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 KAZ 23254 broad.mit.edu 37 1 15428142 15428142 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:15428142G>A uc001avm.3 + 11 1932 c.1651G>A c.(1651-1653)GAT>AAT p.D551N KAZ_uc001avs.3_5'UTR NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 551 SAM 2. keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 CCACCTGGTTGATGGGCGGAT 0.577 HSPG2 3339 broad.mit.edu 37 1 22206668 22206668 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:22206668C>T uc001bfj.2 - 17 2315 c.2275G>A c.(2275-2277)GGC>AGC p.G759S HSPG2_uc009vqd.2_Missense_Mutation_p.G760S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 759 Laminin EGF-like 1; second part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GAGCAGGTGCCCAGGTAGGGC 0.577 GBP5 115362 broad.mit.edu 37 1 89729595 89729595 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:89729595G>A uc001dnc.2 - 9 1723 c.1186C>T c.(1186-1188)CGG>TGG p.R396W GBP5_uc001dnd.2_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 396 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) TCCAGGTTCCGTTTACAAATG 0.378 AMY2B 280 broad.mit.edu 37 1 104122114 104122114 + Missense_Mutation SNP A C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:104122114A>C uc001duq.2 + 12 2144 c.1528A>C c.(1528-1530)AAA>CAA p.K510Q AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 510 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGCTGAATCtaaattataaaa 0.284 FCRL3 115352 broad.mit.edu 37 1 157667597 157667597 + Silent SNP T C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:157667597T>C uc001frb.2 - 5 703 c.411A>G c.(409-411)GGA>GGG p.G137G FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.G137G|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Silent_p.G137G NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 137 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) GAAGCTGTTTTCCATCCTTGT 0.363 ZNF692 55657 broad.mit.edu 37 1 249148230 249148230 + Missense_Mutation SNP G T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr1:249148230G>T uc001ifc.1 - 10 1226 c.1059C>A c.(1057-1059)CAC>CAA p.H353Q ZNF692_uc001iez.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifa.1_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.1_Missense_Mutation_p.H149Q|ZNF692_uc001ifd.1_Missense_Mutation_p.H352Q|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.H308Q|ZNF692_uc010pzr.1_Missense_Mutation_p.H358Q NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 353 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCTGGTGGATGTGCTGGTACT 0.512 COL17A1 1308 broad.mit.edu 37 10 105823552 105823552 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr10:105823552G>A uc001kxr.2 - 11 960 c.791C>T c.(790-792)GCG>GTG p.A264V COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 264 Cytoplasmic (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGAGCAGGACGCCATGTTGTT 0.517 OR8H2 390151 broad.mit.edu 37 11 55873034 55873034 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr11:55873034C>T uc010riy.1 + 1 516 c.516C>T c.(514-516)AAC>AAT p.N172N NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) ACGACTCAAACGTAATTCATC 0.428 HNSCC(53;0.14) SUV420H1 51111 broad.mit.edu 37 11 67941367 67941370 + Frame_Shift_Del DEL AAAT - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr11:67941367_67941370delAAAT uc001onm.1 - 6 810_813 c.554_557delATTT c.(553-558)TATTTGfs p.Y185fs SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc001onp.2_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs|SUV420H1_uc001onq.2_Frame_Shift_Del_p.Y185fs NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 185_186 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 AAACATTCGCAAATAAATAAATAC 0.319 ADAMTS20 80070 broad.mit.edu 37 12 43770043 43770043 + Missense_Mutation SNP A T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr12:43770043A>T uc010skx.1 - 34 5216 c.5216T>A c.(5215-5217)ATA>AAA p.I1739K NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1739 GON. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAATACCTTTATTATTCTTCC 0.274 NCKAP1L 3071 broad.mit.edu 37 12 54913072 54913072 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr12:54913072C>T uc001sgc.3 + 16 1660 c.1581C>T c.