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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TAS1R3 83756 broad.mit.edu 37 1 1267276 1267276 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:1267276C>T uc010nyk.1 + 2 450 c.450C>T c.(448-450)GCC>GCT p.A150A NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 150 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-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)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CAGAGCTCGCCATGGTCACCG 0.677 NaN 0 0 0 0.012319 0 17 61 GNB1 2782 broad.mit.edu 37 1 1749278 1749278 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:1749278G>T uc001aif.2 - 4 426 c.94C>A c.(94-96)CAG>AAG p.Q32K GNB1_uc009vky.2_Intron NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 32 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 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;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GCTCTTACCTGAGAGAGAGTT 0.547 NaN 1 0 0.00909568 0.009096 0.00928131 3 58 ICMT 23463 broad.mit.edu 37 1 6293642 6293642 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:6293642G>A uc001amk.2 - 3 419 c.346C>T c.(346-348)CCC>TCC p.P116S ICMT_uc001aml.2_Missense_Mutation_p.P20S NM_012405 NP_036537 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase 116 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity 0 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AGACTTTTGGGATTATTGACT 0.398 NaN 0 0 0 0.001984 0 6 74 SPEN 23013 broad.mit.edu 37 1 16262633 16262633 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:16262633G>T uc001axk.1 + 11 10102 c.9898G>T c.(9898-9900)GGG>TGG p.G3300W SPEN_uc010obp.1_Missense_Mutation_p.G3259W NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3300 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCACTCCAGCGGGGAGCTGTT 0.627 NaN 1 0 5.3912e-06 0.006122 5.72517e-06 17 162 UBR4 23352 broad.mit.edu 37 1 19454159 19454159 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:19454159G>A uc001bbi.2 - 63 9190 c.9186C>T c.(9184-9186)TTC>TTT p.F3062F UBR4_uc001bbk.1_Silent_p.F709F NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3062 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGCGGGACATGAAGACACTCA 0.488 NaN 0 0 0 0.008291 0 10 102 EIF4G3 8672 broad.mit.edu 37 1 21154159 21154159 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:21154159C>G uc001bec.2 - 27 4308 c.4052G>C c.(4051-4053)AGA>ACA p.R1351T EIF4G3_uc010odi.1_Missense_Mutation_p.R955T|EIF4G3_uc010odj.1_Missense_Mutation_p.R1350T|EIF4G3_uc009vpz.2_Missense_Mutation_p.R1071T|EIF4G3_uc001bed.2_Missense_Mutation_p.R1351T|EIF4G3_uc001bef.2_Missense_Mutation_p.R1387T|EIF4G3_uc001bee.2_Missense_Mutation_p.R1357T NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1351 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GACCCCAGCTCTTCCAACAGG 0.388 NaN 0 0 0 0.009096 0 3 55 MYOM3 127294 broad.mit.edu 37 1 24418668 24418668 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:24418668C>T uc001bin.3 - 11 1391 c.1228G>A c.(1228-1230)GAG>AAG p.E410K MYOM3_uc001bim.3_Missense_Mutation_p.E67K|MYOM3_uc001bio.2_Missense_Mutation_p.E410K|MYOM3_uc001bip.1_Missense_Mutation_p.E67K NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 410 Fibronectin type-III 1. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACTCACCGCTCAATGGTGTAG 0.602 NaN 0 0 0 0.00245 0 10 75 PTPRF 5792 broad.mit.edu 37 1 44072610 44072610 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44072610C>G uc001cjr.2 + 21 4168 c.3828C>G c.(3826-3828)CTC>CTG p.L1276L PTPRF_uc001cjs.2_Silent_p.L1267L|PTPRF_uc001cju.2_Silent_p.L654L|PTPRF_uc009vwt.2_Silent_p.L836L|PTPRF_uc001cjv.2_Silent_p.L736L|PTPRF_uc001cjw.2_Silent_p.L502L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1276 Helical; (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCATCATCCTCATTGTCATCG 0.622 NaN 0 0 0 0.010729 0 10 128 IPO13 9670 broad.mit.edu 37 1 44426671 44426671 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44426671G>C uc001ckx.2 + 13 3028 c.2233G>C c.(2233-2235)GAC>CAC p.D745H NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 745 HEAT 13. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTCTGCTCTTGACCTCACTCG 0.617 NaN 0 0 0 0.001168 0 6 60 ATP6V0B 533 broad.mit.edu 37 1 44442265 44442265 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44442265C>T uc001cld.2 + 5 393 c.282C>T c.(280-282)ATC>ATT p.I94I ATP6V0B_uc001clc.2_Silent_p.I94I|ATP6V0B_uc001cle.2_Silent_p.I47I|ATP6V0B_uc001clf.2_Silent_p.I47I|B4GALT2_uc001clg.2_5'Flank|B4GALT2_uc001clh.2_5'Flank NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 94 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTACCAGCATCATCTTCTGTG 0.502 NaN 0 0 0 0.008291 0 8 88 LRRC40 55631 broad.mit.edu 37 1 70618118 70618118 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:70618118G>C uc001der.1 - 12 1489 c.1437C>G c.(1435-1437)CTC>CTG p.L479L NM_017768 NP_060238 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 479 LRR 16. ovary(1) 1 ATAAATACCTGAGATCTAAAA 0.294 NaN 0 0 0 0.001168 0 4 33 TGFBR3 7049 broad.mit.edu 37 1 92185617 92185617 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:92185617C>T uc001doh.2 - 9 1712 c.1246G>A c.(1246-1248)GAG>AAG p.E416K TGFBR3_uc009wde.2_Missense_Mutation_p.E193K|TGFBR3_uc010osy.1_Missense_Mutation_p.E374K|TGFBR3_uc001doi.2_Missense_Mutation_p.E415K|TGFBR3_uc001doj.2_Missense_Mutation_p.E415K NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 416 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCTTCTCCCTCTTCATTCCAG 0.577 NaN 0 0 0 0.001984 0 7 84 VAV3 10451 broad.mit.edu 37 1 108417594 108417594 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:108417594C>T uc001dvk.1 - 2 304 c.250G>A c.(250-252)GAG>AAG p.E84K VAV3_uc010ouw.1_Missense_Mutation_p.E84K|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.E84K NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 84 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCAAACGTCTCACAACAGGCC 0.358 NaN 0 0 0 0.004482 0 7 54 AKNAD1 254268 broad.mit.edu 37 1 109366068 109366068 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:109366068C>T uc001dwa.2 - 13 2360 c.2091G>A c.(2089-2091)CAG>CAA p.Q697Q AKNAD1_uc010ovb.1_Silent_p.Q404Q|AKNAD1_uc001dwb.2_RNA NM_152763 NP_689976 Q5T1N1 AKND1_HUMAN hypothetical protein LOC254268 697 ovary(3) 3 TTGAGTAATTCTGTCCTGGAG 0.408 NaN 0 0 0 0.00308 0 7 70 KCND3 3752 broad.mit.edu 37 1 112524975 112524975 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:112524975G>A uc001ebu.1 - 2 854 c.374C>T c.(373-375)CCG>CTG p.P125L KCND3_uc001ebv.1_Missense_Mutation_p.P125L NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 125 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GATGATCTCCGGGAGGATGCC 0.617 NaN 0 0 0 0.006214 0 9 103 SLC16A1 6566 broad.mit.edu 37 1 113459918 113459918 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:113459918G>C uc001ecx.2 - 4 1942 c.1110C>G c.(1108-1110)CTC>CTG p.L370L SLC16A1_uc001ecy.2_Silent_p.L370L|SLC16A1_uc001ecz.2_Silent_p.L370L NM_003051 NP_003042 P53985 MOT1_HUMAN solute carrier family 16, member 1 370 Helical; (Potential). blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1) 1 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) ATACGGAGCTGAGCCACCCGA 0.488 NaN 0 0 0 0.009096 0 3 51 MAGI3 260425 broad.mit.edu 37 1 114226103 114226103 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114226103G>A uc001edk.2 + 21 4094 c.3913G>A c.(3913-3915)GAG>AAG p.E1305K MAGI3_uc001edi.3_3'UTR|MAGI3_uc010owm.1_3'UTR|MAGI3_uc001edj.2_3'UTR|MAGI3_uc009wgo.2_RNA NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 1330 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCAAATGCTGAGGCCAAATT 0.478 NaN 0 0 0 0.00308 0 7 94 PTPN22 26191 broad.mit.edu 37 1 114380651 114380651 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114380651C>T uc001eds.2 - 13 1501 c.1371G>A c.(1369-1371)CAG>CAA p.Q457Q PTPN22_uc009wgq.2_Silent_p.Q402Q|PTPN22_uc010owo.1_Silent_p.Q213Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.Q457Q|PTPN22_uc009wgs.2_Silent_p.Q330Q|PTPN22_uc001edu.2_Silent_p.Q457Q NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 457 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGTTTCTCTCTGCTGTATCA 0.373 NaN 0 0 0 0.008291 0 8 90 PTPN22 26191 broad.mit.edu 37 1 114380755 114380755 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114380755C>G uc001eds.2 - 13 1397 c.1267G>C c.(1267-1269)GAG>CAG p.E423Q PTPN22_uc009wgq.2_Missense_Mutation_p.E368Q|PTPN22_uc010owo.1_Missense_Mutation_p.E179Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.E423Q|PTPN22_uc009wgs.2_Missense_Mutation_p.E296Q|PTPN22_uc001edu.2_Missense_Mutation_p.E423Q NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 423 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACATCCCTCAAACAAAAGA 0.388 NaN 0 0 0 0.004482 0 5 63 PTGFRN 5738 broad.mit.edu 37 1 117504176 117504176 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:117504176G>C uc001egv.1 + 5 1662 c.1525G>C c.(1525-1527)GAC>CAC p.D509H NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 509 Extracellular (Potential).|Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TACAGAGGAAGACAGAGGCAA 0.463 NaN 0 0 0 0.001984 0 6 89 MAN1A2 10905 broad.mit.edu 37 1 118039474 118039474 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:118039474G>A uc001ehd.1 + 10 2095 c.1374G>A c.(1372-1374)GGG>GGA p.G458G MAN1A2_uc009whg.1_Silent_p.G248G NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 458 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AAAAGATGGGGCATTTGGCCT 0.438 NaN 0 0 0 0.00499 0 15 118 HAO2 51179 broad.mit.edu 37 1 119936422 119936422 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:119936422G>T uc001ehq.1 + 9 1367 c.1015G>T c.(1015-1017)GCT>TCT p.A339S HAO2_uc001ehr.1_Missense_Mutation_p.A339S NM_001005783 NP_001005783 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 339 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity ovary(2)|skin(2) 4 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CCGGTCGGTCGCTGAGATCAA 0.478 NaN 1 0 0.000151284 0.001855 0.000157588 11 168 NBPF9 400818 broad.mit.edu 37 1 144617158 144617158 + Nonsense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:144617158G>T uc009wig.1 + 5 260 c.184G>T c.(184-186)GAG>TAG p.E62* NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_5'UTR|NBPF9_uc001eli.3_Intron|NBPF9_uc010oyf.1_5'UTR|NBPF9_uc010oyg.1_Intron|NBPF9_uc009wii.1_Intron NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 62 cytoplasm 0 AGAGTATGAAGAGTGTAAAGA 0.527 NaN 1 0 0.000958276 0.007413 0.000986218 15 157 PDE4DIP 9659 broad.mit.edu 37 1 144871824 144871824 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:144871824G>A uc001elw.3 - 32 5429 c.5138C>T c.(5137-5139)TCA>TTA p.S1713L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.S720L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1713 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGATGGAGCTGAGGGCAATGG 0.532 NaN T PDGFRB MPD 0 0 0 0.00308 0 6 114 ECM1 1893 broad.mit.edu 37 1 150483939 150483939 + Missense_Mutation SNP G G A rs149230481 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:150483939G>A uc001eus.2 + 7 914 c.715G>A c.(715-717)GAA>AAA p.E239K ECM1_uc010pce.1_3'UTR|ECM1_uc010pcf.1_3'UTR|ECM1_uc001eut.2_Intron|ECM1_uc001euu.2_Missense_Mutation_p.E268K|ECM1_uc001euv.2_Missense_Mutation_p.E266K|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 239 2 X approximate repeats.|1. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTAGTGGGAGGAAGCAATGAG 0.597 NaN 0 0 0 0.010818 0 26 177 FLG2 388698 broad.mit.edu 37 1 152324512 152324512 + Missense_Mutation SNP T T C rs150834303 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:152324512T>C uc001ezw.3 - 3 5823 c.5750A>G c.(5749-5751)AAG>AGG p.K1917R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1917 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGTGTCTCTTGTGAACTGT 0.502 NaN 0 0 0 0.010504 0 19 269 INTS3 65123 broad.mit.edu 37 1 153701122 153701122 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153701122G>A uc009wom.2 + 2 233 c.12G>A c.(10-12)CAG>CAA p.Q4Q INTS3_uc001fct.2_Silent_p.Q4Q|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 4 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGAGTTGCAGAAGGGAAAAG 0.448 NaN 0 0 0 0.006214 0 8 68 INTS3 65123 broad.mit.edu 37 1 153701160 153701160 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153701160G>T uc009wom.2 + 2 271 c.50G>T c.(49-51)GGA>GTA p.G17V INTS3_uc001fct.2_Missense_Mutation_p.G17V|INTS3_uc001fcu.2_5'UTR|INTS3_uc001fcv.2_5'UTR NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 17 Ala/Gly-rich. DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTGCTTCGggagcagcggga 0.423 NaN 1 0 1.58986e-06 0.008291 1.70343e-06 8 47 GATAD2B 57459 broad.mit.edu 37 1 153784519 153784519 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153784519C>T uc001fdb.3 - 9 1753 c.1509G>A c.(1507-1509)ATG>ATA p.M503I NM_020699 NP_065750 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 503 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TATGATGTCTCATGATGGTCT 0.458 NaN 0 0 0 0.003163 0 9 155 AQP10 89872 broad.mit.edu 37 1 154296214 154296214 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:154296214C>T uc001feu.2 + 5 679 c.639C>T c.(637-639)CTC>CTT p.L213L AQP10_uc001fev.2_Silent_p.L213L|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 213 Extracellular (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGATTCCACTCAACCCTGCCC 0.642 NaN 0 0 0 0.00308 0 6 71 DAP3 7818 broad.mit.edu 37 1 155695260 155695260 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:155695260C>G uc001flq.2 + 5 527 c.358C>G c.(358-360)CCA>GCA p.P120A DAP3_uc001flr.2_Missense_Mutation_p.P120A|DAP3_uc001fls.2_Missense_Mutation_p.P120A|DAP3_uc010pgl.1_Missense_Mutation_p.P79A|DAP3_uc001flt.2_Missense_Mutation_p.P86A|DAP3_uc001flu.2_Missense_Mutation_p.P120A|DAP3_uc010pgm.1_Missense_Mutation_p.P86A NM_033657 NP_387506 P51398 RT29_HUMAN death-associated protein 3 120 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding ovary(1) 1 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTTTGCTTATCCAGCTATACG 0.428 NaN 0 0 0 0.009535 0 25 160 PMF1 11243 broad.mit.edu 37 1 156182917 156182917 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:156182917C>T uc001fnq.2 + 1 134 c.111C>T c.(109-111)CTC>CTT p.L37L PMF1_uc009wru.1_RNA|PMF1_uc001fnr.2_Silent_p.L37L|BGLAP_uc001fns.1_Silent_p.L37L NM_007221 NP_009152 Q6P1K2 PMF1_HUMAN polyamine-modulated factor 1 37 cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytosol|MIS12/MIND type complex|transcription factor complex leucine zipper domain binding|transcription coactivator activity 0 Hepatocellular(266;0.158) GGGTGAAGCTCCTCGACACCA 0.577 NaN 0 0 0 0.00308 0 5 52 BCAN 63827 broad.mit.edu 37 1 156618580 156618580 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:156618580G>C uc001fpp.2 + 6 1326 c.990G>C c.(988-990)AAG>AAC p.K330N BCAN_uc001fpo.2_Missense_Mutation_p.K330N NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 330 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGGTGTCAAGACTCTCTTCC 0.617 NaN 0 0 0 0.003954 0 21 209 OR10R2 343406 broad.mit.edu 37 1 158450115 158450115 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:158450115C>T uc010pik.1 + 1 448 c.448C>T c.(448-450)CTG>TTG p.L150L uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 150 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TTGTCACCCTCTGCATTACCC 0.468 NaN 0 0 0 0.01441 0 53 246 OR6N2 81442 broad.mit.edu 37 1 158747170 158747170 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:158747170G>A uc010pir.1 - 1 256 c.256C>T c.(256-258)CTC>TTC p.L86F NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TTCTCACTGAGAATATTAGAC 0.453 NaN 0 0 0 0.006214 0 9 146 AIM2 9447 broad.mit.edu 37 1 159035904 159035904 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:159035904C>G uc001ftj.1 - 4 857 c.612G>C c.(610-612)AAG>AAC p.K204N NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 204 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) TAATTATTCTCTTTGGAATGA 0.358 NaN 0 0 0 0.008291 0 11 81 OR10J3 441911 broad.mit.edu 37 1 159284097 159284097 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:159284097A>G uc010piu.1 - 1 353 c.353T>C c.(352-354)GTC>GCC p.V118A NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) ATATCCCATGACTGTGAGCAG 0.522 NaN 0 0 0 0.013537 0 9 118 VANGL2 57216 broad.mit.edu 37 1 160388962 160388962 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:160388962C>G uc001fwb.1 + 5 662 c.363C>G c.(361-363)CTC>CTG p.L121L VANGL2_uc001fwc.1_Silent_p.L121L NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 121 Helical; Name=1; (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTCTTTCCTCACGCCTCTGG 0.662 NaN 0 0 0 0.00308 0 6 110 C1orf111 284680 broad.mit.edu 37 1 162343919 162343919 + Silent SNP G G A rs144886006 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:162343919G>A uc001gbx.2 - 3 769 c.705C>T c.(703-705)CTC>CTT p.L235L NM_182581 NP_872387 Q5T0L3 CA111_HUMAN hypothetical protein LOC284680 235 ovary(1) 1 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) TGCCGGAGGAGAGCCTGTCTC 0.552 NaN 0 0 0 0.010729 0 10 243 UAP1 6675 broad.mit.edu 37 1 162549315 162549315 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:162549315C>T uc001gce.3 + 4 912 c.583C>T c.(583-585)CAG>TAG p.Q195* NM_003115 NP_003106 Q16222 UAP1_HUMAN UDP-N-acetylglucosamine pyrophosphorylase 1 195 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity ovary(2)|skin(2)|kidney(1) 5 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AATCTTTTTTCAGCAAGGAAT 0.358 NaN 0 0 0 0.006214 0 9 68 RXRG 6258 broad.mit.edu 37 1 165380319 165380319 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:165380319C>T uc001gda.2 - 5 950 c.650G>A c.(649-651)CGA>CAA p.R217Q NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 217 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) AGCTCGCTCTCGGCTCCTCTG 0.448 NaN 0 0 0 0.012319 0 19 57 FMO3 2328 broad.mit.edu 37 1 171080103 171080103 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:171080103C>T uc001ghi.2 + 6 903 c.792C>T c.(790-792)TTC>TTT p.F264F FMO3_uc001ghh.2_Silent_p.F264F|FMO3_uc010pmb.1_Silent_p.F244F|FMO3_uc010pmc.1_Silent_p.F201F NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 264 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGCAAGATTCAAGCATGAAA 0.443 NaN 0 0 0 0.004482 0 6 100 CEP350 9857 broad.mit.edu 37 1 179989421 179989421 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:179989421A>C uc001gnt.2 + 12 2895 c.2512A>C c.(2512-2514)AGA>CGA p.R838R CEP350_uc009wxl.2_Silent_p.R837R|CEP350_uc001gnu.2_Silent_p.R672R NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 838 centrosome|nucleus|spindle ovary(4) 4 TTTGTCCAGCAGAATTGAAAG 0.443 NaN 0 0 0 0.014323 0 20 126 HMCN1 83872 broad.mit.edu 37 1 185969231 185969231 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:185969231G>A uc001grq.1 + 26 4158 c.3929G>A c.(3928-3930)AGA>AAA p.R1310K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1310 Ig-like C2-type 10. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTGACAGGCAGAGAGCCTGGC 0.398 NaN 0 0 0 0.004007 0 12 81 CFH 3075 broad.mit.edu 37 1 196697623 196697623 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:196697623G>C uc001gtj.3 + 15 2624 c.2384G>C c.(2383-2385)GGA>GCA p.G795A NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 795 Sushi 13. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGCATAAATGGAAGATGGGAT 0.338 NaN 0 0 0 0.004482 0 6 85 TNNI1 7135 broad.mit.edu 37 1 201383732 201383732 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:201383732C>T uc010ppq.1 - 5 196 c.103G>A c.(103-105)GAG>AAG p.E35K TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E14K NM_003281 NP_003272 P19237 TNNI1_HUMAN troponin I, skeletal, slow 35 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding 0 TCGCGCTCCTCGTGCTCCTGC 0.662 NaN 0 0 0 0.001984 0 6 46 DSTYK 25778 broad.mit.edu 37 1 205138805 205138805 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:205138805C>G uc001hbw.2 - 3 874 c.810G>C c.(808-810)AAG>AAC p.K270N DSTYK_uc001hbx.2_Missense_Mutation_p.K270N|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 270 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 AGGAGAAATACTTTCGGATTT 0.448 NaN 0 0 0 0.009096 0 3 55 RPS6KC1 26750 broad.mit.edu 37 1 213405500 213405500 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:213405500G>C uc010ptr.1 + 10 1286 c.1127G>C c.(1126-1128)AGA>ACA p.R376T RPS6KC1_uc001hkd.2_Missense_Mutation_p.R364T|RPS6KC1_uc010pts.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R164T|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R195T|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Missense_Mutation_p.R195T NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 376 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGCAGGAACAGAAAGACCATC 0.413 NaN 0 0 0 0.008291 0 10 88 KCTD3 51133 broad.mit.edu 37 1 215768802 215768802 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:215768802C>G uc001hks.2 + 10 1216 c.922C>G c.(922-924)CAG>GAG p.Q308E KCTD3_uc001hkt.2_Missense_Mutation_p.Q308E|KCTD3_uc010pub.1_Missense_Mutation_p.Q206E|KCTD3_uc009xdn.2_Missense_Mutation_p.Q60E NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 308 WD 2. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TGCTGTCACTCAGCACTGGCA 0.403 NaN 0 0 0 0.001168 0 6 64 USH2A 7399 broad.mit.edu 37 1 216500943 216500943 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:216500943G>T uc001hku.1 - 5 1225 c.838C>A c.(838-840)CTT>ATT p.L280I USH2A_uc001hkv.2_Missense_Mutation_p.L280I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 280 Laminin N-terminal.|Extracellular (Potential). L -> F (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTTTGTAAGTGCCACTTGG 0.343 NaN HNSCC(13;0.011) 1 0 0.00010058 0.013537 0.000104953 11 109 C1orf131 128061 broad.mit.edu 37 1 231364906 231364906 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:231364906T>A uc001hun.1 - 3 537 c.500A>T c.(499-501)AAC>ATC p.N167I C1orf131_uc001hul.2_Missense_Mutation_p.N167I|C1orf131_uc001hum.2_Missense_Mutation_p.N166I|C1orf131_uc010pwd.1_Missense_Mutation_p.N166I NM_152379 NP_689592 Q8NDD1 CA131_HUMAN hypothetical protein LOC128061 167 central_nervous_system(1)|skin(1) 2 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTTTCTAGGTTAAATTCTTG 0.199 NaN 0 0 0 0.009096 0 3 38 LYST 1130 broad.mit.edu 37 1 235969823 235969823 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:235969823G>A uc001hxj.2 - 6 2788 c.2613C>T c.(2611-2613)CTC>CTT p.L871L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L871L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 871 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAAATTTGCTGAGACTCTGAG 0.398 NaN Chediak-Higashi_syndrome 0 0 0 0.003163 0 14 106 RYR2 6262 broad.mit.edu 37 1 237819281 237819281 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:237819281C>G uc001hyl.1 + 53 8246 c.8126C>G c.(8125-8127)TCA>TGA p.S2709* NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2709 Modulator (Potential).|Cytoplasmic (By similarity).|3.|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) GTTGATACCTCAAAGTATGGA 0.358 NaN 0 0 0 0.00308 0 5 22 OPN3 23596 broad.mit.edu 37 1 241803278 241803278 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:241803278G>A uc001hza.2 - 1 424 c.279C>T c.(277-279)TTC>TTT p.F93F OPN3_uc001hzb.2_RNA|OPN3_uc001hzc.2_RNA NM_014322 NP_055137 Q9H1Y3 OPN3_HUMAN opsin 3 93 Helical; Name=2; (Potential). phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity 0 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AGGTGACCCCGAAGAGGGACA 0.622 NaN 0 0 0 0.000602 0 4 18 OR2M4 26245 broad.mit.edu 37 1 248402892 248402892 + Missense_Mutation SNP T T A rs138162512 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:248402892T>A uc010pzh.1 + 1 662 c.662T>A c.(661-663)GTC>GAC p.V221D NM_017504 NP_059974 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TATTCCCATGTCCTTCGAGCC 0.483 NaN 0 0 0 0.001984 0 7 48 OR2T2 401992 broad.mit.edu 37 1 248616329 248616329 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:248616329C>T uc001iek.1 + 1 231 c.231C>T c.(229-231)ATC>ATT p.I77I NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 77 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACATCTGTATCACTGTCCCCA 0.522 NaN 0 0 0 0.006214 0 6 164 KLF6 1316 broad.mit.edu 37 10 3823941 3823941 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:3823941C>T uc001iha.2 - 2 835 c.568G>A c.(568-570)GAT>AAT p.D190N KLF6_uc010qaj.1_Missense_Mutation_p.D190N|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.D190N NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 190 B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) GGGGAGGCATCGCCATTTCCC 0.627 NaN OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001855 0 12 57 KLF6 1316 broad.mit.edu 37 10 3824047 3824047 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:3824047C>G uc001iha.2 - 2 729 c.462G>C c.(460-462)CTG>CTC p.L154L KLF6_uc010qaj.1_Silent_p.L154L|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Silent_p.L154L|KLF6_uc001ihb.2_Silent_p.L154L NM_001300 NP_001291 Q99612 KLF6_HUMAN Kruppel-like factor 6 isoform A 154 B cell differentiation nucleus zinc ion binding central_nervous_system(3)|lung(1) 4 Colorectal(1;0.238) GTTCCCTGCTCAGTTCCGGAG 0.612 NaN OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 13 73 C10orf18 54906 broad.mit.edu 37 10 5791660 5791660 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:5791660C>G uc001iij.2 + 15 6901 c.6276C>G c.(6274-6276)CTC>CTG p.L2092L C10orf18_uc001iik.2_Silent_p.L936L NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 2092 ovary(1)|central_nervous_system(1) 2 CATTCCACCTCAACAAACTGA 0.383 NaN 0 0 0 0.000602 0 4 37 FAM171A1 221061 broad.mit.edu 37 10 15296770 15296770 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:15296770G>A uc001iob.2 - 4 534 c.527C>T c.(526-528)TCG>TTG p.S176L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 176 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GTCCACCTCCGAAGGGGAGCT 0.507 NaN 0 0 0 0.001168 0 5 32 CUBN 8029 broad.mit.edu 37 10 17107611 17107611 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:17107611G>A uc001ioo.2 - 22 3087 c.3035C>T c.(3034-3036)TCT>TTT p.S1012F NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1012 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTTGTGAGAGATGGCGGGAT 0.403 NaN 0 0 0 0.004656 0 19 161 SVIL 6840 broad.mit.edu 37 10 29747179 29747179 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:29747179G>A uc001iut.1 - 38 7395 c.6642C>T c.(6640-6642)TTC>TTT p.F2214F LOC387647_uc001iuo.1_Intron|LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.F1128F|SVIL_uc001iuu.1_Silent_p.F1788F NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 2214 HP. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TCCCCACTCAGAACAGGCCTT 0.502 NaN 0 0 0 0.000602 0 3 62 KIAA1462 57608 broad.mit.edu 37 10 30336610 30336610 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:30336610C>T uc001iux.2 - 1 191 c.132G>A c.(130-132)CAG>CAA p.Q44Q KIAA1462_uc001iuy.2_Silent_p.Q44Q|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Silent_p.Q44Q NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 44 ovary(4) 4 CATGCCCGTTCTGCAGGCCCT 0.642 NaN 0 0 0 0.00308 0 6 41 PARD3 56288 broad.mit.edu 37 10 34671692 34671692 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:34671692C>T uc010qej.1 - 9 1175 c.1175G>A c.(1174-1176)AGG>AAG p.R392K PARD3_uc010qek.1_Missense_Mutation_p.R392K|PARD3_uc010qel.1_Missense_Mutation_p.R392K|PARD3_uc010qem.1_Missense_Mutation_p.R392K|PARD3_uc010qen.1_Missense_Mutation_p.R392K|PARD3_uc010qeo.1_Missense_Mutation_p.R392K|PARD3_uc010qep.1_Missense_Mutation_p.R348K|PARD3_uc010qeq.1_Missense_Mutation_p.R348K|PARD3_uc001ixo.1_Missense_Mutation_p.R122K|PARD3_uc001ixp.1_Missense_Mutation_p.R257K|PARD3_uc001ixq.1_Missense_Mutation_p.R392K|PARD3_uc001ixr.1_Missense_Mutation_p.R392K|PARD3_uc001ixt.1_Missense_Mutation_p.R213K|PARD3_uc001ixu.1_Missense_Mutation_p.R348K|PARD3_uc001ixs.1_Missense_Mutation_p.R45K NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 392 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) GTTCACACTCCTGTTGTCAAT 0.488 NaN 0 0 0 0.010729 0 10 75 NCOA4 8031 broad.mit.edu 37 10 51584877 51584877 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:51584877G>C uc001jis.3 + 8 1179 c.976G>C c.(976-978)GAG>CAG p.E326Q PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.E342Q|NCOA4_uc010qhd.1_Missense_Mutation_p.E342Q|NCOA4_uc010qhe.1_Missense_Mutation_p.E226Q|NCOA4_uc010qhf.1_Missense_Mutation_p.E160Q|NCOA4_uc001jit.2_Missense_Mutation_p.E326Q|NCOA4_uc009xoo.2_Missense_Mutation_p.E326Q NM_001145263 NP_001138735 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 isoform 3 326 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity central_nervous_system(1)|kidney(1) 2 TGAAACCAGTGAGAAGTTTAA 0.478 NaN T RET papillary thyroid 0 0 0 0.001984 0 5 74 EXOC6 54536 broad.mit.edu 37 10 94733956 94733956 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:94733956G>A uc001kig.2 + 18 1986 c.1920G>A c.(1918-1920)TTG>TTA p.L640L EXOC6_uc010qnr.1_Silent_p.L656L|EXOC6_uc001kie.2_Silent_p.L635L|EXOC6_uc009xub.2_Silent_p.L639L|EXOC6_uc009xuc.2_Silent_p.L537L|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.L214L NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 640 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) TAAATTTTTTGAGAAGCATCT 0.284 NaN 0 0 0 0.00308 0 5 56 SORBS1 10580 broad.mit.edu 37 10 97096846 97096846 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:97096846G>A uc001kkp.2 - 28 3116 c.3071C>T c.