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 CLCNKA 1187 broad.mit.edu 37 1 16355293 16355293 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:16355293G>A uc001axu.2 + 11 1086 c.1006G>A c.(1006-1008)GCC>ACC p.A336T CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A336T|CLCNKA_uc010obw.1_Missense_Mutation_p.A293T|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 336 Helical; (Potential). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CTTGCTTCTCGCCTCCATCAC 0.632 LRRC7 57554 broad.mit.edu 37 1 70503971 70503971 + Missense_Mutation SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:70503971A>G uc001dep.2 + 19 2380 c.2350A>G c.(2350-2352)ACC>GCC p.T784A LRRC7_uc009wbg.2_Missense_Mutation_p.T68A|LRRC7_uc001deq.2_Missense_Mutation_p.T25A NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 784 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TGCTGAGGAAACCACAGCCGA 0.488 MCOLN3 55283 broad.mit.edu 37 1 85499910 85499910 + Missense_Mutation SNP C T T rs144793042 byFrequency TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:85499910C>T uc001dkp.2 - 4 514 c.421G>A c.(421-423)GTT>ATT p.V141I MCOLN3_uc001dkq.2_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.2_Missense_Mutation_p.V141I|MCOLN3_uc001dks.3_5'UTR NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 141 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) TGATTCCCAACGGAGACATTG 0.468 RPL5 6125 broad.mit.edu 37 1 93301746 93301746 + Splice_Site SNP G C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:93301746G>C uc001doz.2 + 5 403 c.325_splice c.e5-1 p.L109_splice FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_Intron|RPL5_uc001dpb.2_Splice_Site_p.L59_splice|RPL5_uc001dpd.2_5'Flank|SNORD21_uc001dpe.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) TTCTTGAATAGCTTCTCAATA 0.398 C1orf161 126868 broad.mit.edu 37 1 116675825 116675825 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:116675825C>T uc001egc.1 + 7 1193 c.928C>T c.(928-930)CGC>TGC p.R310C NM_152367 NP_689580 Q8N8X9 MB213_HUMAN hypothetical protein LOC126868 310 0 Lung SC(450;0.184) all_cancers(81;0.00142)|all_lung(203;0.000139)|all_epithelial(167;0.000401)|Lung NSC(69;0.000705) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) AGCATTTCTGCGCCTGGTGAG 0.507 ADAMTSL4 54507 broad.mit.edu 37 1 150530514 150530514 + Silent SNP T G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:150530514T>G uc001eux.2 + 14 2507 c.2271T>G c.(2269-2271)GGT>GGG p.G757G ADAMTSL4_uc001euw.2_Silent_p.G757G|ADAMTSL4_uc009wlw.2_Silent_p.G780G|ADAMTSL4_uc010pcg.1_Silent_p.G718G|ADAMTSL4_uc009wlx.2_5'UTR NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 757 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TTGGGGGGGGTGGCTCCTCGG 0.692 FLG 2312 broad.mit.edu 37 1 152283083 152283083 + Missense_Mutation SNP C T T rs148844389 byFrequency TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:152283083C>T uc001ezu.1 - 3 4315 c.4279G>A c.(4279-4281)GCA>ACA p.A1427T uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1427 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCACGTGCGGACTCTTTG 0.557 Ichthyosis F5 2153 broad.mit.edu 37 1 169510563 169510563 + Missense_Mutation SNP C G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:169510563C>G uc001ggg.1 - 13 3910 c.3765G>C c.(3763-3765)CAG>CAC p.Q1255H NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1255 2-8.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGAGGTTTGTCTGGCTGAGGT 0.522 OBSCN 84033 broad.mit.edu 37 1 228467603 228467603 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:228467603G>A uc009xez.1 + 28 7522 c.7478G>A c.(7477-7479)CGG>CAG p.R2493Q OBSCN_uc001hsn.2_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2493 Ig-like 24. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) TGCGACTTCCGGCCAGCCCCC 0.622 RYR2 6262 broad.mit.edu 37 1 237924281 237924281 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr1:237924281G>A uc001hyl.1 + 84 11549 c.11429G>A c.(11428-11430)CGA>CAA p.R3810Q RYR2_uc010pya.1_Missense_Mutation_p.R225Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3810 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) GCATTTGAGCGACAAAACAAA 0.393 ARHGAP21 57584 broad.mit.edu 37 10 24889768 24889768 + Missense_Mutation SNP G C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr10:24889768G>C uc001isb.2 - 14 3426 c.2939C>G c.