Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values KIAA1751 85452 broad.mit.edu 37 1 1918455 1918455 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:1918455G>A uc001aim.1 - 5 472 c.316C>T c.(316-318)CGG>TGG p.R106W KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 106 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) CGCCTCTGCCGACAGGCGCGC 0.632 EIF4G3 8672 broad.mit.edu 37 1 21268743 21268743 + Missense_Mutation SNP G C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:21268743G>C uc001bec.2 - 9 992 c.736C>G c.(736-738)CAA>GAA p.Q246E EIF4G3_uc010odi.1_5'UTR|EIF4G3_uc010odj.1_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.2_Intron|EIF4G3_uc001bed.2_Missense_Mutation_p.Q246E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.2_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.1_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.2_Missense_Mutation_p.Q257E NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 246 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGCCTTCTTGTTCTTTCTTC 0.448 RPL5 6125 broad.mit.edu 37 1 93298955 93298955 + Frame_Shift_Del DEL A - - TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:93298955delA uc001doz.2 + 2 91 c.13delA c.(13-15)AAAfs p.K5fs FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_5'UTR|RPL5_uc001dpd.2_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 5 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) GGGGTTTGTTAAAGTTGTTAA 0.299 OVGP1 5016 broad.mit.edu 37 1 111957411 111957411 + Missense_Mutation SNP C T T rs150120731 byFrequency TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:111957411C>T uc001eba.2 - 11 1768 c.1712G>A c.(1711-1713)CGT>CAT p.R571H OVGP1_uc001eaz.2_Missense_Mutation_p.R533H|OVGP1_uc010owb.1_Missense_Mutation_p.R219H NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 571 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CACCTTTTCACGGGCCACAGC 0.527 SH2D1B 117157 broad.mit.edu 37 1 162368789 162368789 + Missense_Mutation SNP T C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:162368789T>C uc001gbz.1 - 3 409 c.287A>G c.(286-288)CAC>CGC p.H96R SH2D1B_uc001gca.1_Intron NM_053282 NP_444512 O14796 SH21B_HUMAN SH2 domain containing 1B 96 SH2. pancreas(1) 1 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CTTTAAAAGGTGAACCACCAT 0.423 RYR2 6262 broad.mit.edu 37 1 237947200 237947200 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:237947200C>T uc001hyl.1 + 90 12308 c.12188C>T c.(12187-12189)ACG>ATG p.T4063M RYR2_uc010pya.1_Missense_Mutation_p.T478M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4063 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) CAGTCAGAAACGGAATTTCTT 0.483 OR2T3 343173 broad.mit.edu 37 1 248637275 248637275 + Nonsense_Mutation SNP C A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr1:248637275C>A uc001iel.1 + 1 624 c.624C>A c.(622-624)TGC>TGA p.C208* NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCTGTGCTGCATCCTCATGC 0.532 MRC1 4360 broad.mit.edu 37 10 17949554 17949554 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr10:17949554G>A uc001ipk.2 + 28 4021 c.3918G>A c.(3916-3918)ACG>ACA p.T1306T NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1306 Extracellular (Potential).|C-type lectin 8. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 GACCAGGGACGTGGCTGTGGA 0.383 CTNNA3 29119 broad.mit.edu 37 10 69407205 69407205 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr10:69407205C>T uc009xpn.1 - 2 190 c.67G>A c.(67-69)GTG>ATG p.V23M CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.3_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_Translation_Start_Site|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 23 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AGCTTCTCCACGGTGAATGTT 0.393 LOC653544 653544 broad.mit.edu 37 10 135491113 135491113 + Missense_Mutation SNP G A A rs150899513 by1000genomes TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr10:135491113G>A uc010qvi.1 + 1 835 c.724G>A c.(724-726)GCC>ACC p.A242T NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 242 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGTCGCCTTCGCCCACACCGG 0.776 TTC17 55761 broad.mit.edu 37 11 43411222 43411222 + Missense_Mutation SNP A C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr11:43411222A>C uc001mxi.2 + 3 284 c.270A>C c.