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 ZNF642 339559 broad.mit.edu 37 1 40960711 40960711 + Silent SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr1:40960711G>A uc001cfo.2 + 6 855 c.561G>A c.(559-561)ACG>ACA p.T187T ZNF642_uc009vwb.2_Silent_p.T187T|ZNF642_uc010ojk.1_Silent_p.T188T NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TTTATTCCACGTTGAGAAAAG 0.398 PRKG1 5592 broad.mit.edu 37 10 54053584 54053584 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr10:54053584G>A uc001jjm.2 + 18 2134 c.1940G>A c.(1939-1941)AGT>AAT p.S647N PRKG1_uc001jjo.2_Missense_Mutation_p.S662N|PRKG1_uc009xow.1_Missense_Mutation_p.S365N|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 647 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity p.L647L(1) lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACAGACACAAGTAATTTTGAC 0.388 RRP12 23223 broad.mit.edu 37 10 99130292 99130292 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr10:99130292G>A uc001knf.2 - 23 2748 c.2609C>T c.(2608-2610)TCG>TTG p.S870L RRP12_uc009xvl.2_5'UTR|RRP12_uc009xvm.2_Missense_Mutation_p.S588L|RRP12_uc010qou.1_Missense_Mutation_p.S809L|RRP12_uc009xvn.2_Missense_Mutation_p.S770L NM_015179 NP_055994 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog isoform 1 870 integral to membrane|nuclear membrane|nucleolus protein binding ovary(2)|central_nervous_system(1) 3 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TGCGCCCACCGACACCTCCTT 0.612 RIC8A 60626 broad.mit.edu 37 11 209871 209871 + Silent SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr11:209871G>A uc001log.2 + 3 922 c.597G>A c.(595-597)ACG>ACA p.T199T BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.T199T|RIC8A_uc001loh.2_Silent_p.T192T NM_021932 NP_068751 Q9NPQ8 RIC8A_HUMAN resistance to inhibitors of cholinesterase 8 199 cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity 0 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) TGGAGCTGACGCTGGGGGTGA 0.602 OR52A4 390053 broad.mit.edu 37 11 5142008 5142008 + Silent SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr11:5142008C>T uc001lzz.1 - 1 801 c.801G>A c.(799-801)TCG>TCA p.S267S NM_001005222 NP_001005222 olfactory receptor, family 52, subfamily A, ovary(2) 2 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) TCCAAATCTGCGAGTAAAAAA 0.368 MMP3 4314 broad.mit.edu 37 11 102709358 102709358 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr11:102709358C>T uc001phj.1 - 8 1218 c.1153G>A c.(1153-1155)GTG>ATG p.V385M NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 385 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) ATTTTCCTCACGGTTGGAGGG 0.403 SCN2B 6327 broad.mit.edu 37 11 118037799 118037799 + Missense_Mutation SNP G T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr11:118037799G>T uc001psf.2 - 4 642 c.451C>A c.(451-453)CCC>ACC p.P151T NM_004588 NP_004579 O60939 SCN2B_HUMAN sodium channel, voltage-gated, type II, beta 151 Ig-like C2-type.|Extracellular (Potential). synaptic transmission voltage-gated sodium channel complex voltage-gated sodium channel activity 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117) CGCTCAGGGGGCTCTGGAAAG 0.627 PIWIL1 9271 broad.mit.edu 37 12 130833883 130833883 + Silent SNP T A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr12:130833883T>A uc001uik.2 + 8 924 c.834T>A c.(832-834)ACT>ACA p.T278T PIWIL1_uc001uij.1_Silent_p.T278T NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 278 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GAAGTGAGACTGTTTTGGATT 0.383 IRS2 8660 broad.mit.edu 37 13 110436118 110436118 + Silent SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr13:110436118C>T uc001vqv.2 - 1 2797 c.2283G>A c.(2281-2283)CTG>CTA p.L761L NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 761 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CCCCGTTGGGCAGCAGCTTGC 0.692 NFATC4 4776 broad.mit.edu 37 14 24845826 24845826 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr14:24845826C>T uc001wpc.2 + 9 2704 c.2383C>T c.