(2938-2940)ACG>AGG p.T980R ARHGAP21_uc010qdb.1_RNA|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 979 Interaction with ARF1 and ARF6.|PH. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 AGACGGAGTCGTCTGCTCTCT 0.453 APBB1IP 54518 broad.mit.edu 37 10 26825105 26825105 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr10:26825105C>T uc001iss.2 + 10 1324 c.1003C>T c.(1003-1005)CGG>TGG p.R335W APBB1IP_uc009xks.1_Missense_Mutation_p.R335W NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 335 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium p.R335W(1) lung(4)|skin(2)|central_nervous_system(1) 7 TTTTCTTTTACGGGCTTCTGG 0.338 ANK3 288 broad.mit.edu 37 10 61829891 61829891 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr10:61829891G>A uc001jky.2 - 37 10940 c.10748C>T c.(10747-10749)ACG>ATG p.T3583M ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3583 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.T3583M(1) skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TCTGGCTGGCGTTGTATCAGG 0.488 OR5M3 219482 broad.mit.edu 37 11 56237372 56237372 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr11:56237372G>A uc010rjk.1 - 1 602 c.602C>T c.(601-603)GCC>GTC p.A201V NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GTTAATGCCGGCAAGTATGAT 0.413 OR9G4 283189 broad.mit.edu 37 11 56510792 56510792 + Nonsense_Mutation SNP C A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr11:56510792C>A uc010rjo.1 - 1 496 c.496G>T c.(496-498)GGA>TGA p.G166* NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 166 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 AAAAATCCTCCTATGTAGGAG 0.453 HNRNPUL2 221092 broad.mit.edu 37 11 62490074 62490074 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr11:62490074G>A uc001nuw.2 - 6 1287 c.1094C>T c.(1093-1095)GCT>GTT p.A365V HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 365 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 AGCACTTACAGCAAAGCAGCC 0.458 KLC2 64837 broad.mit.edu 37 11 66033175 66033175 + Nonsense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr11:66033175C>T uc010rov.1 + 12 1627 c.1384C>T c.(1384-1386)CAG>TAG p.Q462* KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.2_5'Flank NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 462 TPR 6. blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 ATACCGGCGCCAGGGCAAGCT 0.647 CHORDC1 26973 broad.mit.edu 37 11 89951306 89951306 + Silent SNP T C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr11:89951306T>C uc001pdg.2 - 2 521 c.111A>G c.(109-111)TTA>TTG p.L37L CHORDC1_uc009yvz.2_Silent_p.L37L NM_012124 NP_036256 Q9UHD1 CHRD1_HUMAN cysteine and histidine-rich domain-containing 37 Interaction with PPP5C (By similarity).|CHORD 1. chaperone-mediated protein folding|regulation of response to stress|response to stress Hsp90 protein binding|identical protein binding 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915) TTCCTACCTTTAATGCATCGT 0.313 KLRK1 22914 broad.mit.edu 37 12 10525755 10525755 + Silent SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:10525755A>G uc009zhj.2 - 8 773 c.609T>C c.(607-609)TGT>TGC p.C203C uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Silent_p.C203C|KLRK1_uc009zhk.2_Silent_p.C203C|KLRK1_uc001qyd.2_Silent_p.C203C NM_007360 NP_031386 P26718 NKG2D_HUMAN NKG2-D type II integral membrane protein 203 Extracellular (Potential).|C-type lectin. natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding 0 TTGGAGTTGAACAGTTTTCTA 0.279 PRB4 5545 broad.mit.edu 37 12 11461583 11461583 + Missense_Mutation SNP C G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:11461583C>G uc001qzf.1 - 3 368 c.334G>C c.(334-336)GGT>CGT p.G112R PRB4_uc001qzt.2_Missense_Mutation_p.G112R NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 154 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6. Missing (in allele M and allele S). Missing (in Ref. 7; CAA30542). extracellular region ovary(1) 1 GGTGGGGTACCTTGGGACTGG 0.607 HNSCC(22;0.051) PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:11461589A>G uc001qzf.1 - 3 362 c.328T>C c.