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 UBR4 23352 broad.mit.edu 37 1 19451182 19451182 + Silent SNP A G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr1:19451182A>G uc001bbi.2 - 65 9445 c.9441T>C c.(9439-9441)GGT>GGC p.G3147G UBR4_uc001bbk.1_Silent_p.G794G NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3147 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCAGCATGACCCTGGGAGA 0.413 SFN 2810 broad.mit.edu 37 1 27190037 27190037 + Missense_Mutation SNP G T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr1:27190037G>T uc001bnc.1 + 1 405 c.334G>T c.(334-336)GGG>TGG p.G112W uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 112 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) CAAGGAGGCCGGGGACGCCGA 0.637 BCAR3 8412 broad.mit.edu 37 1 94032964 94032964 + Missense_Mutation SNP A G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr1:94032964A>G uc001dpz.2 - 11 2446 c.2171T>C c.(2170-2172)TTT>TCT p.F724S BCAR3_uc001dqa.2_Missense_Mutation_p.F724S|BCAR3_uc001dqb.2_Missense_Mutation_p.F724S|BCAR3_uc001dpx.3_Missense_Mutation_p.F400S|BCAR3_uc001dpy.2_Missense_Mutation_p.F633S NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 724 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GGTTCCTTCAAAAGTCACAGC 0.502 IRF6 3664 broad.mit.edu 37 1 209961847 209961847 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr1:209961847C>T uc001hhq.1 - 9 1585 c.1322G>A c.(1321-1323)CGC>CAC p.R441H IRF6_uc010psm.1_Missense_Mutation_p.R346H|IRF6_uc009xct.1_Missense_Mutation_p.R441H NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 441 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TTGAAGGATGCGGTACAGCTG 0.557 HNSCC(57;0.16) CDH23 64072 broad.mit.edu 37 10 73375274 73375274 + Missense_Mutation SNP C G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr10:73375274C>G uc001jrx.3 + 10 1223 c.846C>G c.(844-846)AGC>AGG p.S282R CDH23_uc001jrw.3_Missense_Mutation_p.S282R|CDH23_uc009xql.2_Missense_Mutation_p.S327R NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 282 Cadherin 3.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ATACCAACAGCATCTTTGCCC 0.607 DHX32 55760 broad.mit.edu 37 10 127541113 127541113 + Silent SNP T C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr10:127541113T>C uc001ljf.1 - 5 1682 c.1191A>G c.(1189-1191)TCA>TCG p.S397S BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Silent_p.S21S|DHX32_uc001ljg.1_Silent_p.S397S|DHX32_uc009yam.1_Silent_p.S152S NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 397 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CAGCACTACCTGAAGAAGATG 0.433 PNPLA2 57104 broad.mit.edu 37 11 824015 824015 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr11:824015G>A uc001lrt.2 + 8 1139 c.937G>A c.(937-939)GTG>ATG p.V313M PNPLA2_uc009ycl.2_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank NM_020376 NP_065109 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 313 Lumenal (Potential). negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGGCCTGCGTGGAGCCCAC 0.637 OR5D16 390144 broad.mit.edu 37 11 55606777 55606777 + Missense_Mutation SNP T C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr11:55606777T>C uc010rio.1 + 1 550 c.550T>C c.(550-552)TCC>CCC p.S184P NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CTGTGAGTTATCCTCCCTGAT 0.418 UVRAG 7405 broad.mit.edu 37 11 75852116 75852116 + Nonsense_Mutation SNP G T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr11:75852116G>T uc001oxc.2 + 15 2000 c.1759G>T c.(1759-1761)GAA>TAA p.E587* UVRAG_uc010rrw.1_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.1_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.1_Nonsense_Mutation_p.E143* NM_003369 NP_003360 Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated 587 DNA repair|positive regulation of autophagy early endosome|late endosome|lysosome protein binding skin(4)|lung(2) 6 AGAACAAGGAGAAGCCCTCTC 0.577 RACGAP1 29127 broad.mit.edu 37 12 50387942 50387942 + Silent SNP G C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr12:50387942G>C uc001rvt.2 - 14 1621 c.1311C>G c.