(3070-3072)TCA>TTA p.S1024L SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Intron|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Intron|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S978L|SORBS1_uc010qoe.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 1024 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GGCCCTTGGTGACAAGGCGAG 0.607 NaN 0 0 0 0.001855 0 11 26 SORBS1 10580 broad.mit.edu 37 10 97174257 97174257 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:97174257C>T uc001kkp.2 - 7 849 c.804G>A c.(802-804)TCG>TCA p.S268S SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Silent_p.S268S|SORBS1_uc001kkq.2_Silent_p.S199S|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Silent_p.S236S|SORBS1_uc001kkw.2_Silent_p.S268S|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Silent_p.S466S|SORBS1_uc001kkx.1_Silent_p.S236S NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 268 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TTACGGTACTCGAAACAGCTC 0.602 NaN 0 0 0 0.008291 0 10 63 GBF1 8729 broad.mit.edu 37 10 104111130 104111130 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104111130A>T uc001kux.1 + 5 653 c.413A>T c.(412-414)CAG>CTG p.Q138L GBF1_uc001kuw.2_Missense_Mutation_p.Q138L|GBF1_uc001kuy.1_Missense_Mutation_p.Q138L|GBF1_uc001kuz.1_Missense_Mutation_p.Q138L NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 138 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AAAATCCTTCAGGTAAGCGAG 0.517 NaN 0 0 0 0.004482 0 8 42 GBF1 8729 broad.mit.edu 37 10 104136749 104136749 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104136749G>C uc001kux.1 + 33 4583 c.4343G>C c.(4342-4344)CGC>CCC p.R1448P GBF1_uc001kuy.1_Missense_Mutation_p.R1448P|GBF1_uc001kuz.1_Missense_Mutation_p.R1449P NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 1448 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AAAGGGAACCGCTTCAAGAAG 0.517 NaN 0 0 0 0.013537 0 12 96 CNNM2 54805 broad.mit.edu 37 10 104678597 104678597 + Silent SNP C C T rs142276906 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104678597C>T uc001kwm.2 + 1 484 c.360C>T c.(358-360)TTC>TTT p.F120F CNNM2_uc001kwn.2_Silent_p.F120F|CNNM2_uc001kwl.2_Silent_p.F120F NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 120 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCATCGCCTTCACCGAGCACG 0.557 NaN 0 0 0 0.009096 0 4 25 CCDC147 159686 broad.mit.edu 37 10 106139900 106139900 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:106139900G>A uc001kyh.2 + 9 1421 c.1287G>A c.(1285-1287)CAG>CAA p.Q429Q NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 429 Potential. ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATGAGGCTCAGAAGCAGAGAA 0.488 NaN 0 0 0 0.007413 0 17 68 SORCS1 114815 broad.mit.edu 37 10 108357148 108357148 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:108357148C>T uc001kym.2 - 24 3234 c.3226G>A c.(3226-3228)GGA>AGA p.G1076R SORCS1_uc001kyl.2_Missense_Mutation_p.G1076R|SORCS1_uc009xxs.2_Missense_Mutation_p.G1076R|SORCS1_uc001kyn.1_Missense_Mutation_p.G1076R|SORCS1_uc001kyo.2_Missense_Mutation_p.G1076R NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1076 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACTCGGACTCCTGGCTTCAGC 0.502 NaN 0 0 0 0.009096 0 3 69 ZDHHC6 64429 broad.mit.edu 37 10 114190585 114190585 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:114190585C>T uc001kzv.2 - 11 1643 c.1219G>A c.(1219-1221)GAG>AAG p.E407K ZDHHC6_uc001kzw.2_Missense_Mutation_p.E403K NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 407 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TTCTCCCCCTCTGGGGCTTGA 0.358 NaN 0 0 0 0.004482 0 6 74 ATRNL1 26033 broad.mit.edu 37 10 117026389 117026389 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:117026389G>A uc001lcg.2 + 12 2274 c.1888G>A c.(1888-1890)GGG>AGG p.G630R NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 630 PSI 1.|Kelch 6.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGCTGGTCCAGGGATAAAATG 0.363 NaN 0 0 0 0.003163 0 12 90 RGS10 6001 broad.mit.edu 37 10 121286922 121286922 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:121286922C>G uc001lee.2 - 1 40 c.40G>C c.(40-42)GAT>CAT p.D14H RGS10_uc001lef.2_Missense_Mutation_p.D8H|RGS10_uc001leg.2_Missense_Mutation_p.D22H NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 14 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) GAACTGCCATCGCTGTCGTGG 0.517 NaN 0 0 0 0.013537 0 11 69 FAM24A 118670 broad.mit.edu 37 10 124671218 124671218 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:124671218C>T uc001lgv.2 + 2 189 c.68C>T c.(67-69)GCG>GTG p.A23V NM_001029888 NP_001025059 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 23 extracellular region ovary(2) 2 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CTGGTTGCCGCGATGGTGCTC 0.473 NaN 0 0 0 0.01441 0 51 284 JAKMIP3 282973 broad.mit.edu 37 10 133978214 133978214 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:133978214G>C uc001lkx.3 + 20 2459 c.2459G>C c.(2458-2460)AGA>ACA p.R820T JAKMIP3_uc009yba.1_Missense_Mutation_p.R257T NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GCTCAGAAGAGACAAATAAAG 0.418 NaN 0 0 0 0.009096 0 3 26 KNDC1 85442 broad.mit.edu 37 10 134981812 134981812 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:134981812T>C uc001llz.1 + 3 357 c.356T>C c.(355-357)TTT>TCT p.F119S KNDC1_uc001lma.1_Missense_Mutation_p.F54S NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 119 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGGAACACCTTTGAGGTAAGT 0.582 NaN 0 0 0 0.001855 0 10 73 PAOX 196743 broad.mit.edu 37 10 135197564 135197564 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:135197564C>T uc001lmv.2 + 4 1049 c.969C>T c.(967-969)ATC>ATT p.I323I PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Silent_p.I323I|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_Intron|PAOX_uc001lnc.2_Intron NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 461 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) ACAACAAAATCTTCCTGGAGT 0.557 NaN 0 0 0 0.009096 0 4 56 SOX6 55553 broad.mit.edu 37 11 16071318 16071318 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:16071318C>T uc001mme.2 - 11 1490 c.1457G>A c.(1456-1458)GGA>GAA p.G486E SOX6_uc001mmd.2_Missense_Mutation_p.G435E|SOX6_uc001mmf.2_Missense_Mutation_p.G432E|SOX6_uc001mmg.2_Missense_Mutation_p.G473E NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 473 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 GGATCCTCTTCCCAGGCTTCC 0.473 NaN 0 0 0 0.008871 0 19 199 ABCC8 6833 broad.mit.edu 37 11 17428510 17428510 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:17428510G>T uc001mnc.2 - 25 3213 c.3087C>A c.(3085-3087)ATC>ATA p.I1029I NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1029 ABC transmembrane type-1 2.|Extracellular (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCCAGTAGTCGATGGCCACCA 0.647 NaN 1 0 1.06961e-07 0.00308 1.15426e-07 6 97 BDNF 627 broad.mit.edu 37 11 27679688 27679688 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:27679688C>G uc010rdu.1 - 2 1275 c.424G>C c.(424-426)GAC>CAC p.D142H BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_Intron|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_Intron|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_Intron|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_Intron|BDNFOS_uc009yip.2_Intron|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_Intron|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_Intron|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_Intron|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_Intron|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_Intron|BDNFOS_uc009yiz.2_Intron|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_Intron|BDNF_uc010rdv.1_Missense_Mutation_p.D142H|BDNF_uc001mrt.2_Missense_Mutation_p.D157H|BDNF_uc010rdw.1_Missense_Mutation_p.D142H|BDNF_uc009yjd.2_Missense_Mutation_p.D142H|BDNF_uc001mru.2_Missense_Mutation_p.D142H|BDNF_uc010rdx.1_Missense_Mutation_p.D142H|BDNF_uc010rdy.1_Missense_Mutation_p.D142H|BDNF_uc009yjg.2_Missense_Mutation_p.D142H|BDNF_uc009yje.2_Missense_Mutation_p.D224H|BDNF_uc009yjf.2_Missense_Mutation_p.D171H|BDNF_uc001mrv.2_Missense_Mutation_p.D142H|BDNF_uc001mrw.3_Missense_Mutation_p.D142H|BDNF_uc001mrx.2_Missense_Mutation_p.D142H|BDNF_uc001mry.3_Missense_Mutation_p.D142H|BDNF_uc001mrz.3_Missense_Mutation_p.D142H|BDNF_uc001msa.2_Missense_Mutation_p.D150H NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 142 extracellular region growth factor activity 0 CTAATACTGTCACACACGCTC 0.542 NaN 0 0 0 0.008871 0 16 112 DGKZ 8525 broad.mit.edu 37 11 46389235 46389235 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:46389235G>C uc001ncn.1 + 4 996 c.871G>C c.(871-873)GAG>CAG p.E291Q DGKZ_uc001nch.1_Missense_Mutation_p.E119Q|DGKZ_uc010rgq.1_Missense_Mutation_p.E68Q|DGKZ_uc001ncj.1_Missense_Mutation_p.E68Q|DGKZ_uc010rgr.1_Missense_Mutation_p.E67Q|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.E102Q|DGKZ_uc001ncm.2_Missense_Mutation_p.E102Q|DGKZ_uc009yky.1_Missense_Mutation_p.E102Q|DGKZ_uc010rgs.1_Missense_Mutation_p.E102Q|DGKZ_uc001nci.1_Missense_Mutation_p.E68Q NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 291 Phorbol-ester/DAG-type 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CATCTGGTTCGAGACCAACGT 0.657 NaN OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003163 0 12 64 DGKZ 8525 broad.mit.edu 37 11 46394037 46394037 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:46394037G>A uc001ncn.1 + 12 1676 c.1551G>A c.(1549-1551)CTG>CTA p.L517L DGKZ_uc001nch.1_Silent_p.L345L|DGKZ_uc010rgq.1_Silent_p.L272L|DGKZ_uc001ncj.1_Silent_p.L295L|DGKZ_uc010rgr.1_Silent_p.L294L|DGKZ_uc001nck.1_Silent_p.L107L|DGKZ_uc001ncl.2_Silent_p.L329L|DGKZ_uc001ncm.2_Silent_p.L328L|DGKZ_uc009yky.1_Silent_p.L329L|DGKZ_uc010rgs.1_Silent_p.L306L NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 517 DAGKc.|Mediates interaction with RASGRP1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCTTCGACCTGAGCCAGGGAG 0.577 NaN 0 0 0 0.008291 0 8 90 OR4C6 219432 broad.mit.edu 37 11 55432656 55432656 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:55432656A>G uc001nht.3 + 3 279 c.14A>G c.(13-15)AAC>AGC p.N5S OR4C6_uc010rik.1_Missense_Mutation_p.N5S NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 5 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GAAAATCAAAACAATGTGACT 0.373 NaN 0 0 0 0.004007 0 12 80 OR8H2 390151 broad.mit.edu 37 11 55872685 55872685 + Missense_Mutation SNP T T G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:55872685T>G uc010riy.1 + 1 167 c.167T>G c.(166-168)CTT>CGT p.L56R NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 56 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GACCTCCAGCTTCACACTCCC 0.428 NaN HNSCC(53;0.14) 0 0 0 0.00632 0 24 264 OR9Q1 219956 broad.mit.edu 37 11 57947223 57947223 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:57947223C>T uc001nmj.2 + 3 623 c.307C>T c.(307-309)CTG>TTG p.L103L NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) TCAGTTCTTTCTGTTCACCTT 0.542 NaN 0 0 0 0.004482 0 8 64 OR5AN1 390195 broad.mit.edu 37 11 59132579 59132579 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:59132579G>C uc010rks.1 + 1 648 c.648G>C c.(646-648)ATG>ATC p.M216I NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TAGTTATCATGATATCCTATG 0.418 NaN 0 0 0 0.003163 0 11 139 OSBP 5007 broad.mit.edu 37 11 59344488 59344488 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:59344488C>T uc001noc.1 - 13 2551 c.2071G>A c.(2071-2073)GAA>AAA p.E691K OSBP_uc009ymr.1_RNA NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 691 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TACATGTTTTCTGCATTCTTC 0.463 NaN 0 0 0 0.004672 0 3 65 VWCE 220001 broad.mit.edu 37 11 61034991 61034991 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:61034991G>C uc001nra.2 - 16 2187 c.1908C>G c.(1906-1908)TTC>TTG p.F636L VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 636 VWFC 5. extracellular region calcium ion binding ovary(1) 1 CGTTGTTATAGAAGATTCTGC 0.612 NaN 0 0 0 0.008291 0 8 71 ASRGL1 80150 broad.mit.edu 37 11 62124476 62124476 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:62124476G>C uc001nte.3 + 4 635 c.351G>C c.(349-351)CTG>CTC p.L117L ASRGL1_uc001ntf.3_Silent_p.L117L|ASRGL1_uc001ntg.3_5'UTR|ASRGL1_uc001nth.1_RNA NM_025080 NP_079356 Q7L266 ASGL1_HUMAN asparaginase-like 1 117 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) ATTGCTTTCTGACTGACCAAG 0.398 NaN 0 0 0 0.000602 0 3 61 UBXN1 51035 broad.mit.edu 37 11 62444099 62444099 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:62444099G>A uc001nul.1 - 9 989 c.857C>T c.(856-858)TCT>TTT p.S286F UBXN1_uc001nuj.2_3'UTR|UBXN1_uc001num.1_Missense_Mutation_p.S282F|UBXN1_uc001nuk.2_3'UTR NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 286 UBX.|Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 GAGAACAGCAGAAGGCACGAG 0.483 NaN 0 0 0 0.004672 0 3 6 NRXN2 9379 broad.mit.edu 37 11 64435996 64435996 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:64435996G>C uc001oar.2 - 9 1717 c.1278C>G c.(1276-1278)TTC>TTG p.F426L NRXN2_uc001oas.2_Missense_Mutation_p.F395L|NRXN2_uc001oaq.2_Missense_Mutation_p.F93L NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CAATGTAGAAGAAGTCATCAG 0.612 NaN 0 0 0 0.008291 0 10 119 SAPS3 55291 broad.mit.edu 37 11 68369379 68369379 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:68369379C>T uc001onw.2 + 21 2508 c.2241C>T c.(2239-2241)AGC>AGT p.S747S SAPS3_uc001onv.2_Silent_p.S747S|SAPS3_uc001ony.3_Silent_p.S718S|SAPS3_uc001onx.2_Silent_p.S741S|SAPS3_uc009ysh.2_Silent_p.S667S|SAPS3_uc001onu.2_Silent_p.S667S|SAPS3_uc010rqc.1_Silent_p.S515S|SAPS3_uc010rqd.1_Silent_p.S430S|SAPS3_uc001onz.2_Silent_p.S75S|SAPS3_uc001ooa.2_Silent_p.S197S NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 747 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) TGGAAACCAGCACTGAACCCA 0.517 NaN 0 0 0 0.008871 0 16 136 SAPS3 55291 broad.mit.edu 37 11 68377463 68377463 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:68377463A>C uc001onw.2 + 23 2809 c.2542A>C c.(2542-2544)AGG>CGG p.R848R SAPS3_uc001onv.2_Silent_p.R854R|SAPS3_uc001ony.3_Silent_p.R819R|SAPS3_uc001onx.2_Silent_p.R842R|SAPS3_uc009ysh.2_Silent_p.R768R|SAPS3_uc001onu.2_Silent_p.R768R|SAPS3_uc010rqc.1_Silent_p.R616R|SAPS3_uc010rqd.1_Silent_p.R531R|SAPS3_uc001onz.2_Silent_p.R176R|SAPS3_uc001ooa.2_Silent_p.R304R NM_001164161 NP_001157633 Q5H9R7 PP6R3_HUMAN SAPS domain family, member 3 isoform 6 848 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding 0 LUAD - Lung adenocarcinoma(13;0.102) CGCGGCGCCCAGGCCTCCCAG 0.612 NaN 0 0 0 0.00308 0 7 40 PPFIA1 8500 broad.mit.edu 37 11 70202353 70202353 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:70202353C>T uc001opo.2 + 19 2773 c.2575C>T c.(2575-2577)CAA>TAA p.Q859* PPFIA1_uc001opn.1_Nonsense_Mutation_p.Q859*|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 859 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCGTAAACTTCAAAAAAAGTA 0.393 NaN 0 0 0 0.001168 0 5 82 NADSYN1 55191 broad.mit.edu 37 11 71166203 71166203 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:71166203G>C uc001oqn.2 + 2 259 c.133G>C c.(133-135)GAG>CAG p.E45Q NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_5'UTR NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 45 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTTGGACCAGAGCTGGAAAT 0.473 NaN 0 0 0 0.004482 0 8 72 PCF11 51585 broad.mit.edu 37 11 82877138 82877138 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:82877138G>C uc001ozx.3 + 5 1544 c.1199G>C c.(1198-1200)AGA>ACA p.R400T PCF11_uc010rsu.1_Missense_Mutation_p.R400T NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 400 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 ATGAACAAGAGAGATCCAAGA 0.338 NaN 0 0 0 0.009096 0 3 16 NOX4 50507 broad.mit.edu 37 11 89177304 89177304 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:89177304T>A uc001pct.2 - 5 685 c.446A>T c.(445-447)GAG>GTG p.E149V NOX4_uc009yvr.2_Missense_Mutation_p.E124V|NOX4_uc001pcu.2_Missense_Mutation_p.E75V|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.E149V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.E149V|NOX4_uc010rtv.1_Missense_Mutation_p.E125V|NOX4_uc009yvq.2_Missense_Mutation_p.E125V|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 149 Extracellular (Potential).|Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ACCACCCACCTCATCTCGGTA 0.448 NaN 0 0 0 0.00245 0 13 125 NOX4 50507 broad.mit.edu 37 11 89223638 89223638 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:89223638G>C uc001pct.2 - 2 380 c.141C>G c.(139-141)CAC>CAG p.H47Q NOX4_uc009yvr.2_Intron|NOX4_uc001pcu.2_5'UTR|NOX4_uc001pcw.2_Missense_Mutation_p.H47Q|NOX4_uc001pcx.2_Missense_Mutation_p.H47Q|NOX4_uc001pcv.2_Missense_Mutation_p.H47Q|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_5'UTR|NOX4_uc009yvp.2_Missense_Mutation_p.H47Q|NOX4_uc010rtv.1_Missense_Mutation_p.H23Q|NOX4_uc009yvq.2_Missense_Mutation_p.H23Q|NOX4_uc009yvs.1_RNA|NOX4_uc001pcy.2_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 47 Extracellular (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CCAACATCTGGTGGAGGTAGT 0.438 NaN 0 0 0 0.00245 0 10 93 ARHGAP20 57569 broad.mit.edu 37 11 110451669 110451669 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:110451669C>T uc001pkz.1 - 16 2286 c.2001G>A c.(1999-2001)AAG>AAA p.K667K ARHGAP20_uc001pky.1_Silent_p.K644K|ARHGAP20_uc009yyb.1_Silent_p.K631K|ARHGAP20_uc001pla.1_Silent_p.K631K|ARHGAP20_uc001plb.2_Silent_p.K210K NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 667 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GCAGTGGGATCTTTGTGTACA 0.507 NaN 0 0 0 0.001168 0 3 46 BTG4 54766 broad.mit.edu 37 11 111367977 111367977 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:111367977G>A uc001plj.2 - 4 654 c.469C>T c.(469-471)CGT>TGT p.R157C BTG4_uc001plk.2_Missense_Mutation_p.R157C NM_017589 NP_060059 Q9NY30 BTG4_HUMAN B-cell translocation gene 4 157 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation 0 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) GGAATGACACGAGGTTCCTTG 0.388 NaN 0 0 0 0.001984 0 5 125 CLDN25 644672 broad.mit.edu 37 11 113650727 113650727 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:113650727C>G uc009yyw.1 + 1 210 c.210C>G c.(208-210)TTC>TTG p.F70L NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 70 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 TTGAATCCTTCTTGTCTCTGC 0.562 NaN 0 0 0 0.00308 0 8 90 SIDT2 51092 broad.mit.edu 37 11 117066606 117066606 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:117066606C>A uc001pqh.1 + 25 2452 c.2411C>A c.(2410-2412)TCC>TAC p.S804Y SIDT2_uc010rxe.1_Missense_Mutation_p.S804Y|SIDT2_uc001pqg.2_Missense_Mutation_p.S825Y|SIDT2_uc001pqi.1_Missense_Mutation_p.S801Y|SIDT2_uc001pqj.1_Missense_Mutation_p.S116Y|uc001pqk.1_RNA NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 804 Helical; (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TTCCTCTCCTCCATCGCCATG 0.612 NaN 1 0 8.34094e-07 0.008871 8.96875e-07 17 236 USP2 9099 broad.mit.edu 37 11 119228516 119228516 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:119228516C>A uc001pwm.3 - 10 1747 c.1452G>T c.(1450-1452)CGG>CGT p.R484R USP2_uc001pwl.3_Silent_p.R275R|USP2_uc001pwn.3_Silent_p.R241R NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 484 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TCTTTATACACCGTTTTCTGC 0.498 NaN 1 0 3.11337e-16 0.013726 3.43387e-16 30 309 ARHGEF12 23365 broad.mit.edu 37 11 120298895 120298895 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:120298895C>G uc001pxl.1 + 8 531 c.524C>G c.(523-525)TCT>TGT p.S175C ARHGEF12_uc009zat.2_Missense_Mutation_p.S156C|ARHGEF12_uc010rzn.1_Missense_Mutation_p.S72C|ARHGEF12_uc009zau.1_Missense_Mutation_p.S72C NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 175 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCATGACATCTCCTCATTCA 0.498 NaN T MLL AML 0 0 0 0.014323 0 16 156 UBASH3B 84959 broad.mit.edu 37 11 122647792 122647792 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:122647792C>T uc001pyi.3 + 3 636 c.276C>T c.(274-276)CTC>CTT p.L92L NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 92 cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGTACGTCCTCTACCTCCGTC 0.562 NaN 0 0 0 0.00308 0 8 65 IQSEC3 440073 broad.mit.edu 37 12 275008 275008 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:275008A>G uc001qhw.1 + 8 2020 c.2014A>G c.(2014-2016)AAG>GAG p.K672E IQSEC3_uc001qhu.1_Missense_Mutation_p.K672E NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 975 Potential.|PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GGAGGACCTGAAGGAGTCCAT 0.602 NaN 0 0 0 0.00245 0 11 36 WNK1 65125 broad.mit.edu 37 12 989996 989996 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:989996C>T uc001qio.3 + 12 3449 c.2942C>T c.(2941-2943)CCG>CTG p.P981L WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 981 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCTCCCATGCCGACAGAAGTA 0.502 NaN 0 0 0 0.001168 0 5 321 SCNN1A 6337 broad.mit.edu 37 12 6458367 6458367 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:6458367G>A uc001qnx.2 - 10 1749 c.1460C>T c.(1459-1461)TCT>TTT p.S487F SCNN1A_uc001qnv.2_Missense_Mutation_p.S187F|SCNN1A_uc001qnw.2_Missense_Mutation_p.S546F|SCNN1A_uc010sfb.1_Missense_Mutation_p.S510F NM_001038 NP_001029 P37088 SCNNA_HUMAN sodium channel, nonvoltage-gated 1 alpha isoform 487 Extracellular (By similarity). excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding 0 Amiloride(DB00594)|Triamterene(DB00384) GTAACCAGCAGAGAGCTGGTA 0.572 NaN 0 0 0 0.00499 0 15 164 ATN1 1822 broad.mit.edu 37 12 7044738 7044738 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:7044738C>G uc001qrw.1 + 5 545 c.308C>G c.(307-309)TCC>TGC p.S103C ATN1_uc001qrx.1_Missense_Mutation_p.S103C|ATN1_uc001qry.1_Missense_Mutation_p.S102C NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 103 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 CAGTCTCCCTCCGATCTGGAT 0.532 NaN 0 0 0 0.008291 0 10 30 RECQL 5965 broad.mit.edu 37 12 21624538 21624538 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:21624538G>A uc001rex.2 - 14 1839 c.1491C>T c.(1489-1491)ATC>ATT p.I497I RECQL_uc001rey.2_Silent_p.I497I NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 497 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 TCAGGATCTTGATTAGATCTC 0.383 NaN Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.001984 0 5 89 ABCC9 10060 broad.mit.edu 37 12 21995253 21995253 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:21995253G>A uc001rfi.1 - 27 3488 c.3468C>T c.(3466-3468)GCC>GCT p.A1156A ABCC9_uc001rfh.2_Silent_p.A1156A|ABCC9_uc001rfj.1_Silent_p.A1120A NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1156 Extracellular (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTTACTTAGAGGCAACCCGAA 0.308 NaN 0 0 0 0.013537 0 10 25 KIAA0528 9847 broad.mit.edu 37 12 22627716 22627716 + Nonsense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:22627716G>C uc001rfq.2 - 16 2240 c.2012C>G c.(2011-2013)TCA>TGA p.S671* KIAA0528_uc010sir.1_Nonsense_Mutation_p.S486*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.S671*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.S673*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.S671*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.S662* NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 671 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TTTCCCATGTGAAAGGTCTAA 0.383 NaN 0 0 0 0.010729 0 9 98 TMTC1 83857 broad.mit.edu 37 12 29736357 29736357 + Silent SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:29736357T>A uc001rjb.2 - 8 1551 c.1077A>T c.(1075-1077)TCA>TCT p.S359S TMTC1_uc001riz.2_Silent_p.S116S|TMTC1_uc001rja.2_Silent_p.S203S|TMTC1_uc001rjc.1_Silent_p.S421S NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 467 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGGACTCTCTTGACAGCCAAA 0.398 NaN 0 0 0 0.001168 0 4 55 PKP2 5318 broad.mit.edu 37 12 32974300 32974300 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:32974300C>T uc001rlj.3 - 10 2250 c.2135G>A c.(2134-2136)GGA>GAA p.G712E PKP2_uc001rlk.3_Missense_Mutation_p.G668E|PKP2_uc010skj.1_Missense_Mutation_p.G665E NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 712 cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGTCCACTTCCGGCCGTGAG 0.423 NaN 0 0 0 0.004482 0 7 40 TMEM106C 79022 broad.mit.edu 37 12 48361983 48361983 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:48361983G>T uc001rqp.2 + 8 839 c.724G>T c.(724-726)GAT>TAT p.D242Y TMEM106C_uc001rqo.2_Missense_Mutation_p.D223Y|TMEM106C_uc001rqr.2_Missense_Mutation_p.D242Y|TMEM106C_uc001rqq.2_Missense_Mutation_p.D223Y NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 242 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TCACTATGTGGATTGTGGAGG 0.428 NaN 1 0 4.36969e-10 0.001855 4.76694e-10 10 70 ADCY6 112 broad.mit.edu 37 12 49177157 49177157 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:49177157C>T uc001rsh.3 - 1 721 c.61G>A c.(61-63)GAA>AAA p.E21K ADCY6_uc001rsj.3_Missense_Mutation_p.E21K|ADCY6_uc001rsi.3_Missense_Mutation_p.E21K NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 21 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CCATTGCGTTCACCCCAGGCT 0.582 NaN 0 0 0 0.001168 0 6 36 MLL2 8085 broad.mit.edu 37 12 49444684 49444684 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:49444684G>A uc001rta.3 - 10 2782 c.2782C>T c.(2782-2784)CAG>TAG p.Q928* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 928 Pro-rich. Missing (in Ref. 1; AAC51734). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GGCATCAGCTGAGGCGACAAG 0.547 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.004007 0 12 71 TFCP2 7024 broad.mit.edu 37 12 51512521 51512521 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:51512521C>T uc001rxw.2 - 2 616 c.157G>A c.(157-159)GAG>AAG p.E53K TFCP2_uc001rxv.1_Missense_Mutation_p.E53K|TFCP2_uc009zlx.1_Missense_Mutation_p.E53K|TFCP2_uc001rxx.2_Missense_Mutation_p.E53K|TFCP2_uc009zly.1_5'UTR NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 53 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AAACTCGACTCTTCTTGCTTA 0.398 NaN 0 0 0 0.001168 0 6 115 MFSD5 84975 broad.mit.edu 37 12 53647579 53647579 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:53647579C>T uc001sci.1 + 2 1151 c.960C>T c.(958-960)CTC>CTT p.L320L MFSD5_uc001sch.1_Silent_p.L427L NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 320 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 TTGCTGTGCTCATCGTCGTCT 0.547 NaN 0 0 0 0.001984 0 6 75 HOXC4 3221 broad.mit.edu 37 12 54447857 54447857 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:54447857G>A uc001seu.2 + 3 831 c.151G>A c.(151-153)GAG>AAG p.E51K HOXC4_uc001sex.2_Missense_Mutation_p.E51K NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCACCACCAGGAGCTGTACCC 0.607 NaN 0 0 0 0.00499 0 16 213 OR6C76 390326 broad.mit.edu 37 12 55820661 55820661 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:55820661G>C uc010spm.1 + 1 624 c.624G>C c.(622-624)TTG>TTC p.L208F NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATCCACTTTGATATTAGTAA 0.398 NaN 0 0 0 0.000602 0 5 25 DNAJC14 85406 broad.mit.edu 37 12 56215782 56215782 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56215782C>G uc001shx.1 - 7 2292 c.2088G>C c.(2086-2088)GTG>GTC p.V696V DNAJC14_uc001shu.1_Intron|DNAJC14_uc009zob.1_Silent_p.V696V NM_032364 NP_115740 Q6Y2X3 DJC14_HUMAN dopamine receptor interacting protein 696 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding ovary(3)|large_intestine(1) 4 AGGGCCTCCTCACTTTCTTCC 0.542 NaN 0 0 0 0.007413 0 14 128 TIMELESS 8914 broad.mit.edu 37 12 56822054 56822054 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56822054C>T uc001slf.2 - 13 1712 c.1544G>A c.(1543-1545)CGA>CAA p.R515Q TIMELESS_uc001slg.2_Missense_Mutation_p.R514Q NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 515 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CCGACAGAATCGCTCCAACAT 0.542 NaN 0 0 0 0.007413 0 13 58 TIMELESS 8914 broad.mit.edu 37 12 56822689 56822689 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56822689C>T uc001slf.2 - 11 1450 c.1282G>A c.(1282-1284)GAA>AAA p.E428K TIMELESS_uc001slg.2_Missense_Mutation_p.E427K NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 428 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 GAGGCAGCTTCCTTGCGGTCA 0.532 NaN 0 0 0 0.00499 0 12 38 ZFC3H1 196441 broad.mit.edu 37 12 72022749 72022749 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:72022749C>G uc001swo.2 - 20 4254 c.3895G>C c.(3895-3897)GAT>CAT p.D1299H NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1299 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 AAGCTATTATCTGAAATAGGT 0.328 NaN 0 0 0 0.004672 0 3 42 ZFC3H1 196441 broad.mit.edu 37 12 72057344 72057344 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:72057344G>A uc001swo.2 - 1 406 c.47C>T c.(46-48)CCG>CTG p.P16L ZFC3H1_uc010sts.1_Missense_Mutation_p.P16L|ZFC3H1_uc001swp.2_Missense_Mutation_p.P16L|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 16 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TTCTTCCTTCGGCGAGAGGCC 0.652 NaN OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006122 0 13 181 TMTC2 160335 broad.mit.edu 37 12 83455601 83455601 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:83455601G>A uc001szt.2 + 11 2754 c.2322G>A c.