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 MEGF6 1953 broad.mit.edu 37 1 3427384 3427384 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:3427384G>A uc001akl.2 - 10 1424 c.1197C>T c.(1195-1197)GCC>GCT p.A399A MEGF6_uc001akk.2_Silent_p.A294A NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 399 EGF-like 7. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGGTAGCCGGCGTAGCAGC 0.672000 PER3 8863 broad.mit.edu 37 1 7886602 7886602 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:7886602T>C uc001aoo.2 + 16 2171 c.1996T>C c.(1996-1998)TCG>CCG p.S666P PER3_uc009vmg.1_Missense_Mutation_p.S674P|PER3_uc009vmh.1_Missense_Mutation_p.S667P|PER3_uc001aop.2_Missense_Mutation_p.S674P|PER3_uc010nzw.1_Missense_Mutation_p.S355P NM_016831 NP_058515 P56645 PER3_HUMAN period 3 666 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CCCTTTGACCTCGGAAGAATT 0.478000 DLGAP3 58512 broad.mit.edu 37 1 35369893 35369893 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:35369893A>G uc001byc.2 - 1 1092 c.1092T>C c.(1090-1092)ACT>ACC p.T364T NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 364 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GATAGTGATAAGTCCTGGCTT 0.602000 MRPS15 64960 broad.mit.edu 37 1 36926911 36926911 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:36926911A>G uc001cas.2 - 4 418 c.254T>C c.(253-255)GTT>GCT p.V85A NM_031280 NP_112570 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 precursor 85 translation mitochondrial small ribosomal subunit|nuclear membrane structural constituent of ribosome ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GACATCATCAACCCTGTGGAT 0.453000 ZNF643 65243 broad.mit.edu 37 1 40929053 40929053 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:40929053A>G uc001cfn.1 + 5 1694 c.1397A>G c.(1396-1398)CAG>CGG p.Q466R ZNF643_uc001cfl.1_Missense_Mutation_p.Q364R|ZNF643_uc001cfm.1_Missense_Mutation_p.Q332R NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 466 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TCTATCCATCAGAGAGTCCAT 0.393000 PGM1 5236 broad.mit.edu 37 1 64100648 64100648 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:64100648G>A uc001dbh.2 + 5 1044 c.831G>A c.(829-831)AAG>AAA p.K277K PGM1_uc010ooy.1_Silent_p.K80K|PGM1_uc010ooz.1_Silent_p.K295K NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 277 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 AGACCATGAAGTCAGGAGAGC 0.552000 WDR63 126820 broad.mit.edu 37 1 85551632 85551632 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:85551632A>C uc001dkt.2 + 7 850 c.659A>C c.(658-660)AAT>ACT p.N220T WDR63_uc009wcl.2_Missense_Mutation_p.N220T NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 220 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CCAGATAAAAATTTTACCCTT 0.378000 NGF 4803 broad.mit.edu 37 1 115828920 115828920 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:115828920T>G uc001efu.1 - 3 666 c.497A>C c.(496-498)AAC>ACC p.N166T NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 166 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TACACTGTTGTTAATGTTCAC 0.522000 POGZ 23126 broad.mit.edu 37 1 151384863 151384863 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:151384863T>G uc001eyd.1 - 11 1994 c.1688A>C c.(1687-1689)AAG>ACG p.K563T POGZ_uc001eye.1_Missense_Mutation_p.K510T|POGZ_uc010pdb.1_Missense_Mutation_p.K554T|POGZ_uc001eyf.1_Missense_Mutation_p.K510T|POGZ_uc010pdc.1_Missense_Mutation_p.K501T|POGZ_uc009wmv.1_Missense_Mutation_p.K468T|POGZ_uc010pdd.1_Missense_Mutation_p.K54T NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 563 C2H2-type 4. 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) TTCACAGATCTTGCACTTGGC 0.393000 TCHH 7062 broad.mit.edu 37 1 152080591 152080591 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:152080591C>T uc001ezp.2 - 2 5102 c.5102G>A c.(5101-5103)CGC>CAC p.R1701H TCHH_uc009wne.1_Missense_Mutation_p.R1701H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1701 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCTGACGGCGGAGCTGCTG 0.567000 SH2D2A 9047 broad.mit.edu 37 1 156779580 156779580 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:156779580A>G uc001fqd.2 - 6 727 c.587T>C c.(586-588)CTT>CCT p.L196P SH2D2A_uc001fqc.1_Missense_Mutation_p.L168P|SH2D2A_uc009wsh.2_Missense_Mutation_p.L206P|SH2D2A_uc001fqe.2_Missense_Mutation_p.L178P|SH2D2A_uc010phs.1_Missense_Mutation_p.L196P NM_003975 NP_003966 Q9NP31 SH22A_HUMAN SH2 domain protein 2A isoform 2 196 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity 0 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCTCAGGGAAAGTCCTGCAGG 0.557000 FCRL3 115352 broad.mit.edu 37 1 157668201 157668201 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:157668201C>T uc001frb.2 - 4 563 c.271G>A c.(271-273)GAT>AAT p.D91N FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.D91N|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Missense_Mutation_p.D91N NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 91 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TGCACGGCATCACTGAGGGAG 0.473000 DYRK3 8444 broad.mit.edu 37 1 206821103 206821103 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:206821103A>C uc001hej.2 + 3 728 c.560A>C c.(559-561)AAT>ACT p.N187T DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.N167T NM_003582 NP_003573 O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 187 erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|central_nervous_system(1) 3 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) GGTCCCAATAATGGAGGGTAT 0.398000 GPATCH2 55105 broad.mit.edu 37 1 217793304 217793304 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:217793304G>A uc001hlf.1 - 2 690 c.594C>T c.(592-594)GCC>GCT p.A198A GPATCH2_uc001hlg.3_Silent_p.A198A NM_018040 NP_060510 Q9NW75 GPTC2_HUMAN G patch domain containing 2 198 intracellular nucleic acid binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GATACTGGTAGGCTCTATCAC 0.408000 LYST 1130 broad.mit.edu 37 1 235918837 235918837 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:235918837T>G uc001hxj.2 - 25 7345 c.7170A>C c.(7168-7170)CAA>CAC p.Q2390H LYST_uc009xga.1_5'Flank NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2390 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTAACAATTCTTGAGTTCCTC 0.373000 Chediak-Higashi_syndrome ZP4 57829 broad.mit.edu 37 1 238049070 238049070 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:238049070A>C uc001hym.2 - 7 956 c.956T>G c.(955-957)CTT>CGT p.L319R LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 319 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGCAATCTGAAGTTCCAGAGT 0.498000 OR2L8 391190 broad.mit.edu 37 1 248113081 248113081 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr1:248113081T>C uc001idt.1 + 1 922 c.922T>C c.(922-924)TGC>CGC p.C308R OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCAGAGAATCTGCTCTGTGAA 0.448000 NEBL 10529 broad.mit.edu 37 10 21139351 21139351 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:21139351T>G uc001iqi.2 - 11 1486 c.1089A>C c.(1087-1089)TCA>TCC p.S363S NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 363 Nebulin 10. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 GAGCCTCCTTTGAAGCTTGAT 0.318000 PGBD3 267004 broad.mit.edu 37 10 50724274 50724274 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:50724274T>G uc001jht.2 - 2 1142 c.887A>C c.(886-888)AAG>ACG p.K296T ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.K764T|PGBD3_uc001jhu.2_Missense_Mutation_p.K764T NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 296 pancreas(1)|breast(1)|skin(1) 3 ACACCAAAACTTATAGCCAAA 0.433000 PCDH15 65217 broad.mit.edu 37 10 55700715 55700715 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:55700715A>G uc001jju.1 - 24 3538 c.3143T>C c.(3142-3144)CTT>CCT p.L1048P PCDH15_uc010qhq.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhr.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhs.1_Missense_Mutation_p.L1060P|PCDH15_uc010qht.1_Missense_Mutation_p.L1055P|PCDH15_uc010qhu.1_Missense_Mutation_p.L1048P|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L1048P|PCDH15_uc010qhw.1_Missense_Mutation_p.L1011P|PCDH15_uc010qhx.1_Missense_Mutation_p.L977P|PCDH15_uc010qhy.1_Missense_Mutation_p.L1053P|PCDH15_uc010qhz.1_Missense_Mutation_p.L1048P|PCDH15_uc010qia.1_Missense_Mutation_p.L1026P|PCDH15_uc010qib.1_Missense_Mutation_p.L1026P NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1048 Cadherin 10.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTTGGTGGCAAGTTCACTTAC 0.308000 HNSCC(58;0.16) ARHGAP19 84986 broad.mit.edu 37 10 99019212 99019212 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:99019212A>C uc001knb.2 - 5 816 c.787T>G c.(787-789)TCA>GCA p.S263A ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.S254A|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.S263A|ARHGAP19_uc009xvk.2_Missense_Mutation_p.S57A NM_032900 NP_116289 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 263 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity 0 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) TTATAGGCTGACATCTTGTTC 0.438000 CPN1 1369 broad.mit.edu 37 10 101802248 101802248 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:101802248T>G uc001kql.2 - 9 1573 c.1313A>C c.(1312-1314)AAA>ACA p.K438T NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 438 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) GGGCTGCACTTTGGCTCTGAC 0.527000 LBX1 10660 broad.mit.edu 37 10 102987446 102987446 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:102987446G>A uc001ksx.2 - 2 572 c.427C>T c.(427-429)CGC>TGC p.R143C uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 143 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) TATAGAAAGCGCTTTTCCAAT 0.582000 NOLC1 9221 broad.mit.edu 37 10 103919991 103919991 + Missense_Mutation SNP T T G rs151088360 byFrequency TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:103919991T>G uc001kuo.2 + 9 1225 c.990T>G c.(988-990)GAT>GAG p.D330E NOLC1_uc001kup.2_Missense_Mutation_p.D340E|NOLC1_uc001kuq.2_Missense_Mutation_p.D331E|NOLC1_uc009xxb.1_Missense_Mutation_p.D49E|NOLC1_uc001kur.2_Missense_Mutation_p.D49E NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 330 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) TCTCCTCAGATTCAAGTTCTG 0.473000 PSD 5662 broad.mit.edu 37 10 104164417 104164417 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:104164417G>T uc001kvg.1 - 15 3150 c.2623C>A c.(2623-2625)CCC>ACC p.P875T PSD_uc001kve.1_Missense_Mutation_p.P83T|PSD_uc001kvf.1_Missense_Mutation_p.P244T|PSD_uc001kvh.1_Missense_Mutation_p.P496T|PSD_uc009xxd.1_Missense_Mutation_p.P875T NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 875 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCTGGGAAGGGGGGCGCAGAG 0.612000 TRIM8 81603 broad.mit.edu 37 10 104416988 104416988 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:104416988C>T uc001kvz.2 + 6 1656 c.1533C>T c.(1531-1533)TCC>TCT p.S511S NM_030912 NP_112174 Q9BZR9 TRIM8_HUMAN tripartite motif-containing 8 511 cytoplasm|PML body ligase activity|protein homodimerization activity|zinc ion binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCACACCCTCCGTCCCCCAGT 0.682000 PNLIPRP3 119548 broad.mit.edu 37 10 118236234 118236234 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:118236234A>C uc001lcl.3 + 11 1344 c.1243A>C c.(1243-1245)AGT>CGT p.S415R NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 415 PLAT. lipid catabolic process extracellular region triglyceride lipase activity p.S415C(1) ovary(1) 1 all cancers(201;0.0131) AAACATTACAAGTGTTCAGTT 0.338000 SLC18A2 6571 broad.mit.edu 37 10 119003515 119003515 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:119003515A>C uc001ldd.1 + 3 186 c.155A>C c.(154-156)AAG>ACG p.K52T SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 52 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TACAGCATTAAGCATGAGAAG 0.488000 TACC2 10579 broad.mit.edu 37 10 123843481 123843481 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr10:123843481T>C uc001lfv.2 + 4 1826 c.1466T>C c.(1465-1467)GTT>GCT p.V489A TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.V489A|TACC2_uc010qtv.1_Missense_Mutation_p.V489A NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 489 Pro-rich. microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTGGAGAGGTTCCTGCCCCA 0.597000 CARS 833 broad.mit.edu 37 11 3040369 3040369 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:3040369C>T uc001lxh.2 - 11 1220 c.1146G>A c.(1144-1146)GAG>GAA p.E382E CARS_uc001lxe.2_Silent_p.E372E|CARS_uc001lxf.2_Silent_p.E465E|CARS_uc001lxg.2_Silent_p.E382E|CARS_uc010qxo.1_Silent_p.E465E|CARS_uc010qxp.1_Silent_p.E395E NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 382 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) TTTCACCTACCTCCGACTGTG 0.582000 T ALK ALCL OR52K2 119774 broad.mit.edu 37 11 4471192 4471192 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:4471192T>G uc001lyz.1 + 1 623 c.623T>G c.