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 S100PBP 64766 broad.mit.edu 37 1 33318765 33318765 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:33318765G>A uc001bvz.2 + 6 1387 c.1110G>A c.(1108-1110)ACG>ACA p.T370T S100PBP_uc001bwc.2_Silent_p.T370T|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 370 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACCTCACCACGCGGTGAGTGG 0.348000 MACF1 23499 broad.mit.edu 37 1 39776014 39776014 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:39776014T>G uc010ois.1 + 26 3234 c.3029T>G c.(3028-3030)TTC>TGC p.F1010C MACF1_uc001cda.1_Missense_Mutation_p.F918C|MACF1_uc001cdc.1_Missense_Mutation_p.F97C|MACF1_uc009vvq.1_Missense_Mutation_p.F67C|MACF1_uc001cdb.1_Missense_Mutation_p.F97C NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1010 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTGTGCTGTTCTCAGTGGCT 0.527000 GTF2B 2959 broad.mit.edu 37 1 89329732 89329732 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:89329732G>C uc001dmo.3 - 3 309 c.190C>G c.(190-192)CCA>GCA p.P64A GTF2B_uc009wcw.1_Intron NM_001514 NP_001505 Q00403 TF2B_HUMAN general transcription factor IIB 64 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) ACTCGAGATGGATCTTTTGTT 0.398000 POGZ 23126 broad.mit.edu 37 1 151413529 151413529 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:151413529A>T uc001eyd.1 - 3 464 c.158T>A c.(157-159)GTG>GAG p.V53E POGZ_uc001eye.1_Intron|POGZ_uc010pdb.1_Missense_Mutation_p.V53E|POGZ_uc001eyf.1_Intron|POGZ_uc010pdc.1_Intron|POGZ_uc009wmv.1_Missense_Mutation_p.V53E|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Missense_Mutation_p.V53E NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 53 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AGCGATGGGCACTGGAGCCGA 0.547000 S100A7L2 645922 broad.mit.edu 37 1 153410796 153410796 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:153410796G>A uc010pdx.1 - 2 121 c.43C>T c.(43-45)CCT>TCT p.P15S NM_001045479 NP_001038944 S100 calcium binding protein A7-like 2 ovary(1) 1 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TCACCTAGAGGGATATTCATC 0.398000 APOA2 336 broad.mit.edu 37 1 161192255 161192255 + Silent SNP C C T rs138452270 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:161192255C>T uc001fzc.1 - 4 301 c.243G>A c.(241-243)ACG>ACA p.T81T APOA2_uc001fzb.1_RNA NM_001643 NP_001634 P02652 APOA2_HUMAN apolipoprotein A-II preproprotein 81 cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity skin(1) 1 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TAACCAGTTCCGTTCCAGCCT 0.498000 ATP1B1 481 broad.mit.edu 37 1 169099314 169099314 + RNA SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:169099314C>A uc001gfs.1 + 5 c.759C>A P05026 AT1B1_HUMAN Synthetic construct DNA, clone: pF1KB8186, Homo sapiens ATP1B1 gene for ATPase, Na+/K+ transporting, beta 1 polypeptide, without stop codon, in Flexi system. ATP biosynthetic process|blood coagulation|leukocyte migration sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 all_hematologic(923;0.208) CCTTCCCGTTCAGTGCACTGG 0.443000 CACNA1E 777 broad.mit.edu 37 1 181546939 181546939 + Missense_Mutation SNP G G A rs140645319 by1000genomes TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:181546939G>A uc001gow.2 + 4 715 c.550G>A c.(550-552)GTG>ATG p.V184M CACNA1E_uc009wxr.2_Missense_Mutation_p.V91M|CACNA1E_uc009wxs.2_Missense_Mutation_p.V91M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 184 I.|Extracellular (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CAATACTCACGTGGACCTGAG 0.547000 SLC26A9 115019 broad.mit.edu 37 1 205901913 205901913 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:205901913A>T uc001hdq.2 - 4 407 c.293T>A c.(292-294)CTT>CAT p.L98H SLC26A9_uc001hdp.2_Missense_Mutation_p.L98H NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 98 Helical; (Potential). integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) GACTGCAGGAAGGTTGGCCAG 0.572000 TRAF3IP3 80342 broad.mit.edu 37 1 209933473 209933473 + Missense_Mutation SNP G G A rs142003331 byFrequency TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:209933473G>A uc001hho.2 + 3 379 c.89G>A c.(88-90)CGT>CAT p.R30H TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R30H|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R30H|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R30H|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R30H NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 30 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) CAAGAGATCCGTGAAAGCCGC 0.627000 ARID4B 51742 broad.mit.edu 37 1 235377337 235377337 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:235377337C>T uc001hwq.2 - 17 2086 c.1588G>A c.(1588-1590)GAA>AAA p.E530K ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.E211K NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 530 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) tTATTCGTTTCATCTCTTGAA 0.189000 TRDMT1 1787 broad.mit.edu 37 10 17216575 17216575 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr10:17216575G>T uc001iop.2 - 2 197 c.149C>A c.(148-150)ACA>AAA p.T50K TRDMT1_uc001ioq.2_Missense_Mutation_p.T50K|TRDMT1_uc001ior.2_Missense_Mutation_p.T50K|TRDMT1_uc001ios.2_5'UTR|TRDMT1_uc009xjt.2_Missense_Mutation_p.H17N|TRDMT1_uc010qcd.1_Missense_Mutation_p.T50K|TRDMT1_uc009xjs.1_Missense_Mutation_p.H17N|TRDMT1_uc009xju.1_RNA NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 50 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 AAGTAACTGTGTGTGAGGAAA 0.368000 AIFM2 84883 broad.mit.edu 37 10 71874730 71874730 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr10:71874730C>T uc010qjg.1 - 7 929 c.916G>A c.(916-918)GTG>ATG p.V306M AIFM2_uc001jqp.1_Missense_Mutation_p.V306M NM_032797 NP_116186 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor (AIF)-like 306 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1) 1 ATGTTGGCCACGGCGATGTTG 0.592000 EBF3 253738 broad.mit.edu 37 10 131665478 131665478 + Silent SNP G G A rs151206880 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr10:131665478G>A uc001lki.1 - 10 998 c.939C>T c.(937-939)GGC>GGT p.G313G NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 322 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) CTTCGACGACGCCAGGAATGT 0.582000 PHRF1 57661 broad.mit.edu 37 11 601629 601629 + Missense_Mutation SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:601629A>T uc001lqe.2 + 10 1211 c.1080A>T c.(1078-1080)AAA>AAT p.K360N PHRF1_uc010qwc.1_Missense_Mutation_p.K360N|PHRF1_uc010qwd.1_Missense_Mutation_p.K359N|PHRF1_uc010qwe.1_Missense_Mutation_p.K356N|PHRF1_uc009ybz.1_Missense_Mutation_p.K151N NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 360 Arg-rich. RNA polymerase binding|zinc ion binding 0 CATCCGCAAAAAGTAAGAGCT 0.512000 TALDO1 6888 broad.mit.edu 37 11 760142 760142 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:760142C>T uc001lqz.2 + 4 400 c.350C>T c.(349-351)GCG>GTG p.A117V TALDO1_uc010qwl.1_Missense_Mutation_p.A117V|TALDO1_uc001lra.2_Missense_Mutation_p.A117V NM_006755 NP_006746 P37837 TALDO_HUMAN transaldolase 1 117 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GATAAAGATGCGATGGTGGCC 0.547000 C11orf41 25758 broad.mit.edu 37 11 33564658 33564658 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:33564658C>T uc001mup.3 + 1 782 c.658C>T c.