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 AJAP1 55966 broad.mit.edu 37 1 4772679 4772679 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:4772679T>G uc001alm.1 + 2 1130 c.749T>G c.(748-750)GTT>GGT p.V250G AJAP1_uc001aln.2_Missense_Mutation_p.V250G NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 250 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CCAGGTGGGGTTAGCACAACG 0.498 DNAJC11 55735 broad.mit.edu 37 1 6706032 6706032 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:6706032C>T uc001aof.2 - 8 817 c.711G>A c.(709-711)GTG>GTA p.V237V DNAJC11_uc010nzt.1_Silent_p.V199V|DNAJC11_uc001aog.2_Silent_p.V237V|DNAJC11_uc010nzu.1_Silent_p.V147V NM_018198 NP_060668 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 237 protein folding heat shock protein binding|unfolded protein binding ovary(1)|skin(1) 2 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) AGTTTGTTGTCACAAAGCTGG 0.532 PER3 8863 broad.mit.edu 37 1 7848192 7848192 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:7848192G>C uc001aoo.2 + 4 653 c.478G>C c.(478-480)GAT>CAT p.D160H PER3_uc009vmg.1_Missense_Mutation_p.D160H|PER3_uc009vmh.1_Missense_Mutation_p.D160H|PER3_uc001aop.2_Missense_Mutation_p.D160H|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.D160H NM_016831 NP_058515 P56645 PER3_HUMAN period 3 160 PAS 1. 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) TCGTAAGAAAGATGTCCTGGC 0.448 ENO1 2023 broad.mit.edu 37 1 8925441 8925441 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:8925441C>A uc001apj.1 - 8 919 c.768G>T c.(766-768)AAG>AAT p.K256N ENO1_uc001api.1_Missense_Mutation_p.K160N|ENO1_uc001apk.1_Missense_Mutation_p.K201N|ENO1_uc001apl.1_Missense_Mutation_p.K256N|ENO1_uc009vmi.1_Missense_Mutation_p.K213N|ENO1_uc009vmj.1_Missense_Mutation_p.K256N|ENO1_uc009vmk.1_Missense_Mutation_p.K130N|ENO1_uc009vml.1_Missense_Mutation_p.K256N NM_001428 NP_001419 P06733 ENOA_HUMAN enolase 1 256 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|kidney(1)|central_nervous_system(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) CCAGGTCATACTTCCCAGACC 0.557 CASZ1 54897 broad.mit.edu 37 1 10713947 10713947 + Missense_Mutation SNP C C A rs139467760 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:10713947C>A uc001aro.2 - 11 2487 c.2167G>T c.(2167-2169)GAC>TAC p.D723Y CASZ1_uc001arp.1_Missense_Mutation_p.D723Y|CASZ1_uc009vmx.2_Missense_Mutation_p.D747Y NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 723 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACAAGGTCGTCGTTGCTGGAC 0.692 VPS13D 55187 broad.mit.edu 37 1 12418626 12418626 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:12418626A>G uc001atv.2 + 50 10251 c.10110A>G c.(10108-10110)CAA>CAG p.Q3370Q VPS13D_uc001atw.2_Silent_p.Q3345Q|VPS13D_uc001atx.2_Silent_p.Q2557Q NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3369 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCATCCAGCAAGGAAACCGCC 0.547 SPEN 23013 broad.mit.edu 37 1 16260874 16260874 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:16260874C>A uc001axk.1 + 11 8343 c.8139C>A c.(8137-8139)GCC>GCA p.A2713A SPEN_uc010obp.1_Silent_p.A2672A NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2713 Interaction with RBPSUH (By similarity). interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGTGAACGCCACGGTGGGCA 0.592 CELA3A 10136 broad.mit.edu 37 1 22329520 22329520 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:22329520C>T uc001bfl.2 + 2 87 c.68C>T c.(67-69)TCT>TTT p.S23F CELA3B_uc009vqf.2_Intron NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 23 cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 CCACCTTCCTCTCACTCTTCC 0.532 EIF2C4 192670 broad.mit.edu 37 1 36297664 36297664 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:36297664A>C uc001bzj.1 + 10 1313 c.1123A>C c.(1123-1125)AGC>CGC p.S375R NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 375 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTAGGTGAAGAGCAACAGTAT 0.423 B4GALT2 8704 broad.mit.edu 37 1 44450633 44450633 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:44450633G>A uc001clg.2 + 4 1016 c.646G>A c.(646-648)GAT>AAT p.D216N B4GALT2_uc001clh.2_Missense_Mutation_p.D150N|B4GALT2_uc010okl.1_Missense_Mutation_p.D245N|B4GALT2_uc001cli.2_Missense_Mutation_p.D216N NM_003780 NP_003771 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 216 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CATCTTCAGCGATGTGGACCT 0.592 GPR61 83873 broad.mit.edu 37 1 110085853 110085853 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:110085853C>T uc001dxy.2 + 2 892 c.209C>T c.(208-210)ACG>ATG p.T70M NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 70 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) ATCGCCAAGACGCCTGCCCTC 0.607 CHI3L2 1117 broad.mit.edu 37 1 111773550 111773550 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:111773550A>G uc001eam.2 + 3 328 c.257A>G c.(256-258)AAC>AGC p.N86S CHI3L2_uc001ean.2_Missense_Mutation_p.N76S|CHI3L2_uc001eao.2_Missense_Mutation_p.N7S|CHI3L2_uc009wga.2_Missense_Mutation_p.N7S NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 86 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAGACCATCAACAGTCTCAAA 0.448 LCE3D 84648 broad.mit.edu 37 1 152552306 152552306 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:152552306C>A uc001fab.2 - 2 164 c.107G>T c.(106-108)GGC>GTC p.G36V NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 36 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TGGGGCACAGCCAGAGGAAGC 0.662 ASH1L 55870 broad.mit.edu 37 1 155448757 155448757 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:155448757G>A uc009wqq.2 - 3 4384 c.3904C>T c.(3904-3906)CGG>TGG p.R1302W ASH1L_uc001fkt.2_Missense_Mutation_p.R1302W|ASH1L_uc009wqr.1_Missense_Mutation_p.R1302W NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1302 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TGAGTGATCCGAATTTCACTT 0.398 GPATCH4 54865 broad.mit.edu 37 1 156567853 156567853 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:156567853T>G uc001fpm.2 - 5 361 c.322A>C c.(322-324)AAC>CAC p.N108H GPATCH4_uc001fpl.2_Missense_Mutation_p.N103H NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 103 intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TACAGCAAGTTGGGCTTGGGA 0.463 FCRL4 83417 broad.mit.edu 37 1 157557239 157557239 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:157557239A>C uc001fqw.2 - 5 810 c.674T>G c.(673-675)CTT>CGT p.L225R FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 225 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GTTGAAGTGAAGTGGGGTGTC 0.532 SPTA1 6708 broad.mit.edu 37 1 158590112 158590112 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:158590112A>T uc001fst.1 - 44 6464 c.6265T>A c.(6265-6267)TTG>ATG p.L2089M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2089 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGGGAGGCCAAGAAGTCCTCA 0.493 PPOX 5498 broad.mit.edu 37 1 161140706 161140706 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:161140706C>A uc001fyj.2 + 12 1548 c.1258C>A c.