(622-624)ATT>AGT p.I208S NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCATGTTTATTGTGGTGTTG 0.502000 OR56A3 390083 broad.mit.edu 37 11 5969389 5969389 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:5969389A>C uc010qzt.1 + 1 813 c.813A>C c.(811-813)AAA>AAC p.K271N NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAAGAAGAAAGTCTCCCCTG 0.493000 LRP4 4038 broad.mit.edu 37 11 46896598 46896598 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:46896598G>A uc001ndn.3 - 28 4128 c.3982C>T c.(3982-3984)CCT>TCT p.P1328S NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 1328 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) AAGCCAGAAGGCCGAGGCAAG 0.572000 OR4C6 219432 broad.mit.edu 37 11 55433389 55433390 + Missense_Mutation DNP TG TG AT rs75211559 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:55433389_55433390TG>AT uc001nht.3 + 3 1012_1013 c.747_748TG>AT c.(745-750)TTTGTC>TTATTC p.249_250FV>LF OR4C6_uc010rik.1_Missense_Mutation_p.249_250FV>LF NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 249_250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TATTGTTCTTTGTCCCCTGTAT 0.500000 OR5D14 219436 broad.mit.edu 37 11 55563569 55563569 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:55563569T>C uc010rim.1 + 1 538 c.538T>C c.(538-540)TTT>CTT p.F180L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CAACCACTTCTTTTGTGAGTA 0.478000 OR5T2 219464 broad.mit.edu 37 11 55999756 55999756 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:55999756A>C uc010rjc.1 - 1 906 c.906T>G c.(904-906)AGT>AGG p.S302R NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 302 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CATAGCTGGAACTTGGTCTCA 0.433000 MS4A6A 64231 broad.mit.edu 37 11 59949151 59949151 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:59949151T>G uc001nor.2 - 2 288 c.50A>C c.(49-51)AAT>ACT p.N17T MS4A6A_uc001noq.2_Missense_Mutation_p.N17T|MS4A6A_uc001nos.3_Missense_Mutation_p.N45T|MS4A6A_uc009ymv.2_Missense_Mutation_p.N17T|MS4A6A_uc001not.2_Missense_Mutation_p.N17T|MS4A6A_uc010rla.1_Missense_Mutation_p.N45T|MS4A6A_uc010rlb.1_Missense_Mutation_p.N17T NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 17 Cytoplasmic (Potential). integral to membrane receptor activity 0 GTTGATGACATTTGATGGGAG 0.423000 MS4A10 341116 broad.mit.edu 37 11 60561521 60561521 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:60561521T>C uc001npz.1 + 5 533 c.437T>C c.(436-438)CTC>CCC p.L146P NM_206893 NP_996776 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 146 Extracellular (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 TCCAAGGATCTCTTTCTGGAG 0.517000 NUMA1 4926 broad.mit.edu 37 11 71724063 71724063 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:71724063G>A uc001orl.1 - 15 4658 c.4486C>T c.(4486-4488)CGA>TGA p.R1496* NUMA1_uc009ysw.1_Nonsense_Mutation_p.R1059*|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001orn.2_Nonsense_Mutation_p.R1059*|NUMA1_uc009ysx.1_Nonsense_Mutation_p.R1496*|NUMA1_uc001oro.1_Nonsense_Mutation_p.R1496* NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1496 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TGTGCTTCTCGCTGCACCTCA 0.597000 T RARA APL GPR83 10888 broad.mit.edu 37 11 94113847 94113847 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:94113847A>T uc001pet.2 - 4 912 c.740T>A c.(739-741)CTC>CAC p.L247H NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 247 Helical; Name=5; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAGGATGTAGAGCAGGATGAA 0.567000 USP28 57646 broad.mit.edu 37 11 113674571 113674571 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr11:113674571C>T uc001poh.2 - 22 2720 c.2687G>A c.(2686-2688)CGA>CAA p.R896Q USP28_uc001pog.2_Missense_Mutation_p.R572Q|USP28_uc010rwy.1_Missense_Mutation_p.R739Q|USP28_uc001poi.2_Missense_Mutation_p.R219Q NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 896 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AGACACTTTTCGGAACAAACT 0.333000 A2ML1 144568 broad.mit.edu 37 12 8998053 8998053 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:8998053A>C uc001quz.3 + 13 1590 c.1492A>C c.(1492-1494)AGT>CGT p.S498R A2ML1_uc001qva.1_Missense_Mutation_p.S78R|A2ML1_uc010sgm.1_5'UTR NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 342 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 AGGGAAAGGAAGTTTGGTGAT 0.398000 LRRK2 120892 broad.mit.edu 37 12 40716140 40716140 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:40716140A>C uc001rmg.3 + 37 5458 c.5337A>C c.(5335-5337)CAA>CAC p.Q1779H LRRK2_uc009zjw.2_Missense_Mutation_p.Q617H|LRRK2_uc001rmi.2_Missense_Mutation_p.Q612H NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1779 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTTGGGCCAAGTTGTGGACC 0.393000 TMEM117 84216 broad.mit.edu 37 12 44782372 44782372 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:44782372T>G uc001rod.2 + 8 1528 c.1462T>G c.(1462-1464)TTG>GTG p.L488V TMEM117_uc001roe.2_Missense_Mutation_p.L384V|TMEM117_uc009zkc.2_3'UTR NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 488 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) CTCGGAAAACTTGAGCTCACA 0.453000 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:56478854G>T uc001sjh.2 + 3 503 c.310G>T c.(310-312)GTG>TTG p.V104L ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517000 ESYT1 23344 broad.mit.edu 37 12 56525562 56525562 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:56525562C>T uc001sjq.2 + 7 884 c.834C>T c.(832-834)ACC>ACT p.T278T ESYT1_uc001sjr.2_Silent_p.T278T NM_015292 NP_056107 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 278 integral to membrane ovary(4)|skin(1) 5 CAGGGATGACCAACCTGCTGG 0.338000 MYF6 4618 broad.mit.edu 37 12 81101582 81101582 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:81101582A>G uc001szf.1 + 1 137 c.84A>G c.(82-84)GCA>GCG p.A28A NM_002469 NP_002460 P23409 MYF6_HUMAN myogenic factor 6 28 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 TAGAAGTGGCAGAAGGCTCTC 0.527000 NR1H4 9971 broad.mit.edu 37 12 100904824 100904824 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:100904824G>A uc001tht.1 + 2 406 c.378G>A c.(376-378)GCG>GCA p.A126A NR1H4_uc001thp.1_Silent_p.A116A|NR1H4_uc001thq.1_Silent_p.A116A|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.A116A|NR1H4_uc010svk.1_Silent_p.A116A|NR1H4_uc001ths.1_Silent_p.A126A NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 126 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.A116A(1) ovary(1)|lung(1)|skin(1) 3 GCATGGGCGCGTCAGCAGGGA 0.517000 STAB2 55576 broad.mit.edu 37 12 104144357 104144357 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:104144357G>A uc001tjw.2 + 60 6625 c.6439G>A c.(6439-6441)GGC>AGC p.G2147S STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2147 Extracellular (Potential).|EGF-like 17. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CCCTCCACAGGGCAAGCACAA 0.547000 DAO 1610 broad.mit.edu 37 12 109294207 109294207 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:109294207T>C uc001tnr.3 + 11 1093 c.940T>C c.(940-942)TAC>CAC p.Y314H DAO_uc001tnq.3_Missense_Mutation_p.Y248H|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 314 FAD. glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 CCATGGAGGCTACGGGCTCAC 0.547000 UBE3B 89910 broad.mit.edu 37 12 109959319 109959319 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:109959319A>G uc001top.2 + 21 2930 c.2327A>G c.(2326-2328)GAG>GGG p.E776G UBE3B_uc001toq.2_Missense_Mutation_p.E776G|UBE3B_uc001tos.2_Missense_Mutation_p.E203G|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.E776G NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 776 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 CAGCTCTTCGAGTTTGTGGGG 0.483000 TMEM132D 121256 broad.mit.edu 37 12 129566470 129566470 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr12:129566470T>G uc009zyl.1 - 7 2085 c.1757A>C c.(1756-1758)GAG>GCG p.E586A TMEM132D_uc001uia.2_Missense_Mutation_p.E124A NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 586 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCCGGCCGCCTCAGCCACAAA 0.652000 PARP4 143 broad.mit.edu 37 13 25049733 25049733 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr13:25049733A>C uc001upl.2 - 15 1897 c.1791T>G c.(1789-1791)GAT>GAG p.D597E PARP4_uc010tdc.1_Missense_Mutation_p.D597E NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 597 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.D597H(1) ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GTAACTGGTAATCTAAACGTT 0.418000 NALCN 259232 broad.mit.edu 37 13 101944618 101944618 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr13:101944618A>G uc001vox.1 - 8 1088 c.899T>C c.(898-900)TTC>TCC p.F300S NALCN_uc001voy.2_Missense_Mutation_p.F15S|NALCN_uc001voz.2_Missense_Mutation_p.F300S|NALCN_uc001vpa.2_Missense_Mutation_p.F300S NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 300 Extracellular (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GATGAAATAGAAGTAGGAACG 0.458000 LTB4R 1241 broad.mit.edu 37 14 24785153 24785153 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:24785153T>A uc001wos.2 + 2 617 c.296T>A c.(295-297)GTC>GAC p.V99D LTB4R_uc010alp.2_Missense_Mutation_p.V99D|LTB4R_uc001wou.2_Missense_Mutation_p.V99D NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 99 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) GTCTGCGGAGTCAGCATGTAC 0.597000 FSCB 84075 broad.mit.edu 37 14 44975246 44975246 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:44975246T>C uc001wvn.2 - 1 1254 c.945A>G c.(943-945)AAA>AAG p.K315K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 315 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GAGGCTGAACTTTAACAGAAT 0.522000 SAV1 60485 broad.mit.edu 37 14 51107520 51107520 + Missense_Mutation SNP G G C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:51107520G>C uc001wyg.1 - 5 1059 c.898C>G c.(898-900)CAT>GAT p.H300D SAV1_uc001wyh.1_Missense_Mutation_p.H300D NM_021818 NP_068590 Q9H4B6 SAV1_HUMAN WW45 protein 300 hippo signaling cascade cytoplasm|nucleus identical protein binding breast(1) 1 all_epithelial(31;0.000611)|Breast(41;0.0333) TCTGCAGTATGATATGGATTT 0.448000 MAX 4149 broad.mit.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:65544747C>T uc001xif.1 - 4 349 c.179G>A c.(178-180)CGG>CAG p.R60Q MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_RNA|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q NM_002382 NP_002373 P61244 MAX_HUMAN MAX protein isoform a 60 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(1) 1 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) GATTTGGGCCCGGGATGCCTG 0.498000 KIAA1409 57578 broad.mit.edu 37 14 94007143 94007143 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:94007143A>G uc001ybv.1 + 10 1042 c.959A>G c.(958-960)CAG>CGG p.Q320R KIAA1409_uc001ybs.1_Missense_Mutation_p.Q320R|KIAA1409_uc001ybu.1_Missense_Mutation_p.Q258R NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 497 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAACACGATCAGAGGCTGCTC 0.433000 C14orf49 161176 broad.mit.edu 37 14 95912417 95912417 + Missense_Mutation SNP C C G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:95912417C>G uc001yei.3 - 8 1476 c.1461G>C c.(1459-1461)ATG>ATC p.M487I C14orf49_uc010avi.2_Missense_Mutation_p.M487I|C14orf49_uc001yej.1_Missense_Mutation_p.M487I NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 487 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GGGAGCTTTCCATCAGGGCTG 0.587000 RTL1 388015 broad.mit.edu 37 14 101348153 101348153 + Silent SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr14:101348153T>A uc010txj.1 - 1 3032 c.2973A>T c.(2971-2973)CGA>CGT p.R991R MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank NM_001134888 NP_001128360 A6NKG5 RTL1_HUMAN retrotransposon-like 1 991 pancreas(1) 1 GTGGCAGAGCTCGGCCGCCGT 0.592000 SLC12A6 9990 broad.mit.edu 37 15 34533513 34533513 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:34533513T>C uc001zhw.2 - 17 2352 c.2188A>G c.(2188-2190)ATC>GTC p.I730V SLC12A6_uc001zhv.2_Missense_Mutation_p.I679V|SLC12A6_uc001zhx.2_Missense_Mutation_p.I715V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.I671V|SLC12A6_uc001zib.2_Missense_Mutation_p.I721V|SLC12A6_uc001zic.2_Missense_Mutation_p.I730V|SLC12A6_uc010bau.2_Missense_Mutation_p.I730V|SLC12A6_uc001zid.2_Missense_Mutation_p.I671V|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.I542V NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 730 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AGCCCACGGATACCATCACCC 0.393000 GPR176 11245 broad.mit.edu 37 15 40094058 40094058 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:40094058A>G uc001zkj.1 - 3 1689 c.823T>C c.(823-825)TTC>CTC p.F275L GPR176_uc010uck.1_Missense_Mutation_p.F215L NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 275 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CACAAGATGAAGACCATCACC 0.582000 OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NDUFAF1 51103 broad.mit.edu 37 15 41679693 41679693 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:41679693T>G uc001znx.2 - 5 1315 c.933A>C c.