(658-660)CCA>TCA p.P220S C11orf41_uc001mun.1_Missense_Mutation_p.P220S NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 220 integral to membrane ovary(2) 2 TCATGCCTCCCCATCTCCTGT 0.547000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GLYAT 10249 broad.mit.edu 37 11 58477426 58477426 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:58477426G>A uc001nnb.2 - 6 859 c.704C>T c.(703-705)CCG>CTG p.P235L NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 235 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CCGGTATTCCGGCAAGGTGCC 0.547000 MARK2 2011 broad.mit.edu 37 11 63666571 63666571 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:63666571A>C uc001nxw.2 + 7 1101 c.522A>C c.(520-522)AGA>AGC p.R174S MARK2_uc001nxx.2_Missense_Mutation_p.R174S|MARK2_uc001nxy.2_Missense_Mutation_p.R174S|MARK2_uc001nxv.3_Missense_Mutation_p.R174S|MARK2_uc001nxz.3_Missense_Mutation_p.R141S|MARK2_uc009yoy.2_Missense_Mutation_p.R141S NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 174 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TTGTCCATAGAGACTTAAAGG 0.493000 EFEMP2 30008 broad.mit.edu 37 11 65635413 65635413 + Missense_Mutation SNP G G C rs150435989 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:65635413G>C uc001ofy.3 - 10 1283 c.1089C>G c.(1087-1089)ATC>ATG p.I363M EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.I363M NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 363 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) AGGTCGCCTGGATCTGGAACA 0.577000 EFEMP2 30008 broad.mit.edu 37 11 65635426 65635426 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:65635426T>C uc001ofy.3 - 10 1270 c.1076A>G c.(1075-1077)GAC>GGC p.D359G EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D359G NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 359 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) CTGGAACACGTCAGCGGGCAC 0.592000 PC 5091 broad.mit.edu 37 11 66639309 66639309 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:66639309G>A uc001ojn.1 - 3 219 c.170C>T c.(169-171)ACG>ATG p.T57M PC_uc001ojo.1_Missense_Mutation_p.T57M|PC_uc001ojp.1_Missense_Mutation_p.T57M NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 57 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCCCAGCTCCGTGCAGGCCCG 0.577000 KCNE3 10008 broad.mit.edu 37 11 74168442 74168442 + Missense_Mutation SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:74168442T>A uc001ovc.2 - 3 514 c.167A>T c.(166-168)AAC>ATC p.N56I KCNE3_uc001ovd.2_Missense_Mutation_p.N56I NM_005472 NP_005463 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related 56 integral to membrane voltage-gated potassium channel activity ovary(1) 1 Breast(11;2.86e-06) CATGTAGGAGTTGTCATCACG 0.562000 PCF11 51585 broad.mit.edu 37 11 82879823 82879823 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:82879823G>T uc001ozx.3 + 8 2791 c.2446G>T c.(2446-2448)GGG>TGG p.G816W PCF11_uc010rsu.1_Missense_Mutation_p.G947W NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 816 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 GCTAGGAGGTGGGTGTCCTTT 0.562000 KIAA1377 57562 broad.mit.edu 37 11 101849101 101849101 + Nonsense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:101849101C>T uc001pgm.2 + 7 3139 c.2869C>T c.(2869-2871)CGA>TGA p.R957* KIAA1377_uc001pgn.2_Nonsense_Mutation_p.R913*|KIAA1377_uc010run.1_Nonsense_Mutation_p.R758* NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 957 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAGAAGAAAACGAATTGCTGA 0.353000 CASP4 837 broad.mit.edu 37 11 104819260 104819260 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:104819260G>A uc001pid.1 - 6 998 c.925C>T c.(925-927)CAC>TAC p.H309Y CASP4_uc001pib.1_Missense_Mutation_p.H253Y|CASP4_uc009yxg.1_Missense_Mutation_p.H218Y NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 309 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) AGATACATACGTGGCGTTGAA 0.443000 TMPRSS13 84000 broad.mit.edu 37 11 117780642 117780642 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:117780642C>T uc001prs.1 - 8 1081 c.988G>A c.(988-990)GCG>ACG p.A330T TMPRSS13_uc009yzr.1_Missense_Mutation_p.A9T|TMPRSS13_uc001prt.1_Missense_Mutation_p.A9T|TMPRSS13_uc001pru.1_Missense_Mutation_p.A330T NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 325 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GAGGCCAGCGCCCCTCCCACG 0.617000 C11orf63 79864 broad.mit.edu 37 11 122817220 122817220 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:122817220C>G uc001pym.2 + 6 1946 c.1649C>G c.(1648-1650)TCT>TGT p.S550C NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 550 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TTCCATTCTTCTTCTGACAGC 0.403000 TMEM45B 120224 broad.mit.edu 37 11 129725628 129725628 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr11:129725628C>T uc001qfe.1 + 4 472 c.411C>T c.(409-411)CAC>CAT p.H137H TMEM45B_uc001qff.1_Silent_p.H137H NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 137 integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) ACCACGTCCACAACCGGCCTC 0.552000 OR6C75 390323 broad.mit.edu 37 12 55759444 55759444 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr12:55759444C>A uc010spk.1 + 1 550 c.550C>A c.(550-552)CAG>AAG p.Q184K NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TCCAATGCTGCAGCTCTCTTG 0.408000 CNOT2 4848 broad.mit.edu 37 12 70704765 70704765 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr12:70704765T>C uc001svv.2 + 3 718 c.139T>C c.(139-141)TCT>CCT p.S47P CNOT2_uc009zro.2_Missense_Mutation_p.S47P|CNOT2_uc009zrp.2_Missense_Mutation_p.S27P|CNOT2_uc009zrq.2_Missense_Mutation_p.S47P NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 47 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CTACAGCCAGTCTTCTATGTT 0.388000 MYBPC1 4604 broad.mit.edu 37 12 102010978 102010978 + Splice_Site SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr12:102010978A>C uc001tii.2 + 3 164 c.62_splice c.e3-2 p.E21_splice MYBPC1_uc001tif.1_Splice_Site_p.E21_splice|MYBPC1_uc001tig.2_Splice_Site_p.E21_splice|MYBPC1_uc010svq.1_Intron|MYBPC1_uc001tih.2_Splice_Site_p.E21_splice|MYBPC1_uc001tij.2_Splice_Site_p.E21_splice|MYBPC1_uc010svr.1_Splice_Site_p.E21_splice|MYBPC1_uc010svs.1_Splice_Site_p.E21_splice|MYBPC1_uc010svt.1_Splice_Site_p.E9_splice|MYBPC1_uc010svu.1_Splice_Site_p.E21_splice|MYBPC1_uc001tik.2_Intron NM_206820 NP_996556 Q00872 MYPC1_HUMAN myosin binding protein C, slow type isoform 3 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding ovary(2)|liver(1)|skin(1) 4 CTTTCTACACAGAACCAAGTA 0.433000 SIAH3 283514 broad.mit.edu 37 13 46357872 46357872 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr13:46357872C>T uc001vap.2 - 2 538 c.456G>A c.(454-456)GCG>GCA p.A152A NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 152 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 AATCAGCCGGCGCGGGGAGGT 0.612000 HAUS4 54930 broad.mit.edu 37 14 23415837 23415837 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:23415837A>G uc001whp.2 - 9 1020 c.989T>C c.