(328-330)TCC>CCC p.S110P PRB4_uc001qzt.2_Missense_Mutation_p.S110P NM_002723 NP_002714 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|6. Missing (in allele M and allele S). extracellular region ovary(1) 1 GTACCTTGGGACTGGTTTCCT 0.602 HNSCC(22;0.051) PIK3C2G 5288 broad.mit.edu 37 12 18552608 18552608 + Missense_Mutation SNP G C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:18552608G>C uc001rdt.2 + 15 2135 c.2019G>C c.(2017-2019)AAG>AAC p.K673N PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.1_Missense_Mutation_p.K492N NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 673 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CTGAAGAAAAGAAAAGATATT 0.378 OR6C74 254783 broad.mit.edu 37 12 55641790 55641790 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:55641790C>T uc010spg.1 + 1 719 c.719C>T c.(718-720)TCT>TTT p.S240F NM_001005490 NP_001005490 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCTACATGTTCTTCCCACATG 0.373 LRP1 4035 broad.mit.edu 37 12 57569290 57569290 + Missense_Mutation SNP G C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:57569290G>C uc001snd.2 + 23 4061 c.3595G>C c.(3595-3597)GCA>CCA p.A1199P NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1199 EGF-like 5.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGCTCAGTGGCACCTGGCGA 0.602 OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GALNT9 50614 broad.mit.edu 37 12 132682414 132682414 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr12:132682414C>T uc001ukc.3 - 10 1704 c.1588G>A c.(1588-1590)GGC>AGC p.G530S GALNT9_uc009zyr.2_Missense_Mutation_p.G304S|GALNT9_uc001ukb.2_Missense_Mutation_p.G387S|GALNT9_uc001uka.2_Missense_Mutation_p.G164S NM_001122636 NP_001116108 Q9HCQ5 GALT9_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 530 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05) CGGCCCGTGCCGTCATCCACC 0.657 SYNE2 23224 broad.mit.edu 37 14 64457171 64457171 + Missense_Mutation SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr14:64457171A>G uc001xgm.2 + 20 2586 c.2356A>G c.(2356-2358)AGA>GGA p.R786G SYNE2_uc001xgl.2_Missense_Mutation_p.R786G NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 786 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) GCTTATGGCAAGAAGTGAAGA 0.343 GABRA5 2558 broad.mit.edu 37 15 27182399 27182399 + Silent SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr15:27182399G>A uc001zbd.1 + 9 987 c.648G>A c.(646-648)GCG>GCA p.A216A GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 216 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGGTGGTGGCGGAAGATGGCT 0.577 BAHD1 22893 broad.mit.edu 37 15 40751044 40751044 + Silent SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr15:40751044C>T uc001zlu.2 + 2 452 c.381C>T c.(379-381)CTC>CTT p.L127L BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 127 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CTGAAGCTCTCAATAACCTGC 0.682 CKMT1A 548596 broad.mit.edu 37 15 43991225 43991225 + Missense_Mutation SNP C T T rs148934583 TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr15:43991225C>T uc001zsn.2 + 10 1584 c.1192C>T c.(1192-1194)CGG>TGG p.R398W CKMT1A_uc010uea.1_Missense_Mutation_p.R429W|CKMT1A_uc001zso.3_Missense_Mutation_p.R398W NM_001015001 NP_001015001 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A precursor 398 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TGATTGTGAACGGCGTCTGGA 0.493 CREBBP 1387 broad.mit.edu 37 16 3807844 3807844 + Missense_Mutation SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr16:3807844A>G uc002cvv.2 - 18 3779 c.3575T>C c.(3574-3576)GTC>GCC p.V1192A CREBBP_uc002cvw.2_Missense_Mutation_p.V1154A NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1192 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGACTGCATGACAGGGTCAAT 0.443 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome XYLT1 64131 broad.mit.edu 37 16 17228564 17228564 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr16:17228564C>T uc002dfa.2 - 9 1878 c.1793G>A c.(1792-1794)CGC>CAC p.R598H NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 598 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 TTCAAACTTGCGGGCAAAGAA 0.552 RLTPR 146206 broad.mit.edu 37 16 67683162 67683162 + Frame_Shift_Del DEL C - - TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr16:67683162delC uc002etn.2 + 19 1814 c.1694delC c.