(931-933)GAA>GAC p.E311D NDUFAF1_uc010bcf.2_RNA NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 311 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) AGGCAAATTCTTCTGTATGAG 0.368000 MGA 23269 broad.mit.edu 37 15 42040962 42040962 + Silent SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:42040962A>T uc010ucy.1 + 16 5521 c.5340A>T c.(5338-5340)ACA>ACT p.T1780T MGA_uc010ucz.1_Silent_p.T1571T|MGA_uc010uda.1_Silent_p.T396T|MGA_uc001zoi.2_5'UTR NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCTCAAACACACAACTTCAGG 0.493000 PIAS1 8554 broad.mit.edu 37 15 68479946 68479946 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:68479946T>C uc002aqz.2 + 14 1825 c.1729T>C c.(1729-1731)TCG>CCG p.S577P PIAS1_uc002ara.2_Missense_Mutation_p.S185P NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 577 Ser-rich.|4 X 4 AA repeats of N-T-S-L. androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 CCTCCTACACTCGTCTCGGTT 0.478000 DNAJA4 55466 broad.mit.edu 37 15 78566640 78566640 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:78566640A>G uc002bdj.1 + 4 637 c.520A>G c.(520-522)ATC>GTC p.I174V DNAJA4_uc002bdi.2_Missense_Mutation_p.I203V|DNAJA4_uc002bdk.2_Missense_Mutation_p.I147V|DNAJA4_uc002bdl.2_Missense_Mutation_p.I89V|DNAJA4_uc002bdm.1_5'Flank NM_001130182 NP_001123654 Q8WW22 DNJA4_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 4 174 CR-type. protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding skin(1) 1 GGTACAGCAGATCCAGACCGT 0.627000 OR4F6 390648 broad.mit.edu 37 15 102346405 102346405 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr15:102346405T>C uc010utr.1 + 1 483 c.483T>C c.(481-483)GCT>GCC p.A161A NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTCAGTTGGCTTTTGTTGTAG 0.398000 NETO2 81831 broad.mit.edu 37 16 47117496 47117496 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:47117496T>C uc002eer.1 - 9 1599 c.1214A>G c.(1213-1215)GAC>GGC p.D405G NETO2_uc002eeq.1_Missense_Mutation_p.D140G|NETO2_uc010vgf.1_Missense_Mutation_p.D262G NM_018092 NP_060562 Q8NC67 NETO2_HUMAN neuropilin- and tolloid-like protein 2 405 Cytoplasmic (Potential). integral to membrane receptor activity 0 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) AATCTCTTTGTCCCTTAGTGA 0.493000 HNSCC(25;0.065) LPCAT2 54947 broad.mit.edu 37 16 55613109 55613109 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:55613109T>G uc002eie.3 + 13 1584 c.1403T>G c.(1402-1404)GTT>GGT p.V468G LPCAT2_uc002eic.2_Missense_Mutation_p.V198G NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 468 Lumenal (Potential). cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 GACCTTGATGTTTCTGGTCTC 0.468000 GPR114 221188 broad.mit.edu 37 16 57597818 57597818 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:57597818G>A uc002elx.3 + 5 441 c.356G>A c.(355-357)CGG>CAG p.R119Q GPR114_uc010vhr.1_Missense_Mutation_p.R119Q|GPR114_uc002ely.2_Missense_Mutation_p.R119Q NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 119 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 GAGCTGACCCGGGACGCCTGC 0.632000 TK2 7084 broad.mit.edu 37 16 66565325 66565325 + Silent SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:66565325A>C uc002eos.2 - 5 684 c.459T>G c.(457-459)ACT>ACG p.T153T TK2_uc010vip.1_Silent_p.T14T|TK2_uc002eor.2_Silent_p.T80T|TK2_uc010cdq.2_Silent_p.T80T|TK2_uc010cdr.2_Silent_p.T62T|TK2_uc010viq.1_Silent_p.T135T|TK2_uc010vir.1_Silent_p.T128T NM_004614 NP_004605 O00142 KITM_HUMAN thymidine kinase 2, mitochondrial 111 pyrimidine base metabolic process|pyrimidine nucleoside salvage mitochondrial matrix ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237) GCTGCACATAAGTCTGTAGCG 0.507000 MTSS1L 92154 broad.mit.edu 37 16 70710872 70710872 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:70710872C>T uc002ezj.2 - 10 1002 c.742G>A c.(742-744)GAC>AAC p.D248N MTSS1L_uc002ezk.1_Missense_Mutation_p.D165N NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 248 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 CCCTTTAGGTCTTTGATTACC 0.602000 CTU2 348180 broad.mit.edu 37 16 88779164 88779164 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr16:88779164G>A uc002flm.2 + 7 636 c.588G>A c.(586-588)CCG>CCA p.P196P CTU2_uc002fln.2_Silent_p.P196P|CTU2_uc010chz.2_Silent_p.P267P|CTU2_uc010cia.2_Silent_p.P109P NM_001012759 NP_001012777 Q2VPK5 CTU2_HUMAN cytoplasmic tRNA 2-thiolation protein 2 isoform 196 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding skin(1) 1 GTCCTGGCCCGACTCAAGGGG 0.687000 FAM101B 359845 broad.mit.edu 37 17 293034 293034 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr17:293034G>A uc002frj.2 - 2 630 c.356C>T c.(355-357)ACG>ATG p.T119M NM_182705 NP_874364 Q8N5W9 F101B_HUMAN hypothetical protein LOC359845 189 0 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) CCTCCTCAGCGTCTTGCGGCA 0.637000 NXPH3 11248 broad.mit.edu 37 17 47656222 47656222 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr17:47656222T>G uc002ipa.2 + 2 603 c.319T>G c.(319-321)TCC>GCC p.S107A NXPH3_uc010wlw.1_Missense_Mutation_p.S107A NM_007225 NP_009156 O95157 NXPH3_HUMAN neurexophilin 3 precursor 107 III. neuropeptide signaling pathway extracellular region pancreas(1)|skin(1) 2 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CGACTTCTACTCCAACATCAA 0.592000 ABCA6 23460 broad.mit.edu 37 17 67087355 67087355 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr17:67087355T>C uc002jhw.1 - 26 3632 c.3457A>G c.(3457-3459)AGT>GGT p.S1153G NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1153 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) ATCAATATACTTAGGTCAAAA 0.338000 AZI1 22994 broad.mit.edu 37 17 79167799 79167799 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr17:79167799C>T uc002jzp.1 - 18 2457 c.2257G>A c.(2257-2259)GAG>AAG p.E753K AZI1_uc002jzm.1_Missense_Mutation_p.E180K|AZI1_uc002jzn.1_Missense_Mutation_p.E750K|AZI1_uc002jzo.1_Missense_Mutation_p.E750K|AZI1_uc010wum.1_Missense_Mutation_p.E753K|AZI1_uc002jzq.2_5'UTR NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 753 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGCAGCTCCTCGGCCTGGCGC 0.721000 C18orf8 29919 broad.mit.edu 37 18 21086966 21086966 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:21086966A>C uc010xax.1 + 3 333 c.212A>C c.(211-213)AAG>ACG p.K71T C18orf8_uc010xau.1_Intron|C18orf8_uc010xav.1_Missense_Mutation_p.K71T|C18orf8_uc010xaw.1_Intron|C18orf8_uc002kul.2_RNA NM_013326 NP_037458 Q96DM3 MIC1_HUMAN colon cancer-associated protein Mic1 71 ovary(1) 1 all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAGTGCATTAAGTTTTCCTTA 0.323000 ZNF521 25925 broad.mit.edu 37 18 22807019 22807019 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:22807019T>C uc002kvk.2 - 4 1110 c.863A>G c.(862-864)GAG>GGG p.E288G ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E288G|ZNF521_uc002kvl.2_Missense_Mutation_p.E68G NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 288 C2H2-type 7. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TACGAAGAGCTCGTGGCAGTA 0.537000 T PAX5 ALL PIK3C3 5289 broad.mit.edu 37 18 39647433 39647433 + Missense_Mutation SNP G G C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:39647433G>C uc002lap.2 + 24 2663 c.2605G>C c.(2605-2607)GCT>CCT p.A869P PIK3C3_uc010xcl.1_Missense_Mutation_p.A806P|PIK3C3_uc002laq.2_Missense_Mutation_p.A354P NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 869 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 GAGTGTCCATGCTCTTTTTGC 0.463000 TSP Lung(28;0.18) DCC 1630 broad.mit.edu 37 18 50731590 50731590 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:50731590A>G uc002lfe.1 + 10 2165 c.1578A>G c.(1576-1578)CAA>CAG p.Q526Q DCC_uc010xdr.1_Silent_p.Q374Q|DCC_uc010dpf.1_Silent_p.Q181Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 526 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATACAGTGCAAGTTCCAGGGC 0.373000 RAX 30062 broad.mit.edu 37 18 56936342 56936342 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:56936342T>G uc002lhx.2 - 3 1122 c.935A>C c.(934-936)AAG>ACG p.K312T RAX_uc010dpp.2_3'UTR NM_013435 NP_038463 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 312 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) CAGCGGGAACTTGTCCCCGAA 0.731000 RTTN 25914 broad.mit.edu 37 18 67684867 67684867 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr18:67684867C>T uc002lkp.2 - 46 6265 c.6197G>A c.(6196-6198)GGA>GAA p.G2066E RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.G1154E|RTTN_uc002lkn.2_Missense_Mutation_p.G56E|RTTN_uc010dqp.2_Missense_Mutation_p.G318E NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2066 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTTATTTCCTCCTTTTGGCAA 0.338000 APC2 10297 broad.mit.edu 37 19 1465645 1465645 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:1465645A>G uc002lsr.1 + 15 2553 c.2345A>G c.(2344-2346)GAT>GGT p.D782G APC2_uc002lss.1_Missense_Mutation_p.D364G|APC2_uc002lst.1_Missense_Mutation_p.D782G|APC2_uc002lsu.1_Missense_Mutation_p.D781G|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 782 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACGACGACGATGCACCGTCA 0.711000 ARRDC5 645432 broad.mit.edu 37 19 4891231 4891231 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:4891231C>T uc002mbm.2 - 3 856 c.856G>A c.(856-858)GGT>AGT p.G286S NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 286 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) ATGATCTCACCGTCCTGCGTG 0.617000 MUC16 94025 broad.mit.edu 37 19 9018538 9018538 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:9018538A>C uc002mkp.2 - 24 37840 c.37636T>G c.(37636-37638)TTC>GTC p.F12546V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12548 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGAGGGTGAACAGCACCAGG 0.463000 OR7G1 125962 broad.mit.edu 37 19 9226256 9226256 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:9226256G>T uc002mks.1 - 1 184 c.184C>A c.(184-186)CTT>ATT p.L62I NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TTAAAGAGAAGGAAGTACATG 0.488000 ZNF559 84527 broad.mit.edu 37 19 9453044 9453044 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:9453044T>G uc002mlg.2 + 7 1564 c.917T>G c.(916-918)TTT>TGT p.F306C ZNF559_uc002mlf.2_Missense_Mutation_p.F75C|ZNF559_uc010dwl.1_Missense_Mutation_p.F75C|ZNF559_uc010xkn.1_Missense_Mutation_p.F298C|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Missense_Mutation_p.F370C|ZNF559_uc010dwk.1_Missense_Mutation_p.F75C|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 306 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGCAAAGAATTTACTTGTTTC 0.368000 TRMT1 55621 broad.mit.edu 37 19 13226979 13226979 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:13226979C>T uc002mwj.2 - 1 485 c.235G>A c.(235-237)GAA>AAA p.E79K NACC1_uc002mwm.2_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.E79K|TRMT1_uc002mwl.3_Missense_Mutation_p.E79K|TRMT1_uc010xmz.1_Intron NM_017722 NP_060192 Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 isoform 1 79 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CGATTGAATTCCTGCACCGGG 0.582000 SLC1A6 6511 broad.mit.edu 37 19 15079169 15079169 + Missense_Mutation SNP C C T rs149934975 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:15079169C>T uc002naa.1 - 3 502 c.494G>A c.(493-495)CGG>CAG p.R165Q SLC1A6_uc010dzu.1_Missense_Mutation_p.R165Q|SLC1A6_uc010xod.1_Intron|SLC1A6_uc002nab.2_Missense_Mutation_p.R165Q|SLC1A6_uc002nac.2_Missense_Mutation_p.R165Q|SLC1A6_uc002nad.1_Missense_Mutation_p.R165Q NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 165 Extracellular (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCGGCCCTCCCGGTGCAGCCC 0.473000 CYP4F2 8529 broad.mit.edu 37 19 15989663 15989663 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:15989663T>G uc002nbs.1 - 13 1531 c.1481A>C c.(1480-1482)GAC>GCC p.D494A CYP4F2_uc010xot.1_Missense_Mutation_p.D345A NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 494 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 CTCGGTGTGGTCAGGCAGGAC 0.677000 JAK3 3718 broad.mit.edu 37 19 17951088 17951088 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:17951088C>T uc002nhn.3 - 9 1305 c.1205G>A c.(1204-1206)CGC>CAC p.R402H JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.R402H|JAK3_uc010xpx.1_Missense_Mutation_p.R402H NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 402 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GGGGCTGCGGCGGAGAACATA 0.483000 2 Mis acute megakaryocytic leukemia| ISYNA1 51477 broad.mit.edu 37 19 18547246 18547246 + Missense_Mutation SNP G G A rs138096546 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:18547246G>A uc002njd.1 - 6 703 c.653C>T c.(652-654)GCG>GTG p.A218V ISYNA1_uc002nja.1_Missense_Mutation_p.A90V|ISYNA1_uc002njb.1_Missense_Mutation_p.A136V|ISYNA1_uc002njc.1_Missense_Mutation_p.A68V|ISYNA1_uc010xqh.1_Missense_Mutation_p.A16V|ISYNA1_uc002nje.1_Missense_Mutation_p.A164V|ISYNA1_uc002njf.1_Missense_Mutation_p.A68V NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 218 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 GTCCAGCCCCGCGCTAGACCG 0.607000 ZNF536 9745 broad.mit.edu 37 19 31040061 31040061 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:31040061G>T uc002nsu.1 + 4 3673 c.3535G>T c.