(1258-1260)CCC>ACC p.P420T PPOX_uc001fyn.2_Missense_Mutation_p.P128T|PPOX_uc001fyg.2_Missense_Mutation_p.P420T|PPOX_uc001fyl.2_Missense_Mutation_p.P386T|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.P258T|PPOX_uc001fyh.2_Missense_Mutation_p.P258T|PPOX_uc010pkg.1_Missense_Mutation_p.P258T|PPOX_uc009wuc.1_Missense_Mutation_p.P221T|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 420 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GAACTGCATTCCCCAGTATAC 0.473 Porphyria_Variegata OLFML2B 25903 broad.mit.edu 37 1 161967729 161967729 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:161967729G>A uc001gbu.2 - 6 1784 c.1360C>T c.(1360-1362)CCC>TCC p.P454S OLFML2B_uc010pkq.1_Missense_Mutation_p.P455S NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 454 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ACTGTGGTGGGAGGCACTGGG 0.617 BLZF1 8548 broad.mit.edu 37 1 169349731 169349731 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:169349731T>A uc001gfx.1 + 5 1118 c.681T>A c.(679-681)GAT>GAA p.D227E BLZF1_uc001gfy.2_Missense_Mutation_p.D227E|BLZF1_uc009wvp.1_Missense_Mutation_p.D204E NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 227 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) TAATGGCAGATGAGTTAACCA 0.368 PAPPA2 60676 broad.mit.edu 37 1 176661333 176661333 + Nonsense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:176661333C>T uc001gkz.2 + 6 3667 c.2503C>T c.(2503-2505)CAG>TAG p.Q835* PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 835 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCTAGTCTATCAGCAGTGGAC 0.502 FAM5C 339479 broad.mit.edu 37 1 190067498 190067498 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:190067498A>C uc001gse.1 - 8 2183 c.1951T>G c.(1951-1953)TTT>GTT p.F651V FAM5C_uc010pot.1_Missense_Mutation_p.F549V NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 651 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GGGTCAATAAACTCCAGAGGT 0.428 NR5A2 2494 broad.mit.edu 37 1 200008793 200008793 + Silent SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:200008793G>C uc001gvb.2 + 2 278 c.72G>C c.(70-72)GGG>GGC p.G24G NR5A2_uc001gvc.2_Intron|NR5A2_uc009wzh.2_5'UTR|NR5A2_uc010pph.1_5'Flank|NR5A2_uc009wzg.1_RNA NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 24 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) CAGGTGCTGGGCTTCCGGACC 0.667 SUSD4 55061 broad.mit.edu 37 1 223438057 223438057 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:223438057T>C uc001hnx.2 - 4 1273 c.639A>G c.(637-639)GGA>GGG p.G213G SUSD4_uc001hny.3_Silent_p.G213G|SUSD4_uc010puw.1_Silent_p.G53G|SUSD4_uc001hnz.2_Silent_p.G213G|SUSD4_uc010pux.1_Silent_p.G142G NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 213 Sushi 3.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) CAAGTTTAAATCCGGGAAAGC 0.512 LBR 3930 broad.mit.edu 37 1 225594439 225594439 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:225594439G>C uc001hoy.2 - 11 1553 c.1410C>G c.(1408-1410)TTC>TTG p.F470L LBR_uc001hoz.2_Missense_Mutation_p.F470L|LBR_uc001hpa.1_Missense_Mutation_p.F470L NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 470 cholesterol biosynthetic process integral to nuclear inner membrane chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity ovary(1)|skin(1) 2 Breast(184;0.165) GBM - Glioblastoma multiforme(131;0.117) AAAAGGCTTGGAAGCTGTAAA 0.398 OR2T6 254879 broad.mit.edu 37 1 248551054 248551054 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:248551054A>T uc001iei.1 + 1 145 c.145A>T c.(145-147)ATT>TTT p.I49F NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 49 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATCTTCCTGATTAACATAGA 0.473 OR2T3 343173 broad.mit.edu 37 1 248637452 248637452 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:248637452G>A uc001iel.1 + 1 801 c.801G>A c.(799-801)CCG>CCA p.P267P NM_001005495 NP_001005495 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACATGCTCCCGAGTTCCTACC 0.547 CUBN 8029 broad.mit.edu 37 10 16911646 16911646 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:16911646C>T uc001ioo.2 - 59 9495 c.9443G>A c.(9442-9444)CGG>CAG p.R3148Q CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.R504Q NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3148 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAATGTCTGCCGGAAAGACAT 0.468 MRC1 4360 broad.mit.edu 37 10 18196558 18196558 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:18196558G>A uc001ipm.2 + 28 4112 c.4009G>A c.(4009-4011)GCG>ACG p.A1337T NM_002438 NP_002429 P22897 MRC1_HUMAN mannose receptor C type 1 precursor 1337 Extracellular (Potential).|C-type lectin 8. receptor-mediated endocytosis endosome membrane|integral to plasma membrane mannose binding|receptor activity 0 AGCTTTACATGCGTCTTCTGG 0.413 SLC39A12 221074 broad.mit.edu 37 10 18270258 18270258 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:18270258G>T uc001ipo.2 + 6 1215 c.942G>T c.(940-942)AGG>AGT p.R314S SLC39A12_uc001ipn.2_Missense_Mutation_p.R314S|SLC39A12_uc001ipp.2_Missense_Mutation_p.R314S|SLC39A12_uc010qck.1_Missense_Mutation_p.R180S NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 314 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TCTCTGCTAGGCAGCTGGTGG 0.448 MLLT10 8028 broad.mit.edu 37 10 22002749 22002749 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:22002749C>T uc001iqs.2 + 15 2144 c.1796C>T c.(1795-1797)TCT>TTT p.S599F MLLT10_uc001iqt.2_Missense_Mutation_p.S583F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S583F|MLLT10_uc001ira.2_Missense_Mutation_p.S40F|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 599 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 AATGTAGTATCTGGCTCGGGA 0.413 T MLL|PICALM|CDK6 AL ANKRD30A 91074 broad.mit.edu 37 10 37421247 37421247 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:37421247A>C uc001iza.1 + 4 521 c.422A>C c.(421-423)AAT>ACT p.N141T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 197 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAAAATGCAAATGCGAATGCA 0.299 ZNF37A 7587 broad.mit.edu 37 10 38407159 38407159 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:38407159T>G uc001izk.2 + 8 1899 c.1080T>G c.(1078-1080)TGT>TGG p.C360W ZNF37A_uc001izl.2_Missense_Mutation_p.C360W|ZNF37A_uc001izm.2_Missense_Mutation_p.C360W NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 360 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 GTCATGAATGTGGGAAAACCT 0.428 ZNF37A 7587 broad.mit.edu 37 10 38407163 38407163 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:38407163A>G uc001izk.2 + 8 1903 c.1084A>G c.(1084-1086)AAA>GAA p.K362E ZNF37A_uc001izl.2_Missense_Mutation_p.K362E|ZNF37A_uc001izm.2_Missense_Mutation_p.K362E NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 362 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TGAATGTGGGAAAACCTTCTC 0.423 MYST4 23522 broad.mit.edu 37 10 76788893 76788893 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:76788893C>A uc001jwn.1 + 18 4804 c.4311C>A c.