(2320-2322)CTG>CTA p.L774L TMTC2_uc010suk.1_Silent_p.L529L NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 774 TPR 9. endoplasmic reticulum|integral to membrane binding ovary(2) 2 CAGCCAGGCTGAGGCCTAATG 0.353 NaN 0 0 0 0.001855 0 11 121 TMTC3 160418 broad.mit.edu 37 12 88570051 88570051 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:88570051G>C uc001tau.2 + 10 1607 c.1387G>C c.(1387-1389)GAG>CAG p.E463Q TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 463 TPR 2. integral to membrane binding skin(1) 1 AAAGAACTTTGAGAGAGCTTT 0.289 NaN 0 0 0 0.000602 0 4 32 NUDT4 11163 broad.mit.edu 37 12 93792607 93792607 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:93792607G>C uc001tcm.2 + 4 714 c.316G>C c.(316-318)GAT>CAT p.D106H NUDT4_uc010sup.1_Missense_Mutation_p.D106H|NUDT4_uc001tcn.2_Missense_Mutation_p.D54H|NUDT4_uc010suq.1_Missense_Mutation_p.D55H|NUDT4_uc001tco.2_Missense_Mutation_p.D54H NM_019094 NP_061967 Q9NZJ9 NUDT4_HUMAN nudix-type motif 4 isoform alpha 106 Nudix hydrolase. calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 AATATTAGAAGATTGGGAAGA 0.323 NaN 0 0 0 0.004672 0 3 26 TMCC3 57458 broad.mit.edu 37 12 94975783 94975783 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:94975783T>C uc001tdj.2 - 2 728 c.610A>G c.(610-612)AGA>GGA p.R204G TMCC3_uc001tdi.2_Missense_Mutation_p.R173G NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 204 integral to membrane ovary(1)|skin(1) 2 GCAAACTCTCTGGACTTATTG 0.512 NaN 0 0 0 0.004007 0 13 82 HAL 3034 broad.mit.edu 37 12 96389601 96389601 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:96389601C>T uc001tem.1 - 2 385 c.88G>A c.(88-90)GAG>AAG p.E30K HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Missense_Mutation_p.E30K NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 30 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) CTCACGGCCTCCCGGCCCAGC 0.652 NaN 0 0 0 0.00308 0 7 33 NEDD1 121441 broad.mit.edu 37 12 97345758 97345758 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:97345758C>G uc001teu.3 + 16 2249 c.1910C>G c.(1909-1911)TCA>TGA p.S637* NEDD1_uc001tev.3_Nonsense_Mutation_p.S637*|NEDD1_uc010svc.1_Nonsense_Mutation_p.S548*|NEDD1_uc001tew.2_Nonsense_Mutation_p.S644*|NEDD1_uc001tex.2_Nonsense_Mutation_p.S548* NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 637 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 GAAAGATACTCAGTGAATGAA 0.318 NaN 0 0 0 0.001168 0 6 60 ANKS1B 56899 broad.mit.edu 37 12 99640173 99640173 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:99640173G>C uc001tge.1 - 13 2643 c.2226C>G c.(2224-2226)CTC>CTG p.L742L ANKS1B_uc001tgf.1_Silent_p.L322L|ANKS1B_uc001tgk.2_Silent_p.L39L|ANKS1B_uc009ztt.1_Silent_p.L708L NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 742 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GATAGGCAATGAGATCAGAAT 0.413 NaN 0 0 0 0.010729 0 11 45 C12orf48 55010 broad.mit.edu 37 12 102547708 102547708 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:102547708C>G uc001tjf.2 + 4 561 c.449C>G c.(448-450)TCT>TGT p.S150C C12orf48_uc001tje.2_Missense_Mutation_p.S69C|C12orf48_uc001tjg.2_Missense_Mutation_p.S69C|C12orf48_uc010swa.1_Missense_Mutation_p.S227C|C12orf48_uc001tjh.2_Missense_Mutation_p.S69C|C12orf48_uc010swb.1_Intron|C12orf48_uc001tji.2_Missense_Mutation_p.S154C|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Missense_Mutation_p.S150C|C12orf48_uc009zud.2_Missense_Mutation_p.S150C NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 150 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 ACTGATCTTTCTATACCAACA 0.338 NaN 0 0 0 0.003163 0 11 76 NT5DC3 51559 broad.mit.edu 37 12 104182660 104182660 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:104182660A>T uc010swe.1 - 10 1098 c.1057T>A c.(1057-1059)TGG>AGG p.W353R NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 353 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 ATTTTATCCCAGAGTAAGACA 0.403 NaN 0 0 0 0.011902 0 35 196 SLC41A2 84102 broad.mit.edu 37 12 105238268 105238268 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:105238268T>C uc001tla.2 - 9 1685 c.1518A>G c.(1516-1518)TTA>TTG p.L506L NM_032148 NP_115524 Q96JW4 S41A2_HUMAN solute carrier family 41, member 2 506 Helical; (Potential). integral to membrane|plasma membrane magnesium ion transmembrane transporter activity ovary(1)|skin(1) 2 CAGCGCCAAATAAATACACTA 0.318 NaN 0 0 0 0.00245 0 14 85 CCDC64 92558 broad.mit.edu 37 12 120510439 120510439 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:120510439C>T uc001txl.1 + 6 1239 c.1214C>T c.(1213-1215)TCG>TTG p.S405L CCDC64_uc001txk.2_Missense_Mutation_p.S405L|CCDC64_uc009zwv.1_Intron|CCDC64_uc010sze.1_Intron|CCDC64_uc010szf.1_Missense_Mutation_p.S54L NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 405 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAGAAACCTCGTCCGCCAAG 0.567 NaN 0 0 0 0.006214 0 8 62 VPS37B 79720 broad.mit.edu 37 12 123380553 123380553 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:123380553G>C uc001udl.2 - 1 160 c.57C>G c.(55-57)AAC>AAG p.N19K NM_024667 NP_078943 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37B 19 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CCAGCAGCTCGTTGAGCTGCA 0.716 NaN 0 0 0 0.001168 0 3 47 GPR133 283383 broad.mit.edu 37 12 131487836 131487836 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:131487836C>A uc001uit.3 + 10 1692 c.1133C>A c.(1132-1134)TCT>TAT p.S378Y GPR133_uc010tbm.1_Missense_Mutation_p.S410Y NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 378 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGGGCTCCTCTGCCATGGCA 0.602 NaN 1 0 0.00116845 0.001168 0.00119841 4 44 CHFR 55743 broad.mit.edu 37 12 133433091 133433092 + Nonsense_Mutation DNP CC CC AA TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:133433091_133433092CC>AA uc001ulf.2 - 10 1311_1312 c.1227_1228GG>TT c.(1225-1230)CTGGAG>CTTTAG p.E410* CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Nonsense_Mutation_p.E398*|CHFR_uc010tbs.1_Nonsense_Mutation_p.E410*|CHFR_uc001uld.2_Nonsense_Mutation_p.E369*|CHFR_uc010tbt.1_Nonsense_Mutation_p.E318* NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 410 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCTGACAGCTCCAGCAGGTCCT 0.505 NaN 0 0 0 0.004672 0 29 99 CENPJ 55835 broad.mit.edu 37 13 25473722 25473722 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:25473722C>A uc001upt.3 - 9 3079 c.2826G>T c.(2824-2826)AGG>AGT p.R942S CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'UTR NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 942 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAATTTCTTTCCTAAAATGAC 0.403 NaN 1 0 0.000442599 0.006214 0.000456288 7 29 CDK8 1024 broad.mit.edu 37 13 26828880 26828880 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:26828880C>T uc001uqr.1 + 1 128 c.102C>T c.(100-102)CAC>CAT p.H34H CDK8_uc001uqs.1_Silent_p.H34H|CDK8_uc001uqt.1_Translation_Start_Site NM_001260 NP_001251 P49336 CDK8_HUMAN cyclin-dependent kinase 8 34 Protein kinase.|ATP (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|large_intestine(1)|ovary(1)|skin(1) 5 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CTTATGGTCACGTCTACAAAG 0.607 NaN 0 0 0 0.00308 0 7 28 FRY 10129 broad.mit.edu 37 13 32826017 32826017 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:32826017G>A uc001utx.2 + 50 7669 c.7173G>A c.(7171-7173)AAG>AAA p.K2391K FRY_uc010tdw.1_RNA|FRY_uc001uty.2_5'Flank NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2391 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTTCCAGAAGAGAACAAAAG 0.323 NaN 0 0 0 0.003163 0 10 139 DIAPH3 81624 broad.mit.edu 37 13 60545102 60545102 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:60545102G>T uc001vht.2 - 16 2062 c.1843C>A c.(1843-1845)CCC>ACC p.P615T DIAPH3_uc001vhu.2_Missense_Mutation_p.P352T|DIAPH3_uc001vhv.2_Missense_Mutation_p.P193T NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 615 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AATCCCAGGGGAGGTGGTGGA 0.542 NaN 1 0 6.31075e-24 0.01441 6.98607e-24 40 113 KLF5 688 broad.mit.edu 37 13 73636090 73636090 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:73636090C>T uc001vje.2 + 2 677 c.353C>T c.(352-354)TCA>TTA p.S118L KLF5_uc001vjd.2_Missense_Mutation_p.S27L NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 118 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GACAGTGCCTCAGTCGTAGAC 0.443 NaN 0 0 0 0.007413 0 17 243 KLF5 688 broad.mit.edu 37 13 73636396 73636396 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:73636396C>T uc001vje.2 + 2 983 c.659C>T c.(658-660)TCT>TTT p.S220F KLF5_uc001vjd.2_Missense_Mutation_p.S129F NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 220 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CTTCATCTTTCTGTCCCTACC 0.463 NaN 0 0 0 0.009096 0 4 93 LMO7 4008 broad.mit.edu 37 13 76335156 76335156 + Translation_Start_Site SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:76335156C>G uc001vjv.2 + 1 360 c.-400C>G c.(-402--398)ATCAA>ATGAA LMO7_uc010thv.1_Nonsense_Mutation_p.S152*|LMO7_uc001vjt.1_Nonsense_Mutation_p.S100*|LMO7_uc010thw.1_Nonsense_Mutation_p.S61*|LMO7_uc001vju.1_RNA NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CAGGATTTATCAAATCGAGTC 0.333 NaN 0 0 0 0.007413 0 15 34 NALCN 259232 broad.mit.edu 37 13 102029397 102029397 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:102029397A>C uc001vox.1 - 5 575 c.386T>G c.(385-387)ATT>AGT p.I129S NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.I129S|NALCN_uc001vpa.2_Missense_Mutation_p.I129S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 129 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATATCAGCAATTTCAAACAC 0.403 NaN 0 0 0 0.000602 0 5 83 MYO16 23026 broad.mit.edu 37 13 109661365 109661365 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:109661365A>G uc001vqt.1 + 22 2623 c.2497A>G c.(2497-2499)AAC>GAC p.N833D MYO16_uc010agk.1_Missense_Mutation_p.N855D|MYO16_uc001vqu.1_Missense_Mutation_p.N633D|MYO16_uc010tjh.1_Missense_Mutation_p.N345D NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 833 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTCTCCTGGTAACCAGAATGG 0.353 NaN 0 0 0 0.013537 0 11 128 TMCO3 55002 broad.mit.edu 37 13 114154315 114154315 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:114154315G>A uc001vtu.3 + 4 1028 c.667G>A c.(667-669)GAA>AAA p.E223K TMCO3_uc001vtt.3_Missense_Mutation_p.E223K NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 223 Poly-Glu. E -> G (in Ref. 2; BAA91295). integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GGTGGAGGAAGAAGAGGCCAA 0.383 NaN 0 0 0 0.000602 0 4 68 CHD8 57680 broad.mit.edu 37 14 21897300 21897300 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:21897300C>T uc001was.1 - 3 295 c.201G>A c.(199-201)CAG>CAA p.Q67Q CHD8_uc001war.1_5'UTR NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 346 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTTGCTGTGGCTGCTGCACCT 0.567 NaN 0 0 0 0.006214 0 9 87 MMP14 4323 broad.mit.edu 37 14 23306101 23306101 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:23306101C>T uc001whc.2 + 1 309 c.75C>T c.(73-75)CTC>CTT p.L25L NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 25 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCGCCTCCCTCGGCTCGGCCC 0.726 NaN OREG0022586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 47 RNF31 55072 broad.mit.edu 37 14 24617902 24617902 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:24617902G>A uc001wmn.1 + 4 796 c.547G>A c.(547-549)GAA>AAA p.E183K PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.E32K|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 183 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) AGACAAGGTTGAAGATGATGT 0.453 NaN 0 0 0 0.001984 0 6 71 HECTD1 25831 broad.mit.edu 37 14 31575931 31575931 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:31575931C>T uc001wrc.1 - 38 7636 c.7147G>A c.(7147-7149)GAG>AAG p.E2383K HECTD1_uc001wra.1_Missense_Mutation_p.E509K|HECTD1_uc001wrb.1_Missense_Mutation_p.E509K NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2383 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGTTCTTCTCATCTTCAGAA 0.378 NaN 0 0 0 0.00308 0 8 50 HECTD1 25831 broad.mit.edu 37 14 31598386 31598386 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:31598386G>A uc001wrc.1 - 25 4680 c.4191C>T c.(4189-4191)ATC>ATT p.I1397I HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.I865I NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1397 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AACCCAAGCTGATGTCGCTGC 0.458 NaN 0 0 0 0.003163 0 12 183 SOS2 6655 broad.mit.edu 37 14 50671004 50671004 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:50671004C>G uc001wxs.3 - 2 309 c.211G>C c.(211-213)GAG>CAG p.E71Q SOS2_uc010tql.1_Missense_Mutation_p.E71Q NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 71 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) ATTTTTACCTCTACATCTTGA 0.313 NaN 0 0 0 0.012319 0 16 158 PPP2R5E 5529 broad.mit.edu 37 14 63888788 63888788 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:63888788G>A uc001xgd.1 - 4 969 c.379C>T c.(379-381)CTC>TTC p.L127F PPP2R5E_uc010tsf.1_Missense_Mutation_p.L51F|PPP2R5E_uc010tsg.1_Missense_Mutation_p.L51F|PPP2R5E_uc001xge.2_Missense_Mutation_p.L127F|PPP2R5E_uc010tsh.1_Missense_Mutation_p.L127F|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 127 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTAGGAGGGAGAGTTCTGAAT 0.423 NaN 0 0 0 0.010729 0 8 72 SYNE2 23224 broad.mit.edu 37 14 64457211 64457211 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:64457211C>G uc001xgm.2 + 20 2626 c.2396C>G c.(2395-2397)TCA>TGA p.S799* SYNE2_uc001xgl.2_Nonsense_Mutation_p.S799* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 799 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAAAATATTTCAAGCCAGGAG 0.353 NaN 0 0 0 0.004482 0 8 94 SPTB 6710 broad.mit.edu 37 14 65220341 65220341 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:65220341C>T uc001xhr.2 - 32 6570 c.6516G>A c.(6514-6516)CCG>CCA p.P2172P SPTB_uc001xhs.2_Silent_p.P2172P|SPTB_uc010aqi.2_Silent_p.P833P NM_001024858 NP_001020029 P11277 SPTB1_HUMAN spectrin beta isoform a Error:Variant_position_missing_in_P11277_after_alignment actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CATGGTCCCGCGGGGCCGGCA 0.627 NaN 0 0 0 0.004007 0 12 140 FUT8 2530 broad.mit.edu 37 14 66208977 66208977 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:66208977G>C uc001xin.2 + 11 2774 c.1577G>C c.(1576-1578)GGA>GCA p.G526A FUT8_uc001xio.2_Missense_Mutation_p.G526A|FUT8_uc010tsp.1_Missense_Mutation_p.G363A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.G526A|FUT8_uc001xiq.2_Missense_Mutation_p.G397A|FUT8_uc001xis.2_Missense_Mutation_p.G120A NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 526 SH3.|Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ATGGAACCTGGAGATATCATT 0.453 NaN 0 0 0 0.006122 0 13 128 TTC9 23508 broad.mit.edu 37 14 71137851 71137851 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:71137851G>A uc001xmi.2 + 3 991 c.648G>A c.(646-648)CAG>CAA p.Q216Q NM_015351 NP_056166 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 216 binding 0 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) GATGCTCCCAGAGAGAAAAAG 0.567 NaN 0 0 0 0.00308 0 6 37 NRXN3 9369 broad.mit.edu 37 14 79270147 79270147 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:79270147C>G uc001xun.2 + 6 1601 c.1110C>G c.(1108-1110)GTC>GTG p.V370V NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.V504V NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 743 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGGGGCGTGTCAAGCTCATGG 0.522 NaN 0 0 0 0.000602 0 5 42 TSHR 7253 broad.mit.edu 37 14 81609311 81609311 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:81609311G>C uc001xvd.1 + 10 1065 c.909G>C c.(907-909)GAG>GAC p.E303D NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 303 Extracellular (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TGTGTAATGAGAGCAGTATGC 0.343 NaN Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 0 0 0 0.004482 0 6 92 STON2 85439 broad.mit.edu 37 14 81744768 81744768 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:81744768G>A uc010tvu.1 - 4 1088 c.887C>T c.(886-888)TCT>TTT p.S296F STON2_uc001xvk.1_Missense_Mutation_p.S296F|STON2_uc010tvt.1_Missense_Mutation_p.S93F NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 296 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) GCGGTTTAAAGAGGAAATATC 0.468 NaN 0 0 0 0.00308 0 7 97 SERPINA6 866 broad.mit.edu 37 14 94780794 94780794 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:94780794G>A uc001ycv.2 - 2 296 c.192C>T c.(190-192)TTC>TTT p.F64F SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 64 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGGGGAGATGAAAATGTTCT 0.552 NaN 0 0 0 0.004482 0 7 44 SERPINA3 12 broad.mit.edu 37 14 95080900 95080900 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:95080900G>A uc001ydp.2 + 2 201 c.122G>A c.(121-123)CGA>CAA p.R41Q SERPINA3_uc001ydo.3_Missense_Mutation_p.R66Q|SERPINA3_uc010avf.1_RNA|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.R41Q|SERPINA3_uc001yds.2_Missense_Mutation_p.R41Q|SERPINA3_uc010avg.2_Missense_Mutation_p.R41Q NM_001085 NP_001076 P01011 AACT_HUMAN serpin peptidase inhibitor, clade A, member 3 41 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1) 6 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AACCAAGACCGAGGGACACAC 0.582 NaN 0 0 0 0.004007 0 13 123 AK7 122481 broad.mit.edu 37 14 96912869 96912869 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:96912869C>T uc001yfn.2 + 8 839 c.795C>T c.(793-795)GTC>GTT p.V265V NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 265 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TACAAAACGTCATAGATCACG 0.443 NaN 0 0 0 0.00308 0 5 70 C14orf68 283600 broad.mit.edu 37 14 100795964 100795964 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:100795964C>T uc001yhc.2 + 6 982 c.909C>T c.(907-909)GCC>GCT p.A303A C14orf68_uc001yhd.2_Silent_p.A157A NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 303 transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) TGAGGCTCGCCCGGGGTCTGC 0.652 NaN 0 0 0 0.007291 0 24 110 DYNC1H1 1778 broad.mit.edu 37 14 102516520 102516520 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:102516520G>C uc001yks.2 + 77 13961 c.13797G>C c.(13795-13797)GAG>GAC p.E4599D NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4599 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CAAACACCGAGAAGAAGGCCA 0.592 NaN 0 0 0 0.001168 0 5 62 CYFIP1 23191 broad.mit.edu 37 15 22929848 22929848 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:22929848G>A uc001yus.2 + 6 626 c.522G>A c.(520-522)CTG>CTA p.L174L CYFIP1_uc001yut.2_Silent_p.L174L|CYFIP1_uc010aya.1_Silent_p.L202L NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 174 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGGACGAGCTGAAGAACATGA 0.582 NaN 0 0 0 0.006214 0 7 54 UBE3A 7337 broad.mit.edu 37 15 25601128 25601128 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:25601128T>C uc001zaq.2 - 7 2044 c.2044A>G c.(2044-2046)ATA>GTA p.I682V uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.I659V|UBE3A_uc001zas.2_Missense_Mutation_p.I679V|UBE3A_uc001zat.2_Missense_Mutation_p.I659V NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 682 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTCTGTGATATCTGGAAAGTG 0.323 NaN 0 0 0 0.00308 0 7 137 RYR3 6263 broad.mit.edu 37 15 34015011 34015011 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:34015011G>A uc001zhi.2 + 44 6785 c.6715G>A c.(6715-6717)GGG>AGG p.G2239R RYR3_uc010bar.2_Missense_Mutation_p.G2239R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2239 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGGGGAAACGGGCTCTTGGC 0.572 NaN 0 0 0 0.00333 0 23 117 PLCB2 5330 broad.mit.edu 37 15 40586548 40586548 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:40586548G>A uc001zld.2 - 19 2281 c.1980C>T c.(1978-1980)TTC>TTT p.F660F PLCB2_uc010bbo.2_Silent_p.F656F|PLCB2_uc010ucm.1_Silent_p.F660F NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 660 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GCCGGCGCATGAACTCATGCT 0.592 NaN 0 0 0 0.008871 0 18 50 INO80 54617 broad.mit.edu 37 15 41313219 41313219 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:41313219C>T uc001zni.2 - 26 3366 c.3153G>A c.(3151-3153)TTG>TTA p.L1051L INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1051 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 GGGCCCCATTCAACAAACACT 0.527 NaN 0 0 0 0.001855 0 10 57 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42134022 42134022 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:42134022G>A uc010bco.2 + 8 597 c.496G>A c.(496-498)GAG>AAG p.E166K JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 166 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 TCCAGCCTCAGAGCACAGAGT 0.637 NaN 0 0 0 0.001168 0 5 19 SLTM 79811 broad.mit.edu 37 15 59179635 59179635 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:59179635C>T uc002afp.2 - 18 2568 c.2480G>A c.(2479-2481)AGA>AAA p.R827K SLTM_uc002afn.2_Missense_Mutation_p.R369K|SLTM_uc002afo.2_Missense_Mutation_p.R809K|SLTM_uc002afq.2_Missense_Mutation_p.R396K|SLTM_uc010bgd.2_Missense_Mutation_p.R396K NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 827 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 CTCATTTCTTCTGGAGTCACT 0.463 NaN 0 0 0 0.007413 0 17 71 CORO2B 10391 broad.mit.edu 37 15 69003924 69003924 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:69003924T>C uc002arj.3 + 5 556 c.527T>C c.(526-528)ATT>ACT p.I176T CORO2B_uc010bic.2_Missense_Mutation_p.I171T|CORO2B_uc002ark.2_5'Flank NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 176 WD 2. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 GTGAAGATGATTGACTGCCAC 0.592 NaN 0 0 0 0.00308 0 6 46 GRAMD2 196996 broad.mit.edu 37 15 72455648 72455648 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:72455648C>T uc002atq.2 - 10 939 c.915G>A c.(913-915)CTG>CTA p.L305L GRAMD2_uc010bis.2_Silent_p.L305L|GRAMD2_uc010ukh.1_Silent_p.L99L NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 305 integral to membrane 0 CCCAGAGCCTCAGCTCCCCAG 0.562 NaN 0 0 0 0.00308 0 6 53 CSPG4 1464 broad.mit.edu 37 15 75968309 75968309 + Missense_Mutation SNP G G A rs139798032 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:75968309G>A uc002baw.2 - 10 6644 c.6551C>T c.(6550-6552)ACG>ATG p.T2184M NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 2184 Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CCCTGCTTCCGTCCGGGCGGC 0.687 NaN 0 0 0 0.004672 0 3 13 IL16 3603 broad.mit.edu 37 15 81552159 81552159 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:81552159C>A uc002bgh.3 + 3 735 c.359C>A c.(358-360)GCA>GAA p.A120E IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.A120E|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.A162E|IL16_uc002bgg.2_Missense_Mutation_p.A120E NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 120 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.A120E(1) ovary(2)|lung(1)|skin(1) 4 AAACTAGAAGCACAAAGTAGT 0.443 NaN 1 0 9.31168e-06 0.001855 9.87104e-06 11 53 SOX8 30812 broad.mit.edu 37 16 1035195 1035195 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:1035195G>A uc002ckn.2 + 3 1265 c.1150G>A c.(1150-1152)GGC>AGC p.G384S NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 384 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GGGCGACTATGGCGACCTGCA 0.617 NaN 0 0 0 0.000602 0 5 15 UBE2I 7329 broad.mit.edu 37 16 1374763 1374763 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:1374763G>A uc002clc.1 + 7 550 c.446G>A c.(445-447)CGA>CAA p.R149Q UBE2I_uc002cld.1_Missense_Mutation_p.R149Q|UBE2I_uc002clf.1_Missense_Mutation_p.R149Q|UBE2I_uc002clg.1_Missense_Mutation_p.R149Q NM_194261 NP_919237 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 149 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|skin(1) 2 Hepatocellular(780;0.00369) AAAAGGGTCCGAGCACAAGCC 0.522 NaN 0 0 0 0.006214 0 9 59 PKD1 5310 broad.mit.edu 37 16 2155953 2155953 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:2155953G>A uc002cos.1 - 20 7985 c.7776C>T c.(7774-7776)ACC>ACT p.T2592T PKD1_uc002cot.1_Silent_p.T2592T|PKD1_uc010bse.1_5'Flank NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2592 Extracellular (Potential).|REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCACACTAGCGGTGAGCCCGT 0.662 NaN 0 0 0 0.001168 0 4 44 CLEC16A 23274 broad.mit.edu 37 16 11145497 11145497 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:11145497G>T uc002dao.2 + 18 2224 c.1994G>T c.(1993-1995)CGG>CTG p.R665L CLEC16A_uc002dan.3_Missense_Mutation_p.R647L NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 665 ovary(1)|central_nervous_system(1) 2 AAGACCCGGCGGGTGAGTGAG 0.602 NaN 1 0 2.23348e-06 0.004007 2.3845e-06 13 54 TXNDC11 51061 broad.mit.edu 37 16 11792094 11792094 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:11792094G>A uc010buu.1 - 8 1137 c.1075C>T c.(1075-1077)CGG>TGG p.R359W TXNDC11_uc002dbg.1_Missense_Mutation_p.R332W NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 359 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 CCGTGTGGCCGCAGCCACCGA 0.527 NaN 0 0 0 0.009096 0 3 75 KIAA0430 9665 broad.mit.edu 37 16 15706612 15706612 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:15706612C>G uc002ddr.2 - 17 3469 c.3276G>C c.(3274-3276)AAG>AAC p.K1092N KIAA0430_uc002ddq.2_Missense_Mutation_p.K926N|KIAA0430_uc010uzv.1_Missense_Mutation_p.K1088N|KIAA0430_uc010uzw.1_Missense_Mutation_p.K1091N NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 1091 peroxisome nucleotide binding|RNA binding 0 CTACAGGACTCTTCGAACGCA 0.468 NaN 0 0 0 0.006122 0 14 137 MYH11 4629 broad.mit.edu 37 16 15813524 15813524 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:15813524G>A uc002ddy.2 - 35 5107 c.5000C>T c.(4999-5001)TCC>TTC p.S1667F MYH11_uc002ddv.2_Missense_Mutation_p.S1674F|MYH11_uc002ddw.2_Missense_Mutation_p.S1667F|MYH11_uc002ddx.2_Missense_Mutation_p.S1674F|MYH11_uc010bvg.2_Missense_Mutation_p.S1499F|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Missense_Mutation_p.S373F|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1667 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CTCATCTCTGGAGGCACGGGC 0.507 NaN T CBFB AML 0 0 0 0.013537 0 9 96 TAOK2 9344 broad.mit.edu 37 16 30002499 30002499 + Silent SNP G G A rs138517482 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:30002499G>A uc002dvc.1 + 19 3543 c.2760G>A c.(2758-2760)CTG>CTA p.L920L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron NM_004783 NP_004774 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 1 809 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GCATGGCTCTGGGGGGCATCC 0.677 NaN 0 0 0 0.00245 0 12 102 HSD3B7 80270 broad.mit.edu 37 16 30998197 30998197 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:30998197C>T uc002eaf.2 + 6 674 c.568C>T c.(568-570)CGT>TGT p.R190C HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.R190C NM_025193 NP_079469 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- 190 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity 0 GTGTGCCCTTCGTCCCACGGG 0.682 NaN 0 0 0 0.009096 0 4 49 FUS 2521 broad.mit.edu 37 16 31201394 31201394 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:31201394C>A uc002ebf.2 + 11 1183 c.1100C>A c.(1099-1101)TCA>TAA p.S367* FUS_uc002ebh.2_Nonsense_Mutation_p.S366*|FUS_uc002ebg.2_Nonsense_Mutation_p.S162*|FUS_uc002ebi.2_Nonsense_Mutation_p.S368*|FUS_uc002ebj.2_Nonsense_Mutation_p.S163*|FUS_uc010caj.1_Nonsense_Mutation_p.S58* NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 367 RRM. 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) ATCAAGGTCTCATTTGCTACT 0.478 NaN T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 1 0 0.00024832 0.009096 0.000257326 4 22 GNAO1 2775 broad.mit.edu 37 16 56388944 56388944 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:56388944C>G uc002eiu.3 + 8 1941 c.1044C>G c.(1042-1044)CTC>CTG p.L348L NM_020988 NP_066268 P09471 GNAO_HUMAN guanine nucleotide binding protein, alpha 348 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity lung(1)|breast(1) 2 all_neural(199;0.159) CCAACAACCTCCGGGGCTGCG 0.483 NaN 0 0 0 0.006214 0 6 71 CNOT1 23019 broad.mit.edu 37 16 58576138 58576138 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:58576138C>T uc002env.2 - 33 4970 c.4677G>A c.(4675-4677)CTG>CTA p.L1559L CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Silent_p.L1554L|CNOT1_uc010vik.1_Silent_p.L516L NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1559 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTCTCACTTTCAGCCTGATTT 0.418 NaN 0 0 0 0.001984 0 7 43 FHOD1 29109 broad.mit.edu 37 16 67265134 67265134 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:67265134G>C uc002esl.2 - 17 2736 c.2624C>G c.(2623-2625)TCT>TGT p.S875C FHOD1_uc002esk.2_5'Flank|FHOD1_uc010ced.2_Missense_Mutation_p.S682C NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 875 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ATAGAGGTCAGAGGACTCAGG 0.582 NaN 0 0 0 0.00308 0 7 46 FAM65A 79567 broad.mit.edu 37 16 67575769 67575769 + Splice_Site SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:67575769G>C uc010vjp.1 + 13 1237 c.1141_splice c.e13-1 p.N381_splice FAM65A_uc010cei.1_Splice_Site_p.N203_splice|FAM65A_uc002eth.2_Splice_Site_p.N361_splice|FAM65A_uc010cej.2_Splice_Site_p.N364_splice|FAM65A_uc002eti.1_Splice_Site_p.N324_splice|FAM65A_uc010vjq.1_Splice_Site_p.N375_splice|FAM65A_uc002etj.1_Splice_Site_p.N360_splice|FAM65A_uc002etk.2_Splice_Site_p.N360_splice NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CTCTTTCTCAGAACATGCTGC 0.577 NaN 0 0 0 0.009096 0 4 57 NFATC3 4775 broad.mit.edu 37 16 68160443 68160443 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:68160443G>A uc002evo.1 + 3 1541 c.1331G>A c.