(268-270)AAA>AAC p.K90N TTC17_uc001mxh.2_Missense_Mutation_p.K90N|TTC17_uc010rfj.1_Missense_Mutation_p.K33N NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 90 binding ovary(5) 5 TTGCTCAAAAAATTCACATAG 0.393 OR4D9 390199 broad.mit.edu 37 11 59282555 59282555 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr11:59282555C>T uc010rkv.1 + 1 170 c.170C>T c.(169-171)ACG>ATG p.T57M NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 57 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACCTTCATACGCCCATGTAC 0.433 GLB1L3 112937 broad.mit.edu 37 11 134182345 134182345 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr11:134182345G>A uc009zdf.2 + 14 1750 c.1390G>A c.(1390-1392)GGA>AGA p.G464R GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 464 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CATCTGCTCCGGAGGCCGCCT 0.607 KLRD1 3824 broad.mit.edu 37 12 10466085 10466085 + Missense_Mutation SNP A T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr12:10466085A>T uc001qxw.3 + 6 589 c.392A>T c.(391-393)GAG>GTG p.E131V KLRD1_uc001qxx.3_Missense_Mutation_p.E131V|KLRD1_uc001qxy.3_Missense_Mutation_p.E100V|KLRD1_uc009zhh.2_Missense_Mutation_p.E110V|KLRD1_uc009zhi.2_3'UTR|KLRD1_uc001qxz.3_Missense_Mutation_p.E132V NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, 131 Extracellular (Potential).|C-type lectin. cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 TGGTTGTGGGAGAATGGCTCT 0.418 TEP1 7011 broad.mit.edu 37 14 20848171 20848171 + Missense_Mutation SNP A G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr14:20848171A>G uc001vxe.2 - 35 5085 c.5045T>C c.(5044-5046)GTG>GCG p.V1682A TEP1_uc010ahk.2_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1682 WD 2. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) GGAGAAGGCCACAGCAGTAGG 0.507 CHD8 57680 broad.mit.edu 37 14 21860822 21860832 + Frame_Shift_Del DEL AGGAGTCAATG - - TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr14:21860822_21860832delAGGAGTCAATG uc001was.1 - 34 5862_5872 c.5768_5778delCATTGACTCCT c.(5767-5778)TCATTGACTCCTfs p.S1923fs CHD8_uc001war.1_Frame_Shift_Del_p.S1819fs|SNORD9_uc001wat.1_5'Flank NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2202_2205 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CATATTCTCCAGGAGTCAATGAGGGACTGTC 0.555 TMEM229B 161145 broad.mit.edu 37 14 67940502 67940502 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr14:67940502C>T uc001xjk.2 - 3 549 c.139G>A c.(139-141)GTG>ATG p.V47M TMEM229B_uc001xjj.1_RNA NM_182526 NP_872332 Q8NBD8 T229B_HUMAN transmembrane protein 229B 47 Helical; (Potential). integral to membrane central_nervous_system(1) 1 AGGGCCCACACGCTCGTGACC 0.617 OR4N3P 390539 broad.mit.edu 37 15 22414262 22414262 + Silent SNP C T T rs1429510 by1000genomes TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr15:22414262C>T uc001yuf.2 + 1 561 c.561C>T c.(559-561)GCC>GCT p.A187A NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 CTTTCCCAGCCGACAAGGTGG 0.453 GOLGA8DP 100132979 broad.mit.edu 37 15 22709197 22709197 + Missense_Mutation SNP A G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr15:22709197A>G uc010axw.2 - 11 1200 c.302T>C c.(301-303)GTG>GCG p.V101A GOLGA8DP_uc010axx.2_Missense_Mutation_p.V101A|uc010tzw.1_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E 0 CTGCAGCTCCACCTCAGAGGG 0.522 PTX4 390667 broad.mit.edu 37 16 1537571 1537571 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr16:1537571C>T uc010uvf.1 - 2 527 c.527G>A c.(526-528)GGC>GAC p.G176D NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 181 extracellular region metal ion binding 0 GGCTGCAGTGCCAGGGTGGGC 0.726 PRKCB 5579 broad.mit.edu 37 16 24104126 24104126 + Missense_Mutation SNP A T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr16:24104126A>T uc002dmd.2 + 6 741 c.544A>T c.(544-546)AAC>TAC p.N182Y PRKCB_uc002dme.2_Missense_Mutation_p.N182Y NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 182 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) AGATGCTAAAAACCTTGTACC 0.418 SPNS1 83985 broad.mit.edu 37 16 28992797 28992797 + Missense_Mutation SNP C A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr16:28992797C>A uc010vdi.1 + 7 810 c.670C>A c.