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 FAM5B 57795 broad.mit.edu 37 1 177245464 177245464 + Silent SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr1:177245464C>A uc001glf.2 + 6 1218 c.906C>A c.(904-906)ACC>ACA p.T302T FAM5B_uc010pna.1_Silent_p.T52T|FAM5B_uc001glg.2_Silent_p.T197T NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 302 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GCAGCCCCACCTTCCCTGAAT 0.577000 RBP3 5949 broad.mit.edu 37 10 48388390 48388390 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr10:48388390C>T uc001jez.2 - 1 2602 c.2488G>A c.(2488-2490)GCC>ACC p.A830T NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 830 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CGCTGGCCGGCGACCTGGGGC 0.607000 BRSK2 9024 broad.mit.edu 37 11 1472605 1472605 + Silent SNP G G A rs3793971 TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr11:1472605G>A uc001lti.2 + 15 1886 c.1500G>A c.(1498-1500)CCG>CCA p.P500P BRSK2_uc009ycv.1_Silent_p.P522P|BRSK2_uc001lth.1_Silent_p.P500P|BRSK2_uc001ltj.2_Silent_p.P500P|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Silent_p.P500P|BRSK2_uc001ltm.2_Silent_p.P546P|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA|BRSK2_uc009ycw.2_5'UTR NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 500 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCACAGTTCCGACGCCGGAGG 0.637000 SERPING1 710 broad.mit.edu 37 11 57381843 57381843 + Missense_Mutation SNP C C A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr11:57381843C>A uc001nkp.1 + 8 1483 c.1292C>A c.(1291-1293)ACA>AAA p.T431K SERPING1_uc001nkq.1_Missense_Mutation_p.T394K|SERPING1_uc010rju.1_Missense_Mutation_p.T379K|SERPING1_uc010rjv.1_Missense_Mutation_p.T436K|SERPING1_uc001nkr.1_Missense_Mutation_p.T431K|SERPING1_uc009ymi.1_Missense_Mutation_p.T440K|SERPING1_uc009ymj.1_3'UTR|SERPING1_uc001nks.1_Missense_Mutation_p.T122K NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 431 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 TGTGGGCTGACAGAGGACCCA 0.522000 Hereditary_Angioedema ODZ4 26011 broad.mit.edu 37 11 78413143 78413143 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr11:78413143G>A uc001ozl.3 - 28 4978 c.4515C>T c.(4513-4515)CTC>CTT p.L1505L ODZ4_uc009yvb.1_Silent_p.L89L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1505 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CCCCAGCAACGAGTGAGATCT 0.473000 ETNK1 55500 broad.mit.edu 37 12 22796905 22796905 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr12:22796905T>C uc001rft.2 + 2 654 c.632T>C c.(631-633)ATA>ACA p.I211T ETNK1_uc009ziz.2_Missense_Mutation_p.I211T|ETNK1_uc001rfs.2_Missense_Mutation_p.I211T NM_018638 NP_061108 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 isoform A 211 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity 0 TATGAATTTATACAAGGAGAA 0.398000 ATF7 11016 broad.mit.edu 37 12 53918448 53918448 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr12:53918448T>C uc001sdy.2 - 9 1079 c.1058A>G c.(1057-1059)AAC>AGC p.N353S ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.N342S|ATF7_uc010sol.1_Missense_Mutation_p.N321S NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 353 Basic motif.|Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 TGCAGCCCGGTTGCGCTCCAG 0.607000 TMX1 81542 broad.mit.edu 37 14 51713861 51713861 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr14:51713861C>T uc001wza.3 + 4 491 c.366C>T c.(364-366)GAC>GAT p.D122D TMX1_uc010aoa.2_Silent_p.D38D NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN thioredoxin domain containing 1 precursor 122 Thioredoxin.|Extracellular (Potential). anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity 0 CTAAGAAGGACTTCATAAACT 0.363000 DLST 1743 broad.mit.edu 37 14 75361090 75361090 + Missense_Mutation SNP A A G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr14:75361090A>G uc001xqv.2 + 10 811 c.748A>G c.