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 NBPF10 100132406 broad.mit.edu 37 1 145324371 145324371 + Missense_Mutation SNP T C C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:145324371T>C uc001end.3 + 30 3826 c.3791T>C c.(3790-3792)GTA>GCA p.V1264A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oym.1_Intron|NBPF10_uc010oyn.1_Intron|NBPF10_uc010oyo.1_Intron|NBPF10_uc010oyp.1_RNA NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 1189 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CTGCTGGAGGTAGTAGCGCCT 0.498 USH2A 7399 broad.mit.edu 37 1 215820917 215820917 + Missense_Mutation SNP T C C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:215820917T>C uc001hku.1 - 67 15125 c.14738A>G c.(14737-14739)AAC>AGC p.N4913S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4913 Extracellular (Potential).|Fibronectin type-III 34. 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) GCCCACCTCGTTGTGTGCCAC 0.478 HNSCC(13;0.011) TAF1A 9015 broad.mit.edu 37 1 222761835 222761835 + Missense_Mutation SNP C G G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:222761835C>G uc009xdz.1 - 2 260 c.71G>C c.(70-72)AGT>ACT p.S24T TAF1A_uc001hni.1_5'UTR|TAF1A_uc001hnj.2_Missense_Mutation_p.S24T|TAF1A_uc001hnk.2_5'UTR|TAF1A_uc010pur.1_Missense_Mutation_p.S24T NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 24 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) TCCTGCACCACTGAGCACAGA 0.373 OR2L1P 26247 broad.mit.edu 37 1 248154337 248154337 + Nonsense_Mutation SNP T A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr1:248154337T>A uc001idv.1 + 1 769 c.525T>A c.(523-525)TAT>TAA p.Y175* OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 CCTTTGCTTATACCTATCTAC 0.512 LGALS12 85329 broad.mit.edu 37 11 63273794 63273794 + Translation_Start_Site SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr11:63273794C>T uc001nxa.2 + 1 271 c.-70C>T c.(-72--68)AACGC>AATGC LGALS12_uc001nxb.2_Translation_Start_Site|LGALS12_uc001nxc.2_Translation_Start_Site|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 AGCATTAAAACGCTGCAGGTC 0.637 ARCN1 372 broad.mit.edu 37 11 118461139 118461139 + Missense_Mutation SNP T A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr11:118461139T>A uc001ptq.2 + 6 1063 c.902T>A c.(901-903)ATC>AAC p.I301N ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.I213N|ARCN1_uc009zag.2_Missense_Mutation_p.I342N NM_001655 NP_001646 P48444 COPD_HUMAN archain isoform 1 301 MHD. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER clathrin adaptor complex|COPI vesicle coat|cytosol 0 all_hematologic(175;0.0349) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CATGGCATGATCATGCTTAGG 0.393 KIF21A 55605 broad.mit.edu 37 12 39716483 39716483 + Missense_Mutation SNP T C C rs147620197 TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr12:39716483T>C uc001rly.2 - 27 3804 c.3658A>G c.(3658-3660)AAG>GAG p.K1220E KIF21A_uc001rlv.2_Missense_Mutation_p.K225E|KIF21A_uc001rlw.2_Missense_Mutation_p.K537E|KIF21A_uc001rlx.2_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.2_Missense_Mutation_p.K1184E|KIF21A_uc010skl.1_Missense_Mutation_p.K1200E NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1220 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CTGCCTATCTTAGAAGGTAAG 0.398 F10 2159 broad.mit.edu 37 13 113803697 113803697 + Missense_Mutation SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr13:113803697C>T uc001vsx.2 + 8 1390 c.1333C>T c.(1333-1335)CGT>TGT p.R445C F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 445 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGCTGTGCCCGTAAGGGGAA 0.627 CFL2 1073 broad.mit.edu 37 14 35182132 35182132 + Missense_Mutation SNP G A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr14:35182132G>A uc001wsg.3 - 4 581 c.440C>T c.(439-441)TCG>TTG p.S147L CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsh.3_Missense_Mutation_p.S147L|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA NM_021914 NP_068733 Q9Y281 COF2_HUMAN cofilin 2 147 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(2) 2 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) TCCAAGTGTCGAACGGTCCTT 0.338 NF1 4763 broad.mit.edu 37 17 29663349 29663349 + Splice_Site SNP A G G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr17:29663349A>G uc002hgg.2 + 41 6340 c.6007_splice c.e41-2 p.I2003_splice NF1_uc002hgh.2_Splice_Site_p.I1982_splice|NF1_uc010cso.2_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTCTTCAACTAGATTACAGAT 0.323 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) MYOM1 8736 broad.mit.edu 37 18 3188890 3188890 + Silent SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr18:3188890C>T uc002klp.2 - 4 961 c.627G>A c.(625-627)ACG>ACA p.T209T MYOM1_uc002klq.2_Silent_p.T209T NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 209 5.|6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCCTGGATGCCGTGGACTGCT 0.522 MUC16 94025 broad.mit.edu 37 19 9075072 9075072 + Missense_Mutation SNP G A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:9075072G>A uc002mkp.2 - 3 12578 c.12374C>T c.(12373-12375)ACG>ATG p.T4125M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4127 Thr-rich.|Extracellular (Potential).|Ser-rich. 