(670-672)CCG>ACG p.P224T uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|SPNS1_uc010byq.1_Missense_Mutation_p.P156T NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 224 Helical; (Potential). lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 CCAGGTGACACCGGGTCTAGG 0.622 OREG0023712 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SETD1A 9739 broad.mit.edu 37 16 30970183 30970183 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr16:30970183G>A uc002ead.1 + 2 817 c.131G>A c.(130-132)GGA>GAA p.G44E SETD1A_uc002eae.1_Missense_Mutation_p.G44E NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CGCTATGATGGAGTCCACTTC 0.597 PLD2 5338 broad.mit.edu 37 17 4714202 4714202 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr17:4714202G>A uc002fzc.2 + 10 1067 c.966G>A c.(964-966)CGG>CGA p.R322R PLD2_uc010vsj.1_Silent_p.R179R|PLD2_uc002fzd.2_Silent_p.R322R NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 322 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) AGCTGCACCGGCATGACAGCT 0.617 ZPBP2 124626 broad.mit.edu 37 17 38027064 38027064 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr17:38027064C>T uc002hte.2 + 3 389 c.236C>T c.(235-237)ACG>ATG p.T79M ZPBP2_uc002htf.2_Missense_Mutation_p.T57M NM_199321 NP_955353 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 isoform 2 79 binding of sperm to zona pellucida extracellular region ovary(1) 1 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) AATGAAAAGACGTTAACAGGT 0.284 AKAP1 8165 broad.mit.edu 37 17 55189944 55189944 + Missense_Mutation SNP T A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr17:55189944T>A uc002iux.2 + 5 2299 c.2068T>A c.(2068-2070)TCA>ACA p.S690T AKAP1_uc010wnl.1_Missense_Mutation_p.S690T|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.S690T NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 690 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) CCCATTGCCTTCACTGGCACT 0.502 MPO 4353 broad.mit.edu 37 17 56352985 56352985 + Missense_Mutation SNP G C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr17:56352985G>C uc002ivu.1 - 8 1460 c.1283C>G c.(1282-1284)ACA>AGA p.T428R NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 428 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CTTGAGCTCTGTGGCCAGCCG 0.617 LRP3 4037 broad.mit.edu 37 19 33696170 33696170 + Missense_Mutation SNP C G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr19:33696170C>G uc010edh.2 + 5 587 c.494C>G c.(493-495)TCC>TGC p.S165C LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.3_Missense_Mutation_p.S39C NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 165 Extracellular (Potential).|LDL-receptor class A 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) GGCCAGGCATCCTGCCAGGCA 0.662 ZNF540 163255 broad.mit.edu 37 19 38103381 38103381 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr19:38103381G>A uc002ogq.2 + 5 1532 c.1200G>A c.(1198-1200)CGG>CGA p.R400R ZNF540_uc002ogu.2_Silent_p.R400R|ZNF540_uc010efq.2_Silent_p.R368R NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 400 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCTTAATCGGCATAAAACAA 0.373 NCR1 9437 broad.mit.edu 37 19 55420766 55420766 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr19:55420766C>T uc002qib.2 + 4 556 c.518C>T c.(517-519)GCG>GTG p.A173V NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 173 Extracellular (Potential).|Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) AAGGTCCAGGCGGAGTTCCCC 0.572 APOB 338 broad.mit.edu 37 2 21228712 21228712 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:21228712G>A uc002red.2 - 26 11156 c.11028C>T c.(11026-11028)ATC>ATT p.I3676I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3676 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGACTGGTAGGATGATATTTT 0.453 NLRC4 58484 broad.mit.edu 37 2 32460481 32460481 + Missense_Mutation SNP A C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:32460481A>C uc002roi.2 - 8 3017 c.2771T>G c.(2770-2772)ATT>AGT p.I924S NLRC4_uc002roj.1_Missense_Mutation_p.I924S|NLRC4_uc010ezt.1_Missense_Mutation_p.I259S NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 924 LRR 11. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TAAAATTCTAATCTCTGTATC 0.428 CEP68 23177 broad.mit.edu 37 2 65296848 65296848 + Silent SNP C A A rs112673076 TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:65296848C>A uc002sdl.3 + 2 484 c.270C>A c.(268-270)CCC>CCA p.P90P CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.3_Silent_p.P90P|CEP68_uc010yqc.1_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 90 centrosome organization centrosome skin(1) 1 ACAGAGAGCCCGTAGCTGAGA 0.627 FAM123C 205147 broad.mit.edu 37 2 131520873 131520873 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:131520873G>A uc002trw.2 + 2 1418 c.1228G>A c.(1228-1230)GCC>ACC p.A410T FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 410 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CACTCCTGCCGCCACCTTCCC 0.617 SCN3A 6328 broad.mit.edu 37 2 165997260 165997260 + Silent SNP T C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:165997260T>C uc002ucx.2 - 13 2412 c.1920A>G c.(1918-1920)GCA>GCG p.A640A SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 640 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) TCTTCCCATTTGCTGGAAGCC 0.542 TTN 7273 broad.mit.edu 37 2 179647077 179647077 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:179647077G>A uc010zfg.1 - 20 3466 c.3242C>T c.(3241-3243)GCG>GTG p.A1081V TTN_uc010zfh.1_Missense_Mutation_p.A1035V|TTN_uc010zfi.1_Missense_Mutation_p.A1035V|TTN_uc010zfj.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1081 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) AAAGTAAGGCGCGGCAGGTTC 0.502 MARS2 92935 broad.mit.edu 37 2 198570303 198570303 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:198570303G>A uc002uuq.2 + 1 217 c.174G>A c.(172-174)CCG>CCA p.P58P uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 58 HIGH region. methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) ACGCGGCGCCGCACATCGGGC 0.642 HDLBP 3069 broad.mit.edu 37 2 242202197 242202197 + Missense_Mutation SNP T C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr2:242202197T>C uc002waz.2 - 5 607 c.379A>G c.(379-381)ATC>GTC p.I127V HDLBP_uc002wba.2_Missense_Mutation_p.I127V|HDLBP_uc002wbb.2_Missense_Mutation_p.I148V|HDLBP_uc010fzn.1_Intron|uc010zoo.1_5'Flank NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 127 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GACACCATGATGGAGAGGCCT 0.512 HM13 81502 broad.mit.edu 37 20 30136902 30136902 + Missense_Mutation SNP G T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr20:30136902G>T uc002wwe.2 + 5 639 c.525G>T c.(523-525)TGG>TGT p.W175C HM13_uc002wwc.2_Missense_Mutation_p.W175C|HM13_uc002wwd.2_Missense_Mutation_p.W175C|HM13_uc002wwf.2_Missense_Mutation_p.W51C|HM13_uc010gdu.2_Missense_Mutation_p.W51C NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 175 Cytoplasmic (Potential). membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TTGGCGTCTGGTACCTGCTGA 0.577 HUNK 30811 broad.mit.edu 37 21 33296873 33296873 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr21:33296873C>T uc002yph.2 + 2 715 c.355C>T c.(355-357)CGC>TGC p.R119C NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 119 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 GCAGATGATCCGCCACCCCAA 0.488 LZTR1 8216 broad.mit.edu 37 22 21344765 21344765 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr22:21344765G>A uc002zto.2 + 8 845 c.742G>A c.(742-744)GGA>AGA p.G248R LZTR1_uc002ztn.2_Missense_Mutation_p.G207R|LZTR1_uc011ahy.1_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 248 Kelch 4. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGGCAAAGCGGAGCCAAAAT 0.562 DEPDC5 9681 broad.mit.edu 37 22 32198714 32198715 + Frame_Shift_Ins INS - C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr22:32198714_32198715insC uc003als.2 + 15 1113_1114 c.971_972insC c.(970-972)CGCfs p.R324fs DEPDC5_uc011als.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alu.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.1_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.1_Frame_Shift_Ins_p.R296fs NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 324 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TACATCAACCGCAACTTTGACC 0.446 SBF1 6305 broad.mit.edu 37 22 50895482 50895483 + In_Frame_Ins INS - GAGGCC GAGGCC TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr22:50895482_50895483insGAGGCC uc003blh.2 - 29 4079_4080 c.3884_3885insGGCCTC c.