(1330-1332)CGA>CAA p.R444Q NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.R444Q|NFATC3_uc002evm.1_Missense_Mutation_p.R444Q|NFATC3_uc002evn.1_Missense_Mutation_p.R444Q|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 444 RHD.| inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) ACTCATCATCGAGCCCATTAT 0.443 NaN 0 0 0 0.00308 0 7 74 C16orf7 9605 broad.mit.edu 37 16 89775292 89775292 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:89775292C>A uc002fom.1 - 13 1795 c.1670G>T c.(1669-1671)GGG>GTG p.G557V C16orf7_uc002fol.1_Missense_Mutation_p.G487V|uc002fon.1_5'Flank NM_004913 NP_004904 Q9Y2B5 CP007_HUMAN chromosome 16 open reading frame 7 557 VPS9. ATP synthesis coupled proton transport GTPase activator activity|transporter activity 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGGCGGGGGCCCGGCCTGGGG 0.667 NaN 1 0 2.7689e-08 0.001984 2.9988e-08 5 19 ENO3 2027 broad.mit.edu 37 17 4859247 4859247 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:4859247C>T uc002gab.3 + 9 970 c.876C>T c.(874-876)ATC>ATT p.I292I ENO3_uc002gac.3_Silent_p.I292I|ENO3_uc010vss.1_Silent_p.I249I|ENO3_uc010vst.1_Silent_p.I128I NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 292 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 TGGTCTCCATCGAAGACCCCT 0.358 NaN 0 0 0 0.003755 0 29 234 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00499 0 18 32 MYH2 4620 broad.mit.edu 37 17 10440759 10440759 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:10440759G>C uc010coi.2 - 16 1816 c.1688C>G c.(1687-1689)TCT>TGT p.S563C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.S563C|MYH2_uc010coj.2_Missense_Mutation_p.S563C NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 563 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GAAGTTGGCAGACTTGCCCAG 0.532 NaN 0 0 0 0.006214 0 9 119 DNAH9 1770 broad.mit.edu 37 17 11522879 11522879 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:11522879C>G uc002gne.2 + 6 1199 c.1131C>G c.(1129-1131)CTC>CTG p.L377L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 377 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTAATTATCTCAGCCCAGAAG 0.448 NaN 0 0 0 0.004482 0 6 93 TEKT3 64518 broad.mit.edu 37 17 15234758 15234758 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15234758G>A uc002gon.2 - 3 332 c.145C>T c.(145-147)CCT>TCT p.P49S NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 49 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGTCTCCAAGGAAGGCTCAGG 0.542 NaN 0 0 0 0.009096 0 4 30 ZNF286A 57335 broad.mit.edu 37 17 15604513 15604513 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15604513G>C uc010cot.2 + 3 481 c.85G>C c.(85-87)GAG>CAG p.E29Q ZNF286A_uc002goz.3_5'UTR|ZNF286A_uc010vwa.1_Missense_Mutation_p.E29Q|ZNF286A_uc002gpa.2_Missense_Mutation_p.E29Q NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GAGCACAGAAGAGGGAGAAGT 0.498 NaN 0 0 0 0.004672 0 3 188 NCOR1 9611 broad.mit.edu 37 17 15967466 15967466 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15967466C>T uc002gpo.2 - 35 5377 c.5137G>A c.(5137-5139)GAG>AAG p.E1713K NCOR1_uc002gpn.2_Missense_Mutation_p.E1729K|NCOR1_uc002gpm.2_Missense_Mutation_p.E233K|NCOR1_uc010vwb.1_Missense_Mutation_p.E297K|NCOR1_uc010coy.2_Missense_Mutation_p.E621K|NCOR1_uc010vwc.1_Missense_Mutation_p.E523K NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1713 Interaction with ETO.|Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) cgttccctctcAGCACTTGCA 0.363 NaN 0 0 0 0.009096 0 3 67 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:16285788C>T uc002gpx.2 + 2 705 c.567C>T c.(565-567)CCC>CCT p.P189P UBB_uc010vwe.1_Silent_p.P113P NM_018955 NP_061828 P0CG47 UBB_HUMAN ubiquitin B precursor 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552 NaN 0 0 0 0.004672 0 3 61 KIAA0100 9703 broad.mit.edu 37 17 26958554 26958554 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:26958554G>A uc002hbu.2 - 23 4341 c.4242C>T c.(4240-4242)CAC>CAT p.H1414H NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1414 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) AGCTCAGCAGGTGGGTCTTTG 0.483 NaN 0 0 0 0.004482 0 6 77 DHRS13 147015 broad.mit.edu 37 17 27228598 27228598 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:27228598C>T uc002hde.3 - 3 410 c.283G>A c.(283-285)GAC>AAC p.D95N DHRS13_uc002hdd.3_Missense_Mutation_p.D45N|DHRS13_uc010wba.1_Intron NM_144683 NP_653284 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 95 extracellular region binding|oxidoreductase activity 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CTGGCCAAGTCCAAGGCCATG 0.602 NaN 0 0 0 0.000602 0 3 81 EFCAB5 374786 broad.mit.edu 37 17 28296147 28296147 + Nonsense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:28296147A>T uc002het.2 + 4 721 c.529A>T c.(529-531)AAA>TAA p.K177* EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Nonsense_Mutation_p.K121*|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Nonsense_Mutation_p.K56*|EFCAB5_uc010csf.2_Nonsense_Mutation_p.K56* NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 177 calcium ion binding ovary(1)|skin(1) 2 TTTGCTTGACAAACTTCTACC 0.378 NaN 0 0 0 0.004672 0 3 33 LRRC37B 114659 broad.mit.edu 37 17 30348952 30348952 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:30348952G>C uc002hgu.2 + 1 798 c.787G>C c.(787-789)GAG>CAG p.E263Q LRRC37B_uc010wbx.1_Missense_Mutation_p.E181Q|LRRC37B_uc010csu.2_Missense_Mutation_p.E263Q NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 263 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATTCCATCTAGAGCCCAAAAG 0.547 NaN 0 0 0 0.003163 0 13 146 TMEM132E 124842 broad.mit.edu 37 17 32964905 32964905 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:32964905C>T uc002hif.2 + 10 2937 c.2609C>T c.(2608-2610)ACC>ATC p.T870I NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 870 Cytoplasmic (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) CCGCTGGAAACCGTGCCCGCC 0.706 NaN 0 0 0 0.001984 0 6 22 SLFN5 162394 broad.mit.edu 37 17 33591520 33591520 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:33591520G>C uc002hjf.3 + 4 1574 c.1457G>C c.(1456-1458)GGG>GCG p.G486A SLFN5_uc010wcg.1_Intron NM_144975 NP_659412 Q08AF3 SLFN5_HUMAN schlafen family member 5 486 cell differentiation ATP binding ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GGCTACACTGGGAGGTTATGC 0.453 NaN 0 0 0 0.00308 0 8 61 DHRS11 79154 broad.mit.edu 37 17 34956406 34956406 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:34956406C>T uc002hnd.2 + 6 895 c.681C>T c.(679-681)CTC>CTT p.L227L MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank NM_024308 NP_077284 Q6UWP2 DHR11_HUMAN short-chain dehydrogenase/reductase precursor 227 extracellular region binding|oxidoreductase activity 0 CTCAGTGTCTCAAACCCGAGG 0.567 NaN 0 0 0 0.001984 0 5 31 MLLT6 4302 broad.mit.edu 37 17 36877001 36877001 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:36877001G>A uc002hqi.3 + 16 2455 c.2442_splice c.e16+1 p.E814_splice MLLT6_uc002hqj.2_Missense_Mutation_p.V250M|MLLT6_uc002hqk.3_Splice_Site_p.E145_splice NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) TTCTTCTGAGGTGGGCGCTAC 0.632 NaN T MLL AL 0 0 0 0.001168 0 5 38 NR1D1 9572 broad.mit.edu 37 17 38250311 38250311 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:38250311C>T uc002htz.1 - 7 2125 c.1499G>A c.(1498-1500)CGC>CAC p.R500H NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Missense_Mutation_p.R114H NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 500 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) GTAGGTGGTGCGGCTTAGGAA 0.572 NaN 0 0 0 0.014323 0 17 170 ACBD4 79777 broad.mit.edu 37 17 43214493 43214493 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:43214493G>A uc002iid.2 + 5 746 c.402G>A c.(400-402)CTG>CTA p.L134L ACBD4_uc010wjj.1_Silent_p.L134L|ACBD4_uc002iie.2_Silent_p.L134L|ACBD4_uc002iif.2_Silent_p.L134L|ACBD4_uc002iic.2_Silent_p.L134L|ACBD4_uc010dae.2_Silent_p.L56L NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN acyl-Coenzyme A binding domain containing 4 134 fatty-acyl-CoA binding ovary(1)|kidney(1) 2 AGACCTTCCTGAGAAGGGTCA 0.607 NaN 0 0 0 0.000602 0 3 52 HOXB1 3211 broad.mit.edu 37 17 46606964 46606964 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:46606964G>A uc002ink.1 - 2 857 c.851C>T c.(850-852)TCA>TTA p.S284L NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 284 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGACTGGTCTGAGGCATCTCC 0.637 NaN 0 0 0 0.001984 0 6 48 HOXB1 3211 broad.mit.edu 37 17 46607120 46607120 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:46607120C>T uc002ink.1 - 2 701 c.695G>A c.(694-696)CGG>CAG p.R232Q NM_002144 NP_002135 P14653 HXB1_HUMAN homeobox B1 232 Homeobox. nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCCACCCTCCGGGCCCGGCT 0.572 NaN 0 0 0 0.003163 0 14 172 CACNA1G 8913 broad.mit.edu 37 17 48701395 48701395 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:48701395C>T uc002irk.1 + 36 6560 c.6188C>T c.(6187-6189)CCC>CTC p.P2063L CACNA1G_uc002irj.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irl.1_Missense_Mutation_p.P1947L|CACNA1G_uc002irm.1_Missense_Mutation_p.P1984L|CACNA1G_uc002irn.1_Missense_Mutation_p.P1929L|CACNA1G_uc002iro.1_Missense_Mutation_p.P1936L|CACNA1G_uc002irp.1_Missense_Mutation_p.P2018L|CACNA1G_uc002irq.1_Missense_Mutation_p.P2040L|CACNA1G_uc002irr.1_Missense_Mutation_p.P1970L|CACNA1G_uc002irs.1_Missense_Mutation_p.P2007L|CACNA1G_uc002irt.1_Missense_Mutation_p.P1952L|CACNA1G_uc002irv.1_Missense_Mutation_p.P1959L|CACNA1G_uc002irw.1_Missense_Mutation_p.P1992L|CACNA1G_uc002iru.1_Missense_Mutation_p.P2029L|CACNA1G_uc002irx.1_Missense_Mutation_p.P1883L|CACNA1G_uc002iry.1_Missense_Mutation_p.P1872L|CACNA1G_uc002irz.1_Missense_Mutation_p.P1876L|CACNA1G_uc002isa.1_Missense_Mutation_p.P1849L|CACNA1G_uc002isb.1_Missense_Mutation_p.P1890L|CACNA1G_uc002isc.1_Missense_Mutation_p.P1965L|CACNA1G_uc002isd.1_Missense_Mutation_p.P1858L|CACNA1G_uc002ise.1_Missense_Mutation_p.P1886L|CACNA1G_uc002isf.1_Missense_Mutation_p.P1913L|CACNA1G_uc002isg.1_Missense_Mutation_p.P1831L|CACNA1G_uc002ish.1_Missense_Mutation_p.P1838L|CACNA1G_uc002isi.1_Missense_Mutation_p.P1826L NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 2063 Cytoplasmic (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCCGAGGGGCCCCTGGGACAC 0.612 NaN 0 0 0 0.001855 0 10 55 C17orf71 55181 broad.mit.edu 37 17 57289713 57289713 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:57289713G>C uc002ixi.2 + 2 1813 c.1771G>C c.(1771-1773)GAG>CAG p.E591Q NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 591 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) AGAAAAACCAGAGGCTGATAG 0.408 NaN 0 0 0 0.00308 0 6 135 USP32 84669 broad.mit.edu 37 17 58313541 58313541 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:58313541G>A uc002iyo.1 - 12 1483 c.1197C>T c.(1195-1197)ATC>ATT p.I399I USP32_uc002iyn.1_Silent_p.I69I NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 399 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACTGCATGGAGATGATAAACC 0.393 NaN 0 0 0 0.010729 0 8 172 USP32 84669 broad.mit.edu 37 17 58422944 58422944 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:58422944C>T uc002iyo.1 - 2 370 c.84G>A c.(82-84)CTG>CTA p.L28L USP32_uc010wov.1_Silent_p.L28L NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 28 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AAGCATCCTTCAGTCGTTTTA 0.458 NaN 0 0 0 0.000602 0 4 79 ACE 1636 broad.mit.edu 37 17 61568636 61568636 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:61568636G>T uc002jau.1 + 19 2828 c.2806G>T c.(2806-2808)GTG>TTG p.V936L ACE_uc002jav.1_Missense_Mutation_p.V362L|ACE_uc010ddv.1_Missense_Mutation_p.V163L|ACE_uc010wpj.1_Missense_Mutation_p.V362L|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V182L NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 936 Extracellular (Potential).|Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCTGCTGCCCGTGCCTCCTGA 0.617 NaN 1 0 3.59834e-05 0.001168 3.77448e-05 6 44 MAP3K3 4215 broad.mit.edu 37 17 61768566 61768566 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:61768566G>C uc002jbg.2 + 13 1636 c.1317G>C c.(1315-1317)CTG>CTC p.L439L MAP3K3_uc002jbe.2_Silent_p.L470L|MAP3K3_uc002jbf.2_Silent_p.L470L|MAP3K3_uc002jbh.2_Silent_p.L466L|MAP3K3_uc010wpo.1_Silent_p.L354L|MAP3K3_uc010wpp.1_Silent_p.L435L NM_002401 NP_002392 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 439 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding lung(3)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1) 6 AGAAGACCCTGACCATCTTCA 0.577 NaN 0 0 0 0.001168 0 5 115 HELZ 9931 broad.mit.edu 37 17 65197255 65197255 + Nonsense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:65197255G>C uc010wqk.1 - 7 606 c.419C>G c.(418-420)TCA>TGA p.S140* HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Nonsense_Mutation_p.S140*|HELZ_uc010des.1_Nonsense_Mutation_p.S140* NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTCTGTTTCTGAGAGAAGTGT 0.343 NaN OREG0024677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 78 SLC39A11 201266 broad.mit.edu 37 17 71027826 71027826 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:71027826G>A uc002jjb.2 - 4 290 c.175C>T c.(175-177)CTT>TTT p.L59F SLC39A11_uc002jja.2_Missense_Mutation_p.L59F|SLC39A11_uc002jjc.1_Missense_Mutation_p.L59F NM_001159770 NP_001153242 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 isoform 1 59 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1) 1 GGGGCCAGAAGAGACCAATAG 0.537 NaN 0 0 0 0.009096 0 3 32 DNAI2 64446 broad.mit.edu 37 17 72285872 72285872 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:72285872C>T uc002jkf.2 + 5 706 c.607C>T c.(607-609)CTG>TTG p.L203L DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 203 WD 1. cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CATCTGGGACCTGGGTGAGAA 0.627 NaN Kartagener_syndrome 0 0 0 0.013537 0 10 56 ARMC7 79637 broad.mit.edu 37 17 73124975 73124975 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:73124975C>T uc002jmw.1 + 3 741 c.439C>T c.(439-441)CGC>TGC p.R147C ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_RNA NM_024585 NP_078861 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 147 binding pancreas(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) GTGCATGCTTCGCTTCTCCCT 0.692 NaN 0 0 0 0.009096 0 3 30 GALR2 8811 broad.mit.edu 37 17 74073116 74073117 + Missense_Mutation DNP CC CC TT TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74073116_74073117CC>TT uc002jqm.1 + 2 849_850 c.768_769CC>TT c.(766-771)ATCCTC>ATTTTC p.L257F ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 257 Helical; Name=6; (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 ACGCGCTCATCCTCTGCGTGTG 0.663 NaN 0 0 0 0.004672 0 4 43 ZACN 353174 broad.mit.edu 37 17 74075572 74075572 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74075572C>G uc002jqn.2 + 2 233 c.150C>G c.(148-150)ATC>ATG p.I50M ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_RNA NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 50 Extracellular (Potential). response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 AGGAAAGCATCCAGATCCCGA 0.547 NaN 0 0 0 0.001984 0 6 37 RHBDF2 79651 broad.mit.edu 37 17 74477496 74477496 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74477496C>G uc002jrq.1 - 3 404 c.111G>C c.(109-111)GAG>GAC p.E37D RHBDF2_uc002jrp.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrr.1_5'UTR|RHBDF2_uc010wtf.1_Missense_Mutation_p.E37D|RHBDF2_uc002jrs.1_Missense_Mutation_p.E37D NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 37 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 GGGCCTGGGTCTCTTTCTCGG 0.637 NaN 0 0 0 0.000602 0 3 43 CBX8 57332 broad.mit.edu 37 17 77768460 77768460 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:77768460G>A uc002jxd.1 - 5 1237 c.1144C>T c.(1144-1146)CAA>TAA p.Q382* NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 382 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AAAAAGCCTTGGTCCGTGTTA 0.498 NaN 0 0 0 0.004007 0 13 212 DLGAP1 9229 broad.mit.edu 37 18 3879141 3879141 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:3879141G>A uc002kmf.2 - 1 995 c.928C>T c.(928-930)CAG>TAG p.Q310* DLGAP1_uc010wyz.1_Nonsense_Mutation_p.Q310*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.Q310*|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 310 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CGTTCTTGCTGACACGACTCG 0.557 NaN 0 0 0 0.013537 0 10 97 CEP76 79959 broad.mit.edu 37 18 12673397 12673397 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:12673397G>A uc002kri.2 - 12 2103 c.1947C>T c.(1945-1947)ATC>ATT p.I649I PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.I471I|CEP76_uc010wzz.1_Silent_p.I574I NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 649 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 AAGCAAACATGATCCAAACAG 0.378 NaN 0 0 0 0.00278 0 22 133 ANKRD30B 374860 broad.mit.edu 37 18 14850274 14850274 + Nonsense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:14850274A>T uc010dlo.2 + 35 3280 c.3100A>T c.(3100-3102)AGA>TGA p.R1034* ANKRD30B_uc010xal.1_Nonsense_Mutation_p.R176* NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1119 Potential. ovary(1)|skin(1) 2 AGAAAAAATTAGACCCGAAGA 0.279 NaN 0 0 0 0.001984 0 6 16 WDR7 23335 broad.mit.edu 37 18 54348569 54348569 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:54348569G>A uc002lgk.1 + 4 503 c.292G>A c.(292-294)GAT>AAT p.D98N WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D98N NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 98 WD 2. ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) GGATGTGAGTGATGGCAGATG 0.333 NaN 0 0 0 0.004007 0 16 146 TSHZ1 10194 broad.mit.edu 37 18 72999153 72999153 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:72999153G>A uc002lly.2 + 2 2219 c.1656G>A c.(1654-1656)CAG>CAA p.Q552Q NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 597 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGGCCGTGCAGAGCGTGCAGG 0.682 NaN 0 0 0 0.009096 0 3 26 BTBD2 55643 broad.mit.edu 37 19 1993151 1993151 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:1993151C>G uc002lup.1 - 3 552 c.552G>C c.(550-552)CAG>CAC p.Q184H BTBD2_uc002luo.1_5'Flank NM_017797 NP_060267 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 184 BTB. cytoplasmic mRNA processing body protein binding ovary(1)|skin(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGCCAATCTGCACCTCGT 0.642 NaN 0 0 0 0.004482 0 7 44 NFIC 4782 broad.mit.edu 37 19 3382105 3382105 + Silent SNP G G A rs146650773 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:3382105G>A uc010xhi.1 + 2 488 c.426G>A c.(424-426)CCG>CCA p.P142P NFIC_uc002lxo.2_Silent_p.P133P|NFIC_uc010xhh.1_Silent_p.P133P|NFIC_uc002lxp.2_Silent_p.P142P|NFIC_uc010xhj.1_Silent_p.P142P|NFIC_uc002lxq.1_Silent_p.P94P NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 142 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AGGGCATCCCGCTGGAGAGCA 0.672 NaN 0 0 0 0.009096 0 4 130 CHAF1A 10036 broad.mit.edu 37 19 4428819 4428819 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:4428819C>G uc002mal.2 + 8 1636 c.1536C>G c.(1534-1536)CTC>CTG p.L512L NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 512 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TGAAAGACCTCAAAGGCCGGC 0.612 NaN Chromatin_Structure 0 0 0 0.001855 0 11 60 ZNRF4 148066 broad.mit.edu 37 19 5455804 5455804 + Missense_Mutation SNP G G A rs141487677 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:5455804G>A uc002mca.3 + 1 379 c.302G>A c.(301-303)CGG>CAG p.R101Q NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 101 Extracellular (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCAGTGGTACGGGCCGTGCTG 0.692 NaN 0 0 0 0.005443 0 18 76 MLLT1 4298 broad.mit.edu 37 19 6270699 6270699 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:6270699G>A uc002mek.2 - 2 248 c.84C>T c.(82-84)TTC>TTT p.F28F NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 28 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 AGTCGTGAGTGAACCCCTCCG 0.612 NaN T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 54 FBN3 84467 broad.mit.edu 37 19 8171100 8171100 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:8171100C>G uc002mjf.2 - 37 4726 c.4705G>C c.(4705-4707)GAG>CAG p.E1569Q NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1569 EGF-like 24; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CCTGGCAGCTCTTGGCACTCG 0.577 NaN 0 0 0 0.00308 0 7 56 MUC16 94025 broad.mit.edu 37 19 9025598 9025598 + Silent SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:9025598A>G uc002mkp.2 - 15 37060 c.36856T>C c.(36856-36858)TTG>CTG p.L12286L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12288 SEA 2.|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 CACCTGAGCAAGGTCAATCTG 0.527 NaN 0 0 0 0.00278 0 21 115 MRPL4 51073 broad.mit.edu 37 19 10369342 10369342 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:10369342C>T uc002mnm.2 + 9 874 c.720C>T c.(718-720)TTC>TTT p.F240F MRPL4_uc002mnn.2_Silent_p.F240F|MRPL4_uc002mno.2_Silent_p.F240F NM_146387 NP_666499 Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 isoform a 240 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TTAAGACCTTCAACTTGATCC 0.567 NaN 0 0 0 0.00308 0 7 95 DOCK6 57572 broad.mit.edu 37 19 11323951 11323951 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:11323951C>T uc002mqs.3 - 35 4433 c.4392G>A c.(4390-4392)CTG>CTA p.L1464L DOCK6_uc010xlq.1_Silent_p.L803L NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1464 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 GTAGGAGCCTCAGGCACAGGT 0.647 NaN 0 0 0 0.001984 0 6 28 MAST1 22983 broad.mit.edu 37 19 12985238 12985238 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:12985238C>T uc002mvm.2 + 26 4395 c.4267C>T c.(4267-4269)CGC>TGC p.R1423C NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1423 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GACAGGCCGGCGCAGCAGCTC 0.711 NaN 0 0 0 0.00308 0 7 30 NWD1 284434 broad.mit.edu 37 19 16908608 16908608 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:16908608G>A uc002neu.3 + 16 3792 c.3370G>A c.(3370-3372)GAT>AAT p.D1124N NWD1_uc002net.3_Missense_Mutation_p.D989N|NWD1_uc002nev.3_Missense_Mutation_p.D918N Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 1124 ATP binding skin(3)|ovary(2)|pancreas(2) 7 CATGGCCATGGATCTGGAACA 0.537 NaN 0 0 0 0.00333 0 23 221 PGPEP1 54858 broad.mit.edu 37 19 18466806 18466806 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:18466806G>C uc002nis.1 + 3 273 c.189G>C c.(187-189)GAG>GAC p.E63D PGPEP1_uc002nir.1_RNA|PGPEP1_uc002nit.1_5'UTR|PGPEP1_uc010xqg.1_5'UTR NM_017712 NP_060182 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I 63 cysteine-type peptidase activity 0 CCCTGTGGGAGAAGCACAGTC 0.567 NaN 0 0 0 0.001984 0 5 100 CILP2 148113 broad.mit.edu 37 19 19655890 19655890 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:19655890C>T uc002nmv.3 + 8 2621 c.2536C>T c.(2536-2538)CGG>TGG p.R846W CILP2_uc002nmw.3_Missense_Mutation_p.R852W NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 846 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GGGGTACCGTCGGACGGACCA 0.706 NaN 0 0 0 0.000602 0 4 27 ZNF99 7652 broad.mit.edu 37 19 22952087 22952087 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:22952087G>C uc010xrh.1 - 2 106 c.106C>G c.(106-108)CTG>GTG p.L36V NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACTCCTCCAGAGCGAATTCT 0.403 NaN 0 0 0 0.013537 0 11 99 CCDC123 84902 broad.mit.edu 37 19 33444672 33444672 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:33444672G>A uc002nty.2 - 4 430 c.341C>T c.(340-342)TCT>TTT p.S114F CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.S114F|CCDC123_uc002nua.2_Missense_Mutation_p.S114F|CCDC123_uc002nub.1_Missense_Mutation_p.S6F NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 114 centrosome|spindle pole 0 Esophageal squamous(110;0.137) GGATGGCAAAGAAGATCTTCT 0.443 NaN 0 0 0 0.007413 0 9 91 MLL4 9757 broad.mit.edu 37 19 36223466 36223466 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:36223466G>C uc010eei.2 + 29 6016 c.6016G>C c.(6016-6018)GAG>CAG p.E2006Q NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 2006 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTTCCAGGAAGAGATTGTAGC 0.667 NaN 0 0 0 0.004482 0 8 41 ZNF568 374900 broad.mit.edu 37 19 37441804 37441804 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:37441804G>A uc002ofc.2 + 7 2264 c.1749G>A c.(1747-1749)GAG>GAA p.E583E ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.E507E|ZNF568_uc010efe.2_Silent_p.E507E|ZNF568_uc010eff.1_Intron NM_198539 NP_940941 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACACAGGGGAGAAACCCTATG 0.378 NaN 0 0 0 0.001168 0 5 93 PAF1 54623 broad.mit.edu 37 19 39880314 39880314 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:39880314G>A uc002old.2 - 4 433 c.258C>T c.(256-258)CTC>CTT p.L86L PAF1_uc002ole.1_Silent_p.L76L|PAF1_uc010xuv.1_Intron|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 86 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CAGGATTGATGAGATCGATGG 0.572 NaN 0 0 0 0.00308 0 7 96 MIA 8190 broad.mit.edu 37 19 41281508 41281508 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:41281508G>A uc002opb.3 + 1 209 c.61G>A c.(61-63)GGT>AGT p.G21S MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank NM_006533 NP_006524 Q16674 MIA_HUMAN melanoma inhibitory activity precursor 21 cell proliferation extracellular space growth factor activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GBM - Glioblastoma multiforme(1328;0.0199) CTCCGGACCTGGTGTCAGGGG 0.622 NaN 0 0 0 0.006214 0 8 194 ARHGEF1 9138 broad.mit.edu 37 19 42392170 42392170 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42392170G>C uc002orx.2 + 2 126 c.17G>C c.(16-18)CGA>CCA p.R6P ARHGEF1_uc002orw.1_Missense_Mutation_p.R6P|ARHGEF1_uc002ory.2_Missense_Mutation_p.R6P|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Missense_Mutation_p.R21P|ARHGEF1_uc002osb.2_Missense_Mutation_p.R21P NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 6 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GACTTCGCCCGAGGGGCGGTG 0.657 NaN 0 0 0 0.000602 0 4 24 ATP1A3 478 broad.mit.edu 37 19 42474362 42474362 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42474362G>C uc002osg.2 - 18 2671 c.2517C>G c.(2515-2517)CTC>CTG p.L839L ATP1A3_uc010xwf.1_Silent_p.L850L|ATP1A3_uc010xwg.1_Silent_p.L809L|ATP1A3_uc010xwh.1_Silent_p.L852L|ATP1A3_uc002osh.2_Silent_p.L839L NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 839 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CCATGCTGATGAGTCTCTCAT 0.612 NaN 0 0 0 0.00308 0 7 66 ZNF526 116115 broad.mit.edu 37 19 42728808 42728808 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42728808G>A uc002osz.1 + 3 409 c.253G>A c.(253-255)GAG>AAG p.E85K NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) TGCTGTCTCAGAGGAGGAGGC 0.582 NaN 0 0 0 0.004482 0 9 55 ZNF404 342908 broad.mit.edu 37 19 44377405 44377405 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:44377405G>A uc002oxs.3 - 2 961 c.952C>T c.(952-954)CAT>TAT p.H318Y NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 321 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TCACCAGTATGACTTCTTTGA 0.373 NaN 0 0 0 0.001168 0 5 50 ZNF155 7711 broad.mit.edu 37 19 44500376 44500376 + Missense_Mutation SNP C C G rs138952990 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:44500376C>G uc002oxy.1 + 5 572 c.367C>G c.(367-369)CAG>GAG p.Q123E ZNF155_uc002oxz.1_Missense_Mutation_p.Q123E|ZNF155_uc010xwt.1_Missense_Mutation_p.Q134E NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 123 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) AAATAACTCTCAGTTCTTTGA 0.463 NaN 0 0 0 0.001984 0 7 100 IRF2BP1 26145 broad.mit.edu 37 19 46387392 46387392 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:46387392C>T uc002pds.1 - 1 1985 c.1641G>A c.(1639-1641)CCG>CCA p.P547P NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 547 Cys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TGTCTCCGCTCGGGCAGTACA 0.637 NaN 0 0 0 0.001168 0 4 37 TSKS 60385 broad.mit.edu 37 19 50243088 50243088 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:50243088C>A uc002ppm.2 - 11 1735 c.1724G>T c.(1723-1725)GGA>GTA p.G575V NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 575 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) ACTGCTGCCTCCCCCCATTGT 0.552 NaN 1 0 0.000219431 0.00245 0.000228178 13 102 ZNF528 84436 broad.mit.edu 37 19 52909217 52909217 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:52909217C>A uc002pzh.2 + 5 499 c.73C>A c.(73-75)CTG>ATG p.L25M ZNF528_uc002pzi.2_Translation_Start_Site NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GTGGAAATGCCTGGACCCTGC 0.488 NaN 1 0 8.69298e-16 0.006999 9.57025e-16 42 145 C19orf51 352909 broad.mit.edu 37 19 55672075 55672075 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:55672075C>T uc002qji.1 - 9 1015 c.981G>A c.