(748-750)ACT>GCT p.T250A DLST_uc001xqu.2_Missense_Mutation_p.T162A|DLST_uc001xqt.2_Missense_Mutation_p.T166A|DLST_uc010tuw.1_Missense_Mutation_p.T164A|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.T250A NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 250 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) AATGCTGACAACTTTTAATGA 0.468000 DENND4A 10260 broad.mit.edu 37 15 65989678 65989678 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr15:65989678T>C uc002aph.2 - 20 3123 c.2745A>G c.(2743-2745)GAA>GAG p.E915E DENND4A_uc002api.2_Silent_p.E958E|DENND4A_uc002apj.3_Silent_p.E915E NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 915 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CTCTTCTAACTTCATCTTTAG 0.318000 ADAMTSL3 57188 broad.mit.edu 37 15 84611717 84611717 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr15:84611717G>A uc002bjz.3 + 19 2597 c.2373G>A c.(2371-2373)ACG>ACA p.T791T ADAMTSL3_uc010bmt.1_Silent_p.T791T|ADAMTSL3_uc010bmu.1_Silent_p.T791T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 791 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGCTGCTAACGGATGGCAGCT 0.547000 ADAD2 161931 broad.mit.edu 37 16 84228960 84228960 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr16:84228960C>T uc002fhr.2 + 5 906 c.792C>T c.(790-792)ACC>ACT p.T264T ADAD2_uc002fhq.2_Silent_p.T346T|uc002fhs.1_5'UTR NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 264 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 CTCTGGGCACCGGCAGCAGCT 0.677000 SLC35B1 10237 broad.mit.edu 37 17 47783608 47783608 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr17:47783608G>A uc002iph.1 - 3 384 c.297C>T c.(295-297)GTC>GTT p.V99V SLC35B1_uc002ipi.1_Silent_p.V32V|SLC35B1_uc002ipj.1_5'UTR|SLC35B1_uc010wly.1_Silent_p.V99V NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 99 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 AATTGCTGGAGACCATGGCAC 0.498000 ATP8B3 148229 broad.mit.edu 37 19 1785587 1785587 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:1785587C>T uc002ltw.2 - 26 3508 c.3274G>A c.(3274-3276)GTC>ATC p.V1092I ATP8B3_uc002ltv.2_Missense_Mutation_p.V1055I|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1092 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AAGAAGTTGACCAGAGAGGTG 0.612000 ZNF567 163081 broad.mit.edu 37 19 37210533 37210533 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:37210533C>T uc010xtl.1 + 6 1129 c.907C>T c.(907-909)CAC>TAC p.H303Y ZNF567_uc002oeo.1_Missense_Mutation_p.H303Y|ZNF567_uc010xtk.1_Missense_Mutation_p.H303Y|ZNF567_uc002oep.3_Missense_Mutation_p.H272Y|ZNF567_uc002oeq.1_Missense_Mutation_p.H272Y NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 303 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCAGAGAACTCACACAGGAGA 0.423000 PSG3 5671 broad.mit.edu 37 19 43242982 43242982 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:43242982C>T uc002oue.2 - 2 456 c.324G>A c.(322-324)CTG>CTA p.L108L PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.L130L NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 108 Ig-like V-type. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CATTCTGGATCAGCAGGGATG 0.448000 SLC8A2 6543 broad.mit.edu 37 19 47969473 47969473 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:47969473G>A uc002pgx.2 - 2 466 c.188C>T c.(187-189)CCG>CTG p.P63L SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.P63L NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 63 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) ACCCAGCGACGGGTCGTCGGG 0.672000 BIRC8 112401 broad.mit.edu 37 19 53793270 53793270 + Nonsense_Mutation SNP G G A rs113838023 byFrequency TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:53793270G>A uc002qbk.2 - 1 1606 c.358C>T c.(358-360)CGA>TGA p.R120* NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 120 apoptosis zinc ion binding p.R120*(1) lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AATCCCATTCGTATAGCTTCT 0.383000 ZSCAN5B 342933 broad.mit.edu 37 19 56704310 56704310 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:56704310T>A uc010ygh.1 - 1 112 c.112A>T c.