(1693-1695)ACCfs p.T565fs RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.1_Frame_Shift_Del_p.T529fs NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 565 LRR 12. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CACAGGGAGACCCTGGACGAC 0.637 ZNF23 7571 broad.mit.edu 37 16 71482423 71482423 + Missense_Mutation SNP T C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr16:71482423T>C uc002faf.2 - 6 2319 c.1505A>G c.(1504-1506)AAG>AGG p.K502R ZNF23_uc002fad.2_Missense_Mutation_p.K444R|ZNF23_uc002fae.2_Missense_Mutation_p.K444R|ZNF23_uc010vmf.1_Missense_Mutation_p.K444R|ZNF23_uc002fag.2_Missense_Mutation_p.K444R|ZNF23_uc002fah.2_Missense_Mutation_p.K502R|ZNF23_uc002fai.2_Missense_Mutation_p.K541R NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 502 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TTGATAGGGCTTTTCTCCAGT 0.403 MYH2 4620 broad.mit.edu 37 17 10428788 10428788 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:10428788C>T uc010coi.2 - 32 4645 c.4517G>A c.(4516-4518)CGA>CAA p.R1506Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1506Q|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1506 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1506*(1) ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTTGTTCTCTCGCTTCAGGGT 0.428 MYH2 4620 broad.mit.edu 37 17 10442604 10442604 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:10442604C>T uc010coi.2 - 14 1462 c.1334G>A c.(1333-1335)CGC>CAC p.R445H uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R445H|MYH2_uc010coj.2_Missense_Mutation_p.R445H NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 445 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 p.R445H(1) ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGGTTGATGCGGGCAACCAT 0.473 GAS2L2 246176 broad.mit.edu 37 17 34074267 34074267 + Silent SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:34074267G>A uc002hjv.1 - 5 881 c.853C>T c.(853-855)CTG>TTG p.L285L NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 285 cell cycle arrest cytoplasm|cytoskeleton ovary(1)|skin(1) 2 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGGGCTTCAGGAAGCTGCCT 0.597 KRT33B 3884 broad.mit.edu 37 17 39522870 39522870 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:39522870G>A uc002hwl.2 - 3 485 c.440C>T c.(439-441)ACG>ATG p.T147M NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 147 Rod.|Coil 1B. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) GGACTGCTCCGTCTGGTACCT 0.517 KRT34 3885 broad.mit.edu 37 17 39535941 39535941 + Missense_Mutation SNP C T T rs140296098 byFrequency TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:39535941C>T uc002hwm.2 - 4 769 c.757G>A c.(757-759)GTG>ATG p.V253M NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 253 Rod.|Linker 12. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) TCCACCTCCACGTTGAGGCGG 0.552 OTOP3 347741 broad.mit.edu 37 17 72937902 72937902 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr17:72937902G>A uc010wrr.1 + 2 488 c.488G>A c.(487-489)CGG>CAG p.R163Q OTOP3_uc010wrq.1_Missense_Mutation_p.R145Q NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 163 Helical; (Potential). integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) CTCTGGGTGCGGGGTGAGTGT 0.687 ZFR2 23217 broad.mit.edu 37 19 3825291 3825291 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr19:3825291C>T uc002lyw.2 - 7 1162 c.1150G>A c.(1150-1152)GTG>ATG p.V384M ZFR2_uc010xhx.1_Intron NM_015174 NP_055989 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 isoform 1 384 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) GAGGCACACACGCTGGGGCCA 0.672 OR7D2 162998 broad.mit.edu 37 19 9297245 9297245 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr19:9297245C>T uc002mkz.1 + 1 976 c.788C>T c.(787-789)GCG>GTG p.A263V NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 263 Extracellular (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 TTCACTTCTGCGGTGACTCAC 0.507 TRMT1 55621 broad.mit.edu 37 19 13218442 13218442 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr19:13218442C>T uc002mwj.2 - 13 1779 c.1529G>A c.