(2383-2385)CGG>TGG p.R795W NFATC4_uc010tok.1_Missense_Mutation_p.R858W|NFATC4_uc010tol.1_Missense_Mutation_p.R858W|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.R808W|NFATC4_uc010ton.1_Missense_Mutation_p.R808W|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.R827W|NFATC4_uc010top.1_Missense_Mutation_p.R827W|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.R725W|NFATC4_uc010tot.1_Missense_Mutation_p.R783W|NFATC4_uc010tou.1_Missense_Mutation_p.R725W|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.R783W|NFATC4_uc010tox.1_Missense_Mutation_p.R725W|NFATC4_uc001wpd.2_Missense_Mutation_p.R330W|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.R330W|NFATC4_uc010tpa.1_Missense_Mutation_p.R83W|NFATC4_uc010tpb.1_Missense_Mutation_p.R83W NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 795 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GTATGGAGGGCGGGGCTCCTC 0.642 C14orf105 55195 broad.mit.edu 37 14 57949812 57949812 + Nonsense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr14:57949812G>A uc001xcy.2 - 3 507 c.364C>T c.(364-366)CGA>TGA p.R122* C14orf105_uc010trl.1_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Nonsense_Mutation_p.R44* NM_018168 NP_060638 Q9NVL8 CN105_HUMAN hypothetical protein LOC55195 122 0 CTGGCTTCTCGCTGGCTCAGG 0.522 ATP10A 57194 broad.mit.edu 37 15 25924506 25924506 + Silent SNP A T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr15:25924506A>T uc010ayu.2 - 21 4588 c.4482T>A c.(4480-4482)TCT>TCA p.S1494S NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1494 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACCGCCTTGAAGATGCTCCTA 0.408 CACNA1H 8912 broad.mit.edu 37 16 1259347 1259347 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr16:1259347G>A uc002cks.2 + 17 3927 c.3679G>A c.(3679-3681)GAC>AAC p.D1227N CACNA1H_uc002ckt.2_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 1227 Cytoplasmic (Potential). aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CCTGCCCAGCGACTTCTTCCT 0.736 CORO7 79585 broad.mit.edu 37 16 4409376 4409376 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr16:4409376C>T uc002cwh.3 - 23 2381 c.2261G>A c.(2260-2262)CGT>CAT p.R754H CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.R754H|CORO7_uc002cwg.3_Missense_Mutation_p.R534H|CORO7_uc010uxh.1_Missense_Mutation_p.R736H|CORO7_uc010uxi.1_Missense_Mutation_p.R669H|CORO7_uc002cwi.1_Missense_Mutation_p.R534H NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 754 WD 8. cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 CAGGAATACACGGGTGTCGCC 0.667 OREG0023580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MGRN1 23295 broad.mit.edu 37 16 4731589 4731589 + Silent SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr16:4731589G>A uc002cwz.2 + 13 1306 c.1170G>A c.(1168-1170)TCG>TCA p.S390S MGRN1_uc002cxa.2_Silent_p.S390S|MGRN1_uc010btx.2_Silent_p.S369S|MGRN1_uc010btw.2_Silent_p.S369S|MGRN1_uc002cxb.2_Silent_p.S429S|MGRN1_uc010uxo.1_Silent_p.S368S|MGRN1_uc010uxp.1_Silent_p.S368S|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 390 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 AGCCCATCTCGCTGCTCGAGG 0.647 NKD1 85407 broad.mit.edu 37 16 50664787 50664787 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr16:50664787C>T uc002egg.1 + 8 885 c.661C>T c.(661-663)CGG>TGG p.R221W NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 221 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) TGAGGACCTGCGGAGCTGGGA 0.612 CNGB1 1258 broad.mit.edu 37 16 57949167 57949167 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr16:57949167G>A uc002emt.2 - 23 2355 c.2290C>T c.(2290-2292)CCC>TCC p.P764S CNGB1_uc010cdh.2_Missense_Mutation_p.P758S NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 764 Extracellular (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 AAACAGCGGGGCAGGCGGAGG 0.602 MYH4 4622 broad.mit.edu 37 17 10355578 10355578 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr17:10355578G>A uc002gmn.2 - 27 3529 c.3418C>T c.