(4309-4311)GCC>GCA p.A1437A MYST4_uc001jwo.1_Silent_p.A1145A|MYST4_uc001jwp.1_Silent_p.A1254A NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1437 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) TGGAGTCTGCCGAAGTGGAGA 0.507 T CREBBP AML DLG5 9231 broad.mit.edu 37 10 79566548 79566548 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:79566548C>G uc001jzk.2 - 26 5005 c.4935G>C c.(4933-4935)AAG>AAC p.K1645N DLG5_uc001jzi.2_Missense_Mutation_p.K400N|DLG5_uc001jzj.2_Missense_Mutation_p.K1060N|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1645 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CGCGCTGGATCTTCTGGGCAT 0.607 MINPP1 9562 broad.mit.edu 37 10 89272968 89272968 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:89272968A>T uc001keu.2 + 3 1373 c.923A>T c.(922-924)GAT>GTT p.D308V MINPP1_uc009xtf.1_Intron|MINPP1_uc001kev.2_Intron NM_004897 NP_004888 Q9UNW1 MINP1_HUMAN multiple inositol polyphosphate histidine 308 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity urinary_tract(1) 1 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) TTTGACATAGATGATGCAAAG 0.328 PPP1R3C 5507 broad.mit.edu 37 10 93389974 93389974 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:93389974A>G uc001kho.2 - 2 796 c.664T>C c.(664-666)TTA>CTA p.L222L NM_005398 NP_005389 Q9UQK1 PPR3C_HUMAN protein phosphatase 1, regulatory (inhibitor) 222 Interaction with EPM2A.|CBM21. protein serine/threonine phosphatase activity breast(1) 1 Colorectal(252;0.235) ACAGGGGGTAAGTCAATGGCA 0.398 SLIT1 6585 broad.mit.edu 37 10 98806446 98806446 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:98806446G>A uc001kmw.2 - 18 2070 c.1818C>T c.(1816-1818)AGC>AGT p.S606S SLIT1_uc009xvh.1_Silent_p.S616S NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 606 LRR 14. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGAACATGCCGCTCCGGATGG 0.617 TMEM180 79847 broad.mit.edu 37 10 104230737 104230737 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:104230737C>G uc001kvt.2 + 5 786 c.567C>G c.(565-567)TTC>TTG p.F189L TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Missense_Mutation_p.F189L NM_024789 NP_079065 Q14CX5 TM180_HUMAN transmembrane protein 180 189 integral to membrane 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) AGGAGGATTTCTCCTCCTTCC 0.622 TAF5 6877 broad.mit.edu 37 10 105146935 105146935 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:105146935C>G uc001kwv.2 + 9 1856 c.1833C>G c.(1831-1833)CTC>CTG p.L611L TAF5_uc010qqq.1_Silent_p.L556L NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 611 WD 3. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ATAAAAGGCTCTGGGCTACAG 0.353 ZDHHC6 64429 broad.mit.edu 37 10 114205154 114205154 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:114205154T>C uc001kzv.2 - 2 465 c.41A>G c.(40-42)CAA>CGA p.Q14R VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.Q14R|ZDHHC6_uc009xya.1_Missense_Mutation_p.Q14R|VTI1A_uc001kzx.2_5'Flank NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 14 integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) CTTTAATTCTTGTAGATTTTC 0.393 TRUB1 142940 broad.mit.edu 37 10 116735016 116735016 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:116735016C>G uc001lcd.2 + 8 989 c.928C>G c.(928-930)CTT>GTT p.L310V TRUB1_uc010qsl.1_Missense_Mutation_p.L212V NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 310 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TTGCTCATCTCTTTTCCCAGC 0.408 PTPRE 5791 broad.mit.edu 37 10 129868079 129868079 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:129868079G>A uc001lkb.2 + 13 1410 c.1131G>A c.(1129-1131)ATG>ATA p.M377I PTPRE_uc009yat.2_Missense_Mutation_p.M388I|PTPRE_uc009yau.2_Missense_Mutation_p.M377I|PTPRE_uc001lkd.2_Missense_Mutation_p.M319I|PTPRE_uc010quq.1_Missense_Mutation_p.M278I NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 377 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GCCCTCAGATGGTTCAAACGG 0.537 OREG0020623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RNH1 6050 broad.mit.edu 37 11 500634 500634 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:500634G>A uc001lpk.1 - 2 1530 c.122C>T c.(121-123)ACG>ATG p.T41M RNH1_uc001lpl.1_Missense_Mutation_p.T41M|RNH1_uc001lpm.1_Missense_Mutation_p.T41M|RNH1_uc001lpn.1_Missense_Mutation_p.T41M|RNH1_uc001lpo.1_Missense_Mutation_p.T41M|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.T41M|RNH1_uc001lpt.1_Translation_Start_Site|RNH1_uc001lpq.1_Missense_Mutation_p.T41M|RNH1_uc001lpr.1_Missense_Mutation_p.T41M|RNH1_uc001lps.1_Missense_Mutation_p.T41M|RNH1_uc009ybx.1_Missense_Mutation_p.T41M NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 41 LRR 1. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGTGCTTCCGTGAGGCCACA 0.627 EIF4G2 1982 broad.mit.edu 37 11 10822090 10822090 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:10822090G>C uc001mjc.2 - 17 2166 c.1749C>G c.(1747-1749)AGC>AGG p.S583R EIF4G2_uc001mjb.2_Missense_Mutation_p.S377R|EIF4G2_uc009ygf.2_Missense_Mutation_p.S377R|EIF4G2_uc001mjd.2_Missense_Mutation_p.S545R NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 583 MI. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TGATTACTTTGCTTAACATCT 0.383 NAT10 55226 broad.mit.edu 37 11 34160817 34160817 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:34160817T>C uc001mvk.2 + 22 2535 c.2291T>C c.(2290-2292)CTT>CCT p.L764P NAT10_uc010ren.1_Missense_Mutation_p.L692P NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 764 Required for localization to the nucleolus and midbody. nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) GGAGGCTGGCTTGCAGCCTTC 0.572 CAT 847 broad.mit.edu 37 11 34477709 34477709 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:34477709A>G uc001mvm.2 + 7 946 c.863A>G c.(862-864)CAG>CGG p.Q288R CAT_uc009ykc.1_RNA NM_001752 NP_001743 P04040 CATA_HUMAN catalase 288 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ACATTTAATCAGGCAGAAACT 0.388 EXT2 2132 broad.mit.edu 37 11 44148397 44148397 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:44148397C>A uc001mxz.2 + 6 1305 c.971C>A c.(970-972)GCT>GAT p.A324D EXT2_uc010rfo.1_Missense_Mutation_p.A352D|EXT2_uc001mxy.2_Missense_Mutation_p.A337D|EXT2_uc009ykt.2_Missense_Mutation_p.A324D|EXT2_uc001mya.2_Missense_Mutation_p.A357D NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 324 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 CTTCGTGGAGCTCGGCTGGGC 0.478 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses OR5M10 390167 broad.mit.edu 37 11 56345186 56345186 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:56345186T>C uc001niz.1 - 1 12 c.12A>G c.(10-12)CCA>CCG p.P4P NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGTGTGGTTTGGGGACAACA 0.388 DDB1 1642 broad.mit.edu 37 11 61097044 61097044 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:61097044G>A uc001nrc.3 - 4 566 c.340C>T c.