(3535-3537)GAT>TAT p.D1179Y ZNF536_uc010edd.1_Missense_Mutation_p.D1179Y NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1179 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) GGAGAACAACGATGAAGAGGA 0.557000 ZNF570 148268 broad.mit.edu 37 19 37976066 37976066 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:37976066T>C uc002ogk.1 + 5 2071 c.1542T>C c.(1540-1542)GCT>GCC p.A514A ZNF570_uc010efl.1_Silent_p.A570A|ZNF570_uc010xtr.1_Silent_p.A311A NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 514 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACACCTTGCTCATCACCAGA 0.299000 SPINT2 10653 broad.mit.edu 37 19 38779813 38779813 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:38779813G>A uc002ohr.1 + 4 704 c.373G>A c.(373-375)GAT>AAT p.D125N SPINT2_uc002ohs.1_Missense_Mutation_p.D68N NM_021102 NP_066925 O43291 SPIT2_HUMAN serine protease inhibitor, Kunitz type, 2 125 Extracellular (Potential). cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity 0 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCACTCCAGCGATATGTTCAA 0.338000 ATP1A3 478 broad.mit.edu 37 19 42479939 42479939 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:42479939A>G uc002osg.2 - 16 2259 c.2105T>C c.(2104-2106)GTG>GCG p.V702A ATP1A3_uc010xwf.1_Missense_Mutation_p.V713A|ATP1A3_uc010xwg.1_Missense_Mutation_p.V672A|ATP1A3_uc010xwh.1_Missense_Mutation_p.V715A|ATP1A3_uc002osh.2_Missense_Mutation_p.V702A NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 702 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 GGTCACAGCCACAATTGCACC 0.438000 TRPM4 54795 broad.mit.edu 37 19 49705384 49705384 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:49705384C>T uc002pmw.2 + 20 3189 c.3117C>T c.(3115-3117)CTC>CTT p.L1039L TRPM4_uc010emu.2_Silent_p.L894L|TRPM4_uc010yak.1_Silent_p.L503L|TRPM4_uc002pmx.2_Silent_p.L865L|TRPM4_uc010emv.2_Silent_p.L924L|TRPM4_uc010yal.1_Silent_p.L685L|TRPM4_uc002pmy.2_Silent_p.L381L NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 1039 Helical; (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TCAACTTGCTCATTGCCATGT 0.582000 POLD1 5424 broad.mit.edu 37 19 50910659 50910659 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:50910659G>A uc002psb.3 + 14 1818 c.1762G>A c.(1762-1764)GAG>AAG p.E588K POLD1_uc002psc.3_Missense_Mutation_p.E588K|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.E588K NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 588 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) CACTGTCATCGAGCCCCTCAA 0.403000 DNA_polymerases_(catalytic_subunits) ZNF610 162963 broad.mit.edu 37 19 52857592 52857592 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:52857592A>C uc002pyx.3 + 5 685 c.279A>C c.(277-279)AAA>AAC p.K93N ZNF610_uc002pyy.3_Missense_Mutation_p.K93N|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.K93N NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAATAGTAAAAAATACAGATG 0.353000 ZNF347 84671 broad.mit.edu 37 19 53645784 53645784 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:53645784T>A uc002qbb.1 - 5 366 c.297A>T c.(295-297)AAA>AAT p.K99N ZNF347_uc010eql.1_Missense_Mutation_p.K100N|ZNF347_uc002qbc.1_Missense_Mutation_p.K100N NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) GTAGTAAATCTTTCATTACAA 0.353000 KIR2DL1 3802 broad.mit.edu 37 19 55284967 55284967 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:55284967T>G uc002qhb.1 + 3 291 c.253T>G c.(253-255)TTC>GTC p.F85V KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.F85V NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 85 Extracellular (Potential).|Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CAAGGCCAACTTCTCCATCAG 0.522000 NLRP9 338321 broad.mit.edu 37 19 56243496 56243496 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:56243496T>G uc002qly.2 - 2 1729 c.1701A>C c.(1699-1701)GAA>GAC p.E567D NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 567 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AAATGAAAACTTCTTCAAAGA 0.348000 PEG3 5178 broad.mit.edu 37 19 57326873 57326873 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:57326873A>G uc002qnu.2 - 7 3288 c.2937T>C c.(2935-2937)GCT>GCC p.A979A 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_Silent_p.A950A|PEG3_uc002qnv.2_Silent_p.A979A|PEG3_uc002qnw.2_Silent_p.A855A|PEG3_uc002qnx.2_Silent_p.A853A|PEG3_uc010etr.2_Silent_p.A979A NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 979 C2H2-type 5. 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) CAGAGCTATGAGCAAAGCACT 0.493000 IL1R2 7850 broad.mit.edu 37 2 102625053 102625053 + Missense_Mutation SNP G G A rs148522700 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:102625053G>A uc002tbm.2 + 2 245 c.16G>A c.(16-18)GTG>ATG p.V6M IL1R2_uc002tbn.2_Missense_Mutation_p.V6M|IL1R2_uc002tbo.1_Missense_Mutation_p.V6M NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 6 immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GCGCTTGTACGTGTTGGTAAT 0.532000 EDAR 10913 broad.mit.edu 37 2 109513596 109513596 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:109513596T>G uc002teq.3 - 12 1545 c.1114A>C c.(1114-1116)AAA>CAA p.K372Q EDAR_uc010fjn.2_Missense_Mutation_p.K404Q|EDAR_uc010yws.1_Missense_Mutation_p.K404Q NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 372 Death.|Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 CGCCACGTTTTCACAACAGCC 0.572000 DPP10 57628 broad.mit.edu 37 2 115200414 115200414 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:115200414A>G uc002tla.1 + 1 516 c.59A>G c.(58-60)AAG>AGG p.K20R NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 20 Mediates effects on KCND2.|Cytoplasmic (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 AAAACAATCAAGGTAGGATCT 0.483000 CCDC93 54520 broad.mit.edu 37 2 118698836 118698836 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:118698836T>C uc002tlj.2 - 19 1577 c.1451A>G c.(1450-1452)AAG>AGG p.K484R CCDC93_uc010fld.1_Missense_Mutation_p.K484R NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 484 large_intestine(1)|ovary(1) 2 TTCATCAATCTTGCGGTGCAA 0.438000 MGAT5 4249 broad.mit.edu 37 2 135206285 135206285 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:135206285A>C uc002ttv.1 + 16 2238 c.2093A>C c.(2092-2094)AAG>ACG p.K698T LOC151162_uc002ttw.3_5'Flank NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 698 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) TTTGACCCTAAGAATAAGCAC 0.562000 THSD7B 80731 broad.mit.edu 37 2 138208477 138208477 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:138208477A>G uc002tva.1 + 14 2929 c.2929A>G c.(2929-2931)AGT>GGT p.S977G THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CGATTGGTCTAGTTGGGGGTC 0.393000 LRP1B 53353 broad.mit.edu 37 2 141625218 141625218 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:141625218T>G uc002tvj.1 - 27 5492 c.4520A>C c.(4519-4521)CAG>CCG p.Q1507P LRP1B_uc010fnl.1_Missense_Mutation_p.Q689P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1507 Extracellular (Potential).|LDL-receptor class B 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTGGTTTTCTGAATCACACT 0.473000 TSP Lung(27;0.18) GCG 2641 broad.mit.edu 37 2 163000597 163000597 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:163000597A>G uc002ucc.2 - 5 575 c.476T>C c.(475-477)CTT>CCT p.L159P NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 159 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) AAGATTATCAAGAATGGTGTT 0.398000 KCNH7 90134 broad.mit.edu 37 2 163241356 163241356 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:163241356G>A uc002uch.1 - 13 3016 c.2804C>T c.(2803-2805)TCA>TTA p.S935L NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 935 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) GATGAAAGATGAGGATCTGCT 0.408000 CSRNP3 80034 broad.mit.edu 37 2 166535430 166535430 + Missense_Mutation SNP G G A rs141222366 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:166535430G>A uc002udf.2 + 7 1301 c.925G>A c.(925-927)GTA>ATA p.V309I CSRNP3_uc002udg.2_Missense_Mutation_p.V309I NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 309 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CGCTCACTCCGTAGAATATTC 0.507000 XIRP2 129446 broad.mit.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:168100111G>A uc002udx.2 + 8 2227 c.2209G>A c.(2209-2211)GAA>AAA p.E737K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E562K|XIRP2_uc010fpq.2_Missense_Mutation_p.E515K|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 562 Xin 6. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AAAATGTTTCGAAACTCAACC 0.373000 TTN 7273 broad.mit.edu 37 2 179425966 179425966 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:179425966C>T uc010zfg.1 - 275 77413 c.77189G>A c.(77188-77190)CGG>CAG p.R25730Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R19425Q|TTN_uc010zfi.1_Missense_Mutation_p.R19358Q|TTN_uc010zfj.1_Missense_Mutation_p.R19233Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26657 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTCAGCCACCGGCCATCTGG 0.383000 TTN 7273 broad.mit.edu 37 2 179445318 179445318 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:179445318A>C uc010zfg.1 - 266 59308 c.59084T>G c.(59083-59085)CTT>CGT p.L19695R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13390R|TTN_uc010zfi.1_Missense_Mutation_p.L13323R|TTN_uc010zfj.1_Missense_Mutation_p.L13198R|uc002umv.1_3'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20622 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCCGCATCAAGTTCTCCCTC 0.393000 TTN 7273 broad.mit.edu 37 2 179452255 179452255 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:179452255C>T uc010zfg.1 - 255 56301 c.56077G>A c.(56077-56079)GTC>ATC p.V18693I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12388I|TTN_uc010zfi.1_Missense_Mutation_p.V12321I|TTN_uc010zfj.1_Missense_Mutation_p.V12196I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19620 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATACTCTGACATTTACGAAT 0.398000 TTN 7273 broad.mit.edu 37 2 179458569 179458569 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:179458569T>C uc010zfg.1 - 247 50978 c.50754A>G c.(50752-50754)CCA>CCG p.P16918P uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P10613P|TTN_uc010zfi.1_Silent_p.P10546P|TTN_uc010zfj.1_Silent_p.P10421P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17845 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAAAACTAACTGGTCCTACTG 0.373000 PLCL1 5334 broad.mit.edu 37 2 198950584 198950584 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:198950584T>C uc010fsp.2 + 2 2634 c.2343T>C c.(2341-2343)ACT>ACC p.T781T PLCL1_uc002uuv.3_Silent_p.T702T NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 781 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) TTGATGAAACTTTTGAGTTCC 0.388000 IKZF2 22807 broad.mit.edu 37 2 213878645 213878645 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr2:213878645T>C uc002vem.2 - 7 895 c.726A>G c.(724-726)GAA>GAG p.E242E IKZF2_uc010fuu.2_Silent_p.E97E|IKZF2_uc002vej.2_Silent_p.E189E|IKZF2_uc002vek.2_RNA|IKZF2_uc010fuv.2_Intron|IKZF2_uc002vel.2_Silent_p.E163E|IKZF2_uc010fuw.2_Silent_p.E16E|IKZF2_uc010fux.2_Silent_p.E16E|IKZF2_uc010fuy.2_Silent_p.E170E|IKZF2_uc002ven.2_Silent_p.E216E|IKZF2_uc002vei.2_Silent_p.E20E NM_016260 NP_057344 Q9UKS7 IKZF2_HUMAN helios isoform 1 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) CCTTACAATCTTCCATAGGAG 0.383000 RBCK1 10616 broad.mit.edu 37 20 402813 402813 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:402813G>A uc002wdp.3 + 8 1653 c.960G>A c.(958-960)GAG>GAA p.E320E RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Silent_p.E278E|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.E150E NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 320 RING-type. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) AGGAGGCGGAGGTCTCCTGCC 0.607000 SSTR4 6754 broad.mit.edu 37 20 23016968 23016968 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:23016968T>G uc002wsr.2 + 1 912 c.848T>G c.(847-849)CTC>CGC p.L283R NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 283 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTGCTGAACCTCTTCGTGACC 0.567000 NAPB 63908 broad.mit.edu 37 20 23383641 23383641 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:23383641T>C uc002wta.2 - 2 284 c.167A>G c.(166-168)AAA>AGA p.K56R NAPB_uc002wtc.2_5'UTR|NAPB_uc002wtb.2_Missense_Mutation_p.K56R|NAPB_uc002wtd.3_RNA|NAPB_uc010zst.1_Missense_Mutation_p.K56R NM_022080 NP_071363 Q9H115 SNAB_HUMAN N-ethylmaleimide-sensitive factor attachment 56 intracellular protein transport|vesicle-mediated transport membrane ovary(1) 1 Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143) ACTCCAATTTTTAGCCATCTT 0.333000 DLGAP4 22839 broad.mit.edu 37 20 35064645 35064645 + Missense_Mutation SNP G G C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:35064645G>C uc002xff.2 + 4 1568 c.1133G>C c.