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 TCTCTGAGTCGTAGCCAGTGG 0.502 NDUFA13 51079 broad.mit.edu 37 19 19645858 19645858 + Missense_Mutation SNP G A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:19645858G>A uc010xqy.1 + 5 839 c.580G>A c.(580-582)GCT>ACT p.A194T NDUFA13_uc010xqx.1_3'UTR|YJEFN3_uc002nmt.1_Missense_Mutation_p.A112T|YJEFN3_uc010ecf.1_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.1_RNA NM_015965 NP_057049 Q9P0J0 NDUAD_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha Error:Variant_position_missing_in_Q9P0J0_after_alignment apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding 0 NADH(DB00157) CCCGTTGCCCGCTCTCTCCCG 0.498 RPSAP58 388524 broad.mit.edu 37 19 24010412 24010412 + Missense_Mutation SNP C A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:24010412C>A uc002nrn.2 + 4 872 c.449C>A c.(448-450)ACA>AAA p.T150K NM_002295 NP_002286 ribosomal protein SA 0 CTGTGTAACACAGATTCTCCT 0.542 NLRP4 147945 broad.mit.edu 37 19 56379119 56379119 + Missense_Mutation SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr19:56379119C>T uc002qmd.3 + 6 2653 c.2231C>T c.(2230-2232)GCT>GTT p.A744V NLRP4_uc002qmf.2_Missense_Mutation_p.A669V|NLRP4_uc010etf.2_Intron NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 744 LRR 3. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GAAGTCCTTGCTGGCCTTCTA 0.483 TTN 7273 broad.mit.edu 37 2 179640164 179640164 + Missense_Mutation SNP C G G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr2:179640164C>G uc010zfg.1 - 28 6651 c.6427G>C c.(6427-6429)GCT>CCT p.A2143P TTN_uc010zfh.1_Missense_Mutation_p.A2097P|TTN_uc010zfi.1_Missense_Mutation_p.A2097P|TTN_uc010zfj.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2143 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) GAGTCCTCAGCAGTCACATCT 0.443 PCNT 5116 broad.mit.edu 37 21 47845820 47845820 + Missense_Mutation SNP G A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr21:47845820G>A uc002zji.3 + 33 7362 c.7255G>A c.(7255-7257)GAG>AAG p.E2419K PCNT_uc002zjj.2_Missense_Mutation_p.E2301K NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2419 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) CCCAAGCGGCGAGCCACACCC 0.577 BCL6 604 broad.mit.edu 37 3 187447774 187447774 + Missense_Mutation SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr3:187447774C>T uc003frp.3 - 5 876 c.419G>A c.(418-420)CGT>CAT p.R140H BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.1_Missense_Mutation_p.R140H NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 140 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GAACTCTTCACGAGGAGGCTT 0.522 T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL REST 5978 broad.mit.edu 37 4 57777086 57777086 + Silent SNP A G G TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:57777086A>G uc003hch.2 + 2 629 c.282A>G c.(280-282)GAA>GAG p.E94E REST_uc003hci.2_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 94 Interaction with SIN3A. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) AAGGACTTGAAGAGTCTGCTG 0.458 SPARCL1 8404 broad.mit.edu 37 4 88415064 88415064 + Silent SNP T C C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:88415064T>C uc010ikm.2 - 5 1460 c.888A>G c.(886-888)CAA>CAG p.Q296Q SPARCL1_uc011cdc.1_Silent_p.Q171Q|SPARCL1_uc003hqs.3_Silent_p.Q296Q|SPARCL1_uc011cdd.1_Silent_p.Q171Q|SPARCL1_uc003hqt.2_Silent_p.Q296Q NM_001128310 NP_001121782 Q14515 SPRL1_HUMAN SPARC-like 1 precursor 296 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TTTTACCCTCTTGACTCTGCC 0.418 FAT4 79633 broad.mit.edu 37 4 126337603 126337603 + Missense_Mutation SNP G A A TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr4:126337603G>A uc003ifj.3 + 6 6844 c.6844G>A c.(6844-6846)GTG>ATG p.V2282M FAT4_uc011cgp.1_Missense_Mutation_p.V580M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2282 Extracellular (Potential).|Cadherin 22. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TGTTCTACAGGTGGTGGCAAG 0.368 NHLRC1 378884 broad.mit.edu 37 6 18122155 18122155 + Missense_Mutation SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr6:18122155C>T uc003ncl.1 - 1 697 c.683G>A c.(682-684)GGG>GAG p.G228E NM_198586 NP_940988 Q6VVB1 NHLC1_HUMAN NHL repeat containing 1 228 NHL 3. proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination endoplasmic reticulum|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.016)|Breast(50;0.0245) all_hematologic(90;0.165) all cancers(50;0.0451)|Epithelial(50;0.0493) TACCACAATCCCATTCTGAGG 0.532 OR9A4 130075 broad.mit.edu 37 7 141619469 141619469 + Missense_Mutation SNP C T T TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr7:141619469C>T uc003vwu.1 + 1 794 c.794C>T c.(793-795)ACG>ATG p.T265M NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CCCAAGCAAACGCAGGCAGCT 0.478 ZNF782 158431 broad.mit.edu 37 9 99581330 99581330 + Silent SNP G C C TCGA-32-1980-01A-01D-1696-08 TCGA-32-1980-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 9b267205-1994-46ff-8d0f-56625dae7c1b 2e957afb-4381-47c2-adc8-a49a224c5edb g.chr9:99581330G>C uc004awp.1 - 6 1256 c.975C>G c.(973-975)CTC>CTG p.L325L ZNF782_uc011lup.1_Silent_p.L193L NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 325 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) GATGCACTGGGAGGGTTGAAT 0.398