(988-990)CTT>CCT p.L330P HAUS4_uc001who.2_RNA|HAUS4_uc001whq.2_Missense_Mutation_p.L204P|HAUS4_uc001whr.2_Missense_Mutation_p.L330P|HAUS4_uc001whs.2_Missense_Mutation_p.L285P|HAUS4_uc001wht.2_Missense_Mutation_p.L330P|HAUS4_uc001whu.2_Missense_Mutation_p.L285P|HAUS4_uc001whv.2_Missense_Mutation_p.L206P|HAUS4_uc001whw.2_Missense_Mutation_p.L330P|HAUS4_uc001whx.2_Missense_Mutation_p.L285P NM_017815 NP_060285 Q9H6D7 HAUS4_HUMAN HAUS augmin-like complex, subunit 4 330 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle ovary(1) 1 CTCCTCCCCAAGGACCTCATA 0.557000 ACIN1 22985 broad.mit.edu 37 14 23532239 23532239 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:23532239T>G uc001wit.3 - 14 3284 c.2956A>C c.(2956-2958)AAG>CAG p.K986Q ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.K228Q|ACIN1_uc001wiq.3_Missense_Mutation_p.K228Q|ACIN1_uc001wir.3_Missense_Mutation_p.K259Q|ACIN1_uc001wis.3_Missense_Mutation_p.K667Q|ACIN1_uc010akg.2_Missense_Mutation_p.K973Q NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 986 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) ACTCCGGACTTCTGCTGGCTA 0.478000 AKAP6 9472 broad.mit.edu 37 14 33290766 33290766 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:33290766G>A uc001wrq.2 + 13 3917 c.3747G>A c.(3745-3747)TTG>TTA p.L1249L NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1249 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCCCTTCCTTGAAGCTTGGAG 0.438000 SGPP1 81537 broad.mit.edu 37 14 64194098 64194098 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:64194098G>A uc001xgj.2 - 1 659 c.565C>T c.(565-567)CCG>TCG p.P189S NM_030791 NP_110418 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 189 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) ACCACGGGCGGCGAGGCGGGC 0.632000 SYNE2 23224 broad.mit.edu 37 14 64628976 64628976 + Silent SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:64628976A>C uc001xgm.2 + 88 16511 c.16281A>C c.(16279-16281)CCA>CCC p.P5427P SYNE2_uc001xgl.2_Silent_p.P5427P|SYNE2_uc010apy.2_Silent_p.P1812P|SYNE2_uc001xgn.2_Silent_p.P389P|SYNE2_uc001xgo.2_RNA|SYNE2_uc001xgp.2_Silent_p.P156P|SYNE2_uc010aqa.2_5'UTR NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5427 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCTGCCCCCAGCCCTGCAGG 0.547000 KCNK13 56659 broad.mit.edu 37 14 90651236 90651236 + Silent SNP C C T rs112153420 byFrequency TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:90651236C>T uc001xye.1 + 2 1558 c.1116C>T c.(1114-1116)AAC>AAT p.N372N NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 372 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) AGATGGCCAACGGCTGCCCCC 0.597000 FBLN5 10516 broad.mit.edu 37 14 92343836 92343836 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:92343836T>C uc001xzx.3 - 10 1653 c.1180A>G c.(1180-1182)ATG>GTG p.M394V FBLN5_uc010aud.2_Missense_Mutation_p.M399V|FBLN5_uc010aue.2_Missense_Mutation_p.M435V|FBLN5_uc001xzw.2_5'Flank NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 394 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) CTTACCCGCATGTAAAATTCT 0.537000 SERPINA5 5104 broad.mit.edu 37 14 95056501 95056501 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr14:95056501G>A uc001ydm.2 + 4 953 c.743G>A c.(742-744)CGG>CAG p.R248Q SERPINA5_uc010ave.2_Missense_Mutation_p.R248Q|SERPINA3_uc001ydo.3_5'Flank NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 248 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) CTCCTGGACCGGAACCTCTCC 0.577000 MKRN3 7681 broad.mit.edu 37 15 23811198 23811198 + Missense_Mutation SNP G G A rs140349866 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:23811198G>A uc001ywh.3 + 1 745 c.269G>A c.(268-270)CGA>CAA p.R90Q MKRN3_uc001ywi.2_Missense_Mutation_p.R90Q|MKRN3_uc010ayi.1_Missense_Mutation_p.R90Q NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 90 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TTGCCAAGCCGAAGCAGCGGC 0.602000 MKRN3 7681 broad.mit.edu 37 15 23811962 23811962 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:23811962C>T uc001ywh.3 + 1 1509 c.1033C>T c.(1033-1035)CGC>TGC p.R345C MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R345C NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 345 RING-type. ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) TAGGTGTATCCGCAGGTGGAG 0.507000 GJD2 57369 broad.mit.edu 37 15 35045438 35045438 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:35045438G>A uc001zis.1 - 2 207 c.207C>T c.(205-207)CGC>CGT p.R69R uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 69 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TGGGGAAGGCGCGGTCATAGC 0.552000 DNAJC17 55192 broad.mit.edu 37 15 41067260 41067260 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:41067260G>C uc001zms.1 - 8 580 c.569C>G c.(568-570)TCC>TGC p.S190C DNAJC17_uc010bbz.1_RNA|DNAJC17_uc010bca.1_RNA|DNAJC17_uc010bcb.1_RNA NM_018163 NP_060633 Q9NVM6 DJC17_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 17 190 RRM. protein folding heat shock protein binding|nucleotide binding|RNA binding|unfolded protein binding 0 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) GACGTCTTTGGAGTAGCCACC 0.502000 KIAA1199 57214 broad.mit.edu 37 15 81230194 81230194 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:81230194C>T uc002bfw.1 + 24 3541 c.3281C>T c.(3280-3282)TCG>TTG p.S1094L KIAA1199_uc010unn.1_Missense_Mutation_p.S1094L NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1094 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TCCATCCTCTCGGATGTTCAC 0.577000 IQGAP1 8826 broad.mit.edu 37 15 91037964 91037964 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:91037964G>A uc002bpl.1 + 36 4749 c.4648G>A c.(4648-4650)GAA>AAA p.E1550K IQGAP1_uc010uqg.1_Missense_Mutation_p.E171K NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 1550 C2. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) AAAGCCTAGGGAAATGAAAGG 0.358000 ST8SIA2 8128 broad.mit.edu 37 15 93007503 93007503 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr15:93007503A>G uc002bra.2 + 6 1171 c.1016A>G c.(1015-1017)TAC>TGC p.Y339C ST8SIA2_uc002brb.2_Missense_Mutation_p.Y318C NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 339 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AAGTATGGCTACACCTCCCAG 0.532000 MSLNL 401827 broad.mit.edu 37 16 820288 820288 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr16:820288G>A uc002cjz.1 - 15 2697 c.2697C>T c.(2695-2697)AGC>AGT p.S899S NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 548 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CAACATCCAGGCTCTGCGGAG 0.692000 ABCC6 368 broad.mit.edu 37 16 16255323 16255325 + Missense_Mutation TNP ACG ACG CGA TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr16:16255323_16255325ACG>CGA uc002den.3 - 25 3640_3642 c.3603_3605CGT>TCG c.(3601-3606)CTCGTG>CTTCGG p.V1202R ABCC6_uc010bvo.2_RNA NM_001171 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C, member 6 1202 ABC transmembrane type-1 2.|Helical; Name=17; (By similarity). response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) AGAGAAGCCCACGAGGCCAGCAC 0.626000 RBBP6 5930 broad.mit.edu 37 16 24581590 24581590 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr16:24581590G>A uc002dmh.2 + 17 4619 c.3579G>A c.