(1309-1311)CGC>CGG p.R437R RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 437 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 CTCTGTTAAGGCGAAAGGTCA 0.318 LRP1 4035 broad.mit.edu 37 12 57571370 57571370 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr12:57571370G>A uc001snd.2 + 26 4823 c.4357G>A c.(4357-4359)GCC>ACC p.A1453T NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1453 Extracellular (Potential).|LDL-receptor class B 11. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTGGATTGACGCCAGGTCAGC 0.657 CLIP1 6249 broad.mit.edu 37 12 122839754 122839754 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr12:122839754G>A uc001ucg.1 - 5 1217 c.1111C>T c.(1111-1113)CGG>TGG p.R371W CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.1_Intron NM_002956 NP_002947 P30622 CLIP1_HUMAN restin isoform a 371 Potential. mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding ovary(2)|breast(1) 3 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TCCAGATCCCGTTCCGCCAGC 0.632 TMEM132D 121256 broad.mit.edu 37 12 129694161 129694161 + Silent SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr12:129694161G>A uc009zyl.1 - 5 1675 c.1347C>T c.(1345-1347)GCC>GCT p.A449A NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 449 Extracellular (Potential). integral to membrane p.A449V(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCACCGGGACGGCCACCGTCT 0.572 OR6S1 341799 broad.mit.edu 37 14 21109809 21109809 + Silent SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr14:21109809G>A uc001vxv.1 - 1 42 c.42C>T c.(40-42)TTC>TTT p.F14F NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CTGCCAGGACGAACTCTGTTG 0.453 VPS18 57617 broad.mit.edu 37 15 41191139 41191139 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr15:41191139G>A uc001zne.2 + 3 607 c.268G>A c.(268-270)GTG>ATG p.V90M NM_020857 NP_065908 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 90 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding ovary(2)|large_intestine(1) 3 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) GCCCAACCACGTGGAGCTGGG 0.448 SLC30A4 7782 broad.mit.edu 37 15 45814527 45814527 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr15:45814527C>T uc001zvj.2 - 2 338 c.26G>A c.(25-27)CGC>CAC p.R9H C15orf21_uc010beg.1_Intron|C15orf21_uc010beh.1_Intron|C15orf21_uc010bei.1_Intron|C15orf21_uc010bej.1_Intron|C15orf21_uc001zvm.1_Intron|C15orf21_uc001zvn.1_Intron NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 9 Cytoplasmic (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AGATTTGAGGCGCTTCCACGC 0.652 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + Missense_Mutation SNP C G G rs56290535 by1000genomes TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr15:78208916C>G uc010bky.2 - 14 1581 c.817G>C c.(817-819)GAA>CAA p.E273Q LOC645752_uc010umq.1_5'Flank|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 TCCAGATGTTCTCCTCCATCT 0.627 SHCBP1 79801 broad.mit.edu 37 16 46615749 46615749 + Silent SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr16:46615749C>T uc002eec.3 - 13 1951 c.1911G>A c.(1909-1911)GGG>GGA p.G637G NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 637 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CTTGCGTGATCCCCAGTTCAC 0.433 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C T T rs55863639 TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr17:7579312C>T uc002gim.2 - 4 569 c.375G>A c.(373-375)ACG>ACA p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAACTGACCGTGCAAGTCA 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH2 4620 broad.mit.edu 37 17 10432722 10432722 + Nonsense_Mutation SNP A T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr17:10432722A>T uc010coi.2 - 25 3322 c.3194T>A c.(3193-3195)TTG>TAG p.L1065* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1065 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GGCCAACTTCAAGTCACCCTC 0.373 NR1D1 9572 broad.mit.edu 37 17 38252312 38252312 + Silent SNP T C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr17:38252312T>C uc002htz.1 - 5 1259 c.633A>G c.