(3883-3885)TCC>TCGGCCTCC p.1295_1295S>SAS SBF1_uc003ble.2_5'Flank|SBF1_uc003blf.2_5'Flank|SBF1_uc011arx.1_Intron NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGGTCCGTCTGGAGGCCGAGGC 0.678 SLC6A20 54716 broad.mit.edu 37 3 45800488 45800488 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr3:45800488G>A uc011bai.1 - 11 1885 c.1761C>T c.(1759-1761)GAC>GAT p.D587D SLC6A20_uc003cow.2_Silent_p.D237D|SLC6A20_uc011baj.1_Silent_p.D550D NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 587 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CGGGGTCTGCGTCTCCCCTCT 0.577 NISCH 11188 broad.mit.edu 37 3 52525480 52525480 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr3:52525480G>A uc011beg.1 + 21 3927 c.3855G>A c.(3853-3855)CCG>CCA p.P1285P NISCH_uc003ded.3_Silent_p.P1285P|NISCH_uc003dee.3_Silent_p.P774P|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.P34P NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1285 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CGCCCTCGCCGGAGCCTGTTG 0.602 IL17RD 54756 broad.mit.edu 37 3 57132318 57132318 + Silent SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr3:57132318C>T uc003dil.2 - 12 1502 c.1413G>A c.(1411-1413)GCG>GCA p.A471A IL17RD_uc003dik.2_Silent_p.A447A|IL17RD_uc010hna.2_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D precursor 471 SEFIR.|Cytoplasmic (Potential). Golgi membrane|integral to membrane|plasma membrane receptor activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) ACTTGCTGAGCGCCGCGGACG 0.572 CD86 942 broad.mit.edu 37 3 121828238 121828238 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr3:121828238G>A uc003eet.2 + 5 946 c.830G>A c.(829-831)CGC>CAC p.R277H CD86_uc011bjo.1_Missense_Mutation_p.R195H|CD86_uc011bjp.1_Missense_Mutation_p.R165H|CD86_uc003eeu.2_Missense_Mutation_p.R271H NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 277 Cytoplasmic (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AAGCGGCCTCGCAACTCTTAT 0.468 PIK3CA 5290 broad.mit.edu 37 3 178916728 178916728 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr3:178916728G>A uc003fjk.2 + 2 272 c.115G>A c.(115-117)GAG>AAG p.E39K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 39 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E39K(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATGCCTCCGTGAGGCTACATT 0.388 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) SLC4A4 8671 broad.mit.edu 37 4 72399971 72399971 + Missense_Mutation SNP G A A rs150967020 TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:72399971G>A uc003hfy.2 + 18 2425 c.2308G>A c.(2308-2310)GTT>ATT p.V770I SLC4A4_uc010iic.2_Missense_Mutation_p.V770I|SLC4A4_uc010iib.2_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.2_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.3_Missense_Mutation_p.V726I|SLC4A4_uc010iid.2_5'UTR NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 770 Interaction with CA4.|Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) AGGTTGGTTCGTTCCACCGTT 0.423 PPEF2 5470 broad.mit.edu 37 4 76797822 76797822 + Missense_Mutation SNP A G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:76797822A>G uc003hix.2 - 11 1295 c.938T>C c.(937-939)GTT>GCT p.V313A PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 313 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CATGGTGGAAACTATCTAAAC 0.388 MAPK10 5602 broad.mit.edu 37 4 87028499 87028499 + Silent SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:87028499C>T uc003hpq.2 - 4 310 c.243G>A c.(241-243)GCG>GCA p.A81A MAPK10_uc010ikg.2_Silent_p.A43A|MAPK10_uc003hpr.2_Silent_p.A43A|MAPK10_uc003hps.2_Silent_p.A81A|MAPK10_uc003hpt.2_Silent_p.A81A|MAPK10_uc003hpu.2_Silent_p.A81A|MAPK10_uc003hpv.2_5'UTR|MAPK10_uc010ikh.1_RNA|MAPK10_uc003hpo.2_5'UTR|MAPK10_uc011ccw.1_5'UTR|MAPK10_uc003hpp.2_5'UTR NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 81 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CAGCATCATACGCGGCACTGT 0.443 BBS12 166379 broad.mit.edu 37 4 123665161 123665161 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:123665161C>T uc003ieu.2 + 2 2307 c.2114C>T c.