(979-981)GCG>GCA p.A327A TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Silent_p.A142A|C19orf51_uc002qjj.1_Silent_p.A374A|C19orf51_uc002qjk.1_Silent_p.A273A|C19orf51_uc002qjl.1_Silent_p.A395A Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 327 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CGGTGGCTCTCGCGCGCCCCC 0.682 NaN OREG0025678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 61 NLRP8 126205 broad.mit.edu 37 19 56466276 56466276 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:56466276C>G uc002qmh.2 + 3 923 c.852C>G c.(850-852)CTC>CTG p.L284L NLRP8_uc010etg.2_Silent_p.L284L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 284 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) TTCTGCTGCTCTTGGATGGCT 0.522 NaN 0 0 0 0.008361 0 26 183 PEG3 5178 broad.mit.edu 37 19 57328268 57328268 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:57328268G>A uc002qnu.2 - 7 1893 c.1542C>T c.(1540-1542)TTC>TTT p.F514F ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.F485F|PEG3_uc002qnv.2_Silent_p.F514F|PEG3_uc002qnw.2_Silent_p.F390F|PEG3_uc002qnx.2_Silent_p.F388F|PEG3_uc010etr.2_Silent_p.F514F NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 514 C2H2-type 2. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CACTCTTATTGAAGGTCTCTC 0.458 NaN 0 0 0 0.008361 0 25 105 ZNF543 125919 broad.mit.edu 37 19 57840469 57840469 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:57840469G>A uc002qoi.1 + 4 1984 c.1639G>A c.(1639-1641)GGC>AGC p.G547S NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 547 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTTAATCGCGGCTCATCCCT 0.463 NaN 0 0 0 0.001984 0 5 74 ZNF749 388567 broad.mit.edu 37 19 57956103 57956104 + Missense_Mutation DNP TG TG CC TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:57956103_57956104TG>CC uc002qoq.2 + 3 1841_1842 c.1587_1588TG>CC c.(1585-1590)CATGAG>CACCAG p.E530Q ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 530 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCATGAGAAAATCCA 0.45 NaN 0 0 0 0.004672 0 3 89 WDR35 57539 broad.mit.edu 37 2 20138060 20138060 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:20138060G>A uc002rdi.2 - 19 2170 c.2062C>T c.(2062-2064)CAG>TAG p.Q688* WDR35_uc002rdj.2_Nonsense_Mutation_p.Q677*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.Q253*|WDR35_uc002rdk.3_Nonsense_Mutation_p.Q253* NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 688 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTATGAACTGAGATGCATCT 0.418 NaN 0 0 0 0.001984 0 5 99 PFN4 375189 broad.mit.edu 37 2 24345319 24345319 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:24345319C>G uc002rfa.1 - 2 263 c.87G>C c.(85-87)CGG>CGC p.R29R LOC375190_uc002rew.2_Intron|LOC375190_uc010ykl.1_5'Flank|LOC375190_uc002rfb.2_5'Flank NM_199346 NP_955378 Q8NHR9 PROF4_HUMAN profilin family, member 4 29 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACACAAGCTCCGCTCCTGGA 0.413 NaN 0 0 0 0.008291 0 8 103 ITSN2 50618 broad.mit.edu 37 2 24484496 24484496 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:24484496G>A uc002rfe.2 - 21 2729 c.2471C>T c.(2470-2472)GCT>GTT p.A824V ITSN2_uc002rff.2_Missense_Mutation_p.A797V|ITSN2_uc002rfg.2_Missense_Mutation_p.A824V NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 824 KAVSPK -> FAAAST (in Ref. 6; AAD00899). endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAGATACAGCTTTTTCATT 0.363 NaN 0 0 0 0.004482 0 8 66 ZNF513 130557 broad.mit.edu 37 2 27600473 27600473 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:27600473G>A uc002rkk.2 - 4 1765 c.1565C>T c.(1564-1566)TCT>TTT p.S522F ZNF513_uc002rkj.2_Missense_Mutation_p.S460F NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 522 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCCCCGAGAGCTCAAAAC 0.632 NaN 0 0 0 0.000602 0 5 49 EIF2AK2 5610 broad.mit.edu 37 2 37374916 37374916 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:37374916C>G uc010ynh.1 - 3 591 c.34G>C c.(34-36)GAG>CAG p.E12Q EIF2AK2_uc010fab.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010yng.1_Missense_Mutation_p.E12Q|EIF2AK2_uc010fac.2_Missense_Mutation_p.E12Q|EIF2AK2_uc010fad.2_Missense_Mutation_p.E12Q NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 12 DRBM 1. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) TTAAGTTCCTCCATGAAGAAA 0.398 NaN 0 0 0 0.008871 0 16 127 PLEKHH2 130271 broad.mit.edu 37 2 43968150 43968150 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:43968150C>G uc010yny.1 + 21 3272 c.3189C>G c.(3187-3189)CTC>CTG p.L1063L PLEKHH2_uc002rtf.3_Silent_p.L1062L NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1063 MyTH4.|Helical; (Potential). cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGGCTCCTCAGGCTTCACC 0.507 NaN 0 0 0 0.001855 0 12 76 CCDC88A 55704 broad.mit.edu 37 2 55561583 55561583 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:55561583C>T uc002ryv.2 - 15 3216 c.2374G>A c.(2374-2376)GAA>AAA p.E792K CCDC88A_uc010yoz.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E792K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E694K|CCDC88A_uc002ryu.2_Missense_Mutation_p.E75K|CCDC88A_uc002ryw.2_Missense_Mutation_p.E75K NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 792 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GTTTGATTTTCCATCTCTAAG 0.318 NaN 0 0 0 0.009096 0 3 40 GKN2 200504 broad.mit.edu 37 2 69173523 69173523 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:69173523C>T uc002sfa.2 - 5 494 c.385G>A c.(385-387)GAC>AAC p.D129N GKN2_uc002sfb.3_Missense_Mutation_p.D129N NM_182536 NP_872342 Q86XP6 GKN2_HUMAN trefoil factor interactions(z) 1 precursor 129 BRICHOS. extracellular region 0 CAATCCACGTCTTTGATCAGA 0.443 NaN 0 0 0 0.00245 0 11 207 ANXA4 307 broad.mit.edu 37 2 70037783 70037783 + Missense_Mutation SNP G G A rs144937233 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:70037783G>A uc002sfr.3 + 7 682 c.455G>A c.(454-456)CGA>CAA p.R152Q ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Missense_Mutation_p.R130Q|ANXA4_uc010yqo.1_Missense_Mutation_p.R68Q NM_001153 NP_001144 P09525 ANXA4_HUMAN annexin IV 150 Annexin 2. anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity 0 ATGTTCCAGCGAGTGCTGGTG 0.473 NaN 0 0 0 0.008291 0 7 56 CLEC4F 165530 broad.mit.edu 37 2 71043444 71043444 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:71043444T>A uc002shf.2 - 4 1146 c.1069A>T c.(1069-1071)ACT>TCT p.T357S CLEC4F_uc010yqv.1_Missense_Mutation_p.T357S NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 357 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TGAATCTGAGTATCTGTCTGG 0.408 NaN 0 0 0 0.001984 0 7 72 CNNM4 26504 broad.mit.edu 37 2 97475114 97475114 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:97475114C>T uc002swx.2 + 7 2286 c.2188C>T c.(2188-2190)CAG>TAG p.Q730* CNNM4_uc010yuy.1_Missense_Mutation_p.S246L NM_020184 NP_064569 Q6P4Q7 CNNM4_HUMAN cyclin M4 730 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.Q730*(1) breast(2)|ovary(1) 3 GAACAGCCCTCAGTTTCCCAT 0.577 NaN 0 0 0 0.001168 0 5 40 TBC1D8 11138 broad.mit.edu 37 2 101655103 101655103 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:101655103C>T uc010fiv.2 - 7 1181 c.1050G>A c.(1048-1050)GAG>GAA p.E350E TBC1D8_uc010yvw.1_Silent_p.E365E|TBC1D8_uc002tau.3_Silent_p.E107E NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 350 GRAM 2. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 CCTCCATCTTCTCGATGCTCA 0.557 NaN 0 0 0 0.003163 0 11 100 IL1F8 27177 broad.mit.edu 37 2 113783751 113783751 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:113783751T>C uc002tiq.1 - 5 424 c.320A>G c.(319-321)CAC>CGC p.H107R NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN interleukin 1 family, member 8 isoform 1 107 immune response extracellular space cytokine activity|interleukin-1 receptor binding ovary(1) 1 tatgcatgtgtgaattccaac 0 NaN 0 0 0 0.013537 0 9 67 FAM123C 205147 broad.mit.edu 37 2 131520580 131520580 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:131520580G>C uc002trw.2 + 2 1125 c.935G>C c.(934-936)AGT>ACT p.S312T FAM123C_uc010fmv.2_Missense_Mutation_p.S312T|FAM123C_uc010fms.1_Missense_Mutation_p.S312T|FAM123C_uc010fmt.1_Missense_Mutation_p.S312T|FAM123C_uc010fmu.1_Missense_Mutation_p.S312T NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 312 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TTCTGGGACAGTGTGAATCGC 0.647 NaN 0 0 0 0.00308 0 6 35 MCM6 4175 broad.mit.edu 37 2 136610439 136610439 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:136610439C>T uc002tuw.2 - 12 1749 c.1673G>A c.(1672-1674)AGA>AAA p.R558K NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 558 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TTCCTCAATTCTTGAATGCAA 0.368 NaN 0 0 0 0.001984 0 7 46 MARCH7 64844 broad.mit.edu 37 2 160604796 160604796 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:160604796C>G uc002uax.2 + 5 1117 c.995C>G c.(994-996)TCA>TGA p.S332* MARCH7_uc010foq.2_Nonsense_Mutation_p.S332*|MARCH7_uc010zcn.1_Nonsense_Mutation_p.S276*|MARCH7_uc010for.2_Nonsense_Mutation_p.S294*|MARCH7_uc002uay.2_RNA NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 332 Ser-rich. ligase activity|zinc ion binding 0 AATGTACCATCAGCTTCTGAA 0.413 NaN 0 0 0 0.009096 0 3 39 LY75 4065 broad.mit.edu 37 2 160698844 160698844 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:160698844G>C uc002ubc.3 - 24 3261 c.3192C>G c.(3190-3192)CTC>CTG p.L1064L LY75_uc002ubb.3_Silent_p.L1064L|LY75_uc010fos.2_Silent_p.L1064L NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1064 Extracellular (Potential).|C-type lectin 6. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TTTGGAGGTTGAGTATTAGGG 0.403 NaN 0 0 0 0.004482 0 7 47 SLC4A10 57282 broad.mit.edu 37 2 162813607 162813607 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:162813607C>T uc002ubx.3 + 20 2834 c.2650C>T c.(2650-2652)CAT>TAT p.H884Y SLC4A10_uc002uby.3_Missense_Mutation_p.H854Y|SLC4A10_uc010zcs.1_Missense_Mutation_p.H865Y NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 884 Extracellular (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 CTCCATCACTCATGTCAATAG 0.493 NaN 0 0 0 0.000602 0 3 20 METTL5 29081 broad.mit.edu 37 2 170681089 170681089 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:170681089T>C uc002ufn.2 - 1 265 c.19A>G c.(19-21)AAG>GAG p.K7E UBR3_uc010zdi.1_5'Flank|METTL5_uc002ufo.2_Missense_Mutation_p.K7E|METTL5_uc002ufp.2_Missense_Mutation_p.K7E|METTL5_uc002ufq.1_Missense_Mutation_p.K7E NM_014168 NP_054887 Q9NRN9 METL5_HUMAN methyltransferase like 5 7 methyltransferase activity|nucleic acid binding central_nervous_system(1) 1 TCTAGTTCCTTAAGCCTTACT 0.468 NaN OREG0015052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 12 98 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:179440352A>C uc010zfg.1 - 275 63027 c.62803T>G c.(62803-62805)TGT>GGT p.C20935G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.C14630G|TTN_uc010zfi.1_Missense_Mutation_p.C14563G|TTN_uc010zfj.1_Missense_Mutation_p.C14438G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21862 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAATATTCACACCCTTCAGAC 0.438 NaN 0 0 0 0.005443 0 9 72 TTN 7273 broad.mit.edu 37 2 179611576 179611576 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:179611576G>C uc002unb.2 - 46 15775 c.15551C>G c.(15550-15552)TCT>TGT p.S5184C TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8703 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCAATAAAAGATGGAGGCAT 0.413 NaN 0 0 0 0.001168 0 4 79 PLCL1 5334 broad.mit.edu 37 2 198948543 198948543 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:198948543C>T uc010fsp.2 + 2 593 c.302C>T c.(301-303)TCG>TTG p.S101L PLCL1_uc002uuv.3_Missense_Mutation_p.S22L NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 101 Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AGCATGCCATCGGAAAAGAAA 0.383 NaN 0 0 0 0.001984 0 6 47 AOX1 316 broad.mit.edu 37 2 201505863 201505863 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:201505863G>C uc002uvx.2 + 24 2712 c.2611G>C c.(2611-2613)GAG>CAG p.E871Q AOX1_uc010zhf.1_Missense_Mutation_p.E427Q|AOX1_uc010fsu.2_Missense_Mutation_p.E237Q NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 871 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CCTGGACATGGAGCATTACAG 0.443 NaN 0 0 0 0.009096 0 3 45 CASP10 843 broad.mit.edu 37 2 202073797 202073797 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:202073797C>T uc002uxl.1 + 9 1345 c.927C>T c.(925-927)ATC>ATT p.I309I CASP10_uc002uxj.1_Silent_p.I309I|CASP10_uc002uxk.1_Silent_p.I266I|CASP10_uc010fta.1_Silent_p.I242I|CASP10_uc002uxm.1_Silent_p.I266I|CASP10_uc010ftb.1_RNA NM_032974 NP_116756 Q92851 CASPA_HUMAN caspase 10 isoform b preproprotein 309 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding skin(3)|ovary(1)|pancreas(1)|breast(1) 6 AAACAGAGATCCTGAGTCATG 0.264 NaN 0 0 0 0.001168 0 6 42 CDK5R2 8941 broad.mit.edu 37 2 219825385 219825385 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:219825385C>G uc002vjf.2 + 1 988 c.843C>G c.(841-843)CTC>CTG p.L281L NM_003936 NP_003927 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 281 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTACCCACTCAAGCCCTTCC 0.677 NaN 0 0 0 0.001984 0 6 120 DNER 92737 broad.mit.edu 37 2 230450662 230450662 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:230450662T>C uc002vpv.2 - 4 906 c.759A>G c.(757-759)ATA>ATG p.I253M DNER_uc010zly.1_Translation_Start_Site NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 253 Extracellular (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TTCGTCCATCTATGAGGGAGC 0.517 NaN 0 0 0 0.004482 0 8 58 HTR2B 3357 broad.mit.edu 37 2 231988456 231988456 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:231988456G>C uc002vro.2 - 2 528 c.23C>G c.(22-24)TCT>TGT p.S8C PSMD1_uc002vrm.1_Intron|PSMD1_uc010fxu.1_Intron|PSMD1_uc002vrn.1_Intron|HTR2B_uc010fxv.2_Missense_Mutation_p.S8C NM_000867 NP_000858 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B 8 Extracellular (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) TTGAAGTTCAGACACTCTGTA 0.423 NaN 0 0 0 0.007413 0 15 111 ATG16L1 55054 broad.mit.edu 37 2 234191385 234191385 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:234191385G>A uc002vty.2 + 12 1446 c.1189G>A c.(1189-1191)GAT>AAT p.D397N ATG16L1_uc002vtx.1_Missense_Mutation_p.D234N|ATG16L1_uc002vua.2_Missense_Mutation_p.D378N|ATG16L1_uc002vub.2_Missense_Mutation_p.D255N|ATG16L1_uc002vtz.2_Missense_Mutation_p.D218N|ATG16L1_uc002vud.3_Missense_Mutation_p.D313N NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 397 WD 2. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GACTGTGGATGATTATCGATT 0.413 NaN 0 0 0 0.008291 0 8 75 PLCB1 23236 broad.mit.edu 37 20 8696958 8696958 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:8696958G>C uc002wnb.2 + 13 1301 c.1298G>C c.(1297-1299)GGG>GCG p.G433A PLCB1_uc010zrb.1_Missense_Mutation_p.G332A|PLCB1_uc002wna.2_Missense_Mutation_p.G433A|PLCB1_uc002wnc.1_Missense_Mutation_p.G332A|PLCB1_uc002wnd.1_Missense_Mutation_p.G10A NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 433 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CTGATCTTTGGGGATGCCCTT 0.468 NaN 0 0 0 0.004482 0 8 40 JAG1 182 broad.mit.edu 37 20 10620148 10620148 + Nonstop_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:10620148A>G uc002wnw.2 - 26 4171 c.3655T>C c.(3655-3657)TAG>CAG p.*1219Q NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 1219 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 GCGGTCTGCTATACGATGTAC 0.522 NaN Alagille_Syndrome 0 0 0 0.008871 0 18 178 CRNKL1 51340 broad.mit.edu 37 20 20022983 20022983 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:20022983C>T uc002wrs.2 - 9 1665 c.1633G>A c.(1633-1635)GAA>AAA p.E545K NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 545 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 GCCTCCAATTCTTCATAGAGT 0.413 NaN 0 0 0 0.008291 0 9 92 MYH7B 57644 broad.mit.edu 37 20 33577919 33577919 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:33577919C>G uc002xbi.1 + 19 2088 c.1996C>G c.(1996-1998)CTC>GTC p.L666V MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 624 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCTGGCGACTCTCTATGAGAA 0.552 NaN 0 0 0 0.008291 0 11 134 KIAA0406 9675 broad.mit.edu 37 20 36641489 36641489 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:36641489T>C uc002xhl.2 - 3 939 c.730A>G c.(730-732)AGC>GGC p.S244G KIAA0406_uc002xhm.2_Missense_Mutation_p.S244G NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 244 binding 0 Myeloproliferative disorder(115;0.00874) ATAATGAAGCTCACTGTCTTG 0.443 NaN 0 0 0 0.00245 0 12 150 SPINT4 391253 broad.mit.edu 37 20 44352659 44352659 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:44352659G>C uc002xpe.1 + 2 275 c.256G>C c.(256-258)GAA>CAA p.E86Q NM_178455 NP_848550 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 86 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 Myeloproliferative disorder(115;0.028) GCTTAAAATAGAACGTGAAGT 0.393 NaN 0 0 0 0.006214 0 7 122 NCOA3 8202 broad.mit.edu 37 20 46279914 46279914 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:46279914C>T uc002xtk.2 + 20 4045 c.3840C>T c.(3838-3840)TTC>TTT p.F1280F NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1280 Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 CCCAGGCCTTCAGCCCACCTC 0.308 NaN 0 0 0 0.009096 0 4 61 ARFGEF2 10564 broad.mit.edu 37 20 47605103 47605103 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:47605103G>A uc002xtx.3 + 18 2589 c.2437G>A c.(2437-2439)GAG>AAG p.E813K ARFGEF2_uc010zyf.1_Missense_Mutation_p.E106K NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 813 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCTGCCAGAAGAGTATCTCTC 0.313 NaN 0 0 0 0.00308 0 8 153 PTGIS 5740 broad.mit.edu 37 20 48124546 48124546 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:48124546C>G uc002xut.2 - 10 1468 c.1414G>C c.(1414-1416)GAG>CAG p.E472Q PTGIS_uc010zyi.1_Missense_Mutation_p.E333Q NM_000961 NP_000952 Q16647 PTGIS_HUMAN prostaglandin I2 synthase 472 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TCAGGGATCTCCACATCTGCG 0.572 NaN 0 0 0 0.008291 0 10 72 SALL4 57167 broad.mit.edu 37 20 50401158 50401158 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:50401158C>G uc002xwh.3 - 4 2909 c.2808G>C c.(2806-2808)GAG>GAC p.E936D SALL4_uc010gii.2_Missense_Mutation_p.E499D|SALL4_uc002xwi.3_Missense_Mutation_p.E159D NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 936 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCATGGTGTTCTCGATGGCCA 0.493 NaN 0 0 0 0.004482 0 8 94 ZFP64 55734 broad.mit.edu 37 20 50768754 50768754 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:50768754C>T uc002xwl.2 - 6 2326 c.1977G>A c.(1975-1977)CAG>CAA p.Q659Q ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Silent_p.Q657Q|ZFP64_uc002xwn.2_Silent_p.Q605Q NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGGAGTAGGTCTGCTTGGGTA 0.547 NaN 0 0 0 0.001168 0 4 126 TAF4 6874 broad.mit.edu 37 20 60578285 60578285 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:60578285G>A uc002ybs.2 - 9 2417 c.2417C>T c.(2416-2418)TCT>TTT p.S806F NM_003185 NP_003176 O00268 TAF4_HUMAN TBP-associated factor 4 806 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|pancreas(1) 3 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CGAGACAGCAGAAAGGGCTTT 0.493 NaN 0 0 0 0.00308 0 7 111 EEF1A2 1917 broad.mit.edu 37 20 62120317 62120317 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62120317C>A uc002yfd.1 - 6 1319 c.1218G>T c.(1216-1218)CCG>CCT p.P406P EEF1A2_uc002yfe.1_Silent_p.P406P|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 406 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TGGGCTTTCCCGGCACCATCT 0.647 NaN 1 0 6.40141e-05 0.010729 6.70305e-05 10 72 TPD52L2 7165 broad.mit.edu 37 20 62500783 62500783 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62500783G>C uc002yhc.2 + 2 283 c.154G>C c.(154-156)GAG>CAG p.E52Q TPD52L2_uc002ygy.2_Missense_Mutation_p.E52Q|TPD52L2_uc002ygz.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yha.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhb.2_Missense_Mutation_p.E52Q|TPD52L2_uc002yhd.2_Missense_Mutation_p.E52Q|TPD52L2_uc011abk.1_Intron|TPD52L2_uc011abl.1_Missense_Mutation_p.E29Q NM_003288 NP_003279 O43399 TPD54_HUMAN tumor protein D52-like 2 isoform e 52 Potential. regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity ovary(1)|skin(1) 2 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) GCTCAGGGCTGAGCTTACCAA 0.597 NaN 0 0 0 0.004482 0 6 78 PRPF6 24148 broad.mit.edu 37 20 62659889 62659889 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62659889A>T uc002yho.2 + 18 2566 c.2398A>T c.(2398-2400)ATG>TTG p.M800L PRPF6_uc002yhp.2_Missense_Mutation_p.M760L NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 800 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AAATACACTCATGGCCAAGGC 0.652 NaN 0 0 0 0.013537 0 11 122 PCMTD2 55251 broad.mit.edu 37 20 62896743 62896743 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62896743C>T uc002yil.3 + 4 743 c.543C>T c.(541-543)CTC>CTT p.L181L PCMTD2_uc002yim.3_Silent_p.L181L NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 181 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGAATCTTCTCAAAGTGGGAG 0.368 NaN 0 0 0 0.006214 0 8 107 C21orf29 54084 broad.mit.edu 37 21 45950980 45950980 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr21:45950980C>T uc002zfe.1 - 4 645 c.579G>A c.(577-579)GTG>GTA p.V193V C21orf29_uc010gpv.1_Silent_p.V125V NM_144991 NP_659428 Q8WU66 TSEAR_HUMAN chromosome 21 open reading frame 29 precursor 193 TSP N-terminal. cell adhesion extracellular region structural molecule activity 0 GAGCTCCTTTCACTGACAGGG 0.567 NaN 0 0 0 0.000602 0 4 44 MRPL40 64976 broad.mit.edu 37 22 19422269 19422269 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:19422269C>T uc002zpg.2 + 3 190 c.148C>T c.(148-150)CTT>TTT p.L50F HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|MRPL40_uc002zph.2_Missense_Mutation_p.L6F NM_003776 NP_003767 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 precursor 50 anatomical structure morphogenesis mitochondrial ribosome|nucleus 0 Colorectal(54;0.0993) ATCAGAACCTCTTCGAAAAAA 0.383 NaN 0 0 0 0.004672 0 3 22 GGT1 2678 broad.mit.edu 37 22 25023891 25023891 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:25023891C>A uc003aan.1 + 13 1768 c.1281C>A c.(1279-1281)CCC>CCA p.P427P GGT1_uc003aas.1_Silent_p.P427P|GGT1_uc003aat.1_Silent_p.P427P|GGT1_uc003aau.1_Silent_p.P427P|GGT1_uc003aav.1_Silent_p.P427P|GGT1_uc003aaw.1_Silent_p.P427P|GGT1_uc003aax.1_Silent_p.P427P|GGT1_uc003aay.1_Silent_p.P83P NM_013430 NP_038347 P19440 GGT1_HUMAN gamma-glutamyltransferase 1 precursor 427 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding 0 Glutathione(DB00143) TCAGCTCTCCCAGCATCACCA 0.617 NaN 1 0 2.31682e-05 0.003163 2.43876e-05 12 201 MYO18B 84700 broad.mit.edu 37 22 26286783 26286783 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:26286783G>A uc003abz.1 + 26 4625 c.4375G>A c.(4375-4377)GTG>ATG p.V1459M MYO18B_uc003aca.1_Missense_Mutation_p.V1340M|MYO18B_uc010guy.1_Missense_Mutation_p.V1341M|MYO18B_uc010guz.1_Missense_Mutation_p.V1340M|MYO18B_uc011aka.1_Missense_Mutation_p.V613M|MYO18B_uc011akb.1_Missense_Mutation_p.V972M NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1459 Potential.|Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 GGCCTGCCAGGTGCTGGAGAG 0.612 NaN 0 0 0 0.004482 0 7 37 HPS4 89781 broad.mit.edu 37 22 26860092 26860092 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:26860092C>T uc003acl.2 - 11 2163 c.1504G>A c.(1504-1506)GCA>ACA p.A502T HPS4_uc003aci.2_Missense_Mutation_p.A497T|HPS4_uc003acj.2_Missense_Mutation_p.A366T|HPS4_uc003ack.2_Missense_Mutation_p.A293T|HPS4_uc003acn.2_Missense_Mutation_p.A348T|HPS4_uc010gvd.1_Missense_Mutation_p.A520T|HPS4_uc003ach.2_Missense_Mutation_p.A237T NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 502 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 CCAGGGGCTGCGTGGCTTTCA 0.567 NaN Hermansky-Pudlak_syndrome 0 0 0 0.004878 0 27 148 DRG1 4733 broad.mit.edu 37 22 31822752 31822752 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:31822752C>G uc003aku.2 + 7 996 c.865C>G c.(865-867)CTG>GTG p.L289V NM_004147 NP_004138 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 289 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding central_nervous_system(1) 1 CTGGGACTATCTGAAACTAGT 0.398 NaN 0 0 0 0.00499 0 13 104 SSTR3 6753 broad.mit.edu 37 22 37603237 37603237 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:37603237C>T uc003ara.2 - 2 668 c.606G>A c.(604-606)TGG>TGA p.W202* SSTR3_uc003arb.2_Nonsense_Mutation_p.W202* NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 202 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 AGCCGGCTCGCCAGGCCGCCG 0.682 NaN 0 0 0 0.004672 0 3 16 ELFN2 114794 broad.mit.edu 37 22 37771107 37771107 + Silent SNP G G A rs150477054 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:37771107G>A uc003asq.3 - 3 1254 c.468C>T c.(466-468)ATC>ATT p.I156I NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 156 LRR 5.|Extracellular (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) AGGACAGGTCGATGCTGATGA 0.642 NaN 0 0 0 0.00308 0 7 86 ENTHD1 150350 broad.mit.edu 37 22 40139965 40139965 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:40139965C>T uc003ayg.2 - 7 1794 c.1543G>A c.(1543-1545)GAG>AAG p.E515K NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 515 ovary(2)|skin(1) 3 Melanoma(58;0.0749) GTGGAAAACTCCCCCCAGTGA 0.413 NaN 0 0 0 0.009096 0 4 38 ACO2 50 broad.mit.edu 37 22 41911842 41911842 + Silent SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:41911842A>T uc003bac.2 + 6 778 c.756A>T c.(754-756)GCA>GCT p.A252A ACO2_uc003bad.2_Silent_p.A252A NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 252 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 TGAAGGTGGCAGGCATCCTCA 0.612 NaN 0 0 0 0.004482 0 9 72 CRELD2 79174 broad.mit.edu 37 22 50318084 50318084 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:50318084G>A uc003bja.2 + 8 984 c.849G>A c.(847-849)AGG>AGA p.R283R CRELD2_uc010haj.2_Silent_p.R283R|CRELD2_uc010hal.2_Silent_p.R332R|CRELD2_uc010hak.2_Silent_p.R255R|CRELD2_uc010ham.2_Intron NM_024324 NP_077300 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 isoform b 283 FU 2. endoplasmic reticulum|extracellular region calcium ion binding 0 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GCTACGCGAGGGAGCACGGAC 0.597 NaN 0 0 0 0.000602 0 5 17 SBF1 6305 broad.mit.edu 37 22 50898430 50898430 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:50898430C>G uc003blh.2 - 26 3637 c.3442G>C c.(3442-3444)GAG>CAG p.E1148Q SBF1_uc011arx.1_Missense_Mutation_p.E812Q NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1148 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGGAAGGGCTCAGACTTGGCC 0.662 NaN 0 0 0 0.004482 0 7 63 CHL1 10752 broad.mit.edu 37 3 432754 432754 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:432754T>C uc003bou.2 + 21 2926 c.2655T>C c.(2653-2655)TTT>TTC p.F885F CHL1_uc003bot.2_Silent_p.F901F|CHL1_uc003bow.1_Silent_p.F885F|CHL1_uc011asi.1_Silent_p.F901F NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 885 Fibronectin type-III 3.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TAGATGCCTTTAGTGAATTTC 0.383 NaN 0 0 0 0.004007 0 13 46 CNTN6 27255 broad.mit.edu 37 3 1367618 1367618 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:1367618G>A uc003boz.2 + 9 1333 c.1066G>A c.(1066-1068)GAA>AAA p.E356K CNTN6_uc011asj.1_Missense_Mutation_p.E284K|CNTN6_uc003bpa.2_Missense_Mutation_p.E356K NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 356 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAAAATGGTGAACGACTCAA 0.353 NaN 0 0 0 0.004672 0 3 56 C3orf20 84077 broad.mit.edu 37 3 14798893 14798893 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:14798893G>A uc003byy.2 + 13 2360 c.1956G>A c.(1954-1956)GAG>GAA p.E652E C3orf20_uc003byz.2_Silent_p.E530E|C3orf20_uc003bza.2_Silent_p.E530E|C3orf20_uc003bzb.1_Silent_p.E153E|C3orf20_uc011avj.1_5'UTR NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 652 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AGGCCCGCGAGGGGCGCAGCC 0.667 NaN 0 0 0 0.004672 0 3 13 SLC4A7 9497 broad.mit.edu 37 3 27436152 27436152 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:27436152G>A uc003cdv.2 - 20 3018 c.2947C>T c.(2947-2949)CAT>TAT p.H983Y SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.H864Y|SLC4A7_uc011aww.1_Missense_Mutation_p.H992Y|SLC4A7_uc011awx.1_Missense_Mutation_p.H979Y|SLC4A7_uc011awy.1_Missense_Mutation_p.H975Y|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.H864Y|SLC4A7_uc011axb.1_Missense_Mutation_p.H979Y|SLC4A7_uc010hfl.2_Missense_Mutation_p.H533Y|SLC4A7_uc003cdw.2_Missense_Mutation_p.H859Y NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 983 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 CTGTTGACATGACTTATTGAC 0.443 NaN 0 0 0 0.00278 0 19 77 EOMES 8320 broad.mit.edu 37 3 27763709 27763709 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:27763709C>T uc003cdx.2 - 1 77 c.77G>A c.(76-78)CGA>CAA p.R26Q EOMES_uc003cdy.3_Missense_Mutation_p.R26Q|EOMES_uc010hfn.2_Missense_Mutation_p.R26Q|EOMES_uc011axc.1_Intron NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 26 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 GCTGCCGCCTCGCGCACTCTC 0.637 NaN 0 0 0 0.009096 0 4 9 ZNF35 7584 broad.mit.edu 37 3 44700638 44700638 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:44700638G>C uc003cnq.2 + 4 1004 c.783G>C c.