(340-342)CGC>TGC p.R114C DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R114C|DDB1_uc010rlg.1_5'Flank|DDB1_uc001nrd.2_Missense_Mutation_p.R114C|DDB1_uc009ynl.1_Intron NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 114 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TCTGAGGGGCGGCCAATGCGG 0.502 NER SLC22A10 387775 broad.mit.edu 37 11 63058038 63058038 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:63058038A>C uc009yor.2 + 1 609 c.401A>C c.(400-402)AAG>ACG p.K134T SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.K82T NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 134 Extracellular (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 ATTGTGACTAAGGTAAAGGGT 0.433 PCNXL3 399909 broad.mit.edu 37 11 65385537 65385537 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:65385537C>T uc001oey.2 + 6 704 c.704C>T c.(703-705)ACT>ATT p.T235I NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 235 integral to membrane 0 ATGGCTGACACTCCCATGAGC 0.647 PCNXL3 399909 broad.mit.edu 37 11 65385540 65385540 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:65385540C>A uc001oey.2 + 6 707 c.707C>A c.(706-708)CCC>CAC p.P236H NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 236 integral to membrane 0 GCTGACACTCCCATGAGCCCC 0.642 CLCF1 23529 broad.mit.edu 37 11 67132822 67132822 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:67132822C>T uc001okq.2 - 3 659 c.463G>A c.(463-465)GGC>AGC p.G155S LOC100130987_uc010rpo.1_Intron|CLCF1_uc010rpp.1_Missense_Mutation_p.G145S NM_013246 NP_037378 Q9UBD9 CLCF1_HUMAN cardiotrophin-like cytokine factor 1 precursor 155 B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity 0 BRCA - Breast invasive adenocarcinoma(15;2.39e-06) AGTGGGTAGCCCAGAGCTGCC 0.667 ME3 10873 broad.mit.edu 37 11 86158244 86158244 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:86158244C>T uc001pbz.2 - 11 1497 c.1243G>A c.(1243-1245)GCT>ACT p.A415T ME3_uc001pca.2_Missense_Mutation_p.A415T|ME3_uc009yvk.2_Missense_Mutation_p.A415T NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 415 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GCGATGGCAGCAACACCTACA 0.567 TYR 7299 broad.mit.edu 37 11 88911583 88911583 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:88911583G>A uc001pcs.2 + 1 544 c.462G>A c.(460-462)GGG>GGA p.G154G NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 154 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TCCCCATAGGGACCTATGGCC 0.408 Oculocutaneous_Albinism DYNC2H1 79659 broad.mit.edu 37 11 103027360 103027360 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:103027360A>G uc001pho.2 + 26 4132 c.3988A>G c.(3988-3990)AGA>GGA p.R1330G DYNC2H1_uc001phn.1_Missense_Mutation_p.R1330G|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1330 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATTTGGGAAAGAAAACTTGC 0.353 AMICA1 120425 broad.mit.edu 37 11 118071269 118071269 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:118071269G>C uc001psk.2 - 7 1005 c.831C>G c.(829-831)ATC>ATG p.I277M AMICA1_uc001psg.2_Missense_Mutation_p.I87M|AMICA1_uc001psh.2_Missense_Mutation_p.I238M|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Missense_Mutation_p.I267M|AMICA1_uc001psj.2_Missense_Mutation_p.I266M|AMICA1_uc010rxw.1_Missense_Mutation_p.I238M|AMICA1_uc010rxx.1_Missense_Mutation_p.I277M|AMICA1_uc001psl.1_Missense_Mutation_p.I233M NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 277 Helical; (Potential). blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TTCCCACAATGATCACCAACT 0.512 FOXRED1 55572 broad.mit.edu 37 11 126147540 126147540 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:126147540C>T uc001qdi.2 + 11 1464 c.1417C>T c.(1417-1419)CGC>TGC p.R473C FOXRED1_uc010sbn.1_Missense_Mutation_p.R303C|FOXRED1_uc010sbo.1_RNA|FOXRED1_uc010sbp.1_Missense_Mutation_p.R286C|FOXRED1_uc010sbq.1_Missense_Mutation_p.R340C|FOXRED1_uc001qdj.2_Missense_Mutation_p.R262C|FOXRED1_uc010sbr.1_Missense_Mutation_p.R459C|FOXRED1_uc001qdk.2_Missense_Mutation_p.R262C NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 473 integral to membrane|mitochondrion oxidoreductase activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) CCTCTTTACCCGCTTTTACTT 0.567 KIRREL3 84623 broad.mit.edu 37 11 126396494 126396494 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr11:126396494G>A uc001qea.2 - 3 583 c.222C>T c.(220-222)TAC>TAT p.Y74Y KIRREL3_uc001qeb.2_Silent_p.Y74Y|KIRREL3_uc001qec.1_Silent_p.Y74Y NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 74 Ig-like C2-type 1.|Extracellular (Potential). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CGAAGCCATCGTATTCGGGGA 0.617 WNK1 65125 broad.mit.edu 37 12 994221 994221 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:994221A>G uc001qio.3 + 19 4758 c.4251A>G c.(4249-4251)ACA>ACG p.T1417T WNK1_uc001qip.3_Silent_p.T1170T|WNK1_uc001qir.3_Silent_p.T590T NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1417 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAAGTATCACAATACCTGCAG 0.478 CACNA1C 775 broad.mit.edu 37 12 2558191 2558191 + Nonsense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:2558191T>A uc009zdu.1 + 4 840 c.527T>A c.(526-528)TTA>TAA p.L176* CACNA1C_uc009zdv.1_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkc.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.L176*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.L176*|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR|CACNA1C_uc001qkj.1_5'UTR|CACNA1C_uc001qkk.1_5'UTR|CACNA1C_uc001qkm.1_5'UTR NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 176 I.|Helical; Name=S2 of repeat I; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAAGCGTTTTTAAAAGTAATC 0.398 IFFO1 25900 broad.mit.edu 37 12 6658964 6658964 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:6658964C>A uc001qpd.1 - 4 1063 c.1029G>T c.(1027-1029)GTG>GTT p.V343V IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_5'Flank|IFFO1_uc001qpb.1_Silent_p.V20V|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.V343V|IFFO1_uc001qpf.1_Silent_p.V343V|IFFO1_uc001qoz.1_5'Flank|IFFO1_uc001qpc.1_Silent_p.V343V|IFFO1_uc001qpg.2_5'Flank NM_080730 NP_542768 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan isoform 2 343 intermediate filament 0 GCTGCTGAGCCACATCGCAGA 0.597 NANOG 79923 broad.mit.edu 37 12 7945604 7945604 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:7945604C>G uc009zfy.1 + 2 426 c.210C>G c.(208-210)ACC>ACG p.T70T NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 70 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) ATTCTTCCACCAGTCCCAAAG 0.443 CLEC1B 51266 broad.mit.edu 37 12 10150965 10150965 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:10150965A>C uc001qwu.2 - 2 279 c.79T>G c.(79-81)TCC>GCC p.S27A CLEC1B_uc009zhd.2_Intron NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 27 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CACCAGGAGGAGGATGCAGAG 0.557 KIAA1467 57613 broad.mit.edu 37 12 13221366 13221366 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:13221366T>G uc001rbi.2 + 8 1294 c.1271T>G c.