(112-114)AGG>TGG p.R38W NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 38 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TCAGGGTTCCTGTCGTGATTT 0.562000 ZSCAN5B 342933 broad.mit.edu 37 19 56704314 56704314 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:56704314G>A uc010ygh.1 - 1 108 c.108C>T c.(106-108)CAC>CAT p.H36H NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 36 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTTCCTGTCGTGATTTCCAA 0.562000 ZNF470 388566 broad.mit.edu 37 19 57089694 57089694 + Missense_Mutation SNP C C T rs143160710 TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:57089694C>T uc002qnl.3 + 6 2573 c.1897C>T c.(1897-1899)CGT>TGT p.R633C ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 633 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CTTTAGCCATCGTAAATCCCT 0.433000 HS1BP3 64342 broad.mit.edu 37 2 20840801 20840801 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr2:20840801T>C uc002rdw.1 - 3 379 c.338A>G c.(337-339)AAT>AGT p.N113S HS1BP3_uc002rdx.2_Missense_Mutation_p.N113S|HS1BP3_uc002rdy.2_Missense_Mutation_p.N113S NM_022460 NP_071905 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 113 PX. cell communication phosphatidylinositol binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGATCTCATTGAACACGGC 0.582000 STRN 6801 broad.mit.edu 37 2 37076928 37076928 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr2:37076928G>A uc002rpn.2 - 17 2111 c.2102C>T c.(2101-2103)TCG>TTG p.S701L STRN_uc010ezx.2_Missense_Mutation_p.S664L NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 701 WD 4. dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) GGCTACCATCGAGTGGATCAG 0.413000 C2orf78 388960 broad.mit.edu 37 2 74042710 74042710 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr2:74042710C>T uc002sjr.1 + 3 1481 c.1360C>T c.(1360-1362)CCC>TCC p.P454S NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 454 ovary(2) 2 TACTTACCTCCCCCCGATCTT 0.463000 CXCR2 3579 broad.mit.edu 37 2 218999840 218999840 + Missense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr2:218999840G>A uc002vgz.1 + 4 541 c.316G>A c.(316-318)GCC>ACC p.A106T CXCR2_uc002vha.1_Missense_Mutation_p.A106T|CXCR2_uc002vhb.1_Missense_Mutation_p.A106T NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 106 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 CATCTGGGCCGCCTCCAAGGT 0.552000 ATRN 8455 broad.mit.edu 37 20 3541448 3541448 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr20:3541448C>T uc002wim.2 + 8 1433 c.1343C>T c.(1342-1344)TCT>TTT p.S448F ATRN_uc002wil.2_Missense_Mutation_p.S448F NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 448 Extracellular (Potential).|Kelch 2. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 GTTGGGCACTCTGCACACATT 0.453000 GDF5 8200 broad.mit.edu 37 20 34021881 34021881 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr20:34021881C>T uc010gfc.1 - 2 1573 c.1332G>A c.(1330-1332)ACG>ACA p.T444T uc002xcj.2_Missense_Mutation_p.R98C|GDF5_uc002xck.1_Silent_p.T444T|GDF5_uc010zvc.1_Silent_p.T444T NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 444 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CTGCATGATTCGTGGGCTCCA 0.612000 CLDN8 9073 broad.mit.edu 37 21 31587979 31587979 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr21:31587979C>T uc002ynu.1 - 1 340 c.265G>A c.(265-267)GTG>ATG p.V89M NM_199328 NP_955360 P56748 CLD8_HUMAN claudin 8 89 Helical; (Potential). calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 AAGGACATCACGGAAGCAGCA 0.537000 SAPS2 9701 broad.mit.edu 37 22 50878172 50878172 + Missense_Mutation SNP C C T rs148549099 TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr22:50878172C>T uc003blb.1 + 21 2593 c.2171C>T c.