(3418-3420)CGC>TGC p.R1140C uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1140 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 AGGTCAGAGCGCTGCTTCTCT 0.582 DNAH9 1770 broad.mit.edu 37 17 11572540 11572540 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr17:11572540C>T uc002gne.2 + 16 2959 c.2891C>T c.(2890-2892)CCA>CTA p.P964L DNAH9_uc010coo.2_Missense_Mutation_p.P258L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 964 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCTGGTGCCACGGCTTTCC 0.527 ERAL1 26284 broad.mit.edu 37 17 27182172 27182172 + Silent SNP A G G TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr17:27182172A>G uc002hcy.1 + 1 130 c.120A>G c.(118-120)CAA>CAG p.Q40Q ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank NM_005702 NP_005693 O75616 ERAL1_HUMAN Era-like 1 40 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding skin(1) 1 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) TAGGCTTCCAACGGAGGTGCG 0.627 ICAM4 3386 broad.mit.edu 37 19 10398453 10398453 + Silent SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:10398453G>A uc002mns.1 + 2 675 c.636G>A c.(634-636)GCG>GCA p.A212A ICAM4_uc002mnr.1_Missense_Mutation_p.A187T|ICAM4_uc002mnt.1_Silent_p.A212A|ICAM5_uc002mnu.3_5'Flank NM_001544 NP_001535 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 isoform 1 212 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TCTGCCACGCGCGCCTCAATC 0.642 OR10H1 26539 broad.mit.edu 37 19 15918076 15918076 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:15918076C>T uc002nbq.2 - 1 861 c.772G>A c.(772-774)GTC>ATC p.V258I NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGTAAATGACGGAGGCAAAG 0.552 CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC - - TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:16640581_16640583delTGC uc002nei.1 - 8 1079_1081 c.1005_1007delGCA c.(1003-1008)CAGCAA>CAA p.335_336QQ>Q MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 335_336 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 ctgctgctgttgctgctgctgct 0.552 PSG9 5678 broad.mit.edu 37 19 43766196 43766196 + Silent SNP G A A rs150952802 TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:43766196G>A uc002owd.3 - 3 624 c.525C>T c.(523-525)GAC>GAT p.D175D PSG9_uc002owe.3_Silent_p.D175D|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Silent_p.D175D|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 175 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) GGTAGCTTGCGTCCAGAGTCT 0.532 PLEKHA4 57664 broad.mit.edu 37 19 49360714 49360714 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:49360714G>A uc002pkx.2 - 9 1563 c.1012C>T c.(1012-1014)CGG>TGG p.R338W PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Intron NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 338 Pro-rich. cytoplasm|membrane 1-phosphatidylinositol binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCAGGGGGCCGCGGGGGGAGC 0.512 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 LRPPRC 10128 broad.mit.edu 37 2 44152273 44152273 + Silent SNP C A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr2:44152273C>A uc002rtr.2 - 27 2887 c.2829G>T c.(2827-2829)GTG>GTT p.V943V LRPPRC_uc010yob.1_Silent_p.V843V NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 943 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTGTCAGCTCCACTAATTTTT 0.323 RAB11FIP5 26056 broad.mit.edu 37 2 73315641 73315641 + Missense_Mutation SNP G C C TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr2:73315641G>C uc002siu.3 - 3 1346 c.1105C>G c.(1105-1107)CAA>GAA p.Q369E RAB11FIP5_uc002sit.3_Missense_Mutation_p.Q291E NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 369 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GAGACAGCTTGCAAGGAGCCA 0.617 DNAH6 1768 broad.mit.edu 37 2 84777113 84777113 + Nonsense_Mutation SNP C T T rs143013494 TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr2:84777113C>T uc010fgb.2 + 9 1554 c.1417C>T c.