(1270-1272)CTT>CGT p.L424R KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 424 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) GCATTGAGACTTCAAGGCCTG 0.458 ABCC9 10060 broad.mit.edu 37 12 21962818 21962818 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:21962818T>A uc001rfi.1 - 35 4303 c.4283A>T c.(4282-4284)AAG>ATG p.K1428M ABCC9_uc001rfh.2_Missense_Mutation_p.K1428M|ABCC9_uc001rfj.1_Missense_Mutation_p.K1392M|ABCC9_uc001rfg.2_5'Flank NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1428 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GACCATATTCTTCAGCTGAGC 0.333 ABCC9 10060 broad.mit.edu 37 12 21970208 21970208 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:21970208A>T uc001rfi.1 - 31 3825 c.3805T>A c.(3805-3807)TTG>ATG p.L1269M ABCC9_uc001rfh.2_Missense_Mutation_p.L1269M|ABCC9_uc001rfj.1_Missense_Mutation_p.L1233M NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1269 Cytoplasmic (Potential).|ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGTCAGCCAAGTTCCTCACA 0.383 CNTN1 1272 broad.mit.edu 37 12 41333276 41333276 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:41333276C>G uc001rmm.1 + 12 1481 c.1368C>G c.(1366-1368)GTC>GTG p.V456V CNTN1_uc009zjy.1_Silent_p.V456V|CNTN1_uc001rmn.1_Silent_p.V445V|CNTN1_uc001rmo.2_Silent_p.V456V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 456 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AGTGGCTTGTCAATAGCAGCA 0.363 PDZRN4 29951 broad.mit.edu 37 12 41900462 41900462 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:41900462C>T uc010skn.1 + 4 519 c.451C>T c.(451-453)CGT>TGT p.R151C PDZRN4_uc001rmq.3_Missense_Mutation_p.R92C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R90C|PDZRN4_uc001rmr.2_5'Flank NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 350 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GGCCAAGCTTCGTCCACCTAC 0.488 SLC38A4 55089 broad.mit.edu 37 12 47172136 47172136 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:47172136G>C uc001rpi.2 - 12 1408 c.1009C>G c.(1009-1011)CCT>GCT p.P337A SLC38A4_uc001rpj.2_Missense_Mutation_p.P337A NM_018018 NP_060488 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 337 Helical; (Potential). cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung SC(27;0.192)|Renal(347;0.236) ACTAGGATAGGAATTGCATAG 0.393 TMEM106C 79022 broad.mit.edu 37 12 48361948 48361948 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:48361948T>A uc001rqp.2 + 8 804 c.689T>A c.(688-690)ATG>AAG p.M230K TMEM106C_uc001rqo.2_Missense_Mutation_p.M211K|TMEM106C_uc001rqr.2_Missense_Mutation_p.M230K|TMEM106C_uc001rqq.2_Missense_Mutation_p.M211K NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a 230 endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) ATTGGCCTCATGACCCAGAGC 0.413 KRT72 140807 broad.mit.edu 37 12 52981470 52981470 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:52981470C>T uc001sar.2 - 7 1341 c.1255G>A c.(1255-1257)GCC>ACC p.A419T KRT72_uc001saq.2_Missense_Mutation_p.A419T|KRT72_uc010sns.1_Missense_Mutation_p.A377T|KRT72_uc010snt.1_Missense_Mutation_p.A231T NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 419 Coil 2.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) ATATCCAGGGCCAGCTTCAGG 0.642 KRT18 3875 broad.mit.edu 37 12 53346603 53346603 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:53346603G>T uc001sbe.2 + 8 1339 c.1270G>T c.(1270-1272)GAC>TAC p.D424Y KRT18_uc009zmn.1_3'UTR|KRT18_uc001sbf.1_3'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.D424Y|KRT18_uc009zmo.2_3'UTR NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 424 Tail. anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 TGAGACCAATGACACCAAAGT 0.502 ERBB3 2065 broad.mit.edu 37 12 56492652 56492652 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:56492652G>C uc001sjh.2 + 23 2995 c.2802G>C c.(2800-2802)CAG>CAC p.Q934H ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.Q291H|ERBB3_uc010sqc.1_Missense_Mutation_p.Q875H|ERBB3_uc009zok.2_Missense_Mutation_p.Q199H|ERBB3_uc001sjk.2_Missense_Mutation_p.Q175H|ERBB3_uc001sjl.2_Missense_Mutation_p.Q54H NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 934 Cytoplasmic (Potential).|Protein kinase. 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 lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CACAGCCCCAGATCTGCACAA 0.453 C12orf12 196477 broad.mit.edu 37 12 91348107 91348107 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:91348107C>T uc001tbj.2 - 1 847 c.413G>A c.(412-414)GGC>GAC p.G138D NM_152638 NP_689851 Q8TC90 CL012_HUMAN hypothetical protein LOC196477 138 central_nervous_system(1)|pancreas(1) 2 CTTCTTCCTGCCTGGGGGCTT 0.701 NUP37 79023 broad.mit.edu 37 12 102471233 102471233 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:102471233C>G uc001tjc.2 - 6 654 c.589G>C c.(589-591)GCC>CCC p.A197P NUP37_uc009zub.1_Missense_Mutation_p.A197P NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 197 WD 3. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 GCCTGTTGGGCCAAAAGATCA 0.373 DDX54 79039 broad.mit.edu 37 12 113617046 113617046 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:113617046C>T uc001tup.2 - 4 494 c.466G>A c.(466-468)GAG>AAG p.E156K DDX54_uc001tuq.3_Missense_Mutation_p.E156K NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 156 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 TTGAGCCGCTCGAACATTGGG 0.652 ZNF268 10795 broad.mit.edu 37 12 133780428 133780428 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr12:133780428C>A uc010tcf.1 + 6 2486 c.2156C>A c.(2155-2157)ACA>AAA p.T719K ZNF268_uc010tbv.1_Missense_Mutation_p.T558K|ZNF268_uc010tbw.1_Missense_Mutation_p.T558K|ZNF268_uc010tbx.1_Missense_Mutation_p.T579K|ZNF268_uc010tby.1_Missense_Mutation_p.T558K|ZNF268_uc010tbz.1_Missense_Mutation_p.T558K|ZNF268_uc010tca.1_Missense_Mutation_p.T558K|ZNF268_uc010tcb.1_Missense_Mutation_p.T579K|ZNF268_uc010tcc.1_Missense_Mutation_p.T558K|ZNF268_uc010tcd.1_Missense_Mutation_p.T558K|ZNF268_uc010tce.1_Missense_Mutation_p.T558K|ZNF268_uc010tcg.1_Missense_Mutation_p.T558K|ZNF268_uc010tch.1_Missense_Mutation_p.T719K NM_003415 NP_003406 Q14587 ZN268_HUMAN zinc finger protein 268 isoform a 719 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AGAACTCATACAGGAGAGAAA 0.418 MTUS2 23281 broad.mit.edu 37 13 29600629 29600629 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:29600629C>A uc001usl.3 + 1 1882 c.1824C>A c.(1822-1824)CCC>CCA p.P608P NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 598 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 GTGGGATCCCCAAGCCTGTCT 0.537 STARD13 90627 broad.mit.edu 37 13 33700296 33700296 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:33700296G>C uc001uuw.2 - 7 2130 c.2004C>G c.(2002-2004)CAC>CAG p.H668Q STARD13_uc001uuu.2_Missense_Mutation_p.H660Q|STARD13_uc001uuv.2_Missense_Mutation_p.H550Q|STARD13_uc001uux.2_Missense_Mutation_p.H633Q|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 668 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TTCTTTGGACGTGGACTATGA 0.498 ZC3H13 23091 broad.mit.edu 37 13 46542897 46542897 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:46542897C>T uc010tfw.1 - 13 3788 c.3782G>A c.