(3577-3579)AGG>AGA p.R1193R RBBP6_uc010vcb.1_Silent_p.R1060R|RBBP6_uc002dmi.2_Silent_p.R1159R|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Silent_p.R1026R NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1193 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) AAATGGATAGGACCCCTGAAA 0.358000 KLHL36 79786 broad.mit.edu 37 16 84693458 84693458 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr16:84693458G>A uc002fig.2 + 4 1371 c.1230G>A c.(1228-1230)GCG>GCA p.A410A KLHL36_uc010chl.2_Intron NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 410 Kelch 3. skin(2) 2 AGAACGGAGCGCTCTCTTCAG 0.582000 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) EFCAB5 374786 broad.mit.edu 37 17 28417544 28417544 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:28417544G>T uc002het.2 + 20 3981 c.3789G>T c.(3787-3789)CTG>CTT p.L1263L EFCAB5_uc010cse.2_Silent_p.L1018L|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1263 calcium ion binding ovary(1)|skin(1) 2 GAGAGGCTCTGGGAGTCCTCG 0.428000 KRTAP9-9 81870 broad.mit.edu 37 17 39411934 39411934 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:39411934C>A uc010wfq.1 + 3 254 c.252C>A c.(250-252)AGC>AGA p.S84R NM_030975 NP_112237 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 99 keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GTGGGTCCAGCTGTGGCCAGA 0.612000 IGF2BP1 10642 broad.mit.edu 37 17 47076502 47076502 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:47076502G>C uc002iom.2 + 2 541 c.207G>C c.(205-207)GAG>GAC p.E69D IGF2BP1_uc010dbj.2_Missense_Mutation_p.E69D NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding 69 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity kidney(1) 1 AACGCTTAGAGATTGAACATT 0.493000 RNFT1 51136 broad.mit.edu 37 17 58040311 58040311 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:58040311C>T uc002iya.2 - 2 484 c.391G>A c.(391-393)GCA>ACA p.A131T uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.A131T|RNFT1_uc002iyd.3_Missense_Mutation_p.A131T NM_016125 NP_057209 Q5M7Z0 RNFT1_HUMAN PTD016 protein 131 integral to membrane zinc ion binding 0 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) CCAGATTCTGCGGCAGTATCA 0.463000 AATK 9625 broad.mit.edu 37 17 79095615 79095615 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:79095615G>A uc010dia.2 - 11 2201 c.2121C>T c.(2119-2121)GGC>GGT p.G707G AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 707 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GACTGGGGCAGCCCTCAGCGT 0.706000 CD97 976 broad.mit.edu 37 19 14517256 14517256 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:14517256C>G uc002myl.2 + 15 2058 c.1935C>G c.(1933-1935)TTC>TTG p.F645L CD97_uc002mym.2_Missense_Mutation_p.F596L|CD97_uc002myn.2_Missense_Mutation_p.F552L NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 645 Cytoplasmic (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 TGCGCGTGTTCCAAGGCCAGG 0.647000 OREG0025312 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF536 9745 broad.mit.edu 37 19 30935864 30935864 + Silent SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:30935864G>C uc002nsu.1 + 2 1533 c.1395G>C c.(1393-1395)GCG>GCC p.A465A ZNF536_uc010edd.1_Silent_p.A465A NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AGAAGGAAGCGCTGGGGAAGC 0.657000 CYP2F1 1572 broad.mit.edu 37 19 41627980 41627980 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:41627980C>T uc002opu.1 + 6 820 c.764C>T c.(763-765)TCG>TTG p.S255L CYP2F1_uc010xvw.1_Missense_Mutation_p.S41L|CYP2F1_uc010xvv.1_Missense_Mutation_p.S255L|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 255 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 CACCAGGCCTCGCTAGACCCC 0.587000 GPR32 2854 broad.mit.edu 37 19 51273919 51273919 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:51273919G>A uc010ycf.1 + 1 62 c.62G>A c.(61-63)CGT>CAT p.R21H NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 21 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GTCCTGACACGTGATCGCTCT 0.522000 VN1R2 317701 broad.mit.edu 37 19 53762763 53762763 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:53762763A>C uc002qbi.2 + 1 1219 c.1135A>C c.(1135-1137)AGT>CGT p.S379R NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 379 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CAGGCTCTGCAGTATCTGCTG 0.458000 TNNT1 7138 broad.mit.edu 37 19 55645256 55645256 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:55645256A>C uc002qjb.3 - 13 879 c.790T>G c.(790-792)TTC>GTC p.F264V TNNT1_uc002qiz.3_Missense_Mutation_p.F178V|TNNT1_uc002qja.3_Missense_Mutation_p.F178V|TNNT1_uc002qjc.3_Missense_Mutation_p.F248V|TNNT1_uc002qje.3_Missense_Mutation_p.F237V|TNNT1_uc002qjd.3_Missense_Mutation_p.F237V NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 264 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) CACACTCACAACTTCTGGGCG 0.632000 PEG3 5178 broad.mit.edu 37 19 57326272 57326272 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:57326272C>T uc002qnu.2 - 7 3889 c.3538G>A c.(3538-3540)GAG>AAG p.E1180K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1151K|PEG3_uc002qnv.2_Missense_Mutation_p.E1180K|PEG3_uc002qnw.2_Missense_Mutation_p.E1056K|PEG3_uc002qnx.2_Missense_Mutation_p.E1054K|PEG3_uc010etr.2_Missense_Mutation_p.E1180K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1180 C2H2-type 7. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTCTGATGCTCGAAAAGGAAT 0.458000 PNPT1 87178 broad.mit.edu 37 2 55874501 55874501 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:55874501C>T uc002rzf.2 - 19 1636 c.1583G>A c.(1582-1584)CGT>CAT p.R528H PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 528 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGTCAGCAAACGATAATCTTC 0.289000 RETSAT 54884 broad.mit.edu 37 2 85571127 85571127 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:85571127C>A uc002spd.2 - 9 1719 c.1528G>T c.(1528-1530)GGG>TGG p.G510W RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.G449W|RETSAT_uc010fgf.2_Missense_Mutation_p.G301W NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 510 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) CCTACCTTCCCCTCCAGCTGT 0.542000 NEB 4703 broad.mit.edu 37 2 152483704 152483704 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:152483704C>G uc010fnx.2 - 66 9621 c.9430G>C c.(9430-9432)GAT>CAT p.D3144H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3144 Nebulin 85. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CACTGGAGATCAGATTTGTAA 0.393000 LRP2 4036 broad.mit.edu 37 2 170072858 170072858 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:170072858T>C uc002ues.2 - 35 5944 c.5731A>G c.(5731-5733)AAA>GAA p.K1911E NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1911 LDL-receptor class B 17.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AAGAGAGTTTTCACAGATGTG 0.493000 DNAH7 56171 broad.mit.edu 37 2 196729342 196729342 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:196729342C>G uc002utj.3 - 41 7138 c.7037G>C c.(7036-7038)GGA>GCA p.G2346A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2346 ATP (Potential).|AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGACTGCCTTCCACTCCCTCC 0.473000 CCNYL1 151195 broad.mit.edu 37 2 208611776 208611776 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:208611776C>T uc002vci.2 + 6 849 c.492C>T c.