(1132-1134)AGC>ACC p.S378T DLGAP4_uc010zvp.1_Missense_Mutation_p.S378T NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 378 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GACGAGGACAGCGACGAGTCC 0.711000 VSTM2L 128434 broad.mit.edu 37 20 36572448 36572448 + Silent SNP C C T rs150645578 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:36572448C>T uc002xhk.3 + 4 662 c.408C>T c.(406-408)GAC>GAT p.D136D NM_080607 NP_542174 Q96N03 VTM2L_HUMAN V-set and transmembrane domain containing 2 like 136 Ig-like. ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) AGCCCACGGACGAAGGCACCT 0.652000 PREX1 57580 broad.mit.edu 37 20 47267989 47267989 + Missense_Mutation SNP C C A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:47267989C>A uc002xtw.1 - 22 2623 c.2600G>T c.(2599-2601)TGC>TTC p.C867F PREX1_uc002xtv.1_Missense_Mutation_p.C164F NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 867 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CAGCACATGGCACCTGACGCC 0.637000 SALL4 57167 broad.mit.edu 37 20 50406626 50406626 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:50406626T>C uc002xwh.3 - 2 2497 c.2396A>G c.(2395-2397)AAG>AGG p.K799R SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 799 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AGACTTTGACTTGATGCTTTC 0.512000 CASS4 57091 broad.mit.edu 37 20 55027707 55027707 + Missense_Mutation SNP A A T rs145762733 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:55027707A>T uc002xxp.2 + 6 1700 c.1475A>T c.(1474-1476)GAA>GTA p.E492V CASS4_uc002xxq.3_Missense_Mutation_p.E492V|CASS4_uc002xxr.2_Missense_Mutation_p.E492V|CASS4_uc010zze.1_Missense_Mutation_p.E438V|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 492 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 TCTGTAAGAGAATTTCTGGAT 0.478000 CDH26 60437 broad.mit.edu 37 20 58564160 58564160 + Missense_Mutation SNP G G T rs143325825 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:58564160G>T uc002ybe.2 + 9 1525 c.1225G>T c.(1225-1227)GCC>TCC p.A409S CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 409 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) AGAGGAGGGCGCCAGGCCTGG 0.557000 LIPI 149998 broad.mit.edu 37 21 15561478 15561478 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr21:15561478T>C uc002yjm.2 - 2 382 c.372A>G c.(370-372)GAA>GAG p.E124E LIPI_uc010gkw.1_Silent_p.E57E NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 103 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TCATATCTTCTTCATTCAGCA 0.388000 ADAMTS5 11096 broad.mit.edu 37 21 28296442 28296442 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr21:28296442T>G uc002ymg.2 - 8 3452 c.2723A>C c.(2722-2724)AAG>ACG p.K908T NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 908 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TTTTGCTAACTTCCGGTTTCC 0.522000 TIAM1 7074 broad.mit.edu 37 21 32638350 32638350 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr21:32638350T>G uc002yow.1 - 5 1411 c.939A>C c.(937-939)CAA>CAC p.Q313H TIAM1_uc011adk.1_Missense_Mutation_p.Q313H|TIAM1_uc011adl.1_Missense_Mutation_p.Q313H|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 313 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CTCTTCTGCCTTGCATGCTGT 0.408000 CECR1 51816 broad.mit.edu 37 22 17688091 17688091 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr22:17688091A>C uc002zmk.1 - 2 624 c.412T>G c.(412-414)TTC>GTC p.F138V CECR1_uc010gqu.1_Missense_Mutation_p.F138V|CECR1_uc011agi.1_Missense_Mutation_p.F96V|CECR1_uc011agj.1_Missense_Mutation_p.F96V NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 138 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTTGGGGTGAAACAGATGTGG 0.537000 GNAZ 2781 broad.mit.edu 37 22 23437912 23437912 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr22:23437912A>C uc002zwu.1 + 2 567 c.30A>C c.(28-30)AAA>AAC p.K10N RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 10 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) CAGAGGAAAAAGAAGCAGCCC 0.637000 ZNRF3 84133 broad.mit.edu 37 22 29445296 29445296 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr22:29445296A>T uc003aeg.2 + 8 992 c.827A>T c.(826-828)AAC>ATC p.N276I ZNRF3_uc003aeh.1_Missense_Mutation_p.N276I NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 376 Cytoplasmic (Potential). integral to membrane zinc ion binding ovary(1) 1 CACAGGACCAACGCCATCCCA 0.647000 EFCAB6 64800 broad.mit.edu 37 22 44063009 44063009 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr22:44063009T>A uc003bdy.1 - 17 2173 c.1958A>T c.(1957-1959)AAA>ATA p.K653I EFCAB6_uc003bdz.1_Missense_Mutation_p.K501I|EFCAB6_uc010gzi.1_Missense_Mutation_p.K501I|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 653 EF-hand 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CACGTTAATTTTTCCATTAGG 0.373000 PKDREJ 10343 broad.mit.edu 37 22 46655349 46655349 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr22:46655349C>T uc003bhh.2 - 1 3871 c.3871G>A c.(3871-3873)GGG>AGG p.G1291R NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1291 Cytoplasmic (Potential).|PLAT. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TGGATGTCCCCCAAGTCACTT 0.463000 CNTN6 27255 broad.mit.edu 37 3 1415438 1415438 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:1415438T>G uc003boz.2 + 15 2204 c.1937T>G c.(1936-1938)GTT>GGT p.V646G CNTN6_uc011asj.1_Missense_Mutation_p.V574G|CNTN6_uc003bpa.2_Missense_Mutation_p.V646G NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 646 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGGCAGGCTGTTGCTACAGGT 0.299000 C3orf20 84077 broad.mit.edu 37 3 14770025 14770025 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:14770025C>T uc003byy.2 + 12 2174 c.1770C>T c.(1768-1770)CCC>CCT p.P590P C3orf20_uc003byz.2_Silent_p.P468P|C3orf20_uc003bza.2_Silent_p.P468P|C3orf20_uc003bzb.1_Silent_p.P91P NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 590 cytoplasm|integral to membrane ovary(3)|skin(1) 4 GAACTCATCCCGAGCGGCTCC 0.453000 EOMES 8320 broad.mit.edu 37 3 27759036 27759036 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:27759036T>G uc003cdx.2 - 6 1586 c.1586A>C c.(1585-1587)AAC>ACC p.N529T EOMES_uc003cdy.3_Missense_Mutation_p.N548T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.N253T NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 529 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 GTCTAGTTTGTTGGTCCCAGG 0.542000 UBA7 7318 broad.mit.edu 37 3 49850964 49850964 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:49850964C>T uc003cxr.2 - 2 344 c.173G>A c.(172-174)AGC>AAC p.S58N NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 58 2 approximate repeats.|1-1. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CAGAGTGAGGCTGCCCACACC 0.662000 HYAL2 8692 broad.mit.edu 37 3 50355620 50355620 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:50355620A>G uc003czu.2 - 4 1582 c.1362T>C c.(1360-1362)GCT>GCC p.A454A HYAL2_uc003czx.2_Silent_p.A454A|HYAL2_uc003czv.2_Silent_p.A454A|HYAL2_uc003czw.2_Silent_p.A454A NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 454 anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) GGTGGGACCCAGCCCAGGCCT 0.632000 CACNA2D2 9254 broad.mit.edu 37 3 50416351 50416351 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:50416351T>A uc003daq.2 - 13 1372 c.1334A>T c.(1333-1335)AAC>ATC p.N445I CACNA2D2_uc003dap.2_Missense_Mutation_p.N445I NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 445 VWFA.|Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) GGTACCTTTGTTGGCACAGGC 0.547000 IQCF2 389123 broad.mit.edu 37 3 51897136 51897136 + Missense_Mutation SNP C C T rs147180778 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:51897136C>T uc003dbt.1 + 3 283 c.245C>T c.(244-246)TCG>TTG p.S82L IQCF1_uc003dbq.3_Intron|IQCF2_uc003dbu.1_RNA NM_203424 NP_982248 Q8IXL9 IQCF2_HUMAN IQ motif containing F2 82 0 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATGACGCTGTCGAGGGTGCTG 0.612000 LRTM1 57408 broad.mit.edu 37 3 54958865 54958865 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:54958865A>C uc003dhl.2 - 2 519 c.385T>G c.(385-387)TTG>GTG p.L129V CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 129 LRR 4.|Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TTTGATGACAAATCAAGCTCC 0.468000 ERC2 26059 broad.mit.edu 37 3 56183149 56183149 + Silent SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:56183149G>T uc003dhr.1 - 5 1417 c.1161C>A c.(1159-1161)ATC>ATA p.I387I NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 387 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAATGAAGCGATTTTTGTGT 0.328000 HTR1F 3355 broad.mit.edu 37 3 88040704 88040704 + Silent SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:88040704A>C uc003dqr.2 + 2 963 c.805A>C c.(805-807)AGG>CGG p.R269R NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 269 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) GAGAAGTCTCAGGTCTGAATT 0.403000 ABI3BP 25890 broad.mit.edu 37 3 100595361 100595361 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:100595361T>C uc003dun.2 - 7 846 c.761A>G c.(760-762)AAG>AGG p.K254R ABI3BP_uc003duo.2_Missense_Mutation_p.K247R|ABI3BP_uc003dup.3_Missense_Mutation_p.K247R NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 254 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 ATTACCTTGCTTGATGATTGT 0.343000 XRN1 54464 broad.mit.edu 37 3 142048335 142048335 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:142048335G>A uc003eus.2 - 37 4409 c.4342C>T c.(4342-4344)CGA>TGA p.R1448* XRN1_uc010huu.2_Nonsense_Mutation_p.R915*|XRN1_uc003eut.2_Nonsense_Mutation_p.R1448*|XRN1_uc003euu.2_Nonsense_Mutation_p.R1449* NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1448 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 GAACAAATTCGAGAAAGTTCA 0.403000 PLOD2 5352 broad.mit.edu 37 3 145803056 145803056 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:145803056A>G uc003evs.1 - 11 1638 c.1132T>C c.(1132-1134)TTT>CTT p.F378L PLOD2_uc003evq.1_Missense_Mutation_p.F38L|PLOD2_uc011bnm.1_Missense_Mutation_p.F323L|PLOD2_uc003evr.1_Missense_Mutation_p.F378L NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 378 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TGACGGCAAAAGTCCCTAACA 0.294000 GPR87 53836 broad.mit.edu 37 3 151012123 151012123 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:151012123G>A uc003eyt.2 - 3 1272 c.911C>T c.(910-912)GCG>GTG p.A304V MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_023915 NP_076404 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 304 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACATTACACGCAGACAAGAA 0.338000 SGEF 26084 broad.mit.edu 37 3 153847381 153847381 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:153847381A>G uc011bog.1 + 4 1353 c.1142A>G c.(1141-1143)CAA>CGA p.Q381R SGEF_uc011boh.1_Missense_Mutation_p.Q381R NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 381 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTCCTGTATCAAAACTACAAG 0.363000 PIK3CA 5290 broad.mit.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:178928079G>A uc003fjk.2 + 8 1514 c.1357G>A c.(1357-1359)GAA>AAA p.E453K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 453 C2 PI3K-type. E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCATGGATTAGAAGATTTGCT 0.348000 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) CCDC39 339829 broad.mit.edu 37 3 180372680 180372680 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:180372680T>C uc010hxe.2 - 7 915 c.800A>G c.(799-801)AAG>AGG p.K267R CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 267 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCCAAAAACTTGATCTTTTC 0.308000 CCDC39 339829 broad.mit.edu 37 3 180377341 180377341 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:180377341A>C uc010hxe.2 - 6 752 c.637T>G c.(637-639)TTT>GTT p.F213V CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 213 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ATCTTACGAAAATCTTGTGCT 0.343000 ZDHHC19 131540 broad.mit.edu 37 3 195938172 195938172 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr3:195938172C>T uc003fwc.2 - 1 129 c.15G>A c.(13-15)ACG>ACA p.T5T ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA NM_001039617 NP_001034706 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC domain containing 19 5 integral to membrane acyltransferase activity|zinc ion binding ovary(3) 3 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) GCGTGGCATCCGTTAAGAGTG 0.647000 EVC2 132884 broad.mit.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:5620291G>A uc003gij.2 - 15 2674 c.2620C>T c.(2620-2622)CGA>TGA p.R874* EVC2_uc011bwb.1_Nonsense_Mutation_p.R314*|EVC2_uc003gik.2_Nonsense_Mutation_p.R794* NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 874 integral to membrane large_intestine(3)|ovary(2) 5 AGCAGAACTCGGGCCCGGATC 0.607000 DRD5 1816 broad.mit.edu 37 4 9784832 9784832 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:9784832C>T uc003gmb.3 + 1 1575 c.1179C>T c.