(3781-3783)CGA>CAA p.R1261Q ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R1261Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R1261Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 1261 Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) AGAAGTACTTCGACTGGGTTC 0.348 LMO7 4008 broad.mit.edu 37 13 76417012 76417012 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:76417012A>G uc001vjv.2 + 22 4118 c.3358A>G c.(3358-3360)AAG>GAG p.K1120E LMO7_uc010thv.1_Missense_Mutation_p.K1071E|LMO7_uc001vjt.1_Missense_Mutation_p.K1019E|LMO7_uc010thw.1_Missense_Mutation_p.K997E|LMO7_uc001vjw.1_Missense_Mutation_p.K1026E NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1405 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGATATACCAAAGACAGAAGA 0.343 RNF219 79596 broad.mit.edu 37 13 79190393 79190393 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:79190393C>T uc001vkw.1 - 6 1562 c.1503G>A c.(1501-1503)GAG>GAA p.E501E uc001vku.1_RNA|RNF219_uc010afb.1_Silent_p.E311E|RNF219_uc010afc.2_Intron NM_024546 NP_078822 Q5W0B1 RN219_HUMAN ring finger protein 219 501 Ser-rich. zinc ion binding large_intestine(2) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) AGCCTGATTTCTCACTCAATT 0.388 ABCC4 10257 broad.mit.edu 37 13 95861791 95861791 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:95861791G>T uc001vmd.3 - 6 801 c.682C>A c.(682-684)CTA>ATA p.L228I ABCC4_uc010afk.2_Missense_Mutation_p.L228I|ABCC4_uc001vme.2_Missense_Mutation_p.L228I|ABCC4_uc010tih.1_Missense_Mutation_p.L153I|ABCC4_uc001vmf.2_Missense_Mutation_p.L185I|ABCC4_uc010afl.1_Missense_Mutation_p.L185I|ABCC4_uc010afm.1_Missense_Mutation_p.L241I NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 228 Helical; (Potential).|ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ATCCAGAGTAGGGCAGTCACT 0.478 MYO16 23026 broad.mit.edu 37 13 109753232 109753233 + Nonsense_Mutation DNP GC GC AG TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:109753232_109753233GC>AG uc001vqt.1 + 28 3495_3496 c.3369_3370GC>AG c.(3367-3372)TGGCAG>TGAGAG p.1123_1124WQ>*E MYO16_uc010agk.1_Nonsense_Mutation_p.1145_1146WQ>*E|MYO16_uc010tjh.1_Nonsense_Mutation_p.635_636WQ>*E NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1123_1124 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TACAAGGCTGGCAGGTTGGTGA 0.446 C13orf28 122258 broad.mit.edu 37 13 113030779 113030779 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr13:113030779G>T uc001vsd.1 + 1 111 c.80G>T c.(79-81)AGA>ATA p.R27I NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN hypothetical protein LOC122258 precursor 27 extracellular region 0 all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163) CTCCGGCCGAGAACCGTGATT 0.592 OR4K1 79544 broad.mit.edu 37 14 20404092 20404092 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:20404092C>A uc001vwj.1 + 1 267 c.267C>A c.(265-267)CGC>CGA p.R89R NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTATTGAGCGCAAGACTATCT 0.413 TOX4 9878 broad.mit.edu 37 14 21960502 21960502 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:21960502A>C uc001waz.2 + 6 961 c.858A>C c.(856-858)GCA>GCC p.A286A TOX4_uc001way.2_Silent_p.A156A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Silent_p.A263A|TOX4_uc010tlv.1_Silent_p.A156A NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 286 HMG box. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) ATCTGAAGGCACTGGCTGCTT 0.373 OR4E2 26686 broad.mit.edu 37 14 22133415 22133415 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:22133415C>T uc010tmd.1 + 1 119 c.119C>T c.(118-120)TCA>TTA p.S40L NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 40 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CTAACGCTTTCAGGGAACATT 0.433 FERMT2 10979 broad.mit.edu 37 14 53360060 53360060 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:53360060A>G uc001xad.2 - 4 532 c.477T>C c.(475-477)TCT>TCC p.S159S FERMT2_uc001xac.2_Silent_p.S159S|FERMT2_uc001xae.2_Silent_p.S159S|FERMT2_uc001xaf.2_Silent_p.S159S NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 159 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) CCTCATCTTCAGACTGGTCAT 0.398 EIF2S1 1965 broad.mit.edu 37 14 67831719 67831719 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:67831719G>C uc001xjg.2 + 2 376 c.235G>C c.(235-237)GAA>CAA p.E79Q NM_004094 NP_004085 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, 79 S1 motif. cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity ovary(1) 1 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) GGTGGACAAAGAAAAAGGTAA 0.318 PCNX 22990 broad.mit.edu 37 14 71495432 71495432 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:71495432T>A uc001xmo.2 + 16 3928 c.3482T>A c.(3481-3483)CTT>CAT p.L1161H PCNX_uc010are.1_Missense_Mutation_p.L1050H|PCNX_uc010arf.1_Missense_Mutation_p.L21H NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1161 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) ACAAGCCTGCTTGCAGCACTT 0.303 KIAA1409 57578 broad.mit.edu 37 14 94060180 94060180 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:94060180G>A uc001ybv.1 + 20 2739 c.2656G>A c.(2656-2658)GCA>ACA p.A886T KIAA1409_uc001ybs.1_Missense_Mutation_p.A886T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1063 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) GAGGTTTGAAGCAGGTACCTC 0.463 ATG2B 55102 broad.mit.edu 37 14 96797882 96797882 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr14:96797882T>C uc001yfi.2 - 11 1926 c.1561A>G c.(1561-1563)ATT>GTT p.I521V NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 521 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AAAGGATCAATGTGAAGCACA 0.388 GABRB3 2562 broad.mit.edu 37 15 26793220 26793220 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:26793220A>T uc001zaz.2 - 9 1284 c.1142T>A c.(1141-1143)GTC>GAC p.V381D GABRB3_uc010uae.1_Missense_Mutation_p.V296D|GABRB3_uc001zba.2_Missense_Mutation_p.V381D|GABRB3_uc001zbb.2_Missense_Mutation_p.V437D NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 381 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCGCCTGAGACCTCATTCAT 0.473 RYR3 6263 broad.mit.edu 37 15 34049680 34049680 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:34049680T>C uc001zhi.2 + 60 8658 c.8588T>C c.(8587-8589)CTC>CCC p.L2863P RYR3_uc010bar.2_Missense_Mutation_p.L2863P NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2863 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCCAGGTTCTCCTCCCGCTG 0.463 TTBK2 146057 broad.mit.edu 37 15 43045268 43045268 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:43045268T>C uc001zqo.2 - 14 2615 c.2176A>G c.(2176-2178)AGC>GGC p.S726G TTBK2_uc010bcy.2_Missense_Mutation_p.S657G NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 726 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TCTGTTCTGCTTCCTCCACTA 0.458 SEMA6D 80031 broad.mit.edu 37 15 48062707 48062707 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:48062707A>G uc010bek.2 + 19 2307 c.1947A>G c.