(2113-2115)ACG>ATG p.T705M NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 705 cellular protein metabolic process cilium ATP binding ovary(2) 2 CAGGAATTAACGGGCTTTCTA 0.348 Bardet-Biedl_syndrome PLK4 10733 broad.mit.edu 37 4 128807278 128807278 + Silent SNP A T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:128807278A>T uc003ifo.2 + 5 998 c.753A>T c.(751-753)GCA>GCT p.A251A PLK4_uc011cgs.1_Silent_p.A219A|PLK4_uc011cgt.1_Silent_p.A210A NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 251 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GAAATCCAGCAGATCGTTTAA 0.353 NEK1 4750 broad.mit.edu 37 4 170398275 170398275 + Frame_Shift_Del DEL T - - TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr4:170398275delT uc003isb.1 - 24 2842 c.2350delA c.(2350-2352)AGAfs p.R784fs NEK1_uc003isc.1_Frame_Shift_Del_p.R740fs|NEK1_uc003isd.1_Frame_Shift_Del_p.R812fs|NEK1_uc003ise.1_Frame_Shift_Del_p.R768fs|NEK1_uc003isf.1_Frame_Shift_Del_p.R715fs NM_012224 NP_036356 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 784 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(3)|ovary(2)|large_intestine(1) 6 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CTATACATACTTTCAGTTGTA 0.343 ADAMTS12 81792 broad.mit.edu 37 5 33549384 33549384 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr5:33549384G>A uc003jia.1 - 21 4393 c.4230C>T c.(4228-4230)GGC>GGT p.G1410G ADAMTS12_uc010iuq.1_Silent_p.G1325G NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1410 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGGGAGGAATGCCGGCCAGGA 0.612 HNSCC(64;0.19) IL3 3562 broad.mit.edu 37 5 131396547 131396547 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr5:131396547C>T uc003kwe.1 + 1 201 c.148C>T c.(148-150)CCT>TCT p.P50S NM_000588 NP_000579 P08700 IL3_HUMAN interleukin 3 precursor 50 cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|growth factor activity|interleukin-3 receptor binding ovary(2)|central_nervous_system(1) 3 all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105) Amlexanox(DB01025) AAAGCAGCCACCTTTGCCTTT 0.522 FAT2 2196 broad.mit.edu 37 5 150947262 150947262 + Nonsense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr5:150947262G>A uc003lue.3 - 1 1244 c.1231C>T c.(1231-1233)CGA>TGA p.R411* GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.R411* NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 411 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACCCAGTTCGAGCATTAAGT 0.532 BRPF3 27154 broad.mit.edu 37 6 36185728 36185728 + Silent SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr6:36185728C>T uc003olv.3 + 9 3248 c.3024C>T c.(3022-3024)AGC>AGT p.S1008S BRPF3_uc010jwb.2_Silent_p.S738S|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Intron|BRPF3_uc010jwd.2_5'UTR NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1008 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 ACACCGAAAGCGGGTCTGACT 0.512 LGSN 51557 broad.mit.edu 37 6 63990385 63990385 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr6:63990385G>A uc003peh.2 - 4 1105 c.1071C>T c.(1069-1071)TGC>TGT p.C357C LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 357 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) GCGCCATCAGGCAGCTGAGCG 0.498 PPIL6 285755 broad.mit.edu 37 6 109752404 109752404 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr6:109752404C>T uc003ptg.3 - 3 430 c.376G>A c.(376-378)GCA>ACA p.A126T PPIL6_uc010kdo.2_Missense_Mutation_p.A94T|PPIL6_uc010kdp.2_Missense_Mutation_p.A126T NM_173672 NP_775943 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase-like 6 isoform 1 126 protein folding peptidyl-prolyl cis-trans isomerase activity 0 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) TCAGTGAGTGCGTCATAAAGT 0.393 UNC93A 54346 broad.mit.edu 37 6 167704889 167704889 + Translation_Start_Site SNP C A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr6:167704889C>A uc003qvq.2 + 1 87 c.-88C>A c.(-90--86)TACTG>TAATG UNC93A_uc003qvr.2_Translation_Start_Site NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CTTCTTGGTACTGATTGTTTT 0.398 DAGLB 221955 broad.mit.edu 37 7 6476110 6476110 + Missense_Mutation SNP C A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:6476110C>A uc003sqa.2 - 3 472 c.302G>T c.