(1177-1179)CTC>CTT p.L393L NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 393 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GCAATGAGCTCATCTCCTACA 0.582000 GBA3 57733 broad.mit.edu 37 4 22820403 22820403 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:22820403T>G uc003gqp.3 + 5 1358 c.1267T>G c.(1267-1269)TTT>GTT p.F423V GBA3_uc010iep.2_Missense_Mutation_p.F116V|GBA3_uc011bxo.1_Missense_Mutation_p.F424V NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 423 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TCTGGATAACTTTGAGTGGAA 0.413000 PPARGC1A 10891 broad.mit.edu 37 4 23814390 23814390 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:23814390T>C uc003gqs.2 - 10 2119 c.1999A>G c.(1999-2001)AGG>GGG p.R667G PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 667 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TGCCTCTGCCTCTCCCTTTGC 0.448000 PTPN13 5783 broad.mit.edu 37 4 87724935 87724935 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:87724935G>A uc003hpz.2 + 43 7059 c.6579G>A c.(6577-6579)ACG>ACA p.T2193T PTPN13_uc003hpy.2_Silent_p.T2198T|PTPN13_uc003hqa.2_Silent_p.T2174T|PTPN13_uc003hqb.2_Silent_p.T2002T|PTPN13_uc003hqc.1_Silent_p.T559T NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2193 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GTAAATACACGGGTGCCAACT 0.448000 DDIT4L 115265 broad.mit.edu 37 4 101109157 101109157 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:101109157T>C uc003hvq.2 - 3 462 c.259A>G c.(259-261)AGA>GGA p.R87G NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 87 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) TGAGCAATTCTCTGGGTCAGT 0.443000 ANK2 287 broad.mit.edu 37 4 114278657 114278657 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:114278657T>C uc003ibe.3 + 38 8983 c.8883T>C c.(8881-8883)TCT>TCC p.S2961S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.S263S|ANK2_uc011cgb.1_Silent_p.S2976S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2928 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGTGTATTCTGTTACCATCA 0.393000 NDST4 64579 broad.mit.edu 37 4 115997948 115997948 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:115997948A>T uc003ibu.2 - 2 924 c.245T>A c.(244-246)CTC>CAC p.L82H NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 82 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTCCACGAAGAGAAGGACAGT 0.438000 FAT4 79633 broad.mit.edu 37 4 126371322 126371322 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:126371322T>G uc003ifj.3 + 9 9151 c.9151T>G c.(9151-9153)TTG>GTG p.L3051V FAT4_uc011cgp.1_Missense_Mutation_p.L1349V|FAT4_uc003ifi.1_Missense_Mutation_p.L529V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3051 Extracellular (Potential).|Cadherin 29. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GATTTCTGACTTGAACCAAAA 0.383000 DCLK2 166614 broad.mit.edu 37 4 151023936 151023936 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:151023936A>G uc003ilm.3 + 2 828 c.728A>G c.(727-729)AAG>AGG p.K243R DCLK2_uc003iln.3_Missense_Mutation_p.K243R|DCLK2_uc003ilo.3_Missense_Mutation_p.K243R|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 243 Doublecortin 2. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) GGAGTCGTCAAGAGGCTCTGC 0.463000 RBM46 166863 broad.mit.edu 37 4 155720526 155720526 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:155720526A>C uc003ioo.2 + 4 1385 c.1212A>C c.(1210-1212)AAA>AAC p.K404N RBM46_uc011cim.1_Missense_Mutation_p.K404N|RBM46_uc003iop.1_Missense_Mutation_p.K404N NM_144979 NP_659416 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 404 nucleotide binding|RNA binding central_nervous_system(1)|skin(1) 2 all_hematologic(180;0.24) Renal(120;0.0854) ACTGCAACAAAAATAACTGGG 0.313000 GUCY1A3 2982 broad.mit.edu 37 4 156634503 156634503 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:156634503A>C uc003iov.2 + 8 1876 c.1340A>C c.(1339-1341)AAG>ACG p.K447T GUCY1A3_uc010iqc.2_Missense_Mutation_p.K447T|GUCY1A3_uc003iow.2_Missense_Mutation_p.K447T|GUCY1A3_uc010iqd.2_Missense_Mutation_p.K446T|GUCY1A3_uc003iox.2_Missense_Mutation_p.K447T|GUCY1A3_uc003ioz.2_Missense_Mutation_p.K212T|GUCY1A3_uc003ioy.2_Missense_Mutation_p.K447T|GUCY1A3_uc010iqe.2_Missense_Mutation_p.K212T|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.K447T NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 447 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAGGAGGAGAAGAAAAAGACA 0.522000 TDO2 6999 broad.mit.edu 37 4 156831278 156831278 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:156831278G>T uc003ipf.1 + 6 597 c.533G>T c.(532-534)AGA>ATA p.R178I NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 178 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TATAACAGAAGACATTATCGT 0.383000 FNIP2 57600 broad.mit.edu 37 4 159790449 159790449 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:159790449T>C uc003iqe.3 + 13 2844 c.2661T>C c.(2659-2661)ATT>ATC p.I887I NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 887 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) AAGGAGACATTCCCCGAAATG 0.597000 CCDC111 201973 broad.mit.edu 37 4 185593358 185593358 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:185593358T>G uc003iwk.2 + 7 1021 c.588T>G c.(586-588)GCT>GCG p.A196A CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Silent_p.A196A|CCDC111_uc003iwl.2_Silent_p.A196A|CCDC111_uc003iwm.2_Silent_p.A67A|CCDC111_uc003iwn.2_Silent_p.A21A NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 196 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) TGCAGCCTGCTCTTGACTTGC 0.428000 CCDC110 256309 broad.mit.edu 37 4 186379713 186379713 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr4:186379713A>G uc003ixu.3 - 6 2104 c.2028T>C c.(2026-2028)TTT>TTC p.F676F CCDC110_uc003ixv.3_Silent_p.F639F|CCDC110_uc011ckt.1_Silent_p.F676F NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 676 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTCTTGCAGAAAATTCTCTT 0.323000 ZFR 51663 broad.mit.edu 37 5 32400164 32400164 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:32400164A>G uc003jhr.1 - 9 1741 c.1661T>C c.(1660-1662)CTT>CCT p.L554P NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 554 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) TAAAGCAGCAAGAGATGCAGG 0.433000 SLC45A2 51151 broad.mit.edu 37 5 33982444 33982444 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:33982444A>C uc003jid.2 - 2 551 c.459T>G c.(457-459)GAT>GAG p.D153E SLC45A2_uc003jie.2_Missense_Mutation_p.D153E|SLC45A2_uc003jif.3_Missense_Mutation_p.D153E|SLC45A2_uc011coe.1_Missense_Mutation_p.D153E NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 153 Helical; Name=4; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CGGCAGCAAAATCAAAGAGAA 0.463000 UGT3A1 133688 broad.mit.edu 37 5 35991320 35991320 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:35991320A>C uc003jjv.1 - 1 180 c.23T>G c.(22-24)CTT>CGT p.L8R UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L8R|UGT3A1_uc011cor.1_Missense_Mutation_p.L8R|UGT3A1_uc003jjy.1_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 8 integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCCACTAGAAGCAGCACCCG 0.602000 GHR 2690 broad.mit.edu 37 5 42718874 42718874 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:42718874A>G uc003jmt.2 + 10 1308 c.1265A>G c.(1264-1266)GAT>GGT p.D422G GHR_uc011cpq.1_Missense_Mutation_p.D235G NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 422 Cytoplasmic (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGGGAAGCAGATCTCTTATGC 0.443000 DDX4 54514 broad.mit.edu 37 5 55088488 55088488 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:55088488A>C uc003jqg.3 + 17 1396 c.1322A>C c.(1321-1323)AAA>ACA p.K441T DDX4_uc010ivz.2_Missense_Mutation_p.K421T|DDX4_uc003jqh.3_Missense_Mutation_p.K407T|DDX4_uc003jqj.2_Missense_Mutation_p.K292T NM_001136034 NP_001129506 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform 441 Helicase ATP-binding. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|skin(1) 2 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) AAACAGATCAAATACTTAGTT 0.328000 GPR98 84059 broad.mit.edu 37 5 89990213 89990213 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:89990213T>G uc003kju.2 + 33 7736 c.7640T>G c.(7639-7641)CTC>CGC p.L2547R GPR98_uc003kjt.2_Missense_Mutation_p.L253R|GPR98_uc003kjv.2_Missense_Mutation_p.L147R NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2547 Extracellular (Potential). 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) GAAGTTCACCTCATGAACATT 0.398000 PAM 5066 broad.mit.edu 37 5 102295728 102295728 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:102295728A>G uc003knw.2 + 12 1428 c.1055A>G c.(1054-1056)AAG>AGG p.K352R PAM_uc003kns.2_Missense_Mutation_p.K352R|PAM_uc003knt.2_Missense_Mutation_p.K352R|PAM_uc003knu.2_Missense_Mutation_p.K352R|PAM_uc003knv.2_Missense_Mutation_p.K352R|PAM_uc011cuz.1_Missense_Mutation_p.K255R|PAM_uc003knx.1_Missense_Mutation_p.K44R NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 352 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) ATTCCCGTGAAGTCTGATATG 0.338000 FBN2 2201 broad.mit.edu 37 5 127855063 127855063 + Splice_Site SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:127855063T>G uc003kuu.2 - 5 972 c.533_splice c.e5-1 p.P178_splice FBN2_uc003kuv.2_Splice_Site_p.P145_splice|FBN2_uc003kuw.3_Splice_Site_p.P178_splice|FBN2_uc003kux.1_Splice_Site_p.P178_splice NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACAGACAGCTGCATACAAAA 0.423000 MYOT 9499 broad.mit.edu 37 5 137222974 137222974 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:137222974T>A uc011cye.1 + 10 1414 c.1397T>A c.(1396-1398)CTT>CAT p.L466H PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.2_5'Flank|PKD2L2_uc003lby.2_5'Flank|MYOT_uc003lbv.2_Missense_Mutation_p.L466H|MYOT_uc011cyg.1_Missense_Mutation_p.L282H|MYOT_uc011cyh.1_Missense_Mutation_p.L351H NM_001135940 NP_001129412 Q9UBF9 MYOTI_HUMAN myotilin isoform b 466 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TATTTAGCACTTAATGGGAAA 0.388000 PCDHAC2 56134 broad.mit.edu 37 5 140347619 140347619 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:140347619T>G uc003lii.2 + 1 1508 c.1268T>G c.(1267-1269)GTG>GGG p.V423G 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_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.V423G NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 423 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTGGTGGTGAGCGGCCCA 0.577000 SH3TC2 79628 broad.mit.edu 37 5 148389903 148389903 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:148389903A>G uc003lpu.2 - 14 3409 c.3257T>C c.(3256-3258)CTT>CCT p.L1086P SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L730P|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L633P|SH3TC2_uc010jgx.2_Missense_Mutation_p.L1079P NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1086 TPR 5. binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTTCATAAAGTTTGAGAGC 0.532000 ANXA6 309 broad.mit.edu 37 5 150515865 150515865 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:150515865G>A uc003ltl.1 - 7 593 c.441C>T c.(439-441)ATC>ATT p.I147I ANXA6_uc011dcp.1_Silent_p.I115I|ANXA6_uc003ltm.1_Silent_p.I147I|ANXA6_uc003ltn.1_Intron|ANXA6_uc003lto.1_Intron NM_001155 NP_001146 P08133 ANXA6_HUMAN annexin VI isoform 1 147 Annexin 2. melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding 0 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTGTCGCCGATGATGTCAG 0.547000 FAT2 2196 broad.mit.edu 37 5 150908754 150908754 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:150908754A>G uc003lue.3 - 14 10024 c.10011T>C c.(10009-10011)GGT>GGC p.G3337G GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.G30G NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3337 Cadherin 30.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGATGACGTCACCCACAAGGG 0.517000 IL12B 3593 broad.mit.edu 37 5 158743698 158743698 + Missense_Mutation SNP T T A rs143277765 TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:158743698T>A uc003lxr.1 - 7 1024 c.982A>T c.(982-984)AGT>TGT p.S328C NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 328 cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCACCTAACTGCAGGGCACA 0.592000 OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) WWC1 23286 broad.mit.edu 37 5 167824784 167824784 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr5:167824784A>C uc003lzu.2 + 4 582 c.489A>C c.(487-489)GAA>GAC p.E163D WWC1_uc003lzv.2_Missense_Mutation_p.E163D|WWC1_uc011den.1_Missense_Mutation_p.E163D NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 163 Potential. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGAAAGCTGAAATTGCCACTG 0.468000 FOXQ1 94234 broad.mit.edu 37 6 1313596 1313596 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:1313596C>T uc003mtl.3 + 1 922 c.657C>T c.(655-657)CGC>CGT p.R219R NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 219 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) TCAGCCAccgcgcgccggtcc 0.343000 IP6K3 117283 broad.mit.edu 37 6 33703132 33703132 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:33703132T>C uc010jvf.2 - 3 658 c.122A>G c.