(781-783)CAG>CAC p.Q261H ZNF35_uc003cnr.2_Missense_Mutation_p.Q101H NM_003420 NP_003411 P13682 ZNF35_HUMAN zinc finger protein 35 261 C2H2-type 2. cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCTTCATTCAGAGTGCAAACC 0.458 NaN 0 0 0 0.004482 0 7 55 LRRC2 79442 broad.mit.edu 37 3 46586552 46586552 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:46586552G>A uc010hji.2 - 3 681 c.317C>T c.(316-318)TCT>TTT p.S106F LRRC2_uc003cpu.3_Missense_Mutation_p.S106F NM_024512 NP_078788 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 106 ovary(1) 1 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GTGCTCCCCAGAAAGTTCAAA 0.537 NaN 0 0 0 0.012213 0 26 276 ALS2CL 259173 broad.mit.edu 37 3 46712990 46712990 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:46712990G>A uc003cqa.1 - 25 2959 c.2769C>T c.(2767-2769)CTC>CTT p.L923L ALS2CL_uc003cpx.1_Silent_p.L270L|ALS2CL_uc003cpy.1_RNA|ALS2CL_uc003cpz.1_Silent_p.L438L|ALS2CL_uc003cqb.1_Silent_p.L923L|ALS2CL_uc003cqc.1_RNA NM_147129 NP_667340 Q60I27 AL2CL_HUMAN ALS2 C-terminal like isoform 1 923 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CCAGGGCTGTGAGCAGGAAGT 0.592 NaN 0 0 0 0.000602 0 5 68 SETD2 29072 broad.mit.edu 37 3 47155366 47155366 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:47155366G>A uc003cqs.2 - 5 4768 c.4715C>T c.(4714-4716)TCG>TTG p.S1572L SETD2_uc003cqv.2_Missense_Mutation_p.S1561L NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1572 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGAACTTACGAAGGAAGGTC 0.279 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.004672 0 3 56 SMARCC1 6599 broad.mit.edu 37 3 47777526 47777526 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:47777526G>C uc003crq.2 - 5 692 c.574C>G c.(574-576)CAG>GAG p.Q192E SMARCC1_uc011bbd.1_Missense_Mutation_p.Q83E NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 192 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCTATTACCTGATGTCGTTTG 0.348 NaN 0 0 0 0.009096 0 3 58 QRICH1 54870 broad.mit.edu 37 3 49114384 49114384 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:49114384G>A uc010hkq.2 - 3 363 c.67C>T c.(67-69)CCG>TCG p.P23S QRICH1_uc003cvu.2_Missense_Mutation_p.P23S|QRICH1_uc003cvv.2_Missense_Mutation_p.P23S NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 23 CARD. ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CTGTGTTGCGGGACAGACCGT 0.488 NaN 0 0 0 0.004672 0 3 139 APEH 327 broad.mit.edu 37 3 49716346 49716346 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:49716346G>A uc003cxf.2 + 12 1522 c.1122G>A c.(1120-1122)CAG>CAA p.Q374Q APEH_uc010hkw.1_Silent_p.Q374Q NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 374 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTGACAGCCAGAGAGTGGTCT 0.602 NaN 0 0 0 0.004482 0 7 91 SLC38A3 10991 broad.mit.edu 37 3 50252990 50252990 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50252990G>A uc003cyn.3 + 6 529 c.388G>A c.(388-390)GAG>AAG p.E130K SLC38A3_uc011bdl.1_Missense_Mutation_p.E105K|SLC38A3_uc011bdm.1_Missense_Mutation_p.E61K NM_006841 NP_006832 Q99624 S38A3_HUMAN solute carrier family 38, member 3 130 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CCGTGCCTATGAGCAGCTGGG 0.627 NaN 0 0 0 0.000602 0 4 52 IFRD2 7866 broad.mit.edu 37 3 50327428 50327428 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50327428G>A uc011bdp.1 - 5 799 c.670C>T c.(670-672)CAC>TAC p.H224Y IFRD2_uc003czb.2_Missense_Mutation_p.H326Y NM_006764 NP_006755 Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 224 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) TGCAGGCTGTGAAACAGCTCC 0.637 NaN 0 0 0 0.000602 0 5 14 CISH 1154 broad.mit.edu 37 3 50645378 50645378 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50645378G>A uc003dax.2 - 3 618 c.437C>T c.(436-438)TCC>TTC p.S146F CISH_uc010hlq.2_Missense_Mutation_p.S163F NM_145071 NP_659508 Q9NSE2 CISH_HUMAN cytokine-inducible SH2-containing protein 146 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCGTGGCCTGGACAAGCAGTT 0.582 NaN 0 0 0 0.004672 0 3 44 RAD54L2 23132 broad.mit.edu 37 3 51664777 51664777 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:51664777G>A uc011bdt.1 + 6 780 c.655G>A c.(655-657)GAA>AAA p.E219K RAD54L2_uc003dbh.2_5'UTR|RAD54L2_uc011bdu.1_5'UTR|RAD54L2_uc003dbj.2_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 219 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGACAGCAGTGAATCTGTCAG 0.488 NaN 0 0 0 0.001168 0 4 36 PPM1M 132160 broad.mit.edu 37 3 52282434 52282434 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:52282434G>C uc003ddf.3 + 6 761 c.396G>C c.(394-396)CAG>CAC p.Q132H PPM1M_uc011bed.1_Missense_Mutation_p.Q293H|PPM1M_uc010hmd.2_Missense_Mutation_p.Q132H|PPM1M_uc003ddg.3_Missense_Mutation_p.Q81H|PPM1M_uc003ddh.3_5'Flank Q96MI6 PPM1M_HUMAN RecName: Full=Protein phosphatase 1M; EC=3.1.3.16; AltName: Full=Protein phosphatase 2C isoform eta; Short=PP2C-eta; Short=PP2CE; 132 PP2C-like. protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding 0 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) ACTTGGGACAGAAGGTTTTGT 0.612 NaN 0 0 0 0.009096 0 3 27 ITIH3 3699 broad.mit.edu 37 3 52835027 52835027 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:52835027C>T uc003dfv.2 + 11 1284 c.1248C>T c.(1246-1248)ATC>ATT p.I416I ITIH3_uc011bek.1_Silent_p.I416I NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 416 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGAATGCCATCGGGGGCAAGT 0.542 NaN 0 0 0 0.007291 0 25 172 OR5K1 26339 broad.mit.edu 37 3 98189002 98189002 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:98189002C>T uc003dsm.2 + 1 582 c.582C>T c.(580-582)ATC>ATT p.I194I NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 ATCCTTATATCAATGAACTGG 0.333 NaN 0 0 0 0.00245 0 14 159 GUCA1C 9626 broad.mit.edu 37 3 108626914 108626914 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:108626914G>T uc003dxj.2 - 4 653 c.585C>A c.(583-585)TCC>TCA p.S195S GUCA1C_uc003dxk.2_3'UTR NM_005459 NP_005450 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 195 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 CAGGAGATTTGGAGGAGTCTG 0.453 NaN 1 0 7.03913e-09 0.013537 7.63739e-09 7 38 PHLDB2 90102 broad.mit.edu 37 3 111603863 111603863 + Silent SNP C C T rs142557577 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:111603863C>T uc010hqa.2 + 2 1350 c.939C>T c.(937-939)CCC>CCT p.P313P PHLDB2_uc003dyc.2_Silent_p.P340P|PHLDB2_uc003dyd.2_Silent_p.P313P|PHLDB2_uc003dyg.2_Silent_p.P313P|PHLDB2_uc003dyh.2_Silent_p.P313P|PHLDB2_uc003dye.3_Silent_p.P313P|PHLDB2_uc003dyf.3_Silent_p.P313P NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 313 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 GGGCTTTACCCTATAAAACCT 0.448 NaN 0 0 0 0.001855 0 12 53 UROC1 131669 broad.mit.edu 37 3 126208126 126208126 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:126208126G>A uc003eiz.1 - 17 1733 c.1701C>T c.(1699-1701)TTC>TTT p.F567F UROC1_uc010hsi.1_Silent_p.F627F NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 567 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) CACCTGCACAGAAGGCAGAGC 0.468 NaN 0 0 0 0.003163 0 10 145 AMOTL2 51421 broad.mit.edu 37 3 134085127 134085127 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:134085127C>G uc003eqf.2 - 4 1475 c.1358G>C c.(1357-1359)AGA>ACA p.R453T AMOTL2_uc003eqg.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqh.1_Missense_Mutation_p.R395T|AMOTL2_uc003eqe.1_Missense_Mutation_p.R20T NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 395 Potential. large_intestine(1) 1 GCTCTCACCTCTAAGATCCCG 0.498 NaN 0 0 0 0.01441 0 39 359 EPHB1 2047 broad.mit.edu 37 3 134851765 134851765 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:134851765G>T uc003eqt.2 + 5 1391 c.1171G>T c.(1171-1173)GTC>TTC p.V391F EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 391 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GGAGTGCCGCGTCTCCATCAG 0.622 NaN 1 0 5.18039e-06 0.00308 5.51105e-06 7 39 PRR23A 729627 broad.mit.edu 37 3 138724624 138724624 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:138724624C>T uc011bms.1 - 1 487 c.487G>A c.(487-489)GAG>AAG p.E163K NM_001134659 NP_001128131 A6NEV1 PR23A_HUMAN proline rich 23A 163 0 TCCGGAAACTCGGGGTCCGCG 0.657 NaN 0 0 0 0.009096 0 4 20 CPB1 1360 broad.mit.edu 37 3 148562481 148562481 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:148562481G>C uc003ewl.2 + 8 728 c.705G>C c.(703-705)AAG>AAC p.K235N NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 235 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGGAGAAAGACTCGCTCCA 0.438 NaN 0 0 0 0.004482 0 7 105 WWTR1 25937 broad.mit.edu 37 3 149245664 149245664 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:149245664C>T uc003exe.2 - 4 880 c.864G>A c.(862-864)ATG>ATA p.M288I WWTR1_uc003exf.2_Missense_Mutation_p.M288I|WWTR1_uc011bns.1_Missense_Mutation_p.M288I|WWTR1_uc003exh.2_Missense_Mutation_p.M288I NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 288 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGATGGATCTCATGTCTGGGG 0.463 NaN 0 0 0 0.003163 0 14 201 MED12L 116931 broad.mit.edu 37 3 150906195 150906195 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:150906195C>T uc003eyp.2 + 12 1719 c.1681C>T c.(1681-1683)CTT>TTT p.L561F MED12L_uc011bnz.1_Missense_Mutation_p.L421F|MED12L_uc003eyn.2_Missense_Mutation_p.L561F|MED12L_uc003eyo.2_Missense_Mutation_p.L561F NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 561 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCATCCTCTCTTGCTGGATC 0.373 NaN 0 0 0 0.001984 0 5 66 RAP2B 5912 broad.mit.edu 37 3 152880590 152880590 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:152880590C>T uc003ezr.2 + 1 562 c.108C>T c.(106-108)ATC>ATT p.I36I NM_002886 NP_002877 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family precursor 36 Effector region (Probable). Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity lung(2) 2 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACCCGACCATCGAAGACTTTT 0.627 NaN 0 0 0 0.008291 0 9 117 PTX3 5806 broad.mit.edu 37 3 157160451 157160451 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:157160451G>A uc003fbl.3 + 3 972 c.829G>A c.(829-831)GAG>AAG p.E277K VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron NM_002852 NP_002843 P26022 PTX3_HUMAN pentraxin 3 precursor 277 Pentaxin. inflammatory response extracellular region central_nervous_system(1) 1 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGGAATTCAGAGGAAGGGCT 0.537 NaN 0 0 0 0.009096 0 3 71 SI 6476 broad.mit.edu 37 3 164724636 164724636 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:164724636G>T uc003fei.2 - 37 4436 c.4374C>A c.(4372-4374)CTC>CTA p.L1458L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1458 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCATCCATAGAGATTGTGAA 0.348 NaN HNSCC(35;0.089) 1 0 0.00116845 0.001168 0.00119841 5 58 BCHE 590 broad.mit.edu 37 3 165548711 165548711 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:165548711C>G uc003fem.3 - 2 271 c.111G>C c.(109-111)AAG>AAC p.K37N BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 37 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CTTTTCCATTCTTTGTTGCAA 0.408 NaN 0 0 0 0.000602 0 3 44 NAALADL2 254827 broad.mit.edu 37 3 174951896 174951896 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:174951896C>T uc003fit.2 + 3 808 c.721C>T c.(721-723)CAT>TAT p.H241Y NAALADL2_uc003fiu.1_Missense_Mutation_p.H234Y|NAALADL2_uc010hwy.1_Missense_Mutation_p.H63Y NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 241 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCAATGCTTTCATCCTAATGG 0.488 NaN 0 0 0 0.00278 0 22 102 ZMAT3 64393 broad.mit.edu 37 3 178742989 178742989 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:178742989C>A uc003fjg.2 - 6 945 c.686G>T c.(685-687)CGG>CTG p.R229L ZMAT3_uc010hxa.2_Missense_Mutation_p.R228L|ZMAT3_uc003fji.2_Missense_Mutation_p.R228L NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 229 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) AATTCTCTGCCGAGAGCGGGG 0.418 NaN 1 0 0.00024832 0.009096 0.000257326 4 22 PEX5L 51555 broad.mit.edu 37 3 179597763 179597763 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:179597763C>T uc003fki.1 - 5 589 c.459G>A c.(457-459)CAG>CAA p.Q153Q PEX5L_uc011bqd.1_Silent_p.Q110Q|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Silent_p.Q118Q|PEX5L_uc010hxd.1_Silent_p.Q151Q|PEX5L_uc011bqg.1_Silent_p.Q129Q|PEX5L_uc011bqh.1_Silent_p.Q94Q NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 153 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCTGGCCTCTCTGCTCAGCAT 0.512 NaN 0 0 0 0.013537 0 9 72 B3GNT5 84002 broad.mit.edu 37 3 182987890 182987890 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182987890G>A uc003flk.2 + 2 834 c.304G>A c.(304-306)GAT>AAT p.D102N MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.D102N|B3GNT5_uc003flm.2_Missense_Mutation_p.D102N NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 102 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGAAAACTATGATCGACGTTC 0.438 NaN 0 0 0 0.000602 0 5 67 B3GNT5 84002 broad.mit.edu 37 3 182988156 182988156 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988156G>C uc003flk.2 + 2 1100 c.570G>C c.(568-570)ATG>ATC p.M190I MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.M190I|B3GNT5_uc003flm.2_Missense_Mutation_p.M190I NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 190 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AATTTCTTATGACTGCTGATG 0.353 NaN 0 0 0 0.013537 0 12 152 B3GNT5 84002 broad.mit.edu 37 3 182988310 182988310 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988310G>A uc003flk.2 + 2 1254 c.724G>A c.(724-726)GAA>AAA p.E242K MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.E242K|B3GNT5_uc003flm.2_Missense_Mutation_p.E242K NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 242 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGTGTCCTATGAAATGTACCA 0.463 NaN 0 0 0 0.001168 0 5 88 B3GNT5 84002 broad.mit.edu 37 3 182988588 182988588 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988588G>C uc003flk.2 + 2 1532 c.1002G>C c.(1000-1002)AAG>AAC p.K334N MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Missense_Mutation_p.K334N|B3GNT5_uc003flm.2_Missense_Mutation_p.K334N NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 334 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCTTTGGAAGAATGCTACAG 0.343 NaN 0 0 0 0.000602 0 4 33 AHSG 197 broad.mit.edu 37 3 186331033 186331033 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:186331033C>T uc003fqk.3 + 1 184 c.103C>T c.(103-105)CCA>TCA p.P35S AHSG_uc003fqj.2_Missense_Mutation_p.P35S|AHSG_uc003fql.3_Missense_Mutation_p.P35S|AHSG_uc003fqm.3_Missense_Mutation_p.P35S|AHSG_uc010hyp.2_Missense_Mutation_p.P35S NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 35 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CTGCGATGATCCAGAAACTGA 0.502 NaN 0 0 0 0.001984 0 7 53 KIAA1530 57654 broad.mit.edu 37 4 1347046 1347046 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:1347046C>T uc003gde.3 + 5 1226 c.779C>T c.(778-780)TCT>TTT p.S260F NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 260 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CTGCCTGCCTCTGCAGGCCAC 0.706 NaN 0 0 0 0.004672 0 3 17 WHSC1 7468 broad.mit.edu 37 4 1957023 1957023 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:1957023A>C uc003gdz.3 + 13 2650 c.2474A>C c.(2473-2475)CAC>CCC p.H825P WHSC1_uc003geb.3_Missense_Mutation_p.H825P|WHSC1_uc003gec.3_Missense_Mutation_p.H825P|WHSC1_uc003ged.3_Missense_Mutation_p.H825P|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.H44P|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.H173P NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 825 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGAAGCGACACCACGCCCAC 0.612 NaN T IGH@ MM 0 0 0 0.013537 0 10 40 SEL1L3 23231 broad.mit.edu 37 4 25849234 25849234 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:25849234G>A uc003gru.3 - 2 567 c.415C>T c.(415-417)CAC>TAC p.H139Y NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 139 integral to membrane binding 0 CTGCTGGTGTGAAGATGTTTC 0.388 NaN 0 0 0 0.001168 0 5 41 ARAP2 116984 broad.mit.edu 37 4 36212143 36212143 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:36212143C>G uc003gsq.1 - 6 1694 c.1356G>C c.(1354-1356)CCG>CCC p.P452P ARAP2_uc003gsr.1_Silent_p.P452P NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 452 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TTGAGCTTAACGGATAACTGT 0.383 NaN 0 0 0 0.006214 0 7 67 TBC1D1 23216 broad.mit.edu 37 4 38037247 38037247 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:38037247G>C uc003gtb.2 + 8 1684 c.1341G>C c.(1339-1341)TTG>TTC p.L447F TBC1D1_uc011byd.1_Missense_Mutation_p.L447F|TBC1D1_uc010ifd.2_Missense_Mutation_p.L194F|TBC1D1_uc011byf.1_Missense_Mutation_p.L318F NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 447 nucleus Rab GTPase activator activity ovary(1) 1 AGAATGAATTGATTATTTCTT 0.333 NaN 0 0 0 0.006214 0 8 36 WDR19 57728 broad.mit.edu 37 4 39254832 39254832 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:39254832G>C uc003gtv.2 + 25 2950 c.2796G>C c.(2794-2796)CTG>CTC p.L932L WDR19_uc011byi.1_Silent_p.L772L|WDR19_uc003gtw.1_Silent_p.L529L NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 932 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GCATCTATCTGGATCACCTCA 0.348 NaN 0 0 0 0.006214 0 8 56 GABRA2 2555 broad.mit.edu 37 4 46390673 46390673 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:46390673G>A uc003gxc.3 - 1 724 c.51C>T c.(49-51)TTC>TTT p.F17F GABRA2_uc010igc.2_Silent_p.F17F|GABRA2_uc011bzc.1_5'UTR|GABRA2_uc003gxe.2_Silent_p.F17F|GABRA2_uc010igd.1_Silent_p.F17F NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 17 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCCACACCAAGAAAACAAAAA 0.363 NaN 0 0 0 0.013537 0 9 120 GABRA4 2557 broad.mit.edu 37 4 46973161 46973161 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:46973161C>T uc003gxg.2 - 7 952 c.813G>A c.(811-813)GTG>GTA p.V271V NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 271 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAGAAAGAATCACTGTCATAA 0.363 NaN 0 0 0 0.004482 0 9 32 EPHA5 2044 broad.mit.edu 37 4 66280023 66280023 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:66280023C>T uc003hcy.2 - 7 1859 c.1666G>A c.(1666-1668)GAG>AAG p.E556K EPHA5_uc003hcx.2_Missense_Mutation_p.E487K|EPHA5_uc003hcz.2_Missense_Mutation_p.E556K|EPHA5_uc011cah.1_Missense_Mutation_p.E556K|EPHA5_uc011cai.1_Missense_Mutation_p.E556K|EPHA5_uc003hda.2_Missense_Mutation_p.E556K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 556 Extracellular (Potential).|Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTTTCAAACTCAAATCTTCGA 0.438 NaN TSP Lung(17;0.13) 0 0 0 0.003163 0 9 74 YTHDC1 91746 broad.mit.edu 37 4 69188522 69188522 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:69188522G>A uc003hdx.2 - 11 1899 c.1546C>T c.(1546-1548)CAG>TAG p.Q516* YTHDC1_uc003hdy.2_Nonsense_Mutation_p.Q498* NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 516 Arg-rich. upper_aerodigestive_tract(1)|ovary(1) 2 GATCGGGGCTGAGAATGCATT 0.463 NaN 0 0 0 0.010729 0 12 69 UGT2B10 7365 broad.mit.edu 37 4 69874575 69874575 + Nonsense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:69874575G>T uc011cao.1 - 8 1332 c.1196C>A c.(1195-1197)TCA>TAA p.S399* UGT2B10_uc011can.1_Nonsense_Mutation_p.S315* P36537 UDB10_HUMAN RecName: Full=UDP-glucuronosyltransferase 2B28; Short=UDPGT 2B28; EC=2.4.1.17; Flags: Precursor; 436 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(3)|ovary(2) 5 TTCTACTCACGAAGGATCATT 0.368 NaN 1 0 5.82388e-19 0.01441 6.43523e-19 45 105 MUC7 4589 broad.mit.edu 37 4 71339777 71339777 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:71339777G>A uc011cat.1 + 3 327 c.39G>A c.(37-39)CTG>CTA p.L13L MUC7_uc011cau.1_Silent_p.L13L|MUC7_uc003hfj.2_Silent_p.L13L NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 13 extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) TCTGTGCACTGAGTGCTTGCT 0.373 NaN 0 0 0 0.010729 0 9 68 MUC7 4589 broad.mit.edu 37 4 71347324 71347324 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:71347324C>T uc011cat.1 + 4 1151 c.863C>T c.(862-864)TCT>TTT p.S288F MUC7_uc011cau.1_Missense_Mutation_p.S288F|MUC7_uc003hfj.2_Missense_Mutation_p.S288F|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 288 6.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) CCCACACCTTCTGCAACTACA 0.577 NaN 0 0 0 0.004878 0 30 232 GC 2638 broad.mit.edu 37 4 72623791 72623791 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:72623791C>T uc003hge.2 - 7 952 c.799G>A c.(799-801)GAG>AAG p.E267K GC_uc003hgd.2_Missense_Mutation_p.E145K|GC_uc010iie.2_Missense_Mutation_p.E267K|GC_uc010iif.2_Missense_Mutation_p.E286K NM_000583 NP_000574 P02774 VTDB_HUMAN vitamin D-binding protein precursor 267 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GAGGCAGACTCACAGCATTTG 0.338 NaN 0 0 0 0.013537 0 13 77 CDKL2 8999 broad.mit.edu 37 4 76523333 76523333 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:76523333T>A uc003hiq.2 - 8 1473 c.948A>T c.(946-948)AAA>AAT p.K316N CDKL2_uc011cbp.1_Missense_Mutation_p.K316N|CDKL2_uc010iix.1_RNA NM_003948 NP_003939 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 316 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(2)|stomach(2)|breast(2)|skin(1) 7 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TGTTTTGGGATTTTTTAGATA 0.274 NaN 0 0 0 0.00308 0 4 38 G3BP2 9908 broad.mit.edu 37 4 76572312 76572312 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:76572312C>G uc003hir.2 - 10 1123 c.958G>C c.(958-960)GAC>CAC p.D320H G3BP2_uc003his.2_Missense_Mutation_p.D320H|G3BP2_uc003hit.2_Missense_Mutation_p.D287H NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 320 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTACGGTTGTCAGAGTCATTC 0.343 NaN 0 0 0 0.004007 0 12 105 SHROOM3 57619 broad.mit.edu 37 4 77691979 77691979 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:77691979C>T uc011cbx.1 + 10 6503 c.5550C>T c.(5548-5550)TCC>TCT p.S1850S SHROOM3_uc003hkg.2_Silent_p.S1628S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1850 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) TGCTGCTCTCCCTCTCGGGGC 0.522 NaN 0 0 0 0.004656 0 24 103 WDFY3 23001 broad.mit.edu 37 4 85638082 85638082 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:85638082G>C uc003hpd.2 - 49 8250 c.7842C>G c.(7840-7842)ATC>ATG p.I2614M WDFY3_uc003hpe.1_Missense_Mutation_p.I225M NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2614 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTTCCTTGATATCTTCAT 0.368 NaN 0 0 0 0.004289 0 27 117 MTTP 4547 broad.mit.edu 37 4 100530103 100530103 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:100530103C>G uc003hvc.3 + 13 1994 c.1738C>G c.(1738-1740)CAA>GAA p.Q580E MTTP_uc011cej.1_Missense_Mutation_p.Q607E NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 580 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CGCCATTGTTCAAGACATCCT 0.403 NaN 0 0 0 0.003954 0 20 100 CASP6 839 broad.mit.edu 37 4 110612078 110612078 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:110612078C>T uc003hzn.1 - 6 649 c.571G>A c.(571-573)GAG>AAG p.E191K CASP6_uc003hzo.1_Missense_Mutation_p.E102K NM_001226 NP_001217 P55212 CASP6_HUMAN caspase 6 isoform alpha preproprotein 191 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding ovary(1)|breast(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) GCATCCACCTCAGTTATGTTG 0.468 NaN 0 0 0 0.006122 0 15 80 EGF 1950 broad.mit.edu 37 4 110864425 110864425 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:110864425G>C uc003hzy.3 + 3 795 c.343G>C c.(343-345)GAG>CAG p.E115Q EGF_uc011cfu.1_Missense_Mutation_p.E115Q|EGF_uc011cfv.1_Missense_Mutation_p.E115Q NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 115 LDL-receptor class B 1.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATGTAATATAGAGAAAAATGT 0.249 NaN 0 0 0 0.00308 0 8 69 C4orf21 55345 broad.mit.edu 37 4 113524748 113524748 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:113524748C>T uc003iau.2 - 10 3119 c.2908G>A c.(2908-2910)GAG>AAG p.E970K C4orf21_uc003iaw.2_Missense_Mutation_p.E970K NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTTCATACTCAGTGCTATCT 0.403 NaN 0 0 0 0.004007 0 12 72 FAT4 79633 broad.mit.edu 37 4 126371442 126371442 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:126371442C>T uc003ifj.3 + 9 9271 c.9271C>T c.(9271-9273)CAA>TAA p.Q3091* FAT4_uc011cgp.1_Nonsense_Mutation_p.Q1389*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q569* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3091 Cadherin 30.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGAATTCTCTCAAAGCCACAT 0.458 NaN 0 0 0 0.004482 0 7 47 HSPA4L 22824 broad.mit.edu 37 4 128722376 128722376 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:128722376G>A uc003ifm.2 + 5 766 c.513G>A c.(511-513)ATG>ATA p.M171I HSPA4L_uc010iny.1_Missense_Mutation_p.M130I|HSPA4L_uc011cgr.1_Missense_Mutation_p.M138I NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 171 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TAAGGTTGATGAATGAAACTA 0.328 NaN 0 0 0 0.008291 0 8 34 DCHS2 54798 broad.mit.edu 37 4 155157962 155157962 + Silent SNP G G T rs138701263 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:155157962G>T uc003inw.2 - 25 6477 c.6477C>A c.(6475-6477)GTC>GTA p.V2159V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2159 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAAGATAACCGACTTGCTTAT 0.403 NaN 1 0 0.000442599 0.006214 0.000456288 8 53 IRF2 3660 broad.mit.edu 37 4 185340623 185340623 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:185340623C>T uc003iwf.3 - 3 387 c.187G>A c.(187-189)GGA>AGA p.G63R NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 63 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GTTTTAGTACCTGTATGGATT 0.433 NaN 0 0 0 0.003271 0 26 92 KIAA1430 57587 broad.mit.edu 37 4 186111383 186111383 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:186111383G>A uc003ixf.3 - 2 1115 c.968C>T c.(967-969)TCG>TTG p.S323L KIAA1430_uc003ixg.2_Missense_Mutation_p.S323L NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 323 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) CACTGAAGACGACTTTGAGGA 0.338 NaN 0 0 0 0.009096 0 4 25 SLC12A7 10723 broad.mit.edu 37 5 1076861 1076861 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:1076861C>T uc003jbu.2 - 13 1762 c.1696G>A c.(1696-1698)GAG>AAG p.E566K NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 566 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ATGCCAGTCTCGCAGATGAGG 0.652 NaN 0 0 0 0.001984 0 6 77 ADAMTS16 170690 broad.mit.edu 37 5 5239387 5239387 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:5239387C>T uc003jdl.2 + 15 2416 c.2278C>T c.(2278-2280)CAG>TAG p.Q760* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Q760*|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 760 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CCACACCAACCGTGAGTACTT 0.512 NaN 0 0 0 0.00499 0 16 120 ADAMTS16 170690 broad.mit.edu 37 5 5239993 5239993 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:5239993G>A uc003jdl.2 + 16 2616 c.2478G>A c.(2476-2478)GAG>GAA p.E826E ADAMTS16_uc003jdk.1_Silent_p.E826E NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 826 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATGAGCCCGAGAACTTAATCG 0.517 NaN 0 0 0 0.00308 0 7 138 DNAH5 1767 broad.mit.edu 37 5 13735275 13735275 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:13735275C>T uc003jfd.2 - 68 11768 c.11726G>A c.(11725-11727)CGA>CAA p.R3909Q DNAH5_uc003jfc.2_Missense_Mutation_p.R77Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3909 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATGCTTGACTCGGTTCCTCTG 0.438 NaN Kartagener_syndrome 0 0 0 0.010729 0 8 110 TRIO 7204 broad.mit.edu 37 5 14304625 14304625 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:14304625C>T uc003jff.2 + 8 1430 c.1424C>T c.(1423-1425)TCA>TTA p.S475L TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S426L|TRIO_uc003jfh.1_Missense_Mutation_p.S124L NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 475 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GACCTTCCCTCAGAGCTGCAG 0.393 NaN 0 0 0 0.010729 0 10 186 NPR3 4883 broad.mit.edu 37 5 32712174 32712174 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:32712174C>T uc003jhv.2 + 1 510 c.292C>T c.(292-294)CGC>TGC p.R98C NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.R98C NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 98 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GCCGGGCACTCGCTTCCAGGT 0.662 NaN 0 0 0 0.009096 0 3 46 BRIX1 55299 broad.mit.edu 37 5 34924954 34924954 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:34924954C>T uc003jja.2 + 9 690 c.666C>T c.(664-666)ATC>ATT p.I222I NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN BRIX 222 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding 0 TATTAAAGATCATAGAAGAAG 0.323 NaN 0 0 0 0.009096 0 3 48 C5orf42 65250 broad.mit.edu 37 5 37180226 37180226 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:37180226G>A uc011cpa.1 - 28 5861 c.5630C>T c.(5629-5631)TCC>TTC p.S1877F C5orf42_uc011coy.1_Missense_Mutation_p.S377F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.S952F NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1877 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATGAGTGATGGAAATAATATC 0.284 NaN 0 0 0 0.004672 0 3 55 PARP8 79668 broad.mit.edu 37 5 49963917 49963917 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:49963917C>T uc003jon.3 + 3 286 c.104C>T c.