(2170-2172)ACG>ATG p.T724M SAPS2_uc003bky.1_Missense_Mutation_p.T698M|SAPS2_uc003bkz.1_Missense_Mutation_p.T697M|SAPS2_uc003blc.2_Missense_Mutation_p.T724M|SAPS2_uc003bla.1_Missense_Mutation_p.T698M|SAPS2_uc003bld.1_Missense_Mutation_p.T257M NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 724 cytoplasm|intracellular membrane-bounded organelle protein binding 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.222) GCGAACTCAACGCCCACAGCC 0.632000 AZI2 64343 broad.mit.edu 37 3 28373891 28373891 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:28373891T>A uc003ceb.2 - 6 1148 c.616A>T c.(616-618)AGC>TGC p.S206C AZI2_uc003cec.2_Missense_Mutation_p.S94C|AZI2_uc003ced.2_Missense_Mutation_p.S206C|AZI2_uc003cee.3_Missense_Mutation_p.S206C|AZI2_uc003ceg.2_Missense_Mutation_p.S206C|AZI2_uc011axd.1_Missense_Mutation_p.S206C|AZI2_uc003cef.2_Missense_Mutation_p.S206C NM_022461 NP_071906 Q9H6S1 AZI2_HUMAN 5-azacytidine induced 2 isoform a 206 Interaction with TBK1. mitochondrion|plasma membrane ovary(2) 2 AGATCTCTGCTCTTCAGATTG 0.328000 SNTN 132203 broad.mit.edu 37 3 63649696 63649696 + Silent SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:63649696C>T uc003dlr.2 + 4 389 c.369C>T c.(367-369)TTC>TTT p.F123F NM_001080537 NP_001074006 A6NMZ2 SNTAN_HUMAN sentan, cilia apical structure protein 123 cilium calcium ion binding ovary(1) 1 TTGAAGACTTCATGATCTTGC 0.338000 ROBO2 6092 broad.mit.edu 37 3 77526676 77526676 + Nonsense_Mutation SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:77526676G>A uc003dpy.3 + 3 1143 c.500G>A c.(499-501)TGG>TAG p.W167* ROBO2_uc003dpz.2_Nonsense_Mutation_p.W167*|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Nonsense_Mutation_p.W167* NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 167 Ig-like C2-type 2.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACCATCTACTGGAAAAAAGAC 0.453000 TFG 10342 broad.mit.edu 37 3 100463762 100463762 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:100463762T>C uc003due.2 + 7 1256 c.807T>C c.(805-807)GGT>GGC p.G269G TFG_uc003duf.2_Silent_p.G269G|TFG_uc003dug.2_Silent_p.G265G|TFG_uc003duh.2_Silent_p.G265G|TFG_uc003dui.2_Silent_p.G269G NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 269 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 AACAGTATGGTATTCAGTATT 0.448000 T NTRK1|ALK papillary thyroid|ALCL|NSCLC SOX14 8403 broad.mit.edu 37 3 137484052 137484052 + Silent SNP G G T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:137484052G>T uc003erm.1 + 1 474 c.426G>T c.(424-426)GCG>GCT p.A142A NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 142 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 TGGACCCCGCGCAGTTTAGCT 0.716000 EHHADH 1962 broad.mit.edu 37 3 184966304 184966304 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:184966304T>C uc003fpf.2 - 2 103 c.76A>G c.(76-78)ACG>GCG p.T26A EHHADH_uc011brs.1_5'UTR NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 26 Enoyl-CoA hydratase / isomerase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) AGTAAAGTCGTACTAAAAGAA 0.333000 EVC2 132884 broad.mit.edu 37 4 5578019 5578019 + Missense_Mutation SNP G G C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr4:5578019G>C uc003gij.2 - 18 3274 c.3220C>G c.(3220-3222)CTG>GTG p.L1074V EVC2_uc011bwb.1_Missense_Mutation_p.L514V|EVC2_uc003gik.2_Missense_Mutation_p.L994V NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1074 Potential. integral to membrane large_intestine(3)|ovary(2) 5 GCTTGGTGCAGGACAGTAGAG 0.592000 APBB2 323 broad.mit.edu 37 4 40824002 40824002 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr4:40824002G>A uc003gvl.2 - 17 2625 c.1995C>T c.(1993-1995)GAC>GAT p.D665D APBB2_uc010ifu.2_Silent_p.D237D|APBB2_uc003gvm.2_Silent_p.D643D|APBB2_uc003gvn.2_Silent_p.D666D|APBB2_uc003gvk.2_Silent_p.D117D NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 665 PID 2. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 ATGTGTGGACGTCCTTCCCAA 0.522000 TXK 7294 broad.mit.edu 37 4 48116415 48116415 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr4:48116415G>A uc003gxx.3 - 2 107 c.21C>T c.