(490-492)TAC>TAT p.Y164Y CCNYL1_uc002vch.2_Silent_p.Y145Y NM_001142300 NP_001135772 Q8N7R7 CCYL1_HUMAN cyclin Y-like 1 isoform 1 215 Cyclin N-terminal. regulation of cyclin-dependent protein kinase activity protein kinase binding 0 LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14) TACAGGTTTACTTAGAAAGGC 0.318000 SIRPD 128646 broad.mit.edu 37 20 1517875 1517875 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr20:1517875G>A uc002wfi.2 - 3 547 c.503C>T c.(502-504)TCG>TTG p.S168L NM_178460 NP_848555 Q9H106 SIRPD_HUMAN signal-regulatory protein delta precursor 168 extracellular region ovary(1)|kidney(1)|skin(1) 3 AGGCAGGGCCGAGAGGCAGGT 0.597000 PTPN1 5770 broad.mit.edu 37 20 49197803 49197803 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr20:49197803A>G uc002xvl.2 + 9 1264 c.1090A>G c.(1090-1092)ATG>GTG p.M364V PTPN1_uc010zys.1_Missense_Mutation_p.M291V NM_002827 NP_002818 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 364 blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding 0 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) ATTCCTCAGCATGAGTCAAGA 0.532000 DIDO1 11083 broad.mit.edu 37 20 61542508 61542508 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr20:61542508C>T uc002ydr.1 - 3 721 c.457G>A c.(457-459)GAT>AAT p.D153N DIDO1_uc002yds.1_Missense_Mutation_p.D153N|DIDO1_uc002ydt.1_Missense_Mutation_p.D153N|DIDO1_uc002ydu.1_Missense_Mutation_p.D153N|DIDO1_uc002ydv.1_Missense_Mutation_p.D153N|DIDO1_uc002ydw.1_Missense_Mutation_p.D153N|DIDO1_uc002ydx.1_Missense_Mutation_p.D153N|DIDO1_uc011aao.1_Missense_Mutation_p.D153N NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 153 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CTGTCACTATCGGAGGTGTCA 0.572000 KCNQ2 3785 broad.mit.edu 37 20 62046361 62046361 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr20:62046361C>G uc002yey.1 - 13 1597 c.1420G>C c.(1420-1422)GAG>CAG p.E474Q KCNQ2_uc002yez.1_Missense_Mutation_p.E444Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.E456Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.E446Q NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 474 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GGGCTGTCCTCGAGGCTCTGG 0.692000 NCAM2 4685 broad.mit.edu 37 21 22656515 22656515 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr21:22656515G>T uc002yld.1 + 3 381 c.132G>T c.(130-132)GCG>GCT p.A44A NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Silent_p.A69A NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 44 Ig-like C2-type 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TCTTTGCAGCGATTGGTGAAC 0.328000 CSF2RB 1439 broad.mit.edu 37 22 37328890 37328890 + Missense_Mutation SNP G G A rs146404001 by1000genomes TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr22:37328890G>A uc003aqa.3 + 9 1313 c.1096G>A c.(1096-1098)GAA>AAA p.E366K CSF2RB_uc003aqc.3_Missense_Mutation_p.E372K NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 366 Extracellular (Potential).|Fibronectin type-III 2. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) AATGCGATACGAACACATAGA 0.567000 ADSL 158 broad.mit.edu 37 22 40754925 40754925 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr22:40754925C>T uc003ayp.3 + 5 599 c.540C>T c.(538-540)TGC>TGT p.C180C ADSL_uc003ays.3_Silent_p.C180C|ADSL_uc003ayq.3_Silent_p.C180C|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Silent_p.C165C|ADSL_uc010gyb.1_RNA NM_000026 NP_000017 P30566 PUR8_HUMAN adenylosuccinate lyase isoform a 180 AMP biosynthetic process|protein tetramerization|purine base metabolic process cytosol (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity ovary(1) 1 AGGATCTTTGCATGGATCTCC 0.532000 PLXNB2 23654 broad.mit.edu 37 22 50717049 50717049 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr22:50717049G>A uc003bkv.3 - 29 4729 c.4623C>T c.(4621-4623)CGC>CGT p.R1541R PLXNB2_uc003bkt.1_Silent_p.R333R|PLXNB2_uc003bku.1_Silent_p.R526R NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1541 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 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;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGGTGTTGACGCGCTTCCACC 0.667000 GMPS 8833 broad.mit.edu 37 3 155649637 155649637 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr3:155649637G>C uc003faq.2 + 13 1979 c.1644G>C c.(1642-1644)AGG>AGC p.R548S GMPS_uc011bom.1_Missense_Mutation_p.R449S NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 548 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCTGGCTAGGCTTATACCTC 0.428000 T MLL AML CRIPAK 285464 broad.mit.edu 37 4 1388392 1388392 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr4:1388392G>A uc003gdf.2 + 1 3053 c.93G>A c.(91-93)GAG>GAA p.E31E NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 31 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCCATGTGGAGTGCCCGCCTG 0.622000 FAM53A 152877 broad.mit.edu 37 4 1657119 1657119 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr4:1657119G>A uc011bve.1 - 4 666 c.468C>T c.(466-468)GGC>GGT p.G156G FAM53A_uc010ibw.2_Silent_p.G156G NM_001013622 NP_001013644 Q6NSI3 FA53A_HUMAN dorsal neural-tube nuclear protein 156 nucleus 0 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) TGGCACTCCCGCCGCTGTCGC 0.736000 PI4K2B 55300 broad.mit.edu 37 4 25256828 25256828 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr4:25256828G>A uc003grk.2 + 3 698 c.565G>A c.(565-567)GAA>AAA p.E189K PI4K2B_uc011bxs.1_Missense_Mutation_p.E93K NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 189 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding ovary(2)|skin(2) 4 Breast(46;0.173) GTACCTTTCCGAAGCGGGTGC 0.443000 CDH9 1007 broad.mit.edu 37 5 26903778 26903778 + Missense_Mutation SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:26903778C>A uc003jgs.1 - 6 1136 c.967G>T c.(967-969)GAT>TAT p.D323Y CDH9_uc010iug.2_Missense_Mutation_p.D323Y NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 323 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCCTGTGTATCCTTGTCAGTG 0.403000 RXFP3 51289 broad.mit.edu 37 5 33937437 33937437 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:33937437C>T uc003jic.1 + 1 949 c.592C>T c.(592-594)CGG>TGG p.R198W NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 198 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 AGGACACGGCCGGGGCGACTG 0.672000 AGXT2 64902 broad.mit.edu 37 5 35035360 35035360 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:35035360G>A uc003jjf.2 - 5 627 c.548C>T c.(547-549)GCG>GTG p.A183V AGXT2_uc011com.1_Missense_Mutation_p.A183V|AGXT2_uc011con.1_Missense_Mutation_p.A91V NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 183 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GTTTGAGTGCGCCCTGGCCAT 0.433000 SPEF2 79925 broad.mit.edu 37 5 35806993 35806993 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:35806993G>A uc003jjo.2 + 35 5306 c.5195G>A c.(5194-5196)AGT>AAT p.S1732N SPEF2_uc003jjp.1_Missense_Mutation_p.S1218N|SPEF2_uc003jjr.2_Missense_Mutation_p.S787N NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1732 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAGGGGGAAGTGAAGCACAG 0.393000 UGT3A2 167127 broad.mit.edu 37 5 36037997 36037997 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:36037997G>A uc003jjz.1 - 6 1290 c.1197C>T c.