(631-633)CGA>CGG p.R211R NR1D1_uc010cwq.1_RNA|NR1D1_uc010cwr.1_Intron NM_021724 NP_068370 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 211 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding skin(1) 1 Colorectal(19;0.000442) GCTGCTTCTCTCGTTTGGGGA 0.562 KRT17 3872 broad.mit.edu 37 17 39780481 39780481 + Missense_Mutation SNP C T T rs28928897 TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr17:39780481C>T uc002hxh.2 - 1 402 c.281G>A c.(280-282)CGC>CAC p.R94H JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Missense_Mutation_p.R94H NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 94 Coil 1A.|Rod. R -> H (in SM).|R -> C (in PC2 and SM).|Missing (in PC2).|R -> P (in PC2). Missing (in Ref. 5; AAH72018). epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) GGAGGCCAGGCGGTCATTGAG 0.627 Steatocystoma_Multiplex HELZ 9931 broad.mit.edu 37 17 65157047 65157047 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr17:65157047C>T uc010wqk.1 - 16 2228 c.2041G>A c.(2041-2043)GCT>ACT p.A681T HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.A681T NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGTTTGACAGCCTGAGCTAGA 0.493 EPB41L3 23136 broad.mit.edu 37 18 5434010 5434010 + Missense_Mutation SNP T C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr18:5434010T>C uc002kmt.1 - 7 802 c.716A>G c.(715-717)GAC>GGC p.D239G EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 239 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 TGGGTCATAGTCTCCGAGCTC 0.522 C19orf28 126321 broad.mit.edu 37 19 3547922 3547922 + Missense_Mutation SNP G C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr19:3547922G>C uc002lxz.2 - 4 931 c.761C>G c.(760-762)ACC>AGC p.T254S C19orf28_uc002lxw.2_Missense_Mutation_p.T254S|C19orf28_uc002lxx.2_Missense_Mutation_p.T254S|C19orf28_uc002lxy.2_Missense_Mutation_p.T245S NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 254 transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) CAACAGGGGGGTGTGCTCGCC 0.711 RPSAP58 388524 broad.mit.edu 37 19 24010294 24010294 + Missense_Mutation SNP C G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr19:24010294C>G uc002nrn.2 + 4 754 c.331C>G c.(331-333)CAG>GAG p.Q111E NM_002295 NP_002286 ribosomal protein SA 0 CTTCACTAACCAGATCCAGGC 0.567 ST6GAL2 84620 broad.mit.edu 37 2 107459661 107459661 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr2:107459661C>T uc002tdq.2 - 2 892 c.773G>A c.(772-774)CGC>CAC p.R258H ST6GAL2_uc002tdr.2_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 258 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CACGCGCGCGCGGCTCCGCAG 0.736 PSD4 23550 broad.mit.edu 37 2 113950118 113950118 + Missense_Mutation SNP G A A rs140435814 byFrequency TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr2:113950118G>A uc002tjc.2 + 6 1973 c.1790G>A c.(1789-1791)CGC>CAC p.R597H PSD4_uc002tjd.2_Missense_Mutation_p.R218H|PSD4_uc002tje.2_Missense_Mutation_p.R568H|PSD4_uc002tjf.2_Missense_Mutation_p.R218H NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 597 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CGCCTCTATCGCCTGGAGGGC 0.597 INPP5D 3635 broad.mit.edu 37 2 234112804 234112804 + Missense_Mutation SNP C T T rs142742228 by1000genomes TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr2:234112804C>T uc010zmo.1 + 25 3161 c.3008C>T c.(3007-3009)ACG>ATG p.T1003M INPP5D_uc010zmp.1_Missense_Mutation_p.T1002M NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 1003 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCAGGGGACACGCTGCCTCAG 0.517 CABIN1 23523 broad.mit.edu 37 22 24452748 24452748 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr22:24452748G>A uc002zzi.1 + 10 1314 c.1187G>A c.(1186-1188)CGT>CAT p.R396H CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.1_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.1_Missense_Mutation_p.R351H NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 396 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 CGGTCTGCCCGTGTCCGAAAC 0.448 TRIM71 131405 broad.mit.edu 37 3 32933302 32933302 + Silent SNP A G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr3:32933302A>G uc003cff.2 + 4 2669 c.2606A>G c.(2605-2607)TAA>TGA p.