(301-303)CGC>CTC p.R101L DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Missense_Mutation_p.R101L|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 101 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CAGCGCCAGGCGGATGTAAAG 0.522 FAM188B 84182 broad.mit.edu 37 7 30915152 30915152 + Missense_Mutation SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:30915152G>A uc003tbt.2 + 15 1929 c.1852G>A c.(1852-1854)GTT>ATT p.V618I FAM188B_uc010kwe.2_Missense_Mutation_p.V589I|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.V138I NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 618 0 TGTGTCCAACGTTTTCAACGA 0.448 CDC14C 168448 broad.mit.edu 37 7 48964316 48964316 + Silent SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:48964316C>T uc010kyv.1 + 1 160 c.48C>T c.(46-48)GAC>GAT p.D16D NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 ACCCCCAGGACGACGTGTACG 0.577 EGFR 1956 broad.mit.edu 37 7 55259469 55259469 + Missense_Mutation SNP G C C rs146795390 TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:55259469G>C uc003tqk.2 + 21 2773 c.2527G>C c.(2527-2529)GTA>CTA p.V843L EGFR_uc010kzg.1_Missense_Mutation_p.V798L|EGFR_uc011kco.1_Missense_Mutation_p.V790L|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 843 Cytoplasmic (Potential).|Protein kinase. 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.V843I(6) 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) AGCCAGGAACGTACTGGTGAA 0.537 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PSPH 5723 broad.mit.edu 37 7 56085002 56085002 + Missense_Mutation SNP C T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:56085002C>T uc003trg.2 - 5 709 c.346G>A c.(346-348)GTA>ATA p.V116I PSPH_uc003trh.2_Missense_Mutation_p.V116I|PSPH_uc003tri.2_Missense_Mutation_p.V116I|PSPH_uc003trj.2_Missense_Mutation_p.V145I NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 116 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ACATGCTCTACAATACTCCTA 0.393 SERPINE1 5054 broad.mit.edu 37 7 100771685 100771685 + Missense_Mutation SNP C G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:100771685C>G uc003uxt.2 + 2 159 c.11C>G c.(10-12)TCT>TGT p.S4C SERPINE1_uc011kkj.1_Missense_Mutation_p.S4C NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 4 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) ATGCAGATGTCTCCAGCCCTC 0.622 OR2A1 346528 broad.mit.edu 37 7 144015519 144015519 + Missense_Mutation SNP T G G TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:144015519T>G uc011kud.1 + 1 284 c.284T>G c.(283-285)TTT>TGT p.F95C OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) ACGCAGACCTTTCTCTGTTTG 0.572 SSPO 23145 broad.mit.edu 37 7 149493793 149493793 + Silent SNP G A A TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:149493793G>A uc010lpk.2 + 46 6789 c.6789G>A c.(6787-6789)TCG>TCA p.S2263S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2263 LDL-receptor class A 8. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGGATGGCTCGGATGAGGAGG 0.652 UBE3C 9690 broad.mit.edu 37 7 157046788 157046788 + Silent SNP T C C TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr7:157046788T>C uc010lqs.2 + 20 3147 c.2835T>C c.(2833-2835)AAT>AAC p.N945N UBE3C_uc003wni.3_Silent_p.N308N NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 945 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GCCTTGCCAATGTCGTCAGCC 0.562 LOC442421 442421 broad.mit.edu 37 9 66499790 66499790 + Missense_Mutation SNP G T T TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr9:66499790G>T uc004aee.1 + 1 600 c.600G>T c.(598-600)AAG>AAT p.K200N LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 TGCTGTGCAAGTCGCGCAAGG 0.597 GCNT1 2650 broad.mit.edu 37 9 79118132 79118132 + Nonsense_Mutation SNP G T T rs656106 TCGA-06-5413-01A-01D-1696-08 TCGA-06-5413-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 72c13e51-0dd2-4e96-af37-aa471407436f 2c0bbd3a-7384-4957-9516-5d34f8280208 g.chr9:79118132G>T uc010mpf.2 + 3 1176 c.835G>T c.(835-837)GAA>TAA p.E279* GCNT1_uc010mpg.2_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.2_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.3_Nonsense_Mutation_p.E279* NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 279 Lumenal (Potential).|Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 TCCTCCACTCGAAACACCTCT 0.463