(1195-1197)GTC>GTT p.V399V UGT3A2_uc011cos.1_Silent_p.V365V|UGT3A2_uc011cot.1_Silent_p.V97V NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 399 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTTCTACTCGGACCATGTTTT 0.478000 CDC20B 166979 broad.mit.edu 37 5 54415675 54415675 + Silent SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:54415675C>A uc003jpo.1 - 11 1588 c.1413G>T c.(1411-1413)GTG>GTT p.V471V CDC20B_uc003jpn.1_Silent_p.V471V|CDC20B_uc010ivu.1_Silent_p.V429V NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 471 WD 6. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCCACACAGTCACATCATTCT 0.423000 ZNF366 167465 broad.mit.edu 37 5 71757315 71757315 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:71757315C>G uc003kce.1 - 2 195 c.9G>C c.(7-9)AAG>AAC p.K3N NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TCTTCATTTCCTTCTGCATCC 0.423000 GPR98 84059 broad.mit.edu 37 5 90024493 90024493 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:90024493G>A uc003kju.2 + 49 10265 c.10169G>A c.(10168-10170)AGG>AAG p.R3390K GPR98_uc003kjt.2_Missense_Mutation_p.R1096K|GPR98_uc003kjv.2_Missense_Mutation_p.R990K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3390 Extracellular (Potential).|EAR 3. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CAGGTCTTCAGGTGGAATGGA 0.433000 FER 2241 broad.mit.edu 37 5 108134020 108134020 + Nonsense_Mutation SNP T T A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:108134020T>A uc003kop.1 + 3 521 c.137T>A c.(136-138)TTA>TAA p.L46* FER_uc011cve.1_Intron|FER_uc011cvf.1_RNA|FER_uc003koq.2_Nonsense_Mutation_p.L46*|FER_uc011cvg.1_5'UTR NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 46 Important for interaction with membranes containing phosphoinositides.|FCH. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) GCATCTACTTTACAGAACCTT 0.328000 PCDHA11 56138 broad.mit.edu 37 5 140250469 140250469 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:140250469G>A uc003lia.2 + 1 2639 c.1781G>A c.(1780-1782)CGC>CAC p.R594H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R594H NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 594 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGAAGGTGCGCGCAGTGGAT 0.687000 UIMC1 51720 broad.mit.edu 37 5 176395935 176395936 + Missense_Mutation DNP AC AC CT TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr5:176395935_176395936AC>CT uc011dfp.1 - 6 987_988 c.820_821GT>AG c.(820-822)GTG>AGG p.V274R UIMC1_uc003mfc.1_Missense_Mutation_p.V151R|UIMC1_uc003mfd.1_Intron|UIMC1_uc003mfg.1_Intron|UIMC1_uc003mff.1_Intron NM_016290 NP_057374 Q96RL1 UIMC1_HUMAN ubiquitin interaction motif containing 1 274 AIR. double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent BRCA1-A complex histone binding|K63-linked polyubiquitin binding ovary(3)|skin(1) 4 all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) Medulloblastoma(196;0.0145)|all_neural(177;0.0325) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAAATAGTTCACAGTGCCCCCA 0.505000 CDYL 9425 broad.mit.edu 37 6 4937947 4937947 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr6:4937947G>T uc003mwi.2 + 6 1390 c.1259G>T c.(1258-1260)AGC>ATC p.S420I CDYL_uc003mwj.2_Missense_Mutation_p.S366I|CDYL_uc003mwk.2_Missense_Mutation_p.S131I|CDYL_uc011dhx.1_Missense_Mutation_p.S234I|CDYL_uc011dhy.1_Missense_Mutation_p.S234I NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 420 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AAAAGAGAAAGCACTAAAATG 0.403000 DNAH8 1769 broad.mit.edu 37 6 38840773 38840773 + Silent SNP G G T rs114719419 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr6:38840773G>T uc003ooe.1 + 49 7278 c.6678G>T c.(6676-6678)ACG>ACT p.T2226T NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 p.T2226M(1) skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 AAACTCTGACGTTAGCTAATG 0.428000 SNAP91 9892 broad.mit.edu 37 6 84371281 84371281 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr6:84371281A>C uc011dze.1 - 5 709 c.392T>G c.(391-393)TTG>TGG p.L131W SNAP91_uc003pkb.2_Missense_Mutation_p.L96W|SNAP91_uc003pkc.2_Missense_Mutation_p.L131W|SNAP91_uc003pkd.2_Missense_Mutation_p.L131W|SNAP91_uc003pka.2_Missense_Mutation_p.L131W|SNAP91_uc011dzf.1_Missense_Mutation_p.L12W NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 131 ENTH. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CTTTTCATTCAAATATCTACT 0.328000 NCOA7 135112 broad.mit.edu 37 6 126176272 126176272 + Missense_Mutation SNP G G C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr6:126176272G>C uc010kes.2 + 5 606 c.157G>C c.(157-159)GAC>CAC p.D53H NCOA7_uc003qae.3_Missense_Mutation_p.D53H|NCOA7_uc003qah.2_Missense_Mutation_p.D53H|NCOA7_uc003qai.2_Missense_Mutation_p.D53H|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.D53H|NCOA7_uc003qag.2_Missense_Mutation_p.D53H|NCOA7_uc003qaj.2_Missense_Mutation_p.D53H NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 53 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TTTAGAGCCAGACAAGTGCAA 0.378000 INMT 11185 broad.mit.edu 37 7 30795204 30795204 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:30795204C>T uc003tbs.1 + 3 545 c.529C>T c.(529-531)CGC>TGC p.R177C FAM188B_uc010kwe.2_Intron|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.R176C NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 177 cytoplasm amine N-methyltransferase activity 0 TGATGCCTACCGCGCTGCCCT 0.657000 GCK 2645 broad.mit.edu 37 7 44191983 44191983 + Missense_Mutation SNP A A C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:44191983A>C uc003tkl.2 - 3 720 c.250T>G c.(250-252)TTC>GTC p.F84V GCK_uc003tkj.1_Missense_Mutation_p.F83V|GCK_uc003tkk.1_Missense_Mutation_p.F85V NM_000162 NP_000153 P35557 HXK4_HUMAN glucokinase isoform 1 84 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding skin(3)|lung(1) 4 ATCACCCTGAAGTTAGTGCCA 0.597000 PON2 5445 broad.mit.edu 37 7 95035535 95035535 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:95035535C>G uc003unv.2 - 8 923 c.802G>C c.(802-804)GAT>CAT p.D268H PON2_uc003unu.2_Missense_Mutation_p.D256H|PON2_uc010lfk.2_RNA|PON2_uc003unw.2_Missense_Mutation_p.D181H NM_000305 NP_000296 Q15165 PON2_HUMAN paraoxonase 2 isoform 1 268 Calcium 1; catalytic (By similarity). aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding 0 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) GATAAATTATCCACCAGTGTA 0.428000 DUS4L 11062 broad.mit.edu 37 7 107214184 107214184 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:107214184G>A uc003veh.2 + 5 607 c.274G>A c.(274-276)GAT>AAT p.D92N DUS4L_uc003veg.2_Intron|DUS4L_uc011klw.1_Intron|DUS4L_uc011klx.1_5'UTR|DUS4L_uc010ljl.2_5'Flank NM_181581 NP_853559 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like 92 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 TGCTGCTAACGATGCAAGACT 0.403000 CPA5 93979 broad.mit.edu 37 7 130008389 130008389 + Missense_Mutation SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:130008389G>T uc010lmd.1 + 14 1882 c.1262G>T c.(1261-1263)TGG>TTG p.W421L CPA5_uc003vps.2_Missense_Mutation_p.W421L|CPA5_uc003vpt.2_Nonsense_Mutation_p.G393*|CPA5_uc010lme.1_Missense_Mutation_p.W421L|CPA5_uc003vpu.1_Missense_Mutation_p.W421L|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 421 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) CAGGAGACGTGGATGGCGCTT 0.607000 CLCN1 1180 broad.mit.edu 37 7 143027909 143027909 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:143027909C>T uc003wcr.1 + 8 985 c.898C>T c.