(1528-1530)CGG>CAG p.R510Q TRMT1_uc010xmy.1_Missense_Mutation_p.R114Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R510Q|TRMT1_uc010xmz.1_Missense_Mutation_p.R296Q NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 510 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TAGTCGCTCCCGTTTCACCGG 0.617 LOC284441 284441 broad.mit.edu 37 19 20369998 20369998 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr19:20369998G>A uc002nov.2 + 1 1542 c.791G>A c.(790-792)CGA>CAA p.R264Q NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 CGGTTGAAACGAGAACTTAAA 0.418 NLRP2 55655 broad.mit.edu 37 19 55494686 55494686 + Silent SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr19:55494686C>T uc002qij.2 + 6 1706 c.1620C>T c.(1618-1620)TCC>TCT p.S540S NLRP2_uc010yfp.1_Silent_p.S517S|NLRP2_uc010esn.2_Silent_p.S516S|NLRP2_uc010eso.2_Silent_p.S537S|NLRP2_uc010esp.2_Silent_p.S518S NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 540 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AGCTGCTTTCCGGAGTAGAAA 0.552 SCN7A 6332 broad.mit.edu 37 2 167327191 167327191 + Missense_Mutation SNP C A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr2:167327191C>A uc002udu.1 - 6 725 c.598G>T c.(598-600)GAC>TAC p.D200Y SCN7A_uc010fpm.1_RNA NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 200 Helical; Name=S3 of repeat I; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 GGAATGAAGTCCAGAGGTGAG 0.294 PDYN 5173 broad.mit.edu 37 20 1961100 1961100 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr20:1961100G>A uc010gaj.2 - 3 876 c.634C>T c.(634-636)CGG>TGG p.R212W uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R212W|PDYN_uc010zpt.1_Missense_Mutation_p.R57W NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 212 R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect). cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 CGAATGCGCCGCAAGAAGCCC 0.587 SPAG4 6676 broad.mit.edu 37 20 34206631 34206631 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr20:34206631G>A uc002xdb.1 + 7 823 c.706G>A c.(706-708)GCC>ACC p.A236T SPAG4_uc010zvi.1_Missense_Mutation_p.A159T NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 236 Potential. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TGTTCGGGCAGCCAACAGCGA 0.642 PCIF1 63935 broad.mit.edu 37 20 44571848 44571848 + Silent SNP C T T rs35751664 TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr20:44571848C>T uc002xqs.2 + 8 1100 c.786C>T c.(784-786)TCC>TCT p.S262S PCIF1_uc002xqt.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 262 nucleus skin(1) 1 TGTCACCTTCCATGTTTCGTG 0.527 RIPK4 54101 broad.mit.edu 37 21 43161994 43161994 + Silent SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr21:43161994G>A uc002yzn.1 - 8 1407 c.1359C>T c.(1357-1359)TGC>TGT p.C453C NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 453 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.C453C(1) ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 GCCACTTGGCGCACTCCTCTT 0.657 SLC5A4 6527 broad.mit.edu 37 22 32650199 32650199 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr22:32650199G>A uc003ami.2 - 2 139 c.137C>T c.(136-138)GCG>GTG p.A46V NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 46 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CTTCAGCATCGCCTGAGCAGA 0.572 ISX 91464 broad.mit.edu 37 22 35480407 35480407 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr22:35480407G>A uc003anj.2 + 3 1364 c.413G>A c.(412-414)CGG>CAG p.R138Q ISX_uc011amg.1_Missense_Mutation_p.R126Q NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 138 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 GCCAAGTGGCGGAAGCAGGAG 0.537 SGSM3 27352 broad.mit.edu 37 22 40803235 40803235 + Missense_Mutation SNP A G G TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr22:40803235A>G uc003ayu.1 + 12 1480 c.1271A>G c.(1270-1272)AAG>AGG p.K424R SGSM3_uc011aos.1_Missense_Mutation_p.K357R|SGSM3_uc011aot.1_Missense_Mutation_p.K361R|SGSM3_uc010gyd.1_Missense_Mutation_p.K467R NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 424 Potential. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 CTCAAGGCCAAGAACATCAAG 0.627 RBMS3 27303 broad.mit.edu 37 3 29938905 29938905 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr3:29938905G>A uc003cel.2 + 9 1057 c.827G>A c.