(103-105)TCT>TTT p.S35F PARP8_uc011cpz.1_5'UTR|PARP8_uc003joo.2_Missense_Mutation_p.S35F|PARP8_uc003jop.2_Missense_Mutation_p.S35F NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 35 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TTCAGATACTCTGACTCCACC 0.453 NaN 0 0 0 0.00308 0 6 86 ITGA2 3673 broad.mit.edu 37 5 52355784 52355784 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:52355784C>T uc003joy.2 + 11 1397 c.1254C>T c.(1252-1254)ATC>ATT p.I418I ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Silent_p.I342I|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 418 Extracellular (Potential).|FG-GAP 3. axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GCCATTTGATCTTTCCTAAAC 0.408 NaN 0 0 0 0.009096 0 4 41 HTR1A 3350 broad.mit.edu 37 5 63257013 63257013 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:63257013C>A uc011cqt.1 - 1 534 c.534G>T c.(532-534)CCG>CCT p.P178P NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 178 Helical; Name=4; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGCGGTCTTCCGGGGTGCGCC 0.597 NaN 1 0 2.51541e-25 0.004878 2.78973e-25 29 143 VCAN 1462 broad.mit.edu 37 5 82833887 82833887 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:82833887A>G uc003kii.3 + 8 5421 c.5065A>G c.(5065-5067)ATT>GTT p.I1689V VCAN_uc003kij.3_Missense_Mutation_p.I702V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I353V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1689 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCAACCACCATTTATCCAGT 0.398 NaN 0 0 0 0.006122 0 14 72 VCAN 1462 broad.mit.edu 37 5 82835572 82835572 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:82835572G>A uc003kii.3 + 8 7106 c.6750G>A c.(6748-6750)GAG>GAA p.E2250E VCAN_uc003kij.3_Silent_p.E1263E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.E914E NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2250 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGATACTGAGCTCTTATTCT 0.378 NaN 0 0 0 0.00499 0 15 44 GPR98 84059 broad.mit.edu 37 5 90149230 90149230 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:90149230G>A uc003kju.2 + 80 17430 c.17334G>A c.(17332-17334)CTG>CTA p.L5778L GPR98_uc003kjt.2_Silent_p.L3484L|GPR98_uc003kjw.2_Silent_p.L1439L NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5778 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAGGCTACTGGATGTCCAGG 0.398 NaN 0 0 0 0.009096 0 4 24 WDR36 134430 broad.mit.edu 37 5 110440423 110440423 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:110440423G>A uc003kpd.2 + 9 1219 c.1102G>A c.(1102-1104)GAA>AAA p.E368K WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 368 WD 4. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TCCTACAGGTGAAGGCCGACT 0.418 NaN 0 0 0 0.006214 0 9 113 APC 324 broad.mit.edu 37 5 112178932 112178932 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:112178932G>A uc010jby.2 + 16 8021 c.7641G>A c.(7639-7641)TGG>TGA p.W2547* APC_uc011cvt.1_Nonsense_Mutation_p.W2529*|APC_uc003kpz.3_Nonsense_Mutation_p.W2547*|APC_uc003kpy.3_Nonsense_Mutation_p.W2547*|APC_uc010jbz.2_Nonsense_Mutation_p.W2264*|APC_uc010jca.2_Nonsense_Mutation_p.W1847* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 2547 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGAACCTGGAAACGTGAGC 0.428 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 0 0 0 0.001168 0 5 56 FBN2 2201 broad.mit.edu 37 5 127704904 127704904 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:127704904G>A uc003kuu.2 - 16 2658 c.2219C>T c.(2218-2220)CCC>CTC p.P740L FBN2_uc003kuv.2_Missense_Mutation_p.P707L NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 740 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGGCTGGCAGGGTTCTCCAAA 0.463 NaN 0 0 0 0.00278 0 20 67 KIF3A 11127 broad.mit.edu 37 5 132046656 132046656 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:132046656C>T uc003kxo.2 - 9 1377 c.1223G>A c.(1222-1224)AGA>AAA p.R408K KIF3A_uc003kxn.2_Missense_Mutation_p.R366K|KIF3A_uc011cxf.1_Missense_Mutation_p.R408K|KIF3A_uc003kxp.2_Missense_Mutation_p.R408K NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 408 Potential. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTACCCCTTCTTTTTTTCCT 0.388 NaN 0 0 0 0.00308 0 4 112 KIF3A 11127 broad.mit.edu 37 5 132052130 132052130 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:132052130G>A uc003kxo.2 - 7 915 c.761C>T c.(760-762)TCA>TTA p.S254L KIF3A_uc003kxn.2_Missense_Mutation_p.S213L|KIF3A_uc011cxf.1_Missense_Mutation_p.S254L|KIF3A_uc003kxp.2_Missense_Mutation_p.S254L NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 254 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGTCTTTCTGAACCCTAGCA 0.328 NaN 0 0 0 0.001984 0 4 58 PCDHB2 56133 broad.mit.edu 37 5 140475294 140475294 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140475294A>G uc003lil.2 + 1 1058 c.920A>G c.(919-921)CAG>CGG p.Q307R PCDHB2_uc003lim.1_5'UTR NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 307 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTTAAGACAGAAACTGGAT 0.413 NaN 0 0 0 0.006214 0 7 66 PCDHGA2 56113 broad.mit.edu 37 5 140719425 140719425 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140719425C>T uc003ljk.1 + 1 1072 c.887C>T c.(886-888)TCA>TTA p.S296L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S296L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 296 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTTAAGTCAACATCTGGA 0.443 NaN 0 0 0 0.006122 0 15 155 PCDHGA2 56113 broad.mit.edu 37 5 140719466 140719466 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140719466G>A uc003ljk.1 + 1 1113 c.928G>A c.(928-930)GAG>AAG p.E310K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.E310K NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 310 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAGATTATGAGGATGCTAC 0.413 NaN 0 0 0 0.00499 0 13 176 PCDHGA2 56113 broad.mit.edu 37 5 140720046 140720046 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140720046C>G uc003ljk.1 + 1 1693 c.1508C>G c.(1507-1509)TCT>TGT p.S503C PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S503C NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 503 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTTATCCTCTTACATCTCT 0.522 NaN 0 0 0 0.001168 0 6 57 ARAP3 64411 broad.mit.edu 37 5 141044642 141044642 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:141044642G>A uc003llm.2 - 19 2725 c.2647C>T c.(2647-2649)CTG>TTG p.L883L ARAP3_uc003lll.2_5'UTR|ARAP3_uc011dbe.1_Silent_p.L545L|ARAP3_uc003lln.2_Silent_p.L785L NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 883 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TCTCCTTGCAGATACAGGGTC 0.667 NaN OREG0016871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 17 TIGD6 81789 broad.mit.edu 37 5 149375650 149375650 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:149375650C>A uc003lri.2 - 2 1024 c.262G>T c.(262-264)GAA>TAA p.E88* TIGD6_uc003lrj.2_Nonsense_Mutation_p.E88* NM_030953 NP_112215 Q17RP2 TIGD6_HUMAN hypothetical protein LOC81789 88 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCATGGATTTCTTGAAACCAA 0.443 NaN 1 0 1.62565e-12 0.012213 1.78643e-12 28 207 ATP10B 23120 broad.mit.edu 37 5 160047939 160047939 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:160047939T>C uc003lym.1 - 15 2678 c.1831A>G c.(1831-1833)AGC>GGC p.S611G ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.S169G NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 611 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGCCTTGCTTGAGGGTTTG 0.463 NaN 0 0 0 0.004656 0 21 218 ADAMTS2 9509 broad.mit.edu 37 5 178555036 178555036 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:178555036G>T uc003mjw.2 - 17 2541 c.2541C>A c.(2539-2541)AAC>AAA p.N847K NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 847 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTTCCAGGACGTTGTTGTCGT 0.587 NaN 1 0 6.72482e-11 0.003163 7.34953e-11 12 93 MAPK9 5601 broad.mit.edu 37 5 179675973 179675973 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:179675973C>T uc003mls.3 - 6 887 c.616G>A c.(616-618)GTT>ATT p.V206I MAPK9_uc003mlt.3_Missense_Mutation_p.V206I|MAPK9_uc010jlc.2_Missense_Mutation_p.V206M|MAPK9_uc003mlv.3_Missense_Mutation_p.V206M|MAPK9_uc011dgx.1_Missense_Mutation_p.V206I NM_002752 NP_002743 P45984 MK09_HUMAN mitogen-activated protein kinase 9 isoform JNK2 206 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding|protein binding central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1) 4 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTATACTCACCGTTCTCTTTG 0.512 NaN 0 0 0 0.01441 0 34 436 FLT4 2324 broad.mit.edu 37 5 180048704 180048704 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:180048704G>A uc003mma.3 - 13 1937 c.1858C>T c.(1858-1860)CTG>TTG p.L620L FLT4_uc003mlz.3_Silent_p.L620L|FLT4_uc003mmb.1_Silent_p.L153L|FLT4_uc011dgy.1_Silent_p.L620L NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 620 Ig-like C2-type 6.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGGCGGCCAGAGGGGTGGCG 0.682 NaN Congenital_Hereditary_Lymphedema 0 0 0 0.009096 0 4 23 BTNL9 153579 broad.mit.edu 37 5 180475178 180475178 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:180475178C>T uc003mmt.2 + 3 592 c.361C>T c.(361-363)CAC>TAC p.H121Y BTNL9_uc011dhi.1_Missense_Mutation_p.H52Y NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 121 Extracellular (Potential).|Ig-like V-type. integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGCAGCTTCACAGCATCAT 0.607 NaN 0 0 0 0.000602 0 5 32 WRNIP1 56897 broad.mit.edu 37 6 2769089 2769089 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:2769089G>A uc003mtz.2 + 2 1178 c.987G>A c.(985-987)GAG>GAA p.E329E WRNIP1_uc003mua.2_Silent_p.E329E NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 329 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) TTATTGATGAGATTCATCGGT 0.229 NaN 0 0 0 0.001984 0 5 30 RREB1 6239 broad.mit.edu 37 6 7229455 7229455 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:7229455G>C uc003mxc.2 + 10 1513 c.1123G>C c.(1123-1125)GTC>CTC p.V375L RREB1_uc003mxb.2_Missense_Mutation_p.V375L|RREB1_uc010jnx.2_Missense_Mutation_p.V375L NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 375 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACCAAAGACGTCAGGCCTGC 0.642 NaN 0 0 0 0.009096 0 3 60 TXNDC5 81567 broad.mit.edu 37 6 7899902 7899902 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:7899902G>A uc003mxv.2 - 3 458 c.426C>T c.(424-426)TTC>TTT p.F142F TXNDC5_uc003mxw.2_Silent_p.F99F|TXNDC5_uc010jnz.2_Silent_p.F34F|TXNDC5_uc010joa.1_Silent_p.F34F NM_030810 NP_110437 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 1 142 Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) GGCCTGGCTTGAAAAGCTTTA 0.438 NaN 0 0 0 0.008291 0 9 59 HIVEP1 3096 broad.mit.edu 37 6 12123010 12123010 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:12123010G>A uc003nac.2 + 4 3161 c.2982G>A c.(2980-2982)ATG>ATA p.M994I HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 994 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGGTAGCCATGAGAGAACCTG 0.473 NaN 0 0 0 0.008291 0 9 256 DHX16 8449 broad.mit.edu 37 6 30627933 30627933 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:30627933G>A uc003nqz.2 - 10 1843 c.1631C>T c.(1630-1632)CCT>CTT p.P544L DHX16_uc003nqy.2_Missense_Mutation_p.P63L|DHX16_uc011dmo.1_Missense_Mutation_p.P484L NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 544 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 CTTGAGCTCAGGTCGGAAGCG 0.537 NaN 0 0 0 0.001168 0 5 59 COL11A2 1302 broad.mit.edu 37 6 33146477 33146477 + Silent SNP G G A rs139350991 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:33146477G>A uc003ocx.1 - 18 1926 c.1698C>T c.(1696-1698)CTC>CTT p.L566L COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Silent_p.L480L|COL11A2_uc003ocz.1_Silent_p.L459L NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 566 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 TCTCTCCAGGGAGCCCTGGGA 0.562 NaN 0 0 0 0.013537 0 10 194 YIPF3 25844 broad.mit.edu 37 6 43481144 43481144 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:43481144G>C uc003ovl.1 - 5 644 c.487C>G c.(487-489)CTG>GTG p.L163V C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.L128V|YIPF3_uc010jyr.1_Missense_Mutation_p.L169V|YIPF3_uc010jys.1_Missense_Mutation_p.L6V|YIPF3_uc003ovm.1_Missense_Mutation_p.L37V|YIPF3_uc010jyt.1_Missense_Mutation_p.L112V NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 163 Helical; (Potential). cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) ATAGCAACCAGAGTGAAGACC 0.473 NaN 0 0 0 0.00308 0 7 43 HMGCLL1 54511 broad.mit.edu 37 6 55360227 55360227 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:55360227G>A uc003pcn.2 - 8 1034 c.875C>T c.(874-876)ACG>ATG p.T292M HMGCLL1_uc003pco.2_Missense_Mutation_p.T262M|HMGCLL1_uc010jzx.2_Missense_Mutation_p.T163M|HMGCLL1_uc011dxc.1_Missense_Mutation_p.T230M|HMGCLL1_uc011dxd.1_Missense_Mutation_p.T159M|HMGCLL1_uc011dxe.1_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 292 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CTGAAGGGCCGTAAGGATATT 0.383 NaN 0 0 0 0.008291 0 8 67 DST 667 broad.mit.edu 37 6 56334713 56334713 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:56334713G>A uc003pdf.2 - 91 16190 c.16162C>T c.(16162-16164)CAA>TAA p.Q5388* DST_uc003pcz.3_Nonsense_Mutation_p.Q5210*|DST_uc011dxj.1_Nonsense_Mutation_p.Q5239*|DST_uc011dxk.1_Nonsense_Mutation_p.Q5250*|DST_uc003pcy.3_Nonsense_Mutation_p.Q4884*|DST_uc003pcw.3_5'Flank|DST_uc003pcx.3_5'UTR NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7296 GAR. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCTCAACTTGAAATCGCTTT 0.313 NaN 0 0 0 0.00499 0 11 87 KCNQ5 56479 broad.mit.edu 37 6 73787121 73787121 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:73787121C>G uc003pgk.2 + 4 1040 c.693C>G c.(691-693)CTC>CTG p.L231L KCNQ5_uc003pgj.3_Silent_p.L231L|KCNQ5_uc011dyh.1_Silent_p.L231L|KCNQ5_uc011dyi.1_Silent_p.L231L|KCNQ5_uc010kat.2_Silent_p.L231L|KCNQ5_uc011dyj.1_Silent_p.L231L|KCNQ5_uc011dyk.1_5'UTR NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 231 Helical; Voltage-sensor; Name=Segment S4; (Potential). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CGTCTGCACTCAGAAGTCTCC 0.463 NaN 0 0 0 0.004482 0 7 61 C6orf167 253714 broad.mit.edu 37 6 97613184 97613184 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:97613184C>T uc003ppb.2 - 21 3425 c.3159G>A c.(3157-3159)TTG>TTA p.L1053L C6orf167_uc011eaf.1_Silent_p.L1013L NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1053 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) CTGTGTTTCTCAATGCCAGCA 0.363 NaN 0 0 0 0.00278 0 18 97 REV3L 5980 broad.mit.edu 37 6 111702567 111702567 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:111702567G>A uc003puy.3 - 10 1500 c.1177C>T c.(1177-1179)CAG>TAG p.Q393* REV3L_uc003pux.3_Nonsense_Mutation_p.Q315*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q315* NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 393 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GTCAAAGGCTGAAAAGTCTGA 0.343 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.000602 0 5 75 LAMA4 3910 broad.mit.edu 37 6 112512903 112512903 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:112512903C>G uc003pvu.2 - 6 962 c.653G>C c.(652-654)GGA>GCA p.G218A LAMA4_uc003pvv.2_Missense_Mutation_p.G218A|LAMA4_uc003pvt.2_Missense_Mutation_p.G218A NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 218 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACACTTGAATCCGGTGGTGTT 0.488 NaN 0 0 0 0.009096 0 4 51 GPRC6A 222545 broad.mit.edu 37 6 117128367 117128367 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:117128367C>T uc003pxj.1 - 3 523 c.501G>A c.(499-501)GTG>GTA p.V167V GPRC6A_uc003pxk.1_Silent_p.V167V|GPRC6A_uc003pxl.1_Silent_p.V167V NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 167 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTCATAACCCACCTGGAAAT 0.383 NaN 0 0 0 0.001984 0 5 80 PTPRK 5796 broad.mit.edu 37 6 128326289 128326289 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:128326289G>C uc003qbk.2 - 15 2798 c.2431C>G c.(2431-2433)CTG>GTG p.L811V PTPRK_uc003qbj.2_Missense_Mutation_p.L812V|PTPRK_uc010kfc.2_Missense_Mutation_p.L812V|PTPRK_uc011ebu.1_Missense_Mutation_p.L812V|PTPRK_uc003qbl.1_Missense_Mutation_p.L706V|PTPRK_uc011ebv.1_Missense_Mutation_p.L822V|PTPRK_uc010kfd.1_Missense_Mutation_p.L25V NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 811 Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCTGCATGCAGAGTGCTCTGA 0.393 NaN 0 0 0 0.00308 0 7 54 SAMD3 154075 broad.mit.edu 37 6 130505642 130505642 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:130505642C>A uc003qbv.2 - 7 836 c.510G>T c.(508-510)ATG>ATT p.M170I SAMD3_uc003qbx.2_Missense_Mutation_p.M170I|SAMD3_uc003qbw.2_Missense_Mutation_p.M170I|SAMD3_uc010kfg.1_Missense_Mutation_p.M170I|SAMD3_uc003qby.2_Missense_Mutation_p.M170I|SAMD3_uc003qbz.1_Missense_Mutation_p.M129I NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 170 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TCCTTATCCTCATGCTGTGAT 0.468 NaN 1 0 0.000274275 0.004482 0.000283733 8 54 SAMD3 154075 broad.mit.edu 37 6 130505656 130505656 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:130505656G>T uc003qbv.2 - 7 822 c.496C>A c.(496-498)CCG>ACG p.P166T SAMD3_uc003qbx.2_Missense_Mutation_p.P166T|SAMD3_uc003qbw.2_Missense_Mutation_p.P166T|SAMD3_uc010kfg.1_Missense_Mutation_p.P166T|SAMD3_uc003qby.2_Missense_Mutation_p.P166T|SAMD3_uc003qbz.1_Missense_Mutation_p.P125T NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 166 ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CTGTGATCCGGGCACTTCTGC 0.453 NaN 1 0 1.23904e-05 0.000602 1.30654e-05 5 57 ENPP1 5167 broad.mit.edu 37 6 132201159 132201159 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:132201159T>C uc011ecf.1 + 20 2105 c.2085T>C c.(2083-2085)TAT>TAC p.Y695Y NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 695 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GGACATCCTATACCGTGGACA 0.403 NaN 0 0 0 0.01441 0 42 192 PEX7 5191 broad.mit.edu 37 6 137167279 137167279 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:137167279C>G uc003qhd.2 + 5 588 c.486C>G c.(484-486)ATC>ATG p.I162M PEX7_uc010kgx.2_RNA NM_000288 NP_000279 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 162 WD 3. ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) ATAGCACAATCTGGTCTCCCC 0.388 NaN 0 0 0 0.001984 0 5 64 FUCA2 2519 broad.mit.edu 37 6 143828485 143828485 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:143828485C>T uc003qjm.2 - 2 393 c.301G>A c.(301-303)GAA>AAA p.E101K NM_032020 NP_114409 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma precursor 101 fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CCAAAATCTTCATATTTGAAA 0.373 NaN 0 0 0 0.008291 0 8 128 SYNE1 23345 broad.mit.edu 37 6 152702384 152702384 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:152702384C>G uc010kiw.2 - 56 9368 c.8766G>C c.(8764-8766)GAG>GAC p.E2922D SYNE1_uc003qot.3_Missense_Mutation_p.E2929D|SYNE1_uc003qou.3_Missense_Mutation_p.E2922D|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_5'UTR|SYNE1_uc010kjb.1_Missense_Mutation_p.E2905D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2922 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) GGGCCTGCATCTCCGTGTGCA 0.577 NaN HNSCC(10;0.0054) 0 0 0 0.00245 0 11 146 SLC22A1 6580 broad.mit.edu 37 6 160555032 160555032 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:160555032C>T uc003qtc.2 + 4 819 c.714C>T c.(712-714)ATC>ATT p.I238I SLC22A1_uc003qtd.2_Silent_p.I238I NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 238 Helical; (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CGGTGGCGATCATGTACCAGA 0.632 NaN 0 0 0 0.001984 0 5 66 LPA 4018 broad.mit.edu 37 6 160978430 160978430 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:160978430G>C uc003qtl.2 - 30 4925 c.4805C>G c.(4804-4806)TCT>TGT p.S1602C NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4110 Kringle 36. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACCTGCTTCAGAATGAGCCTC 0.458 NaN 0 0 0 0.006214 0 7 111 THBS2 7058 broad.mit.edu 37 6 169623568 169623568 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:169623568C>A uc003qwt.2 - 19 3024 c.2776G>T c.(2776-2778)GAT>TAT p.D926Y NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 926 TSP type-3 8. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCCGTCCATCACCTATGCAC 0.373 NaN 1 0 3.59834e-05 0.001168 3.77448e-05 6 85 AHR 196 broad.mit.edu 37 7 17382607 17382607 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:17382607G>C uc011jxz.1 + 11 3079 c.2466G>C c.(2464-2466)CAG>CAC p.Q822H AHR_uc003stt.3_RNA NM_001621 NP_001612 P35869 AHR_HUMAN aryl hydrocarbon receptor precursor 822 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding urinary_tract(1)|kidney(1)|pancreas(1) 3 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATAACACTCAGACTACCACAC 0.368 NaN 0 0 0 0.01441 0 45 149 NPSR1 387129 broad.mit.edu 37 7 34917785 34917785 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:34917785C>T uc003tei.1 + 9 1251 c.1123C>T c.(1123-1125)CTT>TTT p.L375F NPSR1_uc010kww.1_Missense_Mutation_p.L364F|NPSR1_uc011kar.1_Missense_Mutation_p.L309F NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma Error:Variant_position_missing_in_Q6W5P4_after_alignment cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) TTCCTGGGCTCTTCCAAGGTG 0.557 NaN 0 0 0 0.009096 0 4 17 TARP 445347 broad.mit.edu 37 7 38304969 38304969 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:38304969G>C uc003tge.1 - 5 1115 c.738C>G c.(736-738)ATC>ATG p.I246M uc003tfz.1_Intron|TARP_uc003tgb.2_Missense_Mutation_p.I42M|TARP_uc003tgc.1_Missense_Mutation_p.I42M|TARP_uc003tgd.1_Missense_Mutation_p.I42M|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA A2JGV3 A2JGV3_HUMAN Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds. Error:Variant_position_missing_in_A2JGV3_after_alignment 0 TTGGAGGAAAGATAATTTCTT 0.348 NaN 0 0 0 0.009096 0 4 33 PKD1L1 168507 broad.mit.edu 37 7 47898448 47898448 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:47898448G>A uc003tny.1 - 27 4185 c.4185C>T c.(4183-4185)TAC>TAT p.Y1395Y NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1395 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GTGCCCGGGTGTACTTGAGGA 0.502 NaN 0 0 0 0.009096 0 3 49 ZNF727 442319 broad.mit.edu 37 7 63538396 63538396 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:63538396G>A uc011kdm.1 + 4 1148 c.969G>A c.(967-969)TGG>TGA p.W323* NM_001159522 NP_001152994 A8MUV8 ZN727_HUMAN zinc finger protein 727 323 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTTATGTGGATCTCGGCCC 0.388 NaN 0 0 0 0.004672 0 3 31 TPST1 8460 broad.mit.edu 37 7 65705934 65705934 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:65705934C>T uc003tuw.2 + 2 874 c.522C>T c.(520-522)TTC>TTT p.F174F TPST1_uc010kzy.2_Intron|TPST1_uc010kzz.2_Silent_p.F174F|TPST1_uc010laa.2_Silent_p.F174F NM_003596 NP_003587 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 174 Lumenal (Potential). inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity 0 CTAGGTTATTCCCCAATGCCA 0.398 NaN 0 0 0 0.000602 0 5 68 BAZ1B 9031 broad.mit.edu 37 7 72891929 72891929 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:72891929G>C uc003tyc.2 - 7 2207 c.1862C>G c.(1861-1863)TCT>TGT p.S621C NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 621 DDT. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) AAGTAGCCCAGAATAACAGCT 0.478 NaN 0 0 0 0.000602 0 5 59 PCLO 27445 broad.mit.edu 37 7 82579161 82579161 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:82579161C>T uc003uhx.2 - 6 11032 c.10743G>A c.(10741-10743)CTG>CTA p.L3581L PCLO_uc003uhv.2_Silent_p.L3581L|PCLO_uc010lec.2_Silent_p.L546L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3512 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATGTGGCACTCAGATATTGAG 0.438 NaN 0 0 0 0.001984 0 7 52 GRM3 2913 broad.mit.edu 37 7 86469220 86469220 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:86469220G>A uc003uid.2 + 4 3489 c.2390G>A c.(2389-2391)AGA>AAA p.R797K GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.R669K|GRM3_uc010leh.2_Missense_Mutation_p.R389K NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 797 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGTGACTACAGAGTAAGTCTT 0.353 NaN 0 0 0 0.001168 0 5 74 ADAM22 53616 broad.mit.edu 37 7 87757941 87757941 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:87757941G>C uc003ujn.2 + 9 782 c.703G>C c.(703-705)GAA>CAA p.E235Q ADAM22_uc003uji.1_Missense_Mutation_p.E234Q|ADAM22_uc003ujj.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujk.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujl.1_Missense_Mutation_p.E235Q|ADAM22_uc003ujm.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujo.2_Missense_Mutation_p.E235Q|ADAM22_uc003ujp.1_Missense_Mutation_p.E287Q NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 235 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) TCGTAATGTAGAAGAAGAAAC 0.393 NaN 0 0 0 0.008291 0 9 133 MCM7 4176 broad.mit.edu 37 7 99695470 99695470 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:99695470C>G uc003usw.1 - 8 1482 c.972G>C c.(970-972)CTG>CTC p.L324L MCM7_uc003usv.1_Silent_p.L148L|MCM7_uc003usx.1_Silent_p.L148L NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 324 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CAATTTGCCTCAGCTCCTCCC 0.493 NaN 0 0 0 0.010729 0 10 122 ZCWPW1 55063 broad.mit.edu 37 7 99998716 99998716 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:99998716C>G uc003uut.2 - 18 2116 c.1868G>C c.(1867-1869)AGA>ACA p.R623T ZCWPW1_uc011kjq.1_Missense_Mutation_p.R503T|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.R452T|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 623 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCCAGCTCTCTCCCAACATC 0.622 NaN 0 0 0 0.00308 0 5 53 GIGYF1 64599 broad.mit.edu 37 7 100283075 100283075 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:100283075G>A uc003uwg.1 - 10 2093 c.1084C>T c.(1084-1086)CAG>TAG p.Q362* NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 362 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TTCTCCTCCTGAGGAGGCAGT 0.627 NaN 0 0 0 0.009096 0 4 30 MUC17 140453 broad.mit.edu 37 7 100696366 100696366 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:100696366G>A uc003uxp.1 + 10 13256 c.13203G>A c.(13201-13203)CTG>CTA p.L4401L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4401 Helical; (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) GGGTCGTGCTGATGCTGATCA 0.597 NaN 0 0 0 0.001984 0 6 47 ORC5L 5001 broad.mit.edu 37 7 103848302 103848302 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:103848302G>A uc003vcb.2 - 1 162 c.51C>T c.(49-51)ATC>ATT p.I17I ORC5L_uc011klp.1_5'UTR|ORC5L_uc003vcc.2_Silent_p.I17I|ORC5L_uc003vcd.2_Silent_p.I17I NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 17 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 AGGACTGCAAGATGGACACTT 0.517 NaN 0 0 0 0.013537 0 11 100 LAMB1 3912 broad.mit.edu 37 7 107626630 107626630 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:107626630G>T uc003vew.2 - 6 937 c.602C>A c.(601-603)ACT>AAT p.T201N LAMB1_uc003vev.2_Missense_Mutation_p.T225N|LAMB1_uc003vex.2_Missense_Mutation_p.T201N|LAMB1_uc010ljn.1_Missense_Mutation_p.T287N NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 201 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTCCTTCAGTTGAGGGTTC 0.378 NaN 1 0 2.23348e-06 0.004007 2.3845e-06 13 74 IMMP2L 83943 broad.mit.edu 37 7 110526696 110526696 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:110526696C>T uc003vfq.1 - 5 804 c.361G>A c.(361-363)GAA>AAA p.E121K IMMP2L_uc010ljr.1_Missense_Mutation_p.E121K NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 121 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TGATCACCTTCAACCCAGATG 0.403 NaN 0 0 0 0.00308 0 6 73 EXOC4 60412 broad.mit.edu 37 7 132973814 132973814 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:132973814C>G uc003vrk.2 + 3 450 c.415C>G c.(415-417)CAA>GAA p.Q139E EXOC4_uc011kpo.1_Missense_Mutation_p.Q38E|EXOC4_uc003vri.2_Missense_Mutation_p.Q139E|EXOC4_uc003vrj.2_Missense_Mutation_p.Q139E NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 139 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) GCAAGTGCCTCAAAAGCTGGA 0.443 NaN 0 0 0 0.006214 0 8 40 AKR1D1 6718 broad.mit.edu 37 7 137782615 137782615 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:137782615G>A uc003vtz.2 + 4 451 c.382G>A c.(382-384)GGA>AGA p.G128R AKR1D1_uc011kqb.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqc.1_RNA|AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.G128R|AKR1D1_uc011kqf.1_Missense_Mutation_p.G128R|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 128 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 ttttCAGCCAGGAGATGAAAT 0.234 NaN 0 0 0 0.007291 0 25 74 JHDM1D 80853 broad.mit.edu 37 7 139826545 139826545 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:139826545G>C uc003vvm.2 - 6 784 c.780C>G c.(778-780)GTC>GTG p.V260V NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 260 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GCTTGGGAAAGACTGAATCAT 0.403 NaN 0 0 0 0.013537 0 13 84 MGAM 8972 broad.mit.edu 37 7 141752666 141752666 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:141752666G>A uc003vwy.2 + 26 3095 c.3041G>A c.