(898-900)CGG>TGG p.R300W CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_RNA|CLCN1_uc010lox.1_RNA|CLCN1_uc010loy.1_Silent_p.F95F NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 300 R -> Q. muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) CTTTGCTGTTCGGAACTACTG 0.557000 KCNH2 3757 broad.mit.edu 37 7 150648871 150648871 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:150648871C>T uc003wic.2 - 7 1623 c.1610G>A c.(1609-1611)CGG>CAG p.R537Q KCNH2_uc003wib.2_Missense_Mutation_p.R197Q|KCNH2_uc011kux.1_Missense_Mutation_p.R441Q|KCNH2_uc003wid.2_Missense_Mutation_p.R197Q|KCNH2_uc003wie.2_Missense_Mutation_p.R537Q NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 537 Helical; Voltage-sensor; Name=Segment S4; (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ATCCAGCTTCCGCGCCACGCG 0.657000 GALNT11 63917 broad.mit.edu 37 7 151805280 151805280 + Silent SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr7:151805280C>T uc010lqg.1 + 6 1100 c.870C>T c.(868-870)GTC>GTT p.V290V GALNT11_uc011kvm.1_Silent_p.V209V|GALNT11_uc003wku.2_Silent_p.V290V|GALNT11_uc011kvn.1_RNA|GALNT11_uc003wkw.1_Silent_p.V38V NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 290 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CCCCTGTCGTCCGCGGAGGGT 0.602000 DLC1 10395 broad.mit.edu 37 8 12957702 12957702 + Missense_Mutation SNP T T C TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:12957702T>C uc003wwm.2 - 9 2588 c.2144A>G c.(2143-2145)GAG>GGG p.E715G DLC1_uc003wwk.1_Missense_Mutation_p.E278G|DLC1_uc003wwl.1_Missense_Mutation_p.E312G|DLC1_uc011kxx.1_Missense_Mutation_p.E204G NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 715 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GGCGGAGATCTCCACGCAGTT 0.582000 TUSC3 7991 broad.mit.edu 37 8 15397991 15397991 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:15397991C>T uc003wwt.2 + 1 262 c.52C>T c.(52-54)CGG>TGG p.R18W TUSC3_uc003wwr.2_Missense_Mutation_p.R18W|TUSC3_uc003wws.2_Missense_Mutation_p.R18W|TUSC3_uc003wwu.2_Missense_Mutation_p.R18W|TUSC3_uc003wwv.2_Missense_Mutation_p.R18W|TUSC3_uc003www.2_Missense_Mutation_p.R18W|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.R18W NM_006765 NP_006756 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 isoform a 18 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex ovary(2)|central_nervous_system(1) 3 Colorectal(111;0.113) GCGGCGGCTGCGGTACCTGCC 0.687000 UNC5D 137970 broad.mit.edu 37 8 35541183 35541183 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:35541183C>T uc003xjr.1 + 5 1017 c.689C>T c.(688-690)ACC>ATC p.T230I UNC5D_uc003xjs.1_Missense_Mutation_p.T225I|UNC5D_uc003xjt.1_5'UTR NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 230 Extracellular (Potential).|Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGAAATTACACCTGCATGGCA 0.537000 MRPL15 29088 broad.mit.edu 37 8 55060008 55060008 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:55060008C>T uc003xsa.2 + 5 683 c.620C>T c.(619-621)CCA>CTA p.P207L NM_014175 NP_054894 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 precursor 207 translation large ribosomal subunit|mitochondrion structural constituent of ribosome 0 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) ATGCTTCCACCAGAAGAACTG 0.413000 CA3 761 broad.mit.edu 37 8 86360349 86360349 + Missense_Mutation SNP C C G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:86360349C>G uc003ydj.2 + 7 833 c.750C>G c.(748-750)ATC>ATG p.I250M CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 250 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 CACAGCCTATCAATAACAGGG 0.562000 NECAB1 64168 broad.mit.edu 37 8 91940518 91940518 + Silent SNP G G T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:91940518G>T uc011lgg.1 + 8 878 c.684G>T c.(682-684)CTG>CTT p.L228L NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 228 Potential. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) TTGATAGACTGGAAAAGAAGG 0.403000 ZFPM2 23414 broad.mit.edu 37 8 106815129 106815129 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:106815129A>G uc003ymd.2 + 8 2842 c.2819A>G c.(2818-2820)CAA>CGA p.Q940R ZFPM2_uc011lhs.1_Missense_Mutation_p.Q671R NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 940 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCAACCCTGCAAGGCTTGAAG 0.413000 ZNF572 137209 broad.mit.edu 37 8 125990059 125990059 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:125990059C>T uc003yrr.2 + 3 1704 c.1549C>T c.(1549-1551)CCC>TCC p.P517S NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGGGGAAATGCCCTTCATCTC 0.438000 HNSCC(60;0.17) GPT 2875 broad.mit.edu 37 8 145731400 145731400 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr8:145731400C>T uc011lli.1 + 8 999 c.842C>T c.(841-843)GCC>GTC p.A281V GPT_uc011llj.1_Silent_p.R303R|GPT_uc003zdh.3_Missense_Mutation_p.A281V NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 281 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AACGTGTACGCCGCGGGTTCG 0.677000 SETX 23064 broad.mit.edu 37 9 135202659 135202660 + Nonsense_Mutation DNP AC AC CT TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr9:135202659_135202660AC>CT uc004cbk.2 - 10 4508_4509 c.4325_4326GT>AG c.(4324-4326)TGT>TAG p.C1442* SETX_uc004cbj.2_Nonsense_Mutation_p.C1061*|SETX_uc010mzt.2_Nonsense_Mutation_p.C1061* NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1442 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTACAGAATCACACTGGTTCAA 0.416000 USP11 8237 broad.mit.edu 37 X 47092439 47092439 + Silent SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:47092439G>A uc004dhp.2 + 1 126 c.126G>A c.(124-126)ACG>ACA p.T42T NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 42 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 GAGAACGgacggcgatggcga 0.383000 AR 367 broad.mit.edu 37 X 66765885 66765885 + Silent SNP A A T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:66765885A>T uc004dwu.1 + 1 2012 c.897A>T c.(895-897)GCA>GCT p.A299A AR_uc011mpd.1_Silent_p.A299A|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.A299A NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 297 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) ACGACAGCGCAGGCAAGAGCA 0.567000 Androgen_Insensitivity_Syndrome NAP1L2 4674 broad.mit.edu 37 X 72432992 72432992 + Missense_Mutation SNP G G A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:72432992G>A uc004ebi.2 - 1 1693 c.1337C>T c.(1336-1338)GCT>GTT p.A446V NAP1L2_uc011mqj.1_Missense_Mutation_p.A304V NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 446 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) TTTGCAACAAGCTTTAACTTC 0.378000 CDX4 1046 broad.mit.edu 37 X 72667379 72667379 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:72667379C>T uc011mqk.1 + 1 290 c.290C>T c.(289-291)CCG>CTG p.P97L NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 97 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) GGCACAGTGCCGGTGAACGAC 0.642000 CYSLTR1 10800 broad.mit.edu 37 X 77529219 77529219 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:77529219C>T uc004edb.2 - 3 425 c.25G>A c.