(1945-1947)GAA>GAG p.E649E SEMA6D_uc001zvw.2_Silent_p.E587E|SEMA6D_uc001zvy.2_Silent_p.E649E|SEMA6D_uc001zvz.2_Silent_p.E593E|SEMA6D_uc001zwa.2_Missense_Mutation_p.K586R|SEMA6D_uc001zwb.2_Silent_p.E587E|SEMA6D_uc001zwc.2_Silent_p.E574E NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 649 Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TACGATGGGAAGTCCAGTCTG 0.438 KIAA1199 57214 broad.mit.edu 37 15 81176529 81176529 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:81176529A>G uc002bfw.1 + 6 891 c.631A>G c.(631-633)AGA>GGA p.R211G KIAA1199_uc010unn.1_Missense_Mutation_p.R211G NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 211 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TGACACCTATAGATCCAAGAA 0.473 ADAMTSL3 57188 broad.mit.edu 37 15 84488751 84488751 + Silent SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr15:84488751T>G uc002bjz.3 + 6 776 c.552T>G c.(550-552)ACT>ACG p.T184T ADAMTSL3_uc002bjy.1_Silent_p.T184T|ADAMTSL3_uc010bmt.1_Silent_p.T184T|ADAMTSL3_uc010bmu.1_Silent_p.T184T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 184 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGATGGAACTCGTTGCAACA 0.522 ABCA3 21 broad.mit.edu 37 16 2347452 2347452 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr16:2347452C>T uc002cpy.1 - 17 2853 c.2141G>A c.(2140-2142)CGC>CAC p.R714H ABCA3_uc010bsk.1_Missense_Mutation_p.R656H|ABCA3_uc010bsl.1_Missense_Mutation_p.R714H NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 714 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CACGATGGTGCGGTCACTTTT 0.632 CLEC16A 23274 broad.mit.edu 37 16 11114066 11114066 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr16:11114066C>T uc002dao.2 + 12 1550 c.1320C>T c.(1318-1320)ATC>ATT p.I440I CLEC16A_uc002dan.3_Silent_p.I422I NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 440 p.0?(1) ovary(1)|central_nervous_system(1) 2 AGATGGTGATCATGGAGCGTA 0.537 LDHD 197257 broad.mit.edu 37 16 75148041 75148041 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr16:75148041G>A uc002fdm.2 - 6 768 c.721C>T c.(721-723)CTC>TTC p.L241F LDHD_uc002fdn.2_Missense_Mutation_p.L218F NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 241 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 AGCCCCGTGAGGTTGTAGCCG 0.652 C17orf81 23587 broad.mit.edu 37 17 7160303 7160303 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:7160303C>A uc002gfg.1 + 6 692 c.585C>A c.(583-585)GGC>GGA p.G195G C17orf81_uc002gfj.2_Silent_p.G195G|C17orf81_uc010cmb.2_Silent_p.G195G|C17orf81_uc002gfh.1_Silent_p.G195G|C17orf81_uc002gfi.1_Silent_p.G195G|C17orf81_uc002gfl.1_Silent_p.G195G NM_203415 NP_981960 Q8TE02 DERP6_HUMAN S-phase 2 protein isoform 4 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding 0 GTACCATGGGCCAGGCCTCGG 0.612 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) DNAH9 1770 broad.mit.edu 37 17 11684396 11684396 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:11684396C>G uc002gne.2 + 39 7691 c.7623C>G c.(7621-7623)ATC>ATG p.I2541M DNAH9_uc010coo.2_Missense_Mutation_p.I1835M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2541 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAAACTCATCTATTTCATTG 0.552 PHF12 57649 broad.mit.edu 37 17 27233875 27233875 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:27233875G>A uc002hdg.1 - 14 3209 c.2679C>T c.(2677-2679)ATC>ATT p.I893I PHF12_uc010wbb.1_Silent_p.I875I NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 893 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CCAACTTACTGATGACACTCT 0.537 ADAP2 55803 broad.mit.edu 37 17 29281541 29281541 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:29281541G>C uc002hfx.2 + 9 1129 c.850G>C c.(850-852)GAG>CAG p.E284Q ADAP2_uc010csk.2_Missense_Mutation_p.E290Q|ADAP2_uc002hfy.2_Missense_Mutation_p.E283Q|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 284 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 GGATTGCCATGAGCGGAGGCT 0.512 NF1 4763 broad.mit.edu 37 17 29657378 29657378 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:29657378T>G uc002hgg.2 + 39 6007 c.5674T>G c.(5674-5676)TTA>GTA p.L1892V NF1_uc002hgh.2_Missense_Mutation_p.L1871V|NF1_uc002hgi.1_Missense_Mutation_p.L904V|NF1_uc010cso.2_Missense_Mutation_p.L80V NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1892 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CGAGGGCCAGTTACTAGAGAC 0.403 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) LIG3 3980 broad.mit.edu 37 17 33331399 33331399 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:33331399G>A uc002hik.1 + 20 3012 c.2904G>A c.(2902-2904)CAG>CAA p.Q968Q uc002hil.2_5'Flank NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 968 BRCT. base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) ACCTGGTACAGGAATTTGATA 0.572 Other_BER_factors CCL18 6362 broad.mit.edu 37 17 34391748 34391748 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:34391748G>T uc002hku.2 + 1 106 c.46G>T c.(46-48)GCC>TCC p.A16S NM_002988 NP_002979 P55774 CCL18_HUMAN small inducible cytokine A18 precursor 16 cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction extracellular space chemokine activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTGCACCATGGCCCTCTGCTC 0.567 MED1 5469 broad.mit.edu 37 17 37564295 37564295 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:37564295G>A uc002hrv.3 - 17 4391 c.4179C>T c.(4177-4179)ATC>ATT p.I1393I MED1_uc010wee.1_Silent_p.I1221I|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1393 Ser-rich.|Interaction with TP53. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GCTTACTGATGATAATTTTTG 0.458 HNSCC(31;0.082) PGAP3 93210 broad.mit.edu 37 17 37830295 37830295 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:37830295A>G uc002hsj.2 - 5 551 c.508T>C c.(508-510)TTC>CTC p.F170L PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Missense_Mutation_p.F149L|PGAP3_uc002hsk.2_Missense_Mutation_p.F119L|PGAP3_uc010cvz.2_Intron NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 170 Helical; (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 GAGGCACAGAAGTAGTCCATT 0.602 ETV4 2118 broad.mit.edu 37 17 41610164 41610164 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:41610164T>C uc002idw.2 - 8 817 c.689A>G c.(688-690)CAT>CGT p.H230R ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Missense_Mutation_p.H176R|ETV4_uc010czh.2_Missense_Mutation_p.H229R|ETV4_uc010wii.1_Missense_Mutation_p.H191R|ETV4_uc002idx.2_Missense_Mutation_p.H230R|ETV4_uc010wij.1_Missense_Mutation_p.H191R NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 230 Gln-rich. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CAGGGGATCATGGTATTCTTG 0.637 T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma FMNL1 752 broad.mit.edu 37 17 43309736 43309736 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:43309736G>T uc002iin.2 + 3 416 c.216G>T c.