(19-21)AAC>AAT p.N7N TXK_uc003gxy.1_Silent_p.N7N NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 7 cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 ACTGGATGGTGTTATCTGAAA 0.418000 C4orf33 132321 broad.mit.edu 37 4 130030829 130030829 + Splice_Site SNP T T G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr4:130030829T>G uc003igu.3 + 5 858 c.494_splice c.e5+2 p.F165_splice C4orf33_uc010ioc.1_Nonstop_Mutation_p.*166E|C4orf33_uc010iod.2_Splice_Site_p.F165_splice NM_173487 NP_775758 Q8N1A6 CD033_HUMAN hypothetical protein LOC132321 upper_aerodigestive_tract(1) 1 ACCTGATTTGTAAGTAGAAAA 0.338000 TTC29 83894 broad.mit.edu 37 4 147724798 147724798 + Missense_Mutation SNP A A T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr4:147724798A>T uc003ikw.3 - 11 1368 c.1141T>A c.(1141-1143)TTT>ATT p.F381I TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.F407I|TTC29_uc010ipd.1_Missense_Mutation_p.F381I NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 381 TPR 5. binding 0 all_hematologic(180;0.151) GTTGTGTCAAAAGCTTGCTGA 0.348000 CDSN 1041 broad.mit.edu 37 6 31084714 31084714 + Silent SNP G G A rs145637055 byFrequency TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr6:31084714G>A uc003nsm.1 - 2 705 c.678C>T c.(676-678)CCC>CCT p.P226P PSORS1C1_uc003nsl.1_Intron|PSORS1C1_uc010jsj.1_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN corneodesmosin precursor 226 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity ovary(1)|pancreas(1) 2 CTCCACTGCAGGGAGAGTCGG 0.627000 INTS1 26173 broad.mit.edu 37 7 1535799 1535799 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr7:1535799T>C uc003skn.2 - 12 1805 c.1704A>G c.(1702-1704)GAA>GAG p.E568E INTS1_uc003skp.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 568 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TACTCCTCTTTTCTCCTTTGT 0.652000 ZAN 7455 broad.mit.edu 37 7 100350373 100350373 + Missense_Mutation SNP C C T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr7:100350373C>T uc003uwj.2 + 14 2810 c.2645C>T c.(2644-2646)ACG>ATG p.T882M ZAN_uc003uwk.2_Missense_Mutation_p.T882M|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 882 66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCATCCCCACGGAAAAACCC 0.502000 KCND2 3751 broad.mit.edu 37 7 119914783 119914783 + Missense_Mutation SNP C C G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr7:119914783C>G uc003vjj.1 + 1 1062 c.97C>G c.(97-99)CAG>GAG p.Q33E NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 33 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TCCCCCGAGGCAGGAGAGGAA 0.627000 CNOT4 4850 broad.mit.edu 37 7 135079154 135079154 + Silent SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr7:135079154T>C uc003vsv.1 - 10 1450 c.1143A>G c.(1141-1143)GTA>GTG p.V381V CNOT4_uc003vss.2_Silent_p.V378V|CNOT4_uc011kpz.1_Silent_p.V378V|CNOT4_uc003vst.2_Silent_p.V381V|CNOT4_uc003vsu.1_Silent_p.V378V|CNOT4_uc011kpy.1_Silent_p.V381V NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 381 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 TAGAGGATGATACTGGGATTG 0.383000 RP1 6101 broad.mit.edu 37 8 55542840 55542840 + Missense_Mutation SNP T T C TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr8:55542840T>C uc003xsd.1 + 4 6546 c.6398T>C c.(6397-6399)CTT>CCT p.L2133P RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 2133 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGTGAAAATCTTTTCATTTGG 0.323000 ABCA1 19 broad.mit.edu 37 9 107571749 107571749 + Silent SNP G G A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr9:107571749G>A uc004bcl.2 - 30 4585 c.4272C>T c.(4270-4272)ATC>ATT p.I1424I NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1424 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCACTCACGGGATTGGGTTTC 0.507000 ZNF157 7712 broad.mit.edu 37 X 47272403 47272403 + Missense_Mutation SNP T T A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chrX:47272403T>A uc004dhr.1 + 4 1000 c.931T>A c.