(25-27)GTA>ATA p.V9I CYSLTR1_uc010nma.2_Missense_Mutation_p.V9I|CYSLTR1_uc010nmb.2_Missense_Mutation_p.V9I NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 9 Extracellular (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) GCAGAAGATACTGTCAGATTT 0.363000 COL4A6 1288 broad.mit.edu 37 X 107412759 107412759 + Silent SNP C C A TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:107412759C>A uc004enw.3 - 37 3763 c.3660G>T c.(3658-3660)GGG>GGT p.G1220G COL4A6_uc004env.3_Silent_p.G1219G|COL4A6_uc011msn.1_Silent_p.G1195G|COL4A6_uc010npk.2_Silent_p.G1195G NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 1220 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GGCCCGGCTTCCCTGGAGCTC 0.572000 Alport_syndrome_with_Diffuse_Leiomyomatosis HTR2C 3358 broad.mit.edu 37 X 114141785 114141785 + Missense_Mutation SNP T T A rs151266355 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:114141785T>A uc004epu.1 + 6 1912 c.1184T>A c.(1183-1185)GTC>GAC p.V395D HTR2C_uc010nqc.1_Missense_Mutation_p.V395D|HTR2C_uc004epv.1_3'UTR NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 395 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) AAGCCTCCTGTCAGGCAGATT 0.443000 DCAF12L2 340578 broad.mit.edu 37 X 125299259 125299259 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:125299259C>T uc004euk.1 - 1 676 c.649G>A c.(649-651)GTG>ATG p.V217M NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 217 WD 2. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CACAGAGCCACGGTGCCGTCG 0.637000 MOSPD1 56180 broad.mit.edu 37 X 134025640 134025640 + Missense_Mutation SNP A A G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:134025640A>G uc004eyb.2 - 5 666 c.479T>C c.(478-480)TTA>TCA p.L160S MOSPD1_uc004eya.2_Intron|MOSPD1_uc010nrv.2_RNA NM_019556 NP_062456 Q9UJG1 MSPD1_HUMAN motile sperm domain containing 1 160 Helical; (Potential). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter integral to membrane|nucleus|perinuclear region of cytoplasm structural molecule activity ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(192;0.000127) GACAGTTAGTAAACTAGGTCC 0.453000 MAP7D3 79649 broad.mit.edu 37 X 135314089 135314089 + Missense_Mutation SNP C C T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:135314089C>T uc004ezt.2 - 8 1118 c.1027G>A c.(1027-1029)GTG>ATG p.V343M MAP7D3_uc004ezs.2_Missense_Mutation_p.V307M|MAP7D3_uc011mwc.1_Missense_Mutation_p.V325M|MAP7D3_uc010nsa.1_Missense_Mutation_p.V301M NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 343 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) GACACGTCCACGCTCACCACA 0.567000 MAGEA10 4109 broad.mit.edu 37 X 151303170 151303170 + Missense_Mutation SNP T T G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:151303170T>G uc004ffk.2 - 5 1331 c.923A>C c.(922-924)AAG>ACG p.K308T MAGEA10_uc004ffl.2_Missense_Mutation_p.K308T NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 308 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) GAGACTCATCTTCCTAATTTC 0.507000 SLC10A3 8273 broad.mit.edu 37 X 153716440 153716440 + Silent SNP G G A rs151043660 TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chrX:153716440G>A uc004flq.2 - 3 1104 c.840C>T c.(838-840)GAC>GAT p.D280D UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.D251D|SLC10A3_uc004flp.2_Silent_p.D280D NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 280 organic anion transport integral to membrane bile acid:sodium symporter activity p.D280N(1) ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCAGGGTGACGTCCCCTCCAA 0.622000 MYH10 4628 broad.mit.edu 37 17 8398465 8398466 + In_Frame_Ins INS - - GTA TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:8398465_8398466insGTA uc002gll.2 - 29 4048_4049 c.3952_3953insTAC c.(3952-3954)CAG>CTACAG p.1317_1318insL MYH10_uc002glm.2_In_Frame_Ins_p.1348_1349insL|MYH10_uc010cnx.2_In_Frame_Ins_p.1326_1327insL NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1317_1318 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CTGTGTATCCTGTAGTTGAGAC 0.416 SRBD1 55133 broad.mit.edu 37 2 45620206 45620207 + Frame_Shift_Ins INS - - T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:45620206_45620207insT uc002rus.2 - 20 2651_2652 c.2575_2576insA c.(2575-2577)ATAfs p.I859fs SRBD1_uc010yoc.1_Frame_Shift_Ins_p.I378fs NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 859 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAATGAATTTATTTTTTGTTGC 0.386 BCAN 63827 broad.mit.edu 37 1 156616753 156616756 + Frame_Shift_Del DEL GGGC GGGC - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr1:156616752_156616755GGGGC>G uc001fpp.3 + 2 587_590 c.251_254GGGGC>G c.(250-255)cggggcfs p.R84fs BCAN_uc001fpo.3_Frame_Shift_Del_p.R84fs NM_021948 NP_068767 Q96GW7 PGCB_HUMAN Homo sapiens brevican (BCAN), transcript variant 1, mRNA. 84 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCTGTCCCGGGGCCGGGAGGCA 0.716 SRBD1 55133 broad.mit.edu 37 2 45620207 45620208 + Frame_Shift_Ins INS - - T TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr2:45620206_45620207A>AT uc002rus.3 - 19 2651_2652 c.2575_2576T>AT c.(2575-2577)atafs p.I859fs SRBD1_uc010yoc.2_Frame_Shift_Ins_p.I378fs NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA. 859 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process RNA binding|hydrolase activity, acting on ester bonds NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GAATGAATTTATTTTTTGTTGC 0.386 MYH10 4628 broad.mit.edu 37 17 8398466 8398467 + In_Frame_Ins INS - - GTA TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr17:8398465_8398466T>TGTA uc002glm.3 - 30 4141_4142 c.4045_4046A>TACA c.(4045-4047)cag>TACAg p.Q1349Y MYH10_uc002gll.3_In_Frame_Ins_p.Q1318Y|MYH10_uc010cnx.3_In_Frame_Ins_p.Q1327Y NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1318 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTGTGTATCCTGTAGTTGAGAC 0.416 GRP 2922 broad.mit.edu 37 18 56892756 56892758 + In_Frame_Del DEL TCT TCT - TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr18:56892755_56892757GTCT>G uc002lhv.3 + 1 269_271 c.171_173GTCT>G c.(169-174)gagtct>gaGt p.S60del GRP_uc002lhu.3_In_Frame_Del_p.S60del|GRP_uc002lhw.3_In_Frame_Del_p.S60del NM_002091 NP_002082 P07492 GRP_HUMAN Homo sapiens gastrin-releasing peptide (GRP), transcript variant 1, mRNA. 60 neuropeptide signaling pathway extracellular space neuropeptide hormone activity large_intestine(1)|lung(3) 4 Colorectal(73;0.0946) GCACAGGGGAGTCTTCTTCTGTT 0.429 ZSCAN18 65982 broad.mit.edu 37 19 58600101 58600102 + Frame_Shift_Ins INS - - G TCGA-BR-8077-01A-11D-2340-08 TCGA-BR-8077-10A-01D-2340-08 Untested Somatic Phase_I WXS none Illumina GAIIx 141af187-b767-4e25-8b46-dfa8618b1794 4ff305bd-6a6a-4583-a89c-ddab140a042d g.chr19:58600100_58600101T>TG uc010yht.1 - 2 705_706 c.675_676A>CA c.(673-678)cccagcfs p.P225fs ZSCAN18_uc002qrj.3_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc010yhs.1_Frame_Shift_Ins_p.P34fs|ZSCAN18_uc002qrh.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qri.2_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrk.1_Frame_Shift_Ins_p.P169fs|ZSCAN18_uc002qrl.2_Frame_Shift_Ins_p.P169fs NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 169 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGGGCCTGGCTGGGGCTCGCGA 0.649