(1417-1419)CGA>TGA p.R473* DNAH6_uc002soo.2_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.2_Nonsense_Mutation_p.R52* NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 473 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 CAAGCTAAAACGAACACCTTC 0.348 YSK4 80122 broad.mit.edu 37 2 135738725 135738725 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr2:135738725G>A uc002tue.1 - 9 3617 c.3586C>T c.(3586-3588)CCA>TCA p.P1196S YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc002tuh.3_Missense_Mutation_p.P924S|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1196 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) ATTCCAGTTGGCATGAGCATA 0.428 TTN 7273 broad.mit.edu 37 2 179605482 179605482 + Missense_Mutation SNP T A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr2:179605482T>A uc010zfh.1 - 46 12189 c.11965A>T c.(11965-11967)ACC>TCC p.T3989S TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3922S|TTN_uc010zfj.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGGAGAAGGTTTTCTGGGAC 0.453 GFRA4 64096 broad.mit.edu 37 20 3640606 3640606 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr20:3640606G>A uc002wio.2 - 5 850 c.850C>T c.(850-852)CGC>TGC p.R284C GFRA4_uc002win.2_Missense_Mutation_p.R254C NM_145762 NP_665705 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 isoform b 284 anchored to membrane|extracellular region|plasma membrane receptor activity 0 AGCAGGGAGCGTCTCTCCAGG 0.642 MX2 4600 broad.mit.edu 37 21 42770891 42770891 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr21:42770891G>A uc002yzf.1 + 9 1321 c.1217G>A c.(1216-1218)CGT>CAT p.R406H MX2_uc011aer.1_RNA|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 406 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) GAGCTGCGGCGTTGCGGGGCT 0.527 CACNA1D 776 broad.mit.edu 37 3 53757913 53757913 + Missense_Mutation SNP A G G TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr3:53757913A>G uc003dgv.3 + 14 2150 c.1987A>G c.(1987-1989)ATC>GTC p.I663V CACNA1D_uc003dgu.3_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.3_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.3_Missense_Mutation_p.I330V NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 663 Helical; Name=S5 of repeat II; (Potential).|II. axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTTCATTATCATCTTTTCCTT 0.438 CNOT6L 246175 broad.mit.edu 37 4 78650009 78650009 + Silent SNP T C C TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr4:78650009T>C uc011ccd.1 - 10 1382 c.1251A>G c.(1249-1251)TCA>TCG p.S417S CNOT6L_uc003hks.2_Silent_p.S417S|CNOT6L_uc003hkt.1_Silent_p.S260S NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 417 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 TATAAATACCTGAATCTGGCA 0.403 FRAS1 80144 broad.mit.edu 37 4 79236756 79236756 + Missense_Mutation SNP C A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr4:79236756C>A uc003hlb.2 + 16 2127 c.1687C>A c.(1687-1689)CAA>AAA p.Q563K FRAS1_uc003hkw.2_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.2_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 563 FU 4.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGCTTGTGACCAATCCTGTGA 0.478 HCN1 348980 broad.mit.edu 37 5 45303842 45303842 + Missense_Mutation SNP A T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:45303842A>T uc003jok.2 - 6 1502 c.1477T>A c.(1477-1479)TTT>ATT p.F493I NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 493 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AACACCTCAAATCTCAACTTG 0.413 PLK2 10769 broad.mit.edu 37 5 57754862 57754862 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:57754862C>T uc003jrn.2 - 2 455 c.328G>A c.(328-330)GCA>ACA p.A110T PLK2_uc011cql.1_Missense_Mutation_p.A12T NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 110 Protein kinase. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ATAATTTTTGCGGCGTAGACT 0.423 PIK3R1 5295 broad.mit.edu 37 5 67589149 67589149 + Missense_Mutation SNP A T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:67589149A>T uc003jva.2 + 10 1697 c.1137A>T c.