(826-828)CGC>CAC p.R276H RBMS3_uc003cek.2_Missense_Mutation_p.R276H|RBMS3_uc010hfq.2_Missense_Mutation_p.R289H|RBMS3_uc003cem.2_Missense_Mutation_p.R275H|RBMS3_uc010hfr.2_Missense_Mutation_p.R276H NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting 276 cytoplasm nucleotide binding|RNA binding central_nervous_system(1) 1 Ovarian(412;0.0956) GCAACCAACCGCATGATTCCA 0.433 DNAH1 25981 broad.mit.edu 37 3 52422625 52422625 + Silent SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr3:52422625G>A uc011bef.1 + 58 9624 c.9363G>A c.(9361-9363)AAG>AAA p.K3121K DNAH1_uc003ddv.2_5'UTR NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3121 Potential. ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGCTGGCAAGGTGCGCACCC 0.657 FETUB 26998 broad.mit.edu 37 3 186362610 186362610 + Missense_Mutation SNP C A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr3:186362610C>A uc010hyq.2 + 5 756 c.495C>A c.(493-495)CAC>CAA p.H165Q FETUB_uc011brz.1_Missense_Mutation_p.H17Q|FETUB_uc003fqn.2_Missense_Mutation_p.H165Q|FETUB_uc003fqo.2_Missense_Mutation_p.H60Q|FETUB_uc010hyr.2_Missense_Mutation_p.H128Q|FETUB_uc010hys.2_Missense_Mutation_p.H17Q|FETUB_uc003fqp.3_Missense_Mutation_p.H100Q NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 165 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CTTCCAATCACCAAGTGCTGG 0.443 GABRA4 2557 broad.mit.edu 37 4 46973176 46973176 + Silent SNP C T T rs147092196 TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr4:46973176C>T uc003gxg.2 - 7 937 c.798G>A c.(796-798)CCG>CCA p.P266P NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 266 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) TCATAATGCACGGAATATAGG 0.368 UGT2B7 7364 broad.mit.edu 37 4 69962448 69962448 + Silent SNP C T T rs151180306 TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr4:69962448C>T uc003heg.3 + 1 256 c.210C>T c.(208-210)TCC>TCT p.S70S UGT2B7_uc010ihq.2_Silent_p.S70S NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 70 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 ACAACTCATCCGCTCTTAAAA 0.373 GLRA3 8001 broad.mit.edu 37 4 175598335 175598335 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr4:175598335G>A uc003ity.1 - 7 1324 c.821C>T c.(820-822)TCA>TTA p.S274L GLRA3_uc003itz.1_Missense_Mutation_p.S274L NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 274 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GATCCAGAATGAAACCCAGGA 0.478 PRDM9 56979 broad.mit.edu 37 5 23526914 23526914 + Missense_Mutation SNP A T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:23526914A>T uc003jgo.2 + 11 1899 c.1717A>T c.(1717-1719)ATA>TTA p.I573L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 573 C2H2-type 3. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 TCACCAGAGGATACACACAGG 0.562 HNSCC(3;0.000094) AP3S1 1176 broad.mit.edu 37 5 115249179 115249179 + Missense_Mutation SNP T C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:115249179T>C uc003krl.2 + 6 690 c.574T>C c.(574-576)TTT>CTT p.F192L AP3S1_uc003krk.2_Missense_Mutation_p.F170L|AP3S1_uc003krm.2_Missense_Mutation_p.F156L NM_001284 NP_001275 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 192 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) CCTGCCCTCTTTTAAATAAAA 0.393 PCDHA13 56136 broad.mit.edu 37 5 140263908 140263908 + Silent SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:140263908C>T uc003lif.2 + 1 2055 c.2055C>T c.(2053-2055)GGC>GGT p.G685G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G685G|PCDHA13_uc003lid.2_Silent_p.G685G NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 685 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTCGGCAGGCGCTGTGGGTC 0.632 PCDHB12 56124 broad.mit.edu 37 5 140590224 140590224 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:140590224C>T uc003liz.2 + 1 1934 c.1745C>T c.(1744-1746)CCG>CTG p.P582L PCDHB12_uc011dak.1_Missense_Mutation_p.P245L NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 582 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCCGAGCCGGGCTACCTG 0.692 PCDHGA5 56110 broad.mit.edu 37 5 140745008 140745008 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:140745008G>A uc003lju.1 + 1 1111 c.1111G>A c.