(121-123)AAG>AGG p.K41R IP6K3_uc003ofb.2_Missense_Mutation_p.K41R NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 41 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 GACGAGGGGCTTGCACACCGT 0.627000 UBR2 23304 broad.mit.edu 37 6 42612227 42612227 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:42612227A>C uc011dur.1 + 20 2237 c.2237A>C c.(2236-2238)AAC>ACC p.N746T UBR2_uc011dus.1_Missense_Mutation_p.N391T|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 746 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GTTCAGCAGAACAATACTCTA 0.303000 DOPEY1 23033 broad.mit.edu 37 6 83845580 83845580 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:83845580A>C uc003pjs.1 + 20 3373 c.3113A>C c.(3112-3114)AAT>ACT p.N1038T DOPEY1_uc011dyy.1_Missense_Mutation_p.N1029T|DOPEY1_uc010kbl.1_Missense_Mutation_p.N1029T|DOPEY1_uc003pjt.2_5'Flank NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 1038 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTCATGCAAAATTTTGCCTGC 0.358000 LAMA4 3910 broad.mit.edu 37 6 112471810 112471810 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:112471810A>G uc003pvu.2 - 17 2385 c.2076T>C c.(2074-2076)GCT>GCC p.A692A LAMA4_uc003pvv.2_Silent_p.A685A|LAMA4_uc003pvt.2_Silent_p.A685A NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 692 Domain II and I.|Potential. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGCTAGTGTCAGCCACTGCTT 0.493000 C6orf170 221322 broad.mit.edu 37 6 121576500 121576500 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:121576500A>G uc003pyo.1 - 17 2060 c.1992T>C c.(1990-1992)TCT>TCC p.S664S C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Silent_p.S183S NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 664 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GGCTTACTGAAGAAACAGAAT 0.284000 SERINC1 57515 broad.mit.edu 37 6 122779730 122779730 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:122779730A>G uc003pyy.1 - 2 206 c.136T>C c.(136-138)TTG>CTG p.L46L NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 46 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) CCAACAAGCAAGAAAAGTGCA 0.408000 SHPRH 257218 broad.mit.edu 37 6 146254276 146254276 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr6:146254276T>G uc003qlf.2 - 14 3428 c.3029A>C c.(3028-3030)AAG>ACG p.K1010T SHPRH_uc003qld.2_Missense_Mutation_p.K1019T|SHPRH_uc003qle.2_Missense_Mutation_p.K1019T|SHPRH_uc003qlg.1_Missense_Mutation_p.K566T|SHPRH_uc003qlh.2_5'UTR NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 1010 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TCCACATTTCTTCTGCAAAGA 0.403000 THSD7A 221981 broad.mit.edu 37 7 11581104 11581104 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:11581104G>A uc003ssf.3 - 6 2016 c.1764C>T c.(1762-1764)AAC>AAT p.N588N NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 588 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTCCTTTCCGTTATCTGGCT 0.483000 HNSCC(18;0.044) AGR3 155465 broad.mit.edu 37 7 16900136 16900136 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:16900136C>T uc003sts.2 - 7 512 c.439G>A c.(439-441)GAT>AAT p.D147N NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 147 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) AGGGGTAAATCCCGAGGCTCA 0.423000 ABCB5 340273 broad.mit.edu 37 7 20762765 20762765 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:20762765G>A uc003suw.3 + 12 1759 c.1213G>A c.(1213-1215)GTG>ATG p.V405M ABCB5_uc010kuh.2_Missense_Mutation_p.V850M|ABCB5_uc003sux.1_Missense_Mutation_p.V28M NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 405 Cytoplasmic (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGTACTTGCCGTGACAGGAAT 0.393000 KBTBD2 25948 broad.mit.edu 37 7 32909212 32909212 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:32909212T>C uc003tdb.2 - 4 2276 c.1617A>G c.(1615-1617)CGA>CGG p.R539R AVL9_uc011kai.1_Intron NM_015483 NP_056298 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 539 Kelch 5. 0 GBM - Glioblastoma multiforme(11;0.0499) AGTGGGTTTCTCGCATAAACA 0.453000 FKBP9 11328 broad.mit.edu 37 7 33014900 33014900 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:33014900T>G uc003tdh.2 + 3 655 c.474T>G c.(472-474)AGT>AGG p.S158R AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Missense_Mutation_p.S211R|FKBP9_uc003tdg.2_Missense_Mutation_p.S158R|FKBP9_uc010kwm.2_Missense_Mutation_p.S65R NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 158 protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) AGCCCCCGAGTTGCCCTCGGA 0.478000 ASL 435 broad.mit.edu 37 7 65552354 65552354 + Missense_Mutation SNP C C G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:65552354C>G uc003tuo.2 + 9 747 c.636C>G c.(634-636)GAC>GAG p.D212E ASL_uc003tup.2_Missense_Mutation_p.D212E|ASL_uc003tur.2_Missense_Mutation_p.D186E|ASL_uc003tuq.2_Missense_Mutation_p.D212E NM_000048 NP_000039 P04424 ARLY_HUMAN argininosuccinate lyase isoform 1 212 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(2) 2 L-Arginine(DB00125) TGGGTGTGGACCGAGAGCTGC 0.592000 PCLO 27445 broad.mit.edu 37 7 82583320 82583320 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:82583320A>G uc003uhx.2 - 5 7238 c.6949T>C c.(6949-6951)TTG>CTG p.L2317L PCLO_uc003uhv.2_Silent_p.L2317L|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2248 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TAAGCTTCCAAAACTTCCAGA 0.428000 COL1A2 1278 broad.mit.edu 37 7 94041406 94041406 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:94041406C>T uc003ung.1 + 24 1848 c.1377C>T c.(1375-1377)ATC>ATT p.I459I COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 459 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTGGAAATATCGGCCCCGCTG 0.378000 HNSCC(75;0.22) DLX6 1750 broad.mit.edu 37 7 96639182 96639182 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:96639182C>T uc003uom.2 + 4 621 c.621C>T c.(619-621)AGC>AGT p.S207S DLX6AS_uc003uol.2_Intron|DLX6AS_uc010lfo.1_Intron NM_005222 NP_005213 P56179 DLX6_HUMAN distal-less homeobox 6 117 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CTCATGAGAGCGACCCCCTCC 0.567000 ZNF789 285989 broad.mit.edu 37 7 99077375 99077375 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:99077375T>C uc003uqq.1 + 3 335 c.116T>C c.(115-117)GTG>GCG p.V39A ZNF789_uc003uqp.2_Missense_Mutation_p.V39A|ZNF789_uc010lfw.1_5'UTR NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TACCGAGATGTGATGTTGGAG 0.488000 MUC17 140453 broad.mit.edu 37 7 100675453 100675453 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:100675453A>C uc003uxp.1 + 3 809 c.756A>C c.(754-756)CAA>CAC p.Q252H MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 252 Extracellular (Potential).|59 X approximate tandem repeats.|2.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTTCTGCTCAAGCCAGTTCAT 0.507000 MUC17 140453 broad.mit.edu 37 7 100686766 100686766 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:100686766T>G uc003uxp.1 + 3 12122 c.12069T>G c.(12067-12069)ACT>ACG p.T4023T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4023 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGCACTACTTCTGCATCAA 0.527000 CTTNBP2 83992 broad.mit.edu 37 7 117432071 117432071 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:117432071A>G uc003vjf.2 - 4 1271 c.1179T>C c.(1177-1179)GAT>GAC p.D393D NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 393 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TACTGGTTGGATCTGGTGTTG 0.537000 TSPAN12 23554 broad.mit.edu 37 7 120446622 120446622 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:120446622A>G uc003vjk.2 - 7 967 c.593T>C c.(592-594)CTC>CCC p.L198P TSPAN12_uc010lkj.2_Missense_Mutation_p.L71P NM_012338 NP_036470 O95859 TSN12_HUMAN transmembrane 4 superfamily member 12 198 Extracellular (Potential). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction 0 all_neural(327;0.117) AAGGTCACTGAGATCTTCCTG 0.403000 IQUB 154865 broad.mit.edu 37 7 123119949 123119949 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:123119949A>G uc003vkn.2 - 8 1887 c.1310T>C c.(1309-1311)CTT>CCT p.L437P IQUB_uc003vko.2_Missense_Mutation_p.L437P|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Missense_Mutation_p.L437P NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 437 ovary(3)|large_intestine(1) 4 TTTTTCCAGAAGTTCACACAG 0.393000 CNTNAP2 26047 broad.mit.edu 37 7 146825804 146825804 + Missense_Mutation SNP C C A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:146825804C>A uc003weu.1 + 7 1475 c.959C>A c.(958-960)CCT>CAT p.P320H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 320 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGAGGCATCCCTTTCTCTGGC 0.398000 HNSCC(39;0.1) CNTNAP2 26047 broad.mit.edu 37 7 147914383 147914383 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr7:147914383T>G uc003weu.1 + 19 3530 c.3014T>G c.(3013-3015)GTT>GGT p.V1005G NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1005 Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATAACAGATGTTGGTGCATTT 0.478000 HNSCC(39;0.1) CSMD1 64478 broad.mit.edu 37 8 2820827 2820827 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:2820827A>T uc011kwk.1 - 60 9764 c.9374T>A c.(9373-9375)ATG>AAG p.M3125K CSMD1_uc011kwj.1_Missense_Mutation_p.M2454K|CSMD1_uc010lrg.2_Missense_Mutation_p.M1016K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3125 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAACCGTCCATGCAGCTGTA 0.572000 BLK 640 broad.mit.edu 37 8 11421550 11421550 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:11421550A>G uc003wty.2 + 13 2032 c.1451A>G c.(1450-1452)GAG>GGG p.E484G BLK_uc003wtz.2_Missense_Mutation_p.E413G|BLK_uc003wua.2_Missense_Mutation_p.E320G NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 484 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) CCCACCTTCGAGTTCCTGCAG 0.741000 DEFB134 613211 broad.mit.edu 37 8 11851601 11851601 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:11851601T>C uc011kxn.1 - 2 89 c.89A>G c.(88-90)AAG>AGG p.K30R NM_001033019 NP_001028191 Q4QY38 DB134_HUMAN beta-defensin 134 precursor 30 defense response to bacterium extracellular region 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.159) ATAGCATTTCTTGTGCATTTC 0.363000 MTUS1 57509 broad.mit.edu 37 8 17504590 17504590 + Splice_Site SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:17504590T>G uc003wxv.2 - 14 3976 c.3502_splice c.e14-1 p.V1168_splice MTUS1_uc003wxt.2_Splice_Site_p.V415_splice|MTUS1_uc011kyg.1_Splice_Site_p.V313_splice|MTUS1_uc010lsy.2_Splice_Site|MTUS1_uc003wxw.2_Splice_Site_p.V1114_splice|MTUS1_uc003wxs.2_Splice_Site_p.V334_splice NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GTTGTCCACCTTGGCATAAAC 0.284000 MCM4 4173 broad.mit.edu 37 8 48883436 48883436 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:48883436G>A uc003xqk.1 + 12 1895 c.1800G>A c.(1798-1800)AAG>AAA p.K600K MCM4_uc003xql.1_Silent_p.K600K|MCM4_uc011ldi.1_Silent_p.K587K NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 600 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCATTGCAAAGGTGAGTCGCC 0.463000 PREX2 80243 broad.mit.edu 37 8 68942747 68942747 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:68942747A>G uc003xxv.1 + 6 586 c.559A>G c.(559-561)ACT>GCT p.T187A PREX2_uc003xxu.1_Missense_Mutation_p.T187A|PREX2_uc011lez.1_Missense_Mutation_p.T122A NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 187 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GCTGAAGCGGACTCCACGGAA 0.463000 ZFHX4 79776 broad.mit.edu 37 8 77764117 77764117 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:77764117A>G uc003yav.2 + 10 5212 c.4825A>G c.(4825-4827)AGT>GGT p.S1609G ZFHX4_uc003yau.1_Missense_Mutation_p.S1654G|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1609G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1609 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGATTCCATGAGTTTAGCAGC 0.478000 HNSCC(33;0.089) ZFPM2 23414 broad.mit.edu 37 8 106813442 106813442 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:106813442T>G uc003ymd.2 + 8 1155 c.1132T>G c.(1132-1134)TTA>GTA p.L378V ZFPM2_uc011lhs.1_Missense_Mutation_p.L109V|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 378 C2H2-type 3. 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) TCAGAGGGAGTTATTGCAGCA 0.507000 C8orf85 441376 broad.mit.edu 37 8 117954916 117954916 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:117954916A>C uc003yof.2 + 2 463 c.444A>C c.(442-444)AAA>AAC p.K148N NM_001025357 NP_001020528 Q4LEZ3 AARD_HUMAN alanine and arginine-rich domain-containing 148 0 AAAGCCCAAAAGATGATGCTG 0.303000 FER1L6 654463 broad.mit.edu 37 8 125082784 125082784 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:125082784A>G uc003yqw.2 + 30 4117 c.3911A>G c.(3910-3912)AAG>AGG p.K1304R uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1304 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTCAGAGGCAAGTCTACGGAA 0.408000 GSDMC 56169 broad.mit.edu 37 8 130761760 130761760 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:130761760A>C uc003ysr.2 - 13 2107 c.1225T>G c.