*869* NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 869 multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CTCGTCTTCTAATTGCATTTC 0.408 SI 6476 broad.mit.edu 37 3 164733001 164733001 + Silent SNP A G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr3:164733001A>G uc003fei.2 - 33 3971 c.3909T>C c.(3907-3909)AAT>AAC p.N1303N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1303 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCTTTGTTTCATTTCCTGAAA 0.348 HNSCC(35;0.089) NDST4 64579 broad.mit.edu 37 4 115998231 115998231 + Translation_Start_Site SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr4:115998231G>A uc003ibu.2 - 2 641 c.-38C>T c.(-40--36)AACGA>AATGA NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCCCAATTTCGTTTCCTAAAG 0.338 TRIML2 205860 broad.mit.edu 37 4 189012730 189012730 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr4:189012730C>T uc003izl.2 - 7 997 c.961G>A c.(961-963)GGG>AGG p.G321R TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc011cle.1_Missense_Mutation_p.G396S NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 321 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGGAAAACGCCAACTGTGTCC 0.517 ADAMTS6 11174 broad.mit.edu 37 5 64520167 64520167 + Missense_Mutation SNP G A A rs143194045 TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr5:64520167G>A uc003jtp.2 - 18 3066 c.2252C>T c.(2251-2253)GCC>GTC p.A751V ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 751 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CTTTGACATGGCAACTTCTCT 0.408 PCDHA2 56146 broad.mit.edu 37 5 140176553 140176553 + Silent SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr5:140176553G>A uc003lhd.2 + 1 2110 c.2004G>A c.(2002-2004)TCG>TCA p.S668S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.S668S|PCDHA2_uc011czy.1_Silent_p.S668S NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 668 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTAGTGTCGTTGGTGGAAA 0.652 TRIM26 7726 broad.mit.edu 37 6 30164404 30164404 + Silent SNP C T T rs137972961 TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr6:30164404C>T uc003npr.2 - 5 863 c.654G>A c.(652-654)ACG>ACA p.T218T TRIM26_uc003nps.2_Silent_p.T218T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.T218T NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 218 Potential. DNA binding|zinc ion binding ovary(2)|lung(1) 3 CCCTGCCCTCCGTGAGCTCCT 0.642 SIM1 6492 broad.mit.edu 37 6 100911318 100911318 + Silent SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr6:100911318C>T uc003pqj.3 - 1 234 c.27G>A c.(25-27)GCG>GCA p.A9A SIM1_uc010kcu.2_Silent_p.A9A NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 9 Basic motif. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TCCTAGTCCGCGCAGCATTTT 0.423 FNDC1 84624 broad.mit.edu 37 6 159655381 159655381 + Silent SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr6:159655381G>A uc010kjv.2 + 11 4037 c.3837G>A c.(3835-3837)CCG>CCA p.P1279P FNDC1_uc010kjw.1_Silent_p.P1164P NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1279 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) ACCCCTGGCCGCAGTACACCA 0.701 CHN2 1124 broad.mit.edu 37 7 29438049 29438049 + Silent SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr7:29438049C>T uc003szz.2 + 5 674 c.237C>T c.(235-237)GCC>GCT p.A79A CHN2_uc011jzs.1_Silent_p.A154A|CHN2_uc010kva.2_Intron|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.A44A|CHN2_uc011jzt.1_Silent_p.A92A|CHN2_uc010kvd.2_Intron|CHN2_uc011jzu.1_Silent_p.A64A NM_004067 NP_004058 P52757 CHIO_HUMAN beta chimerin isoform 2 79 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2) 2 TGGAGGGTGCCTACATCCTTA 0.522 ASB4 51666 broad.mit.edu 37 7 95115358 95115358 + Silent SNP A G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr7:95115358A>G uc011kij.1 + 1 75 c.75A>G c.(73-75)CTA>CTG p.L25L ASB4_uc003unx.2_Silent_p.L25L NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 25 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TTGAGGCGCTAAAGTCCAATG 0.438 PODXL 5420 broad.mit.edu 37 7 131195806 131195807 + Frame_Shift_Ins INS - G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr7:131195806_131195807insG uc003vqw.3 - 2 744_745 c.486_487insC c.