(1111-1113)GTA>ATA p.V371I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.V371I NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 371 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGTTTAGCGTACATGATGG 0.443 DOCK2 1794 broad.mit.edu 37 5 169503081 169503081 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr5:169503081G>A uc003maf.2 + 47 4939 c.4859G>A c.(4858-4860)CGA>CAA p.R1620Q DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.R1112Q|DOCK2_uc003mah.2_Missense_Mutation_p.R176Q NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1620 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACGGTGTCCGAGAGATGGTA 0.532 AGPAT1 10554 broad.mit.edu 37 6 32138354 32138354 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:32138354G>A uc003oae.2 - 4 676 c.358C>T c.(358-360)CGC>TGC p.R120C PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Missense_Mutation_p.R84C|AGPAT1_uc003oaf.2_Missense_Mutation_p.R120C|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.1_Missense_Mutation_p.R8C NM_006411 NP_006402 Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 120 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1) 1 GGCACACAGCGGCCTGGCAGT 0.652 SPDEF 25803 broad.mit.edu 37 6 34508955 34508955 + Missense_Mutation SNP G C C TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:34508955G>C uc003ojq.1 - 3 855 c.440C>G c.(439-441)CCC>CGC p.P147R SPDEF_uc011dsq.1_Missense_Mutation_p.P147R NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 147 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P147R(1) skin(3)|ovary(1)|central_nervous_system(1) 5 CCAGTCCATGGGATCTGGGCA 0.647 KHDRBS2 202559 broad.mit.edu 37 6 62604709 62604709 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:62604709G>A uc003peg.2 - 6 888 c.641C>T c.(640-642)CCA>CTA p.P214L NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 214 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCCAGGTGGTGGGGGAGGAGG 0.557 ANKRD6 22881 broad.mit.edu 37 6 90337365 90337365 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:90337365C>T uc003pni.3 + 14 1776 c.1435C>T c.(1435-1437)CGC>TGC p.R479C ANKRD6_uc003pne.3_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.3_Missense_Mutation_p.R444C|ANKRD6_uc011dzy.1_Missense_Mutation_p.R479C|ANKRD6_uc010kcd.2_Missense_Mutation_p.R420C|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_Missense_Mutation_p.R75C|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_Missense_Mutation_p.R75C NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 479 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GTGCCTGAACCGCCTGCAACA 0.512 KIAA1244 57221 broad.mit.edu 37 6 138531166 138531166 + Silent SNP G T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:138531166G>T uc003qhu.2 + 4 339 c.339G>T c.(337-339)GTG>GTT p.V113V NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 113 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACCTGCAGGTGGAAGTGATGA 0.502 KIAA1244 57221 broad.mit.edu 37 6 138657552 138657552 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:138657552G>A uc003qhu.2 + 34 6463 c.6463G>A c.(6463-6465)GAC>AAC p.D2155N NM_020340 NP_065073 Q5TH69 BIG3_HUMAN brefeldin A-inhibited guanine 2155 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1)|skin(1) 2 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCACGTGACCGACATCAGAGT 0.562 PLG 5340 broad.mit.edu 37 6 161139731 161139731 + Silent SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr6:161139731G>A uc003qtm.3 + 9 1020 c.957G>A c.(955-957)TTG>TTA p.L319L NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 319 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCAGAAATTTGGATGAAAACT 0.453 GHRHR 2692 broad.mit.edu 37 7 31016046 31016046 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr7:31016046G>A uc003tbx.2 + 11 1025 c.977G>A c.(976-978)CGT>CAT p.R326H GHRHR_uc003tby.2_Missense_Mutation_p.R262H|GHRHR_uc003tbz.2_Silent_p.A92A NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 326 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) TCCTGCAGGCGTCTCTCCAAG 0.423 EGFR 1956 broad.mit.edu 37 7 55220274 55220274 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr7:55220274C>T uc003tqk.2 + 6 910 c.664C>T c.