(1225-1227)TTC>GTC p.F409V NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 409 mitochondrion ovary(2)|skin(1) 3 TCGTGTTGGAAGTCACTCAGC 0.527000 TG 7038 broad.mit.edu 37 8 133899716 133899716 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr8:133899716A>G uc003ytw.2 + 9 2140 c.2099A>G c.(2098-2100)AAC>AGC p.N700S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 700 Thyroglobulin type-1 6. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGTGCTTCAACTCAGAGTGC 0.522000 SMARCA2 6595 broad.mit.edu 37 9 2123719 2123719 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:2123719C>T uc003zhc.2 + 27 3862 c.3763C>T c.(3763-3765)CGG>TGG p.R1255W SMARCA2_uc003zhd.2_Missense_Mutation_p.R1255W|SMARCA2_uc010mha.2_Missense_Mutation_p.R1188W NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1255 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATGTCTCCAGCGGATGGACAT 0.542000 JAK2 3717 broad.mit.edu 37 9 5077540 5077540 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:5077540T>G uc010mhm.2 + 14 2065 c.1952T>G c.(1951-1953)CTT>CGT p.L651R JAK2_uc003ziw.2_Missense_Mutation_p.L651R NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 651 Protein kinase 1. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TTATGGAAACTTGAAGTTGCT 0.259000 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial IL33 90865 broad.mit.edu 37 9 6255985 6255985 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:6255985A>C uc003zjt.2 + 8 687 c.630A>C c.(628-630)AAA>AAC p.K210N IL33_uc011lmg.1_Missense_Mutation_p.K168N|IL33_uc011lmh.1_Missense_Mutation_p.K84N|IL33_uc003zju.1_Missense_Mutation_p.K210N NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 210 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) AGTGTGAAAAACCACTGCCAG 0.418000 BNC2 54796 broad.mit.edu 37 9 16436469 16436469 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:16436469T>G uc003zml.2 - 6 1863 c.1723A>C c.(1723-1725)AGT>CGT p.S575R BNC2_uc011lmw.1_Missense_Mutation_p.S480R|BNC2_uc003zmm.2_Missense_Mutation_p.S533R|BNC2_uc003zmq.1_Missense_Mutation_p.S589R|BNC2_uc003zmr.1_Missense_Mutation_p.S612R|BNC2_uc003zmp.1_Missense_Mutation_p.S603R|BNC2_uc010mij.1_Missense_Mutation_p.S497R|BNC2_uc011lmv.1_Missense_Mutation_p.S401R|BNC2_uc003zmo.1_Missense_Mutation_p.S497R|BNC2_uc003zmj.2_Missense_Mutation_p.S340R|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.S340R|BNC2_uc003zmn.1_Missense_Mutation_p.S340R NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 575 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GTGAGTAAACTTCTATAAAAT 0.517000 RNF38 152006 broad.mit.edu 37 9 36357894 36357894 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:36357894C>T uc003zzh.2 - 5 807 c.616G>A c.(616-618)GCA>ACA p.A206T RNF38_uc003zzi.2_Missense_Mutation_p.A156T|RNF38_uc003zzj.2_Missense_Mutation_p.A123T|RNF38_uc003zzk.2_Missense_Mutation_p.A123T|RNF38_uc003zzl.2_Missense_Mutation_p.A130T|RNF38_uc003zzm.2_Missense_Mutation_p.A123T NM_022781 NP_073618 Q9H0F5 RNF38_HUMAN ring finger protein 38 isoform 1 206 A -> T. zinc ion binding central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) CCATGTGGTGCCACTGTTGTT 0.453000 TRPM3 80036 broad.mit.edu 37 9 73240173 73240173 + Silent SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:73240173A>C uc004aid.2 - 13 1951 c.1707T>G c.(1705-1707)GCT>GCG p.A569A TRPM3_uc004ahu.2_Silent_p.A399A|TRPM3_uc004ahv.2_Silent_p.A381A|TRPM3_uc004ahw.2_Silent_p.A441A|TRPM3_uc004ahx.2_Silent_p.A428A|TRPM3_uc004ahy.2_Silent_p.A441A|TRPM3_uc004ahz.2_Silent_p.A428A|TRPM3_uc004aia.2_Silent_p.A416A|TRPM3_uc004aib.2_Silent_p.A416A|TRPM3_uc004aic.2_Silent_p.A569A NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 594 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGCAGCGATAAGCCCCGCCCA 0.582000 PTPDC1 138639 broad.mit.edu 37 9 96847701 96847701 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:96847701C>T uc004auf.1 + 3 591 c.251C>T c.(250-252)TCC>TTC p.S84F PTPDC1_uc004aug.1_Missense_Mutation_p.S84F|PTPDC1_uc004auh.1_Missense_Mutation_p.S136F|PTPDC1_uc010mrj.1_Missense_Mutation_p.S138F|PTPDC1_uc010mri.1_Missense_Mutation_p.S136F NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 84 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 GTTTACTCATCCTGGTGAGTG 0.483000 FOXE1 2304 broad.mit.edu 37 9 100616468 100616468 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:100616468G>A uc004axu.2 + 1 932 c.272G>A c.(271-273)CGC>CAC p.R91H NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 91 Fork-head. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 Acute lymphoblastic leukemia(62;0.158) CCCTTCTACCGCGACAACCCC 0.647000 LPPR1 54886 broad.mit.edu 37 9 104075105 104075105 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:104075105C>T uc004bbb.2 + 6 1061 c.662C>T c.(661-663)ACG>ATG p.T221M LPPR1_uc011lvi.1_Missense_Mutation_p.T197M|LPPR1_uc004bbc.2_Missense_Mutation_p.T221M|LPPR1_uc010mtc.2_Missense_Mutation_p.T205M NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN plasticity related gene 3 221 integral to membrane catalytic activity 0 ACAATCAAGACGAAGAGCAGT 0.547000 ZNF462 58499 broad.mit.edu 37 9 109736459 109736459 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:109736459T>C uc004bcz.2 + 9 7026 c.6737T>C c.(6736-6738)GTT>GCT p.V2246A ZNF462_uc010mto.2_Missense_Mutation_p.V2155A|ZNF462_uc004bda.2_Missense_Mutation_p.V2154A|ZNF462_uc011lvz.1_Missense_Mutation_p.V203A|ZNF462_uc004bdb.1_Missense_Mutation_p.V154A NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2246 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CACTCAGCAGTTCCCGAGGAG 0.517000 OR2K2 26248 broad.mit.edu 37 9 114090461 114090461 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:114090461A>C uc011lwp.1 - 1 253 c.253T>G c.(253-255)TTG>GTG p.L85V NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 114 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GATGACAGCAAGTTCACCAGC 0.458000 TLR4 7099 broad.mit.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:120475898T>G uc004bjz.2 + 3 1783 c.1492T>G c.(1492-1494)TTG>GTG p.L498V TLR4_uc004bka.2_Missense_Mutation_p.L458V|TLR4_uc004bkb.2_Missense_Mutation_p.L298V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 498 LRR 16.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GCTGAGAAACTTGACCTTCCT 0.448000 STRBP 55342 broad.mit.edu 37 9 125936031 125936031 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr9:125936031C>T uc004bns.2 - 5 745 c.315G>A c.(313-315)CTG>CTA p.L105L STRBP_uc004bnt.2_5'UTR|STRBP_uc004bnu.2_Silent_p.L91L|STRBP_uc004bnv.2_Silent_p.L105L NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 105 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 ACATTAAAACCAGCTCCAAGT 0.408000 WWC3 55841 broad.mit.edu 37 X 10047829 10047829 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:10047829T>C uc004csx.3 + 5 560 c.362T>C c.(361-363)GTG>GCG p.V121A WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 121 Potential. ovary(4) 4 GAAAAGGGGGTGGAGACCCTG 0.428000 GRPR 2925 broad.mit.edu 37 X 16142269 16142269 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:16142269T>G uc004cxj.2 + 1 846 c.193T>G c.(193-195)TTC>GTC p.F65V NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 65 Cytoplasmic (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) GATCAAGATCTTCTGTACAGT 0.493000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) REPS2 9185 broad.mit.edu 37 X 17080602 17080602 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:17080602T>C uc004cxv.1 + 9 1327 c.1156T>C c.(1156-1158)TAT>CAT p.Y386H REPS2_uc004cxw.1_Missense_Mutation_p.Y385H|REPS2_uc011miw.1_Missense_Mutation_p.Y245H NM_004726 NP_004717 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 386 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding skin(2)|central_nervous_system(1) 3 Hepatocellular(33;0.183) ATTTGATTCTTATTCTGAGTC 0.353000 MAOB 4129 broad.mit.edu 37 X 43662581 43662581 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:43662581T>G uc004dfz.3 - 4 526 c.350A>C c.(349-351)AAC>ACC p.N117T MAOB_uc011mkx.1_Missense_Mutation_p.N101T|MAOB_uc011mky.1_Missense_Mutation_p.N101T NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 117 Cytoplasmic. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) CCTCCAAAAGTTGTTATGATC 0.373000 ZNF630 57232 broad.mit.edu 37 X 47918755 47918755 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:47918755T>G uc004div.3 - 5 1328 c.1076A>C c.(1075-1077)AAG>ACG p.K359T ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K235T NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 359 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TAGATGTGACTTCTGGGAGAA 0.428000 FAM123B 139285 broad.mit.edu 37 X 63412453 63412453 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:63412453T>C uc004dvo.2 - 2 987 c.714A>G c.(712-714)AAA>AAG p.K238K NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 238 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 TTGGAGAAACTTTTGGCCCAG 0.532000 KIAA2022 340533 broad.mit.edu 37 X 73961294 73961294 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:73961294T>G uc004eby.2 - 3 3715 c.3098A>C c.(3097-3099)AAG>ACG p.K1033T NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 1033 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GATCACCAGCTTAGGGCTGCA 0.468000 TRPC5 7224 broad.mit.edu 37 X 111022219 111022219 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:111022219A>C uc004epl.1 - 10 3145 c.2226T>G c.(2224-2226)AAT>AAG p.N742K NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 742 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TTACCTTAAAATTTTCTTCTG 0.313000 USP26 83844 broad.mit.edu 37 X 132160633 132160633 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:132160633A>C uc010nrm.1 - 6 2086 c.1616T>G c.(1615-1617)GTC>GGC p.V539G USP26_uc011mvf.1_Missense_Mutation_p.V539G NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 539 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) GGAAATGATGACTTCCTGGTC 0.398000 ARHGEF6 9459 broad.mit.edu 37 X 135825841 135825841 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:135825841G>A uc004fab.2 - 5 1026 c.564C>T c.(562-564)TAC>TAT p.Y188Y ARHGEF6_uc011mwd.1_Silent_p.Y34Y|ARHGEF6_uc011mwe.1_Silent_p.Y34Y NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 188 SH3. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) CTCGTGTGACGTAAATGATGT 0.423000 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:153134383G>A uc004fjb.2 - 11 1400 c.1292C>T c.(1291-1293)GCG>GTG p.A431V L1CAM_uc004fjc.2_Missense_Mutation_p.A431V|L1CAM_uc010nuo.2_Missense_Mutation_p.A426V|L1CAM_uc004fjd.1_Missense_Mutation_p.A245V NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 431 Extracellular (Potential).|Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGATTGTCCGCAGTCAGGAT 0.617000 ARHGAP4 393 broad.mit.edu 37 X 153176006 153176006 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:153176006C>T uc004fjk.1 - 16 1918 c.1876G>A c.(1876-1878)GCG>ACG p.A626T ARHGAP4_uc004fjj.1_5'UTR|ARHGAP4_uc011mzf.1_Missense_Mutation_p.A603T|ARHGAP4_uc004fjl.1_Missense_Mutation_p.A666T|ARHGAP4_uc010nup.1_Intron NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 626 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGCACCGGCGCGGGCAGCCGC 0.711000 CDK12 51755 broad.mit.edu 37 17 37619152 37619153 + Frame_Shift_Ins INS - - T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr17:37619151_37619152G>GT uc010cvv.3 + 0 1413_1414 c.827_828G>GT c.(826-828)agtfs p.S276fs CDK12_uc010wef.1_Frame_Shift_Ins_p.S276fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.S276fs NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA. 276 RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding p.S276T(2) NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CAGTCGGTCAGTCCCCCTTACA 0.545 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) OR10H1 26539 broad.mit.edu 37 19 15918794 15918795 + Frame_Shift_Del DEL AG AG - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr19:15918793_15918794CAG>C uc002nbq.2 - 0 143_144 c.54_55CTG>G c.(52-57)tctgtcfs p.S18fs NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TGGGGGAAGACAGAGAAGCCGA 0.569 PTPRT 11122 broad.mit.edu 37 20 40739009 40739009 + Frame_Shift_Del DEL T T - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chr20:40739008_40739008GT>G uc002xkg.3 - 22 3403 c.3219_3219AC>C c.(3217-3219)aacfs p.N1073fs PTPRT_uc010ggj.3_Frame_Shift_Del_p.N1092fs|PTPRT_uc010ggi.3_Frame_Shift_Del_p.N276fs NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1073 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CTTCCGGGGGGTTGAGGAACT 0.627 TAF9B 51616 broad.mit.edu 37 X 77387203 77387205 + In_Frame_Del DEL AAG AAG - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d g.chrX:77387202_77387204TAAG>T uc004eda.3 - 6 730_732 c.659_661CTTA>A c.(658-663)cttatt>cAtt p.220_221LI>H NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN Homo sapiens TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa (TAF9B), mRNA. 220 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 TTGGTGGTAATAAGAATATTTTT 0.384