(1135-1137)AAA>AAT p.K379N PIK3R1_uc003jvb.2_Missense_Mutation_p.K379N|PIK3R1_uc003jvc.2_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.2_Missense_Mutation_p.K109N|PIK3R1_uc003jve.2_Missense_Mutation_p.K58N|PIK3R1_uc011crb.1_Missense_Mutation_p.K49N NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 379 SH2 1. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAAATAACAAATTAATCAAAA 0.308 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) TGFBI 7045 broad.mit.edu 37 5 135385160 135385160 + Missense_Mutation SNP G T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:135385160G>T uc003lbf.3 + 7 965 c.804G>T c.(802-804)ATG>ATT p.M268I TGFBI_uc003lbg.3_Missense_Mutation_p.M1I|TGFBI_uc003lbh.3_Missense_Mutation_p.M94I|TGFBI_uc011cyb.1_Missense_Mutation_p.M94I|TGFBI_uc010jed.2_Missense_Mutation_p.M1I NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 268 FAS1 2. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCAACACGATGCTTGAAGGTA 0.567 PCDHB8 56128 broad.mit.edu 37 5 140559327 140559327 + Missense_Mutation SNP C T T rs141057693 TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:140559327C>T uc011dai.1 + 1 1898 c.1712C>T c.(1711-1713)GCG>GTG p.A571V PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 571 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGCTCCGCGCCCTGCACC 0.716 NDST1 3340 broad.mit.edu 37 5 149925000 149925000 + Silent SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:149925000C>T uc003lsk.3 + 11 2599 c.2097C>T c.(2095-2097)GTC>GTT p.V699V NDST1_uc011dcj.1_Silent_p.V699V NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 699 Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGCCAAGGTCCTGACCATCC 0.612 ANXA6 309 broad.mit.edu 37 5 150512089 150512089 + Silent SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:150512089G>A uc003ltl.1 - 10 836 c.684C>T c.(682-684)GCC>GCT p.A228A ANXA6_uc011dcp.1_Silent_p.A196A|ANXA6_uc003ltm.1_Silent_p.A228A|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 228 Annexin 3. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCGGATGCTGGCTTCAATCG 0.542 DOCK2 1794 broad.mit.edu 37 5 169098173 169098174 + Frame_Shift_Del DEL TA - - TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr5:169098173_169098174delTA uc003maf.2 + 5 396_397 c.316_317delTA c.(316-318)TATfs p.Y106fs DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 106 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) GAAACAACTCTATGTGGTGAGA 0.441 PRSS16 10279 broad.mit.edu 37 6 27222902 27222902 + Missense_Mutation SNP G T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr6:27222902G>T uc003nja.2 + 11 1480 c.1468G>T c.(1468-1470)GGG>TGG p.G490W PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.G233W|PRSS16_uc003njd.2_RNA NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 490 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 CCTCCGCCTAGGGCGCCAGGT 0.507 MSH5 4439 broad.mit.edu 37 6 31721395 31721395 + Missense_Mutation SNP G T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr6:31721395G>T uc003nwv.1 + 12 1082 c.1003G>T c.(1003-1005)GTT>TTT p.V335F MSH5_uc003nwt.1_Missense_Mutation_p.V352F|MSH5_uc003nwu.1_Missense_Mutation_p.V335F|MSH5_uc003nww.1_Missense_Mutation_p.V335F|MSH5_uc003nwx.1_Missense_Mutation_p.V352F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 335 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CGACTGGCAGGTTCTCTACAA 0.493 Direct_reversal_of_damage|MMR ANKRD6 22881 broad.mit.edu 37 6 90333750 90333750 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr6:90333750C>T uc003pni.3 + 12 1533 c.1192C>T c.(1192-1194)CGG>TGG p.R398W ANKRD6_uc003pne.3_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.3_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.1_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.2_Missense_Mutation_p.R339W|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 398 protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CACATTGTACCGGGGCAAGGA 0.522 SLC22A3 6581 broad.mit.edu 37 6 160819102 160819102 + Missense_Mutation SNP A G G TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr6:160819102A>G uc003qti.2 + 2 548 c.521A>G c.