(664-666)CGC>TGC p.R222C EGFR_uc003tqh.2_Missense_Mutation_p.R222C|EGFR_uc003tqi.2_Missense_Mutation_p.R222C|EGFR_uc003tqj.2_Missense_Mutation_p.R222C|EGFR_uc010kzg.1_Missense_Mutation_p.R177C|EGFR_uc011kco.1_Missense_Mutation_p.R169C|EGFR_uc003tql.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 222 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R222C(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGCTCCGGGCGCTGCCGTGG 0.597 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) WBSCR28 135886 broad.mit.edu 37 7 73280082 73280082 + Missense_Mutation SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr7:73280082C>T uc003tzk.2 + 3 713 c.677C>T c.(676-678)GCC>GTC p.A226V RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Missense_Mutation_p.A125V NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 226 integral to membrane breast(1) 1 Lung NSC(55;0.159) ACCCAGCTGGCCGAGGCCCAG 0.627 ASNS 440 broad.mit.edu 37 7 97484694 97484694 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr7:97484694G>A uc003uot.3 - 9 1614 c.1108C>T c.(1108-1110)CTT>TTT p.L370F ASNS_uc011kin.1_Missense_Mutation_p.L287F|ASNS_uc003uou.3_Missense_Mutation_p.L370F|ASNS_uc003uov.3_Missense_Mutation_p.L370F|ASNS_uc011kio.1_Missense_Mutation_p.L349F|ASNS_uc003uow.3_Missense_Mutation_p.L349F|ASNS_uc003uox.3_Missense_Mutation_p.L287F NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 370 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCCTGCGTAAGTTCATCTGAT 0.338 CNTNAP2 26047 broad.mit.edu 37 7 146997332 146997332 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr7:146997332G>A uc003weu.1 + 9 1964 c.1448G>A c.(1447-1449)CGA>CAA p.R483Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 483 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAGCAGTTCGAACTAATAGT 0.423 HNSCC(39;0.1) PTPRD 5789 broad.mit.edu 37 9 8633320 8633320 + Missense_Mutation SNP G A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr9:8633320G>A uc003zkk.2 - 13 1060 c.349C>T c.(349-351)CGG>TGG p.R117W PTPRD_uc003zkp.2_Missense_Mutation_p.R117W|PTPRD_uc003zkq.2_Missense_Mutation_p.R117W|PTPRD_uc003zkr.2_Missense_Mutation_p.R117W|PTPRD_uc003zks.2_Missense_Mutation_p.R117W|PTPRD_uc003zkl.2_Missense_Mutation_p.R117W|PTPRD_uc003zkm.2_Missense_Mutation_p.R117W|PTPRD_uc003zkn.2_Missense_Mutation_p.R117W|PTPRD_uc003zko.2_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 117 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CACTTACCCCGCAAAACTGTG 0.418 TSP Lung(15;0.13) KIAA1797 54914 broad.mit.edu 37 9 20976500 20976500 + Missense_Mutation SNP C A A TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr9:20976500C>A uc003zog.1 + 38 4577 c.4214C>A c.(4213-4215)CCT>CAT p.P1405H KIAA1797_uc003zoh.1_Missense_Mutation_p.P841H NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1405 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) CAATATCCTCCTGTGAACTGG 0.393 NXNL2 158046 broad.mit.edu 37 9 91150637 91150637 + Silent SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr9:91150637C>T uc011ltj.1 + 1 622 c.288C>T c.(286-288)CAC>CAT p.H96H NXNL2_uc004aqa.2_Silent_p.H96H NM_001161625 NP_001155097 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 isoform 1 96 Thioredoxin. 0 TGCCCTTCCACGACCCCTACC 0.602 CERCAM 51148 broad.mit.edu 37 9 131185156 131185156 + Silent SNP G A A rs147490658 by1000genomes TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chr9:131185156G>A uc004buz.3 + 2 605 c.207G>A c.(205-207)ACG>ACA p.T69T CERCAM_uc004buy.1_5'UTR|CERCAM_uc010mxz.2_5'UTR|CERCAM_uc010mya.1_5'Flank NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 69 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 GGTGTGCCACGGACCACAATG 0.602 ELF4 2000 broad.mit.edu 37 X 129200915 129200915 + Silent SNP C T T TCGA-06-0154-01A-03D-1491-08 TCGA-06-0154-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx f5045707-3ddd-4ade-959a-b368437752fb bfc36431-e6a1-4c02-98c1-6bcca13ea93b g.chrX:129200915C>T uc004evd.3 - 9 2158 c.1773G>A c.(1771-1773)CCG>CCA p.P591P ELF4_uc004eve.3_Silent_p.P591P NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 591 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCAGAAGGCTCGGATTGTGGG 0.607 T ERG AML