(1579-1581)TCC>TCT p.S527S NCKAP1L_uc010sox.1_Silent_p.S69S|NCKAP1L_uc010soy.1_Silent_p.S477S NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 527 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGCTGGACTCCGTAGAAAAAT 0.438 PPFIA2 8499 broad.mit.edu 37 12 81688794 81688794 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr12:81688794C>T uc001szo.1 - 24 2906 c.2745G>A c.(2743-2745)GCG>GCA p.A915A PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 841 ovary(3)|lung(2)|pancreas(1) 6 CCACGTACCACGCAGGCATTC 0.353 MYO1H 283446 broad.mit.edu 37 12 109843786 109843786 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr12:109843786C>T uc010sxn.1 + 7 861 c.861C>T c.(859-861)GAC>GAT p.D287D NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 TTGAAGAAGACGACCAAGGCT 0.498 C12orf51 283450 broad.mit.edu 37 12 112703783 112703783 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr12:112703783C>T uc009zwc.2 - 8 1119 c.1101G>A c.(1099-1101)GAG>GAA p.E367E C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CACTGTTTCTCTCTCCTAACA 0.418 FAM10A4 145165 broad.mit.edu 37 13 50746904 50746904 + Missense_Mutation SNP T C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr13:50746904T>C uc001vej.2 + 1 751 c.680T>C c.(679-681)ATT>ACT p.I227T DLEU1_uc010adl.1_Intron|DLEU1_uc001vee.1_Intron|DLEU1_uc010adm.1_Intron|DLEU1_uc010adn.1_Intron|DLEU1_uc001vef.1_Intron|DLEU1_uc001veg.1_Intron|DLEU1_uc010tgn.1_Intron|DLEU1_uc001vei.1_Intron|DLEU1_uc010ado.1_Intron|DLEU1_uc010adp.1_Intron NR_002183 SubName: Full=ST13 protein; 0 GCACAGAAAATTGCAGAACAT 0.428 ATP8B4 79895 broad.mit.edu 37 15 50254197 50254197 + Missense_Mutation SNP C A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr15:50254197C>A uc001zxu.2 - 14 1406 c.1264G>T c.(1264-1266)GAT>TAT p.D422Y ATP8B4_uc010ber.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 422 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GTCTTCTGATCCAGGTCATCA 0.264 ITFG3 83986 broad.mit.edu 37 16 315011 315012 + Frame_Shift_Del DEL GT - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr16:315011_315012delGT uc002cgf.2 + 13 1844_1845 c.1649_1650delGT c.(1648-1650)AGTfs p.S550fs ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Frame_Shift_Del_p.S550fs NM_032039 NP_114428 Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 550 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) CGGTACCAGAGTGAGGCGTAGA 0.649 UMOD 7369 broad.mit.edu 37 16 20357449 20357449 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr16:20357449G>A uc002dgz.2 - 5 1310 c.1181C>T c.(1180-1182)ACG>ATG p.T394M UMOD_uc002dha.2_Missense_Mutation_p.T394M|UMOD_uc002dhb.2_Missense_Mutation_p.T427M NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 394 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 AGGACGTACCGTCAACACTGT 0.398 NOD2 64127 broad.mit.edu 37 16 50731207 50731209 + In_Frame_Del DEL TCC - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr16:50731207_50731209delTCC uc002egm.1 + 1 158_160 c.53_55delTCC c.(52-57)GTCCTC>GTC p.L20del NOD2_uc010cbj.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 20 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) AGAGCAAGTGTCCTCCTCGGACA 0.601 ATP2C2 9914 broad.mit.edu 37 16 84472802 84472802 + Silent SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr16:84472802G>A uc002fhx.2 + 12 1106 c.1017G>A c.(1015-1017)CTG>CTA p.L339L ATP2C2_uc010chj.2_Silent_p.L339L|ATP2C2_uc002fhy.2_Silent_p.L356L|ATP2C2_uc002fhz.2_Silent_p.L188L NM_014861 NP_055676 O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 339 Helical; Name=5; (Potential). ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1) 2 CAGAGGGTCTGCCCATCGTCG 0.572 Unknown 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G T T rs111245273 by1000genomes TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr17:21730916G>T uc002gyy.3 + 2 343 c.218G>T c.(217-219)CGG>CTG p.R73L SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; GTCCTGCGTCGGAGAGGTGGT 0.552 FCGBP 8857 broad.mit.edu 37 19 40395919 40395919 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr19:40395919G>A uc002omp.3 - 15 7486 c.7478C>T c.(7477-7479)GCC>GTC p.A2493V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 2493 VWFD 6. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAGGACGGCAAACCGATG 0.627 RAB4B 53916 broad.mit.edu 37 19 41292794 41292794 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr19:41292794G>A uc002opd.1 + 7 678 c.568G>A c.