(3040-3042)GGG>GAG p.G1014E NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1014 Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATTCCCATGGGGCCACAGCT 0.463 NaN 0 0 0 0.00278 0 21 103 MGAM 8972 broad.mit.edu 37 7 141759285 141759285 + Nonsense_Mutation SNP C C G rs146623163 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:141759285C>G uc003vwy.2 + 32 3887 c.3833C>G c.(3832-3834)TCA>TGA p.S1278* NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1278 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGCAGTACTCAGACATCGAC 0.567 NaN 0 0 0 0.00308 0 8 24 ARHGEF35 445328 broad.mit.edu 37 7 143884376 143884376 + Missense_Mutation SNP T T G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:143884376T>G uc003wdz.1 - 2 1219 c.1101A>C c.(1099-1101)AAA>AAC p.K367N NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 367 Glu-rich. 0 CTGGGACCCCTTTCTCCTTTA 0.537 NaN 0 0 0 0.009096 0 4 32 MLL3 58508 broad.mit.edu 37 7 151927028 151927028 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:151927028G>C uc003wla.2 - 18 3175 c.2956C>G c.(2956-2958)CCA>GCA p.P986A MLL3_uc003wkz.2_Missense_Mutation_p.P47A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 986 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACACAGTATGGATGGTAACAC 0.368 NaN N medulloblastoma 0 0 0 0.004656 0 10 403 ARHGEF10 9639 broad.mit.edu 37 8 1806263 1806263 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:1806263G>A uc003wpr.2 + 3 353 c.175G>A c.(175-177)GAA>AAA p.E59K ARHGEF10_uc003wpq.1_Missense_Mutation_p.E83K|ARHGEF10_uc003wps.2_Missense_Mutation_p.E59K|ARHGEF10_uc003wpt.2_5'Flank|ARHGEF10_uc010lrd.1_5'Flank|ARHGEF10_uc003wpu.2_5'Flank NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 83 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGGAGCCAGTGAAGCCCCTGC 0.338 NaN 0 0 0 0.009096 0 4 24 ASAH1 427 broad.mit.edu 37 8 17928835 17928835 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:17928835C>T uc003wyl.2 - 3 502 c.190G>A c.(190-192)GAA>AAA p.E64K ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.E64K|ASAH1_uc003wyn.2_Missense_Mutation_p.E80K|ASAH1_uc003wyo.2_Missense_Mutation_p.E87K NM_177924 NP_808592 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase 1 isoform a 64 ceramide metabolic process lysosome ceramidase activity 0 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) AGCATCAATTCATGCCATCTT 0.299 NaN 0 0 0 0.001984 0 4 22 RB1CC1 9821 broad.mit.edu 37 8 53586766 53586766 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:53586766C>G uc003xre.3 - 7 1199 c.641G>C c.(640-642)AGA>ACA p.R214T RB1CC1_uc003xrf.3_Missense_Mutation_p.R214T NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 214 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAAACATTCTCTGTAACTATG 0.398 NaN 0 0 0 0.006214 0 9 135 RP1 6101 broad.mit.edu 37 8 55533796 55533796 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:55533796C>T uc003xsd.1 + 2 418 c.270C>T c.(268-270)CAC>CAT p.H90H RP1_uc011ldy.1_Silent_p.H90H NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 90 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGGCAGGCACAGCATCACGC 0.607 NaN 0 0 0 0.006214 0 8 132 UBXN2B 137886 broad.mit.edu 37 8 59345738 59345738 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:59345738A>T uc003xtl.2 + 4 481 c.359A>T c.(358-360)TAC>TTC p.Y120F NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 120 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus ovary(2) 2 GGTGGAGGATACAGATTGGGT 0.289 NaN 0 0 0 0.010504 0 15 242 VCPIP1 80124 broad.mit.edu 37 8 67576615 67576615 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:67576615G>A uc003xwn.2 - 1 2838 c.2579C>T c.(2578-2580)TCT>TTT p.S860F NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 860 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGCTGCAGCAGACTGACCACC 0.428 NaN 0 0 0 0.001984 0 5 96 FAM82B 51115 broad.mit.edu 37 8 87486538 87486538 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:87486538C>T uc003ydu.2 - 10 1104 c.944G>A c.(943-945)TGA>TAA p.*315* FAM82B_uc011lfz.1_Silent_p.*272*|FAM82B_uc011lga.1_Silent_p.*285* NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 315 microtubule|spindle pole binding ovary(1) 1 GAAAAGTTCTCAATTCTTCTC 0.299 NaN 0 0 0 0.006214 0 6 95 FAM82B 51115 broad.mit.edu 37 8 87486543 87486543 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:87486543C>T uc003ydu.2 - 10 1099 c.939G>A c.(937-939)AAG>AAA p.K313K FAM82B_uc011lfz.1_Silent_p.K270K|FAM82B_uc011lga.1_Silent_p.K283K NM_016033 NP_057117 Q96DB5 RMD1_HUMAN regulator of microtubule dynamics 1 313 microtubule|spindle pole binding ovary(1) 1 GTTCTCAATTCTTCTCACTGA 0.308 NaN 0 0 0 0.010729 0 9 100 DCAF4L2 138009 broad.mit.edu 37 8 88885230 88885230 + Nonsense_Mutation SNP C C A rs138662456 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:88885230C>A uc003ydz.2 - 1 1067 c.970G>T c.(970-972)GAA>TAA p.E324* NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 324 WD 2. ovary(1) 1 CCTTCTTCTTCGTTCACATGC 0.552 NaN 1 0 0.00448238 0.004482 0.00458947 8 57 VPS13B 157680 broad.mit.edu 37 8 100712095 100712095 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:100712095G>A uc003yiv.2 + 36 6575 c.6464G>A c.(6463-6465)TGC>TAC p.C2155Y VPS13B_uc003yiw.2_Missense_Mutation_p.C2130Y NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2155 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGCAAACCATGCCTGTTAGCA 0.443 NaN 0 0 0 0.004482 0 8 56 ODF1 4956 broad.mit.edu 37 8 103564039 103564039 + Silent SNP C C T rs142790437 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:103564039C>T uc003ykt.2 + 1 192 c.84C>T c.(82-84)ATC>ATT p.I28I NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 28 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGAGATGCATCGACGAATTTA 0.483 NaN 0 0 0 0.003954 0 25 145 FZD6 8323 broad.mit.edu 37 8 104337008 104337008 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:104337008G>C uc003ylh.2 + 4 958 c.674G>C c.(673-675)AGA>ACA p.R225T FZD6_uc003yli.2_Missense_Mutation_p.R225T|FZD6_uc003ylj.2_Missense_Mutation_p.R225T|FZD6_uc011lhn.1_Missense_Mutation_p.R191T|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.R170T NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 225 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATTGATGTTAGAAGATTCAGA 0.333 NaN 0 0 0 0.001168 0 6 47 LRP12 29967 broad.mit.edu 37 8 105509412 105509412 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:105509412G>A uc003yma.2 - 5 1463 c.1368C>T c.(1366-1368)TTC>TTT p.F456F LRP12_uc003ymb.2_Silent_p.F437F|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 456 Extracellular (Potential).|LDL-receptor class A 5. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTTTACAATGGAAATTTCCTG 0.418 NaN 0 0 0 0.008871 0 15 102 NUDCD1 84955 broad.mit.edu 37 8 110255327 110255327 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:110255327G>A uc003ynb.3 - 10 1774 c.1663C>T c.(1663-1665)CCT>TCT p.P555S NUDCD1_uc003yna.2_Missense_Mutation_p.P526S|NUDCD1_uc010mcl.2_Missense_Mutation_p.P468S NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 555 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CCTAAAATAGGATCATTGGTT 0.368 NaN 0 0 0 0.004289 0 32 212 CSMD3 114788 broad.mit.edu 37 8 113267562 113267562 + Silent SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:113267562A>G uc003ynu.2 - 62 10116 c.9957T>C c.(9955-9957)TTT>TTC p.F3319F CSMD3_uc003yns.2_Silent_p.F2521F|CSMD3_uc003ynt.2_Silent_p.F3279F|CSMD3_uc011lhx.1_Silent_p.F3150F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3319 Extracellular (Potential).|Sushi 26. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ATATGAAAGGAAAATTGCAGC 0.413 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.006214 0 9 55 NOV 4856 broad.mit.edu 37 8 120430374 120430374 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:120430374C>A uc003yoq.2 + 3 608 c.387C>A c.(385-387)TTC>TTA p.F129L NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 129 VWFC. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGCAAATTCCAGTGCACCT 0.527 NaN 1 0 1.12685e-05 0.004482 1.19034e-05 9 56 TG 7038 broad.mit.edu 37 8 133880419 133880419 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:133880419C>T uc003ytw.2 + 2 168 c.127C>T c.(127-129)CTG>TTG p.L43L NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 43 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACGGCCTTTCTGAAGCAAGC 0.517 NaN 0 0 0 0.013537 0 9 83 TG 7038 broad.mit.edu 37 8 133945805 133945805 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:133945805G>A uc003ytw.2 + 24 4858 c.4817_splice c.e24-1 p.D1606_splice TG_uc010mdw.2_Splice_Site_p.D365_splice|TG_uc011ljb.1_Splice_Site_p.D39_splice NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGTGCTTGCAGATTGCACAGA 0.567 NaN 0 0 0 0.00245 0 10 105 FAM135B 51059 broad.mit.edu 37 8 139158273 139158273 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139158273G>T uc003yuy.2 - 15 3640 c.3469C>A c.(3469-3471)CTG>ATG p.L1157M FAM135B_uc003yux.2_Missense_Mutation_p.L1058M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L719M|FAM135B_uc003yvb.2_Missense_Mutation_p.A684D NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1157 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCTTTACCAGCCGGAGGTCT 0.433 NaN HNSCC(54;0.14) 1 0 0.00010058 0.013537 0.000104953 12 51 FAM135B 51059 broad.mit.edu 37 8 139160802 139160802 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139160802C>T uc003yuy.2 - 14 3580 c.3409G>A c.(3409-3411)GAT>AAT p.D1137N FAM135B_uc003yux.2_Missense_Mutation_p.D1038N|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.D699N|FAM135B_uc003yvb.2_Missense_Mutation_p.R664K NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1137 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAATTCCATCTTCCAAATTT 0.358 NaN HNSCC(54;0.14) 0 0 0 0.00245 0 11 86 FAM135B 51059 broad.mit.edu 37 8 139278012 139278012 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139278012C>G uc003yuy.2 - 4 402 c.231G>C c.(229-231)CGG>CGC p.R77R FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 77 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTCTTCATTCCGGTATAAGA 0.493 NaN HNSCC(54;0.14) 0 0 0 0.001984 0 6 74 NAPRT1 93100 broad.mit.edu 37 8 144660103 144660103 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144660103G>C uc003yym.3 - 2 262 c.237C>G c.(235-237)TTC>TTG p.F79L NAPRT1_uc003yyn.3_Missense_Mutation_p.F79L|NAPRT1_uc011lkh.1_Missense_Mutation_p.F79L|NAPRT1_uc003yyo.3_Missense_Mutation_p.F79L NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 79 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCGAGGCCAGGAACTGCACGT 0.672 NaN 0 0 0 0.000602 0 3 62 PUF60 22827 broad.mit.edu 37 8 144899273 144899273 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144899273G>A uc003yzs.2 - 11 1251 c.1187C>T c.(1186-1188)TCG>TTG p.S396L SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.S336L|PUF60_uc003yzt.2_Missense_Mutation_p.S379L|PUF60_uc003yzq.2_Missense_Mutation_p.S353L|PUF60_uc003yzu.1_Missense_Mutation_p.S385L NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 396 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTCCCACCGAGGGGATGGT 0.612 NaN 0 0 0 0.009096 0 3 17 NRBP2 340371 broad.mit.edu 37 8 144921577 144921577 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144921577G>C uc011lkt.1 - 6 629 c.489C>G c.(487-489)TTC>TTG p.F163L NRBP2_uc003yzv.2_5'UTR|NRBP2_uc003yzz.1_5'Flank|NRBP2_uc003yzw.2_5'Flank|NRBP2_uc010mfl.2_5'Flank|NRBP2_uc010mfm.2_5'UTR|NRBP2_uc011lks.1_5'UTR|NRBP2_uc003yzy.2_5'UTR NM_178564 NP_848659 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 163 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2) 2 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGCGTGCAGGAAGCTGCAGA 0.667 NaN 0 0 0 0.001168 0 5 10 EPPK1 83481 broad.mit.edu 37 8 144940861 144940861 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144940861G>A uc003zaa.1 - 1 6574 c.6561C>T c.(6559-6561)CTC>CTT p.L2187L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2187 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTGAGCTGAGGAGTTCAG 0.537 NaN 0 0 0 0.003271 0 26 210 EPPK1 83481 broad.mit.edu 37 8 144940900 144940900 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144940900G>C uc003zaa.1 - 1 6535 c.6522C>G c.(6520-6522)TTC>TTG p.F2174L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2174 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TAATTCCTTGGAACCACAGGT 0.527 NaN 0 0 0 0.010504 0 19 166 EPPK1 83481 broad.mit.edu 37 8 144941013 144941013 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144941013G>C uc003zaa.1 - 1 6422 c.6409C>G c.(6409-6411)CTC>GTC p.L2137V NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 2137 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCAGCTGGAGCTTCTTCTCC 0.517 NaN 0 0 0 0.010504 0 19 136 EPPK1 83481 broad.mit.edu 37 8 144941802 144941802 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144941802G>A uc003zaa.1 - 1 5633 c.5620C>T c.(5620-5622)CGT>TGT p.R1874C NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1874 cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCCCACACGAAGTGTGTGC 0.607 NaN 0 0 0 0.004482 0 9 36 SMARCA2 6595 broad.mit.edu 37 9 2054650 2054650 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:2054650C>T uc003zhc.2 + 6 1199 c.1100C>T c.(1099-1101)TCT>TTT p.S367F SMARCA2_uc003zhd.2_Missense_Mutation_p.S367F|SMARCA2_uc010mha.2_Missense_Mutation_p.S358F NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 367 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CTGCCTGGCTCTTTGCCACCA 0.443 NaN 0 0 0 0.008871 0 17 82 KIAA2026 158358 broad.mit.edu 37 9 5968412 5968412 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:5968412G>A uc003zjq.3 - 3 2035 c.1819C>T c.(1819-1821)CCA>TCA p.P607S NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 607 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATTTCACCTGGACTAAGAGGC 0.363 NaN 0 0 0 0.001984 0 5 74 C9orf72 203228 broad.mit.edu 37 9 27566843 27566843 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:27566843C>T uc003zqq.2 - 2 373 c.276G>A c.(274-276)GTG>GTA p.V92V C9orf72_uc003zqr.1_Silent_p.V92V NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 92 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) AAACAATAATCACTCCCTTTT 0.378 NaN 0 0 0 0.009096 0 3 39 NFX1 4799 broad.mit.edu 37 9 33313681 33313681 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:33313681C>T uc003zsq.2 + 7 1539 c.1478C>T c.(1477-1479)TCA>TTA p.S493L SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Missense_Mutation_p.S493L|NFX1_uc003zso.2_Missense_Mutation_p.S493L|NFX1_uc003zsp.1_Missense_Mutation_p.S493L|NFX1_uc010mjr.1_Missense_Mutation_p.S493L|NFX1_uc003zsr.2_Missense_Mutation_p.S493L NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 493 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CAGGCTGTCTCAGTCCACTGT 0.483 NaN 0 0 0 0.012319 0 16 126 SIGMAR1 10280 broad.mit.edu 37 9 34635839 34635839 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:34635839G>A uc003zvb.2 - 4 536 c.462C>T c.(460-462)CAC>CAT p.H154H SIGMAR1_uc003zva.3_Silent_p.H134H|SIGMAR1_uc003zuz.2_Silent_p.H65H|SIGMAR1_uc003zvc.2_Silent_p.H123H|SIGMAR1_uc003zvd.2_RNA|SIGMAR1_uc011loo.1_Intron NM_005866 NP_005857 Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 154 Cytoplasmic (Potential). ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding 0 Dextromethorphan(DB00514) CACCAGGCCCGTGTACTACCG 0.647 NaN 0 0 0 0.00245 0 11 47 GNE 10020 broad.mit.edu 37 9 36276902 36276902 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:36276902G>A uc010mli.2 - 1 140 c.40C>T c.(40-42)CAA>TAA p.Q14* CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.F46F NM_001128227 NP_001121699 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- Error:Variant_position_missing_in_Q9Y223_after_alignment cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TGAGGTCCTTGAAAGCATGAC 0.403 NaN 0 0 0 0.014323 0 17 69 TBC1D2 55357 broad.mit.edu 37 9 100971023 100971023 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:100971023C>T uc011lvb.1 - 9 2257 c.2077G>A c.(2077-2079)GAC>AAC p.D693N TBC1D2_uc004ayp.2_Missense_Mutation_p.D233N|TBC1D2_uc004ayq.2_Missense_Mutation_p.D693N|TBC1D2_uc004ayr.2_Missense_Mutation_p.D475N|TBC1D2_uc004ayo.3_Missense_Mutation_p.D693N NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 693 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGGAGCTTGTCGGGGAAGCTG 0.642 NaN 0 0 0 0.009096 0 4 55 PTPN3 5774 broad.mit.edu 37 9 112166859 112166859 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:112166859C>T uc004bed.2 - 19 1934 c.1822G>A c.(1822-1824)GAA>AAA p.E608K PTPN3_uc004beb.2_Missense_Mutation_p.E477K|PTPN3_uc004bec.2_Missense_Mutation_p.E432K|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.E563K|PTPN3_uc011lwh.1_Missense_Mutation_p.E454K|PTPN3_uc011lwd.1_Missense_Mutation_p.E76K|PTPN3_uc011lwe.1_Missense_Mutation_p.E321K|PTPN3_uc011lwf.1_Missense_Mutation_p.E276K NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 608 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 agttcatcttcagacttgaag 0.373 NaN 0 0 0 0.004656 0 20 90 COL27A1 85301 broad.mit.edu 37 9 116973287 116973287 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:116973287G>T uc011lxl.1 + 12 2348 c.2348G>T c.(2347-2349)AGG>ATG p.R783M COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.R582M NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 783 Collagen-like 3.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCTGGCAAGAGGGGCAAGATG 0.642 NaN 1 0 2.52707e-12 0.006214 2.77192e-12 6 94 DFNB31 25861 broad.mit.edu 37 9 117188538 117188538 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:117188538C>G uc004biz.3 - 4 1768 c.1119G>C c.(1117-1119)AAG>AAC p.K373N DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.K373N NM_015404 NP_056219 Q9P202 WHRN_HUMAN CASK-interacting protein CIP98 isoform 1 373 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium ovary(4)|central_nervous_system(1)|pancreas(1) 6 TGGCGATCCACTTGGTCTCGT 0.617 NaN 0 0 0 0.001984 0 6 54 STRBP 55342 broad.mit.edu 37 9 125909232 125909232 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:125909232G>T uc004bns.2 - 13 1670 c.1240C>A c.(1240-1242)CAT>AAT p.H414N STRBP_uc004bnt.2_Missense_Mutation_p.H232N|STRBP_uc004bnu.2_Missense_Mutation_p.H400N|STRBP_uc004bnv.2_Missense_Mutation_p.H414N|STRBP_uc004bnr.2_Missense_Mutation_p.H26N NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 414 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 ACTGGGGCATGAACGGGGCCA 0.463 NaN 1 0 3.27435e-08 0.00245 3.53984e-08 13 114 DOLK 22845 broad.mit.edu 37 9 131709575 131709575 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:131709575C>T uc004bwr.2 - 1 438 c.8G>A c.(7-9)CGA>CAA p.R3Q NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 3 Lumenal (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 TGGGCACTCTCGGGTCATATC 0.662 NaN 0 0 0 0.001855 0 10 53 RPS6KA3 6197 broad.mit.edu 37 X 20194392 20194392 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:20194392C>G uc004czu.2 - 13 1078 c.1078G>C c.(1078-1080)GAG>CAG p.E360Q RPS6KA3_uc011mjk.1_Missense_Mutation_p.E331Q|RPS6KA3_uc004czv.2_Missense_Mutation_p.E348Q|RPS6KA3_uc011mjl.1_Missense_Mutation_p.E332Q|RPS6KA3_uc011mjm.1_Missense_Mutation_p.E332Q NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 360 AGC-kinase C-terminal. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 GCAGTAAACTCAGGATCAAAA 0.348 NaN 0 0 0 0.000602 0 4 21 TAB3 257397 broad.mit.edu 37 X 30872614 30872614 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:30872614G>A uc004dcj.2 - 6 1831 c.1168C>T c.(1168-1170)CAA>TAA p.Q390* TAB3_uc004dck.2_Nonsense_Mutation_p.Q390*|TAB3_uc010ngl.2_Nonsense_Mutation_p.Q390* NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 390 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 GGAGATGGTTGATTACTGATG 0.423 NaN 0 0 0 0.001168 0 4 73 BMP15 9210 broad.mit.edu 37 X 50659572 50659572 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:50659572G>A uc011mnw.1 + 2 1144 c.1144G>A c.(1144-1146)GAG>AAG p.E382K NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 382 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) CAAGGAGTATGAGGGTATGAT 0.453 NaN 0 0 0 0.00308 0 7 63 XAGE5 170627 broad.mit.edu 37 X 52844216 52844216 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:52844216A>C uc004drd.1 + 4 344 c.279A>C c.(277-279)TCA>TCC p.S93S NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 93 ovary(1) 1 TGCCAAAATCAGAGCAATTTA 0.388 NaN 0 0 0 0.004482 0 7 22 HUWE1 10075 broad.mit.edu 37 X 53578272 53578272 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:53578272C>G uc004dsp.2 - 64 9453 c.9051G>C c.(9049-9051)GTG>GTC p.V3017V HUWE1_uc004dsn.2_Intron NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3017 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ACTCAGGGCTCACTTCAGTCA 0.597 NaN 0 0 0 0.000602 0 4 9 RLIM 51132 broad.mit.edu 37 X 73814150 73814150 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:73814150C>T uc004ebu.2 - 4 534 c.244G>A c.(244-246)GAA>AAA p.E82K RLIM_uc004ebw.2_Missense_Mutation_p.E82K NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 82 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CCTCTATTTTCATCTGAGTTT 0.418 NaN 0 0 0 0.000602 0 5 29 ABCB7 22 broad.mit.edu 37 X 74291394 74291394 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:74291394C>A uc004eca.2 - 9 1182 c.1157G>T c.(1156-1158)AGT>ATT p.S386I ABCB7_uc004ebz.2_Missense_Mutation_p.S387I|ABCB7_uc011mqn.1_Missense_Mutation_p.S360I|ABCB7_uc010nls.2_Missense_Mutation_p.S347I|ABCB7_uc010nlt.2_Missense_Mutation_p.S346I NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 386 ABC transmembrane type-1.|Helical; (Potential). cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 TAAACCGACACTGAAAATAGC 0.408 NaN 1 0 0.00909568 0.009096 0.00928131 4 63 GPRASP1 9737 broad.mit.edu 37 X 101912847 101912847 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:101912847C>T uc004ejj.3 + 5 4807 c.4006C>T c.(4006-4008)CAA>TAA p.Q1336* GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1336*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1336* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1336 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 TGACAATATTCAAATTGTTCT 0.328 NaN 0 0 0 0.004482 0 7 32 BEX4 56271 broad.mit.edu 37 X 102471435 102471435 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:102471435C>T uc004ejv.3 + 3 589 c.354C>T c.(352-354)CTC>CTT p.L118L BEX4_uc004ejw.3_Silent_p.L118L NM_001080425 NP_001073894 Q9NWD9 BEX4_HUMAN BEX family member 4 118 cytoplasm|nucleus skin(1) 1 ACTTTTGCCTCATACCTTGAA 0.398 NaN 0 0 0 0.003163 0 13 58 ESX1 80712 broad.mit.edu 37 X 103499470 103499470 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:103499470C>T uc004ely.2 - 1 119 c.61G>A c.(61-63)GAG>AAG p.E21K NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 21 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCGATGTCCTCGCCGACTGCC 0.552 NaN 0 0 0 0.008291 0 7 157 SERPINA7 6906 broad.mit.edu 37 X 105281023 105281023 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:105281023G>C uc004eme.1 - 1 43 c.27C>G c.(25-27)CTC>CTG p.L9L SERPINA7_uc010npd.2_Silent_p.L9L|SERPINA7_uc010npe.1_Silent_p.L9L NM_000354 NP_000345 P05543 THBG_HUMAN serine (or cysteine) proteinase inhibitor, clade 9 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity 0 Levothyroxine(DB00451)|Liothyronine(DB00279) CAAGTACCAAGAGAACCAGAT 0.448 NaN 0 0 0 0.001855 0 12 38 SLITRK4 139065 broad.mit.edu 37 X 142718202 142718202 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:142718202G>T uc004fbx.2 - 2 1099 c.723C>A c.(721-723)ATC>ATA p.I241I SLITRK4_uc004fby.2_Silent_p.I241I NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 241 Extracellular (Potential).|LRRCT 1. integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTTCACAGATAGCTTCTC 0.433 NaN 1 0 1.12685e-05 0.004482 1.19034e-05 7 18 ARID1A 8289 broad.mit.edu 37 1 27092815 27092815 + Frame_Shift_Del DEL C C - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 C - C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:27092815delC uc001bmv.1 + 9 3209 c.2836delC c.(2836-2838)CCCfs p.P946fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P946fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P563fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 946 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCTCAGGGACCCCCATATTC 0.483 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC NaN NaN NaN NaN NaN 18 129 --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:98336475delT uc001kmm.3 - 2 431 c.214delA c.(214-216)AGTfs p.S72fs TM9SF3_uc010qot.1_Frame_Shift_Del_p.S72fs NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 72 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 NaN NaN NaN NaN NaN NaN 8 150 --- --- IQSEC3 440073 broad.mit.edu 37 12 248252 248254 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:248252_248254delGAG uc001qhw.1 + 1 820_822 c.814_816delGAG c.(814-816)GAGdel p.E276del IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|IQSEC3_uc001qht.1_In_Frame_Del_p.E361del|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 579 Poly-Glu. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) Agaggaggaagaggaggaggagg 0.586 NaN NaN NaN NaN NaN NaN 2 4 --- --- RNF17 56163 broad.mit.edu 37 13 25419163 25419163 + Frame_Shift_Del DEL A A - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:25419163delA uc001upr.2 + 22 3088 c.3047delA c.(3046-3048)GAAfs p.E1016fs RNF17_uc010tdd.1_Frame_Shift_Del_p.E875fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Del_p.E1016fs|RNF17_uc001ups.2_Frame_Shift_Del_p.E955fs|RNF17_uc010aac.2_Frame_Shift_Del_p.E214fs|RNF17_uc010aad.2_Frame_Shift_Del_p.E68fs NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 1016 Tudor 2. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAACTTGAAGAAAATCTAAAG 0.303 NaN NaN NaN NaN NaN NaN 18 118 --- --- GSX1 219409 broad.mit.edu 37 13 28367927 28367929 + In_Frame_Del DEL GGC GGC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:28367927_28367929delGGC uc001urr.1 + 2 685_687 c.637_639delGGC c.(637-639)GGCdel p.G218del NM_145657 NP_663632 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAACCATCgtggcggcggcggcg 0.463 NaN NaN NaN NaN NaN NaN 7 93 --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:72190482_72190484delTCC uc001xms.2 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)TCCdel p.S1468del SIPA1L1_uc001xmt.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmu.2_In_Frame_Del_p.S1447del|SIPA1L1_uc001xmv.2_In_Frame_Del_p.S1468del|SIPA1L1_uc010ttm.1_In_Frame_Del_p.S922del|SIPA1L1_uc001xmw.2_In_Frame_Del_p.S233del NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.468 NaN NaN NaN NaN NaN NaN 7 167 --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:36255947_36255949delCTC uc002obq.1 + 7 712_714 c.639_641delCTC c.(637-642)ATCTCC>ATC p.S218del NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN hypothetical protein LOC148137 218 Ser-rich. ovary(1) 1 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 NaN NaN NaN NaN NaN NaN 8 402 --- --- RBCK1 10616 broad.mit.edu 37 20 401519 401521 + In_Frame_Del DEL AGC AGC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:401519_401521delAGC uc002wdp.3 + 7 1454_1456 c.761_763delAGC c.(760-765)AAGCAG>AAG p.Q258del RBCK1_uc010zpm.1_Intron|RBCK1_uc002wdq.3_In_Frame_Del_p.Q216del|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 258 Potential.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) GCCCAGCGGAAGCAGCAGCAGCA 0.729 NaN NaN NaN NaN NaN NaN 2 4 --- --- TBC1D23 55773 broad.mit.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:100039735_100039736insA uc003dtt.2 + 18 2115_2116 c.1938_1939insA c.(1936-1941)TCCAAAfs p.S646fs TBC1D23_uc003dts.2_Frame_Shift_Ins_p.S631fs|TBC1D23_uc003dtu.2_Frame_Shift_Ins_p.S77fs NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 646_647 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 AAATTACATCCAAAAAAAAACA 0.356 NaN NaN NaN NaN NaN NaN 8 78 --- --- UBE2K 3093 broad.mit.edu 37 4 39779392 39779392 + Frame_Shift_Del DEL A A - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:39779392delA uc003guu.3 + 6 774 c.490delA c.(490-492)AAAfs p.K164fs UBE2K_uc003gus.3_Intron|UBE2K_uc003gut.3_Frame_Shift_Del_p.K113fs|UBE2K_uc010ifn.2_RNA|UBE2K_uc011byq.1_Frame_Shift_Del_p.K103fs|UBE2K_uc003guq.3_Frame_Shift_Del_p.K61fs NM_005339 NP_005330 P61086 UBE2K_HUMAN ubiquitin-conjugating enzyme E2K isoform 1 164 UBA. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 AGAATACACCAAAAAAATAGA 0.363 NaN NaN NaN NaN NaN NaN 7 122 --- --- NRG2 9542 broad.mit.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:139422565_139422567delGCT uc003lex.1 - 1 313_315 c.88_90delAGC c.(88-90)AGCdel p.S30del NRG2_uc003lev.1_In_Frame_Del_p.S30del|NRG2_uc003lew.1_In_Frame_Del_p.S30del|NRG2_uc003ley.1_In_Frame_Del_p.S30del NM_004883 NP_004874 O14511 NRG2_HUMAN neuregulin 2 isoform 1 30 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity pancreas(2)|breast(2)|ovary(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgctcctctcgctgctgctgctg 0.32 NaN NaN NaN NaN NaN NaN 4 3 --- --- IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:137519505_137519506delCT uc003qho.2 - 7 1235_1236 c.1132_1133delAG c.(1132-1134)AGTfs p.S378fs IFNGR1_uc011edm.1_Frame_Shift_Del_p.S350fs NM_000416 NP_000407 P15260 INGR1_HUMAN interferon gamma receptor 1 precursor 378 Cytoplasmic (Potential). regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity upper_aerodigestive_tract(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 NaN NaN NaN NaN NaN NaN 8 145 --- ---