(931-933)TTC>ATC p.F311I NM_003446 NP_003437 P51786 ZN157_HUMAN zinc finger protein 157 311 C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 TGGGAAAAACTTCCGTGCAAA 0.423000 CDCP1 64866 broad.mit.edu 37 3 45160116 45160119 + Splice_Site DEL GAAG GAAG - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:45160115_45160118TGAAG>T uc003com.3 - 2 218 c.83_splice c.e2-1 p.E28_splice CDCP1_uc003con.3_Splice_Site_p.E28_splice NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 28 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CAAAAGCTTCTGAAGGAAGGAAGG 0.471 C11orf2 738 broad.mit.edu 37 11 64863866 64863866 + Frame_Shift_Del DEL G G - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr11:64863866delG uc001ocr.1 + 1 184 c.144delG c.(142-144)GCGfs p.A48fs NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 48 lipid transport|protein transport Golgi apparatus|integral to membrane 0 AAGGGGAGGCGGCGGGACGCC 0.701 KDM5C 8242 broad.mit.edu 37 X 53228037 53228038 + Frame_Shift_Ins INS - - A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chrX:53228037_53228038insA uc004drz.2 - 16 2809_2810 c.2276_2277insT c.(2275-2277)ATGfs p.M759fs KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Frame_Shift_Ins_p.M692fs|KDM5C_uc004dsa.2_Frame_Shift_Ins_p.M758fs NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 759 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 GCTTATGCAGCATGGCAGGAAG 0.579 N|F|S clear cell renal carcinoma ATP1A1 476 broad.mit.edu 37 1 116930018 116930019 + Frame_Shift_Ins INS - - G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr1:116930017_116930018T>TG uc001ege.3 + 3 630_631 c.291_292T>TG c.(289-294)tttgggfs p.F97fs ATP1A1_uc010owv.1_Frame_Shift_Ins_p.F66fs|ATP1A1_uc010oww.2_Frame_Shift_Ins_p.F97fs|ATP1A1_uc010owx.2_Frame_Shift_Ins_p.F66fs NM_000701 NP_001153706 P05023 AT1A1_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA. 97 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GGCAGCTCTTTGGGGGGTTCTC 0.510 OBSCN 84033 broad.mit.edu 37 1 228430943 228430944 + Frame_Shift_Ins INS - - G TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr1:228430942_228430943A>AG uc009xez.1 + 9 3032_3033 c.2988_2989A>AG c.(2986-2991)gcagggfs p.A996fs OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 996 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGCTGAGGCAGGGGCCAGTGC 0.589 CDCP1 64866 broad.mit.edu 37 3 45160116 45160119 + Splice_Site DEL GAAG GAAG - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr3:45160115_45160118TGAAG>T uc003com.3 - 2 218 c.83_splice c.e2-1 p.E28_splice CDCP1_uc003con.3_Splice_Site_p.E28_splice NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 28 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CAAAAGCTTCTGAAGGAAGGAAGG 0.471 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 CIC 23152 broad.mit.edu 37 19 42791342 42791346 + Frame_Shift_Del DEL CCCAG CCCAG - TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chr19:42791341_42791345CCCCAG>C uc002otf.1 + 2 441_445 c.401_405CCCCAG>C c.(400-405)cccccafs p.P134fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 134 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCCTCCGGCCCCCCAGGAGAGCCCC 0.663 """Mis, F, S""" oligodendroglioma KDM5C 8242 broad.mit.edu 37 X 53228038 53228039 + Frame_Shift_Ins INS - - A TCGA-CD-8532-01A-11D-2340-08 TCGA-CD-8532-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a078dcc-ae7b-4b2d-a013-2183a7dc39a3 6fcf7d26-e5d1-4d82-8d07-8fa6927d3c03 g.chrX:53228037_53228038C>CA uc004drz.3 - 15 2809_2810 c.2276_2277G>TG c.(2275-2277)atgfs p.M759fs KDM5C_uc022bxe.1_Frame_Shift_Ins_p.M692fs|KDM5C_uc004dsa.3_Frame_Shift_Ins_p.M758fs NM_004187 NP_004178 P41229 KDM5C_HUMAN Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA. 759 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCTTATGCAGCATGGCAGGAAG 0.579 """N, F, S""" clear cell renal carcinoma