(568-570)GGG>AGG p.G190R RAB4B_uc002opc.1_RNA|RAB4B_uc002ope.1_RNA|EGLN2_uc010ehd.2_5'UTR|RAB4B_uc002opf.1_Missense_Mutation_p.G216R NM_016154 NP_057238 P61018 RAB4B_HUMAN ras-related GTP-binding protein 4b 190 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport intracellular|plasma membrane GTP binding|GTPase activity skin(1) 1 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CATTCAGTACGGGGATGCGTC 0.682 AXL 558 broad.mit.edu 37 19 41726597 41726597 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr19:41726597C>T uc010ehj.2 + 2 332 c.142C>T c.(142-144)CGG>TGG p.R48W CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.2_Missense_Mutation_p.R48W NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 48 Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 CACAGGTGCCCGGGGACTCAC 0.622 ERCC1 2067 broad.mit.edu 37 19 45912970 45912970 + Missense_Mutation SNP A G G TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr19:45912970A>G uc002pbs.1 - 10 1003 c.857T>C c.(856-858)TTT>TCT p.F286S CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.1_Missense_Mutation_p.F262S|ERCC1_uc002pbu.1_Missense_Mutation_p.F214S NM_001983 NP_001974 P07992 ERCC1_HUMAN excision repair cross-complementing 1 isofrom 2 286 mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding ovary(2) 2 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0247) CAGGACATCAAACAGCCTCCG 0.502 NER NCR1 9437 broad.mit.edu 37 19 55420770 55420770 + Missense_Mutation SNP G C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr19:55420770G>C uc002qib.2 + 4 560 c.522G>C c.(520-522)GAG>GAC p.E174D NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 174 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) TCCAGGCGGAGTTCCCCCTGG 0.572 ALLC 55821 broad.mit.edu 37 2 3743415 3743415 + Missense_Mutation SNP G T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr2:3743415G>T uc010ewt.2 + 8 781 c.620G>T c.(619-621)TGT>TTT p.C207F ALLC_uc002qyf.2_5'UTR NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 226 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGGGGTGTCTGTGTAGGATTT 0.448 HNSCC(21;0.051) TMEM182 130827 broad.mit.edu 37 2 103379127 103379133 + Frame_Shift_Del DEL ATTTGGA - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr2:103379127_103379133delATTTGGA uc010fjb.2 + 2 401_407 c.214_220delATTTGGA c.(214-222)ATTTGGAAGfs p.I72fs TMEM182_uc002tcc.3_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.3_5'UTR NM_144632 NP_653233 Q6ZP80 TM182_HUMAN transmembrane protein 182 precursor 72_74 Extracellular (Potential). integral to membrane 0 TGACTCCAATATTTGGAAGTTCTGGTA 0.362 ITGB6 3694 broad.mit.edu 37 2 161025770 161025770 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr2:161025770C>T uc002ubh.2 - 7 986 c.970G>A c.(970-972)GTG>ATG p.V324M ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 324 Extracellular (Potential).|VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity ovary(1)|lung(1)|skin(1) 3 ATCAATAACACGTTGTTTTGT 0.294 DNAH7 56171 broad.mit.edu 37 2 196865488 196865488 + Silent SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr2:196865488G>A uc002utj.3 - 12 1394 c.1293C>T c.(1291-1293)GAC>GAT p.D431D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 431 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TAATCATGACGTCATAAACAT 0.338 IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr2:227660808_227660810delGCT uc002voh.3 - 1 2697_2699 c.2645_2647delAGC c.(2644-2649)CAGCCC>CCC p.Q882del NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.557 CHGB 1114 broad.mit.edu 37 20 5903131 5903131 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr20:5903131G>A uc002wmg.2 + 4 647 c.341G>A c.(340-342)GGC>GAC p.G114D CHGB_uc010zqz.1_Intron NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 114 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GACATCCAAGGCCCAACAAAG 0.607 LSM14B 149986 broad.mit.edu 37 20 60697790 60697790 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr20:60697790G>A uc010gjy.1 + 1 274 c.68G>A c.