(214-216)GAG>GAT p.E72D FMNL1_uc002iio.2_Missense_Mutation_p.E27D|FMNL1_uc002iip.1_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 72 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 CTCCCCAGGAGCGGTTTCAAG 0.547 MAPT 4137 broad.mit.edu 37 17 44061042 44061042 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:44061042G>A uc002ijr.3 + 6 1192 c.872G>A c.(871-873)CGG>CAG p.R291Q MAPT_uc010dau.2_Missense_Mutation_p.R291Q|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 291 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) AGTGTAGGGCGGGCCAAAGGG 0.622 MPO 4353 broad.mit.edu 37 17 56350797 56350797 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:56350797G>A uc002ivu.1 - 9 1776 c.1599C>T c.(1597-1599)GCC>GCT p.A533A NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 533 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CCCTCCAGGAGGCAAAAAAGA 0.602 ABCA8 10351 broad.mit.edu 37 17 66920887 66920887 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr17:66920887G>A uc002jhp.2 - 10 1576 c.1397C>T c.(1396-1398)TCT>TTT p.S466F ABCA8_uc002jhq.2_Missense_Mutation_p.S466F|ABCA8_uc010wqq.1_Missense_Mutation_p.S466F|ABCA8_uc010wqr.1_Missense_Mutation_p.S405F|ABCA8_uc002jhr.2_Missense_Mutation_p.S466F NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 466 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) TTGTTCAAAAGAGTCATGAAA 0.453 PIAS2 9063 broad.mit.edu 37 18 44407934 44407934 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr18:44407934C>T uc002lck.2 - 11 1654 c.1496G>A c.(1495-1497)AGC>AAC p.S499N PIAS2_uc010dnp.2_Missense_Mutation_p.S197N|PIAS2_uc002lcl.2_Missense_Mutation_p.S499N|PIAS2_uc010xda.1_Missense_Mutation_p.S197N|PIAS2_uc002lcm.2_Missense_Mutation_p.S499N NM_004671 NP_004662 O75928 PIAS2_HUMAN protein inhibitor of activated STAT X isoform 499 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding ovary(2)|breast(1)|skin(1) 4 TTTGGTTGGGCTGCTTTGTGT 0.368 PQLC1 80148 broad.mit.edu 37 18 77679186 77679186 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr18:77679186C>G uc002lnl.2 - 5 778 c.606G>C c.(604-606)ATG>ATC p.M202I PQLC1_uc010dre.2_Missense_Mutation_p.M119I|PQLC1_uc002lnk.2_Missense_Mutation_p.M184I|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 202 PQ-loop 2. integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) CGGCCTACCTCATGCCCTCCG 0.602 OR2Z1 284383 broad.mit.edu 37 19 8841802 8841802 + Missense_Mutation SNP C C T rs58741481 byFrequency TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:8841802C>T uc010xkg.1 + 1 412 c.412C>T c.(412-414)CGC>TGC p.R138C NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 ACTTATGAGACGCCAGGTATG 0.557 MUC16 94025 broad.mit.edu 37 19 9076652 9076652 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:9076652A>G uc002mkp.2 - 3 10998 c.10794T>C c.(10792-10794)ACT>ACC p.T3598T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3599 Thr-rich.|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 TCAAGTTTGAAGTCATGTCTG 0.483 CACNA1A 773 broad.mit.edu 37 19 13346476 13346476 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:13346476C>G uc010dze.2 - 32 5258 c.5022G>C c.(5020-5022)CAG>CAC p.Q1674H CACNA1A_uc010xnd.1_Missense_Mutation_p.Q379H|CACNA1A_uc002mwx.3_Missense_Mutation_p.Q379H|CACNA1A_uc010dzc.2_Missense_Mutation_p.Q1199H|CACNA1A_uc002mwy.3_Missense_Mutation_p.Q1673H|CACNA1A_uc002mwv.3_Missense_Mutation_p.Q190H NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1674 IV.|Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGGTGTAACCCTGACGGAGAA 0.567 OREG0025293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) USHBP1 83878 broad.mit.edu 37 19 17370149 17370149 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:17370149A>G uc002nfs.1 - 7 1108 c.995T>C c.(994-996)CTA>CCA p.L332P USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.L268P|USHBP1_uc010eam.1_Missense_Mutation_p.L260P NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 332 PDZ domain binding ovary(1) 1 CCGCTGGCCTAGCTGCATGCT 0.572 C19orf61 56006 broad.mit.edu 37 19 44237015 44237015 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:44237015C>T uc002oxj.2 - 13 1822 c.1479G>A c.(1477-1479)AAG>AAA p.K493K C19orf61_uc002oxk.2_Silent_p.K493K NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 493 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) CTTACCAGTTCTTCTCGGTGA 0.582 PVR 5817 broad.mit.edu 37 19 45165008 45165008 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:45165008A>T uc002ozm.2 + 8 1483 c.1184A>T c.(1183-1185)CAT>CTT p.H395L PVR_uc010xxb.1_Missense_Mutation_p.H342L|PVR_uc010xxc.1_Missense_Mutation_p.H350L|PVR_uc002ozn.2_Missense_Mutation_p.H340L NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 395 Cytoplasmic (Potential). adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) CTCTTCTAGCATGTCTCCTAT 0.512 TRPM4 54795 broad.mit.edu 37 19 49671880 49671880 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:49671880A>T uc002pmw.2 + 6 755 c.683A>T c.(682-684)AAC>ATC p.N228I TRPM4_uc010emu.2_Missense_Mutation_p.N228I|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_Missense_Mutation_p.N54I|TRPM4_uc010emv.2_Missense_Mutation_p.N113I|TRPM4_uc010yal.1_5'UTR NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 228 Cytoplasmic (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) CTGGACTACAACTACTCGGCC 0.627 CEACAM18 729767 broad.mit.edu 37 19 51986375 51986375 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:51986375T>G uc002pwv.1 + 5 961 c.961T>G c.(961-963)TTC>GTC p.F321V NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 321 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CTGCTATTCCTTCCTGGATCT 0.522 LHCGR 3973 broad.mit.edu 37 2 48925758 48925758 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:48925758T>C uc002rwu.3 - 9 932 c.862A>G c.(862-864)AAA>GAA p.K288E GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 288 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ACTTACTCTTTTGTTGGCAAG 0.423 Familial_Male-Limited_Precocious_Puberty REG1A 5967 broad.mit.edu 37 2 79349196 79349196 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:79349196A>C uc002snz.2 + 4 369 c.266A>C c.(265-267)AAG>ACG p.K89T REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.K89T NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 89 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TCACTGATTAAGGAGAGTGGC 0.498 KDM3A 55818 broad.mit.edu 37 2 86669284 86669284 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:86669284C>T uc002sri.3 + 2 441 c.114C>T c.(112-114)GTC>GTT p.V38V KDM3A_uc010ytj.1_Silent_p.V38V|KDM3A_uc010ytk.1_Silent_p.V38V NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 38 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TGGAGCGCGTCGCCGAGTGGC 0.642 ZEB2 9839 broad.mit.edu 37 2 145157322 145157322 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:145157322A>C uc002tvu.2 - 8 1912 c.1432T>G c.(1432-1434)TGC>GGC p.C478G ZEB2_uc002tvv.2_Missense_Mutation_