(484-489)AGCAGCfs p.S162fs PODXL_uc003vqx.3_Frame_Shift_Ins_p.S162fs NM_001018111 NP_001018121 O00592 PODXL_HUMAN podocalyxin-like isoform 1 precursor 162_163 Thr-rich.|Extracellular (Potential). cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle breast(2)|pancreas(1) 3 Melanoma(18;0.162) ACACTGTGGCTGCTTTTCCCCC 0.535 ANK1 286 broad.mit.edu 37 8 41566469 41566469 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr8:41566469C>T uc003xok.2 - 17 1909 c.1825G>A c.(1825-1827)GCT>ACT p.A609T NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_5'Flank|ANK1_uc003xoi.2_Missense_Mutation_p.A609T|ANK1_uc003xoj.2_Missense_Mutation_p.A609T|ANK1_uc003xol.2_Missense_Mutation_p.A609T|ANK1_uc003xom.2_Missense_Mutation_p.A642T NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 609 ANK 18.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.A609T(1) ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TGCTTGGCAGCGATGTGCAAA 0.582 ATP6V0D2 245972 broad.mit.edu 37 8 87162356 87162356 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr8:87162356C>T uc003ydp.1 + 6 724 c.655C>T c.(655-657)CGT>TGT p.R219C NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 219 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 GGCCGACAGACGTGCTTTTAT 0.408 ADAMTSL1 92949 broad.mit.edu 37 9 18777555 18777555 + Missense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chr9:18777555C>T uc003zne.3 + 19 3455 c.3328C>T c.(3328-3330)CGC>TGC p.R1110C NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1110 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) GGAGATCTTCCGCAGCCACCT 0.647 DCAF8L2 347442 broad.mit.edu 37 X 27765562 27765562 + Nonsense_Mutation SNP C T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chrX:27765562C>T uc011mjy.1 + 1 637 c.550C>T c.(550-552)CGA>TGA p.R184* NM_001136533 NP_001130005 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|pancreas(1) 2 TGCCCTGCCCCGACCTCGCTG 0.612 ZNF630 57232 broad.mit.edu 37 X 47918931 47918931 + Missense_Mutation SNP G C C TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chrX:47918931G>C uc004div.3 - 5 1152 c.900C>G c.(898-900)TTC>TTG p.F300L ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.F176L NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 300 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 ATTTCTCACTGAAGGCTTTCC 0.413 DCX 1641 broad.mit.edu 37 X 110644549 110644549 + Missense_Mutation SNP T G G TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chrX:110644549T>G uc004epd.2 - 3 789 c.617A>C c.(616-618)TAT>TCT p.Y206S DCX_uc011msv.1_Missense_Mutation_p.Y206S|DCX_uc004epe.2_Missense_Mutation_p.Y125S|DCX_uc004epf.2_Missense_Mutation_p.Y125S|DCX_uc004epg.2_Missense_Mutation_p.Y125S NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 206 Doublecortin 1. Y -> H (in LISX1 and SBHX).|Y -> D (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GGAACAGACATAGCTTTCCCC 0.378 AIFM1 9131 broad.mit.edu 37 X 129264005 129264005 + Missense_Mutation SNP G T T TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chrX:129264005G>T uc004evg.2 - 15 1888 c.1710C>A c.(1708-1710)GAC>GAA p.D570E AIFM1_uc011mur.1_Missense_Mutation_p.D218E|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.D566E|AIFM1_uc004evi.2_Missense_Mutation_p.D283E|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 570 activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 CGACCACTTTGTCCCTGAGGT 0.517 ATP6AP1 537 broad.mit.edu 37 X 153663708 153663708 + Missense_Mutation SNP G A A TCGA-28-5215-01A-01D-1486-08 TCGA-28-5215-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx 34c77b5d-c3a6-4e83-96f4-fadd729362d9 0a812843-5ccb-4b1a-9507-22ebef53b113 g.chrX:153663708G>A uc004flf.1 + 9 1121 c.1060G>A c.(1060-1062)GCC>ACC p.A354T ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank NM_001183 NP_001174 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory 354 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(3)|breast(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGCTCCGTCGCCTACTTCAA 0.597