(67-69)CGC>CAC p.R23H LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc002ybv.2_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 23 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GCGCAGATCCGCTACGAGGGC 0.706 KRTAP19-1 337882 broad.mit.edu 37 21 31852408 31852408 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr21:31852408G>A uc011acx.1 - 1 229 c.229C>T c.(229-231)CGC>TGC p.R77C NM_181607 NP_853638 Q8IUB9 KR191_HUMAN keratin associated protein 19-1 77 26 X 2 AA repeats of G-[YCGS]. intermediate filament 0 TACGATGGGCGGCAGCAGCCA 0.488 KRTAP20-2 337976 broad.mit.edu 37 21 32007726 32007726 + Nonsense_Mutation SNP T A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr21:32007726T>A uc011adg.1 + 1 144 c.144T>A c.(142-144)TAT>TAA p.Y48* NM_181616 NP_853647 Q3LI61 KR202_HUMAN keratin associated protein 20-2 48 intermediate filament central_nervous_system(1) 1 GCTATGGATATGGCTGCTGCC 0.557 BCL2L13 23786 broad.mit.edu 37 22 18178948 18178948 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr22:18178948C>T uc002zmw.2 + 5 646 c.428C>T c.(427-429)ACC>ATC p.T143I BCL2L13_uc002zmu.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmv.2_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_Intron NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 143 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) ACACTGGAGACCACAGTTCAT 0.383 TMPRSS6 164656 broad.mit.edu 37 22 37482392 37482392 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr22:37482392C>T uc003aqs.1 - 8 1045 c.931G>A c.(931-933)GTC>ATC p.V311I TMPRSS6_uc003aqt.1_Missense_Mutation_p.V302I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V302I NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 311 CUB 1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 TTCTTCCAGACGACCGCCATG 0.667 TBC1D22A 25771 broad.mit.edu 37 22 47189513 47189513 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr22:47189513G>A uc003bib.2 + 3 370 c.235G>A c.(235-237)GAT>AAT p.D79N TBC1D22A_uc010haf.2_Missense_Mutation_p.D49N|TBC1D22A_uc003bic.2_Missense_Mutation_p.D79N|TBC1D22A_uc003bie.2_Missense_Mutation_p.D60N|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.D32N NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 79 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGAGGACGACGATGAGCTCCT 0.647 FBLN2 2199 broad.mit.edu 37 3 13672223 13672223 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr3:13672223G>A uc011avb.1 + 14 2977 c.2852G>A c.(2851-2853)CGC>CAC p.R951H FBLN2_uc011auz.1_Missense_Mutation_p.R977H|FBLN2_uc011ava.1_Missense_Mutation_p.R998H|FBLN2_uc011avc.1_Missense_Mutation_p.R998H NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 951 EGF-like 8; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GAGGCCCAGCGCTGCAGCCAG 0.607 ATP11B 23200 broad.mit.edu 37 3 182585181 182585181 + Missense_Mutation SNP T C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr3:182585181T>C uc003flb.2 + 15 1894 c.1637T>C c.(1636-1638)ATT>ACT p.I546T ATP11B_uc003flc.2_Missense_Mutation_p.I130T NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 546 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATTGTGTTTATTGGCAATTCT 0.294 CTBP1 1487 broad.mit.edu 37 4 1206064 1206064 + Silent SNP G C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr4:1206064G>C uc003gcv.1 - 9 1452 c.1287C>G c.(1285-1287)CCC>CCG p.P429P uc003gcs.1_RNA|CTBP1_uc003gct.1_Silent_p.P410P|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcw.2_Silent_p.P104P NM_001328 NP_001319 Q13363 CTBP1_HUMAN C-terminal binding protein 1 isoform 1 429 interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation cytoplasm|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.00818) Colorectal(103;0.2) TATCCGCCTCGGGCTTGACGG 0.692 CLNK 116449 broad.mit.edu 37 4 10515205 10515205 + Missense_Mutation SNP C A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr4:10515205C>A uc003gmo.3 - 16 926 c.789G>T c.(787-789)ATG>ATT p.M263I NM_052964 NP_443196 Q7Z7G1 CLNK_HUMAN mast cell immunoreceptor signal transducer 263 immune response|intracellular signal transduction intracellular SH3/SH2 adaptor activity ovary(1) 1 AACAGGGCTGCATGCCTCCTC 0.502 EEF1A1P9 441032 broad.mit.edu 37 4 106406491 106406491 + Frame_Shift_Del DEL A - - TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr4:106406491delA uc003hxt.1 + 1 629 c.499delA c.