(520-522)TAT>TGT p.Y174C SLC22A3_uc011efx.1_RNA NM_021977 NP_068812 O75751 S22A3_HUMAN solute carrier family 22 member 3 174 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ACCTTAGGCTATGCAGCAGAC 0.433 ABCB1 5243 broad.mit.edu 37 7 87135283 87135283 + Missense_Mutation SNP G A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr7:87135283G>A uc003uiz.1 - 28 3984 c.3566C>T c.(3565-3567)GCC>GTC p.A1189V ABCB1_uc011khc.1_Missense_Mutation_p.A1125V NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 1189 Cytoplasmic (Potential).|ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCTAACAAGGGCACGAGCTAT 0.403 MLL3 58508 broad.mit.edu 37 7 151970848 151970848 + Missense_Mutation SNP C A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr7:151970848C>A uc003wla.2 - 7 1173 c.954G>T c.(952-954)CAG>CAT p.Q318H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 318 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) GACTGAAATCCTGAAAGGTGC 0.423 N medulloblastoma BHLHE22 27319 broad.mit.edu 37 8 65493617 65493618 + In_Frame_Ins INS - GGC GGC TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr8:65493617_65493618insGGC uc003xvi.2 + 1 804_805 c.270_271insGGC c.(268-273)insGGC p.97_98insG LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 97_98 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 gcgcgggaagtggcggcggcgg 0.584 SAMD12 401474 broad.mit.edu 37 8 119593041 119593041 + Silent SNP A T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr8:119593041A>T uc003yom.2 - 2 234 c.105T>A c.(103-105)TCT>TCA p.S35S SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_RNA NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 isoform 35 ovary(1) 1 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) TAATGGATTGAGATTCCACAC 0.453 TBC1D2 55357 broad.mit.edu 37 9 100971301 100971301 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chr9:100971301C>T uc011lvb.1 - 9 1979 c.1799G>A c.(1798-1800)CGG>CAG p.R600Q TBC1D2_uc004ayp.2_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.2_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.2_Missense_Mutation_p.R382Q|TBC1D2_uc004ayo.3_Missense_Mutation_p.R600Q NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 600 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCTCAGCGGCCGATCCACAGC 0.652 ITIH5L 347365 broad.mit.edu 37 X 54785074 54785074 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chrX:54785074C>T uc004dtj.2 - 8 1463 c.1433G>A c.(1432-1434)CGT>CAT p.R478H NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 478 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GTAGTTCAGACGCACATCTGC 0.597 TBC1D8B 54885 broad.mit.edu 37 X 106109162 106109162 + Missense_Mutation SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chrX:106109162C>T uc004emo.2 + 16 2726 c.2561C>T c.(2560-2562)GCT>GTT p.A854V MORC4_uc004emp.3_Intron NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 854 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGTCCCTGGGCTCATTCTGCA 0.408 Unknown 0 broad.mit.edu 37 X 155252811 155252811 + Silent SNP C T T TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chrX:155252811C>T uc004fnw.1 + 6 1514 c.855C>T c.(853-855)CCC>CCT p.P285P uc004fnx.3_Silent_p.P71P NM_182905 NP_878908 WAS protein family homolog 1 GCATTGCCCCCTCTGCCCCTG 0.637 PCDH11Y 83259 broad.mit.edu 37 Y 4925190 4925190 + Missense_Mutation SNP T A A TCGA-19-5958-01A-11D-1696-08 TCGA-19-5958-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx fd385a8e-d6dc-4e65-a023-ce485793c410 eafda2ee-1ee1-4fe4-8ceb-953e687102e9 g.chrY:4925190T>A uc004fqo.2 + 1 1060 c.326T>A c.(325-327)ATT>AAT p.I109N PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 109 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 CTGATTCGAATTGAAGAGGAT 0.443