(499-501)AAAfs p.K167fs NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 CAAGGGATGGAAAGTCACCCG 0.532 DCHS2 54798 broad.mit.edu 37 4 155252747 155252747 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr4:155252747C>T uc003inw.2 - 10 2353 c.2353G>A c.(2353-2355)GAA>AAA p.E785K DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 785 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) tctcctaattcacagaaCAGA 0.219 CTNND2 1501 broad.mit.edu 37 5 11022883 11022883 + Missense_Mutation SNP A C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr5:11022883A>C uc003jfa.1 - 17 3142 c.2997T>G c.(2995-2997)GAT>GAG p.D999E CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 999 ARM 9. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TAACTTACTTATCTCCTTTGC 0.488 PCDHA8 56140 broad.mit.edu 37 5 140222517 140222517 + Silent SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr5:140222517G>A uc003lhs.2 + 1 1611 c.1611G>A c.(1609-1611)GCG>GCA p.A537A 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_uc003lhr.1_Silent_p.A537A NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCGG 0.667 DOCK2 1794 broad.mit.edu 37 5 169122848 169122848 + Missense_Mutation SNP G T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr5:169122848G>T uc003maf.2 + 10 965 c.885G>T c.(883-885)TTG>TTT p.L295F DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 295 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) AAATTTACTTGATTTGTCAAA 0.463 HCRTR2 3062 broad.mit.edu 37 6 55142306 55142306 + Silent SNP A G G TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr6:55142306A>G uc003pcl.2 + 5 1206 c.891A>G c.(889-891)CGA>CGG p.R297R HCRTR2_uc010jzv.2_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 297 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGCAGATCCGAGCCAGAAGGA 0.493 GHRHR 2692 broad.mit.edu 37 7 31016925 31016925 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:31016925C>T uc003tbx.2 + 12 1182 c.1134C>T c.(1132-1134)TTC>TTT p.F378F GHRHR_uc003tby.2_Silent_p.F314F|GHRHR_uc003tbz.2_Missense_Mutation_p.P145S NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 378 Helical; Name=7; (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) TCTACTGCTTCCTCAACCAAG 0.552 EGFR 1956 broad.mit.edu 37 7 55221781 55221781 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:55221781C>T uc003tqk.2 + 7 1071 c.825C>T c.(823-825)TAC>TAT p.Y275Y EGFR_uc003tqh.2_Silent_p.Y275Y|EGFR_uc003tqi.2_Silent_p.Y275Y|EGFR_uc003tqj.2_Silent_p.Y275Y|EGFR_uc010kzg.1_Silent_p.Y230Y|EGFR_uc011kco.1_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 275 Approximate.|Extracellular (Potential). Y->A: Strongly reduced autophosphorylation and activation of down-stream kinases; when associated with A-309. 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) 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) CCACCACGTACCAGATGGATG 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221796 55221796 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:55221796C>T uc003tqk.2 + 7 1086 c.840C>T c.(838-840)AAC>AAT p.N280N EGFR_uc003tqh.2_Silent_p.N280N|EGFR_uc003tqi.2_Silent_p.N280N|EGFR_uc003tqj.2_Silent_p.N280N|EGFR_uc010kzg.1_Silent_p.N235N|EGFR_uc011kco.1_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 280 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) 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) TGGATGTGAACCCCGAGGGCA 0.587 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55221821 55221822 + Missense_Mutation DNP GC AT AT rs149840192 TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:55221821_55221822GC>AT uc003tqk.2 + 7 1111_1112 c.865_866GC>AT c.(865-867)GCC>ATC p.A289I EGFR_uc003tqh.2_Missense_Mutation_p.A289I|EGFR_uc003tqi.2_Missense_Mutation_p.A289I|EGFR_uc003tqj.2_Missense_Mutation_p.A289I|EGFR_uc010kzg.1_Missense_Mutation_p.A244I|EGFR_uc011kco.1_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 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.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) 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) CAGCTTTGGTGCCACCTGCGTG 0.589 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) SEMA3E 9723 broad.mit.edu 37 7 82997221 82997221 + Missense_Mutation SNP A C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:82997221A>C uc003uhy.1 - 17 2475 c.2009T>G c.(2008-2010)TTG>TGG p.L670W NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 670 axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) CACTACCTCCAAGGTGATTTT 0.468 ZAN 7455 broad.mit.edu 37 7 100350611 100350611 + Silent SNP A G G TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:100350611A>G uc003uwj.2 + 14 3048 c.2883A>G c.(2881-2883)AAA>AAG p.K961K ZAN_uc003uwk.2_Silent_p.K961K|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 961 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCACAGAAAAACCCACCATCT 0.512 LAMB4 22798 broad.mit.edu 37 7 107706946 107706946 + Missense_Mutation SNP C T T rs148837121 TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:107706946C>T uc010ljo.1 - 20 2630 c.2546G>A c.(2545-2547)CGC>CAC p.R849H LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 849 Laminin EGF-like 7. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGCCAGGCAGCGATCACAGCG 0.532 MLL3 58508 broad.mit.edu 37 7 151892993 151892993 + Silent SNP T C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr7:151892993T>C uc003wla.2 - 28 4596 c.4377A>G c.(4375-4377)TCA>TCG p.S1459S MLL3_uc003wkz.2_Silent_p.S520S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1459 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CATATATACCTGAATGATCAA 0.363 N medulloblastoma PREX2 80243 broad.mit.edu 37 8 69104577 69104577 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr8:69104577G>A uc003xxv.1 + 37 4448 c.4421G>A c.(4420-4422)AGG>AAG p.R1474K NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1474 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CAGCTAATGAGGCCTCTCAAC 0.413 LPAR1 1902 broad.mit.edu 37 9 113704320 113704320 + Silent SNP A C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr9:113704320A>C uc004bfa.2 - 4 429 c.174T>G c.(172-174)ACT>ACG p.T58T LPAR1_uc011lwm.1_Silent_p.T59T|LPAR1_uc004bfb.2_Silent_p.T58T|LPAR1_uc004bfc.2_Silent_p.T58T|LPAR1_uc011lwn.1_Silent_p.T40T|LPAR1_uc011lwo.1_Silent_p.T59T|LPAR1_uc010mub.2_Silent_p.T58T NM_057159 NP_476500 Q92633 LPAR1_HUMAN lysophosphatidic acid receptor 1 58 Helical; Name=1; (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane ovary(2) 2 AGATACAAACAGTGATTCCAA 0.438 TRAF1 7185 broad.mit.edu 37 9 123675735 123675735 + Silent SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr9:123675735C>T uc004bku.1 - 5 1148 c.576G>A c.(574-576)GGG>GGA p.G192G TRAF1_uc011lyg.1_Silent_p.G70G|TRAF1_uc010mvl.1_Silent_p.G192G NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 192 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 CACGCAGCTTCCCCTCCAGCT 0.612 GOLGA1 2800 broad.mit.edu 37 9 127670739 127670739 + Missense_Mutation SNP C T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr9:127670739C>T uc004bpc.2 - 12 1324 c.982G>A c.(982-984)GAG>AAG p.E328K GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 328 Potential. Golgi cisterna membrane ovary(1) 1 AAATTCTGCTCAGCAAGTGTT 0.343 KCNT1 57582 broad.mit.edu 37 9 138667205 138667205 + Missense_Mutation SNP A C C TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chr9:138667205A>C uc011mdq.1 + 20 2367 c.2293A>C c.(2293-2295)ACC>CCC p.T765P KCNT1_uc011mdr.1_Missense_Mutation_p.T592P|KCNT1_uc010nbf.2_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 765 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CAGCTCCCCAACCCTGTGCCA 0.662 SCML2 10389 broad.mit.edu 37 X 18275064 18275064 + Missense_Mutation SNP G A A TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chrX:18275064G>A uc004cyl.2 - 11 1517 c.1360C>T c.(1360-1362)CAC>TAC p.H454Y SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 454 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TGCAGACTGTGGCAGAAGTTC 0.468 KLHL13 90293 broad.mit.edu 37 X 117054239 117054239 + Missense_Mutation SNP A T T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 07869e29-9ced-4be5-9a6c-8fd3c29ae487 054e6a05-b5f5-4c0f-bd7d-72a04819a7ab g.chrX:117054239A>T uc004eql.2 - 3 397 c.335T>A c.(334-336)ATG>AAG p.M112K KLHL13_uc004eqk.2_Missense_Mutation_p.M61K|KLHL13_uc011mtn.1_5'UTR|KLHL13_uc011mto.1_Missense_Mutation_p.M106K|KLHL13_uc011mtp.1_Missense_Mutation_p.M114K|KLHL13_uc004eqm.2_Missense_Mutation_p.M61K|KLHL13_uc011mtq.1_Missense_Mutation_p.M96K NM_033495 NP_277030 Q9P2N7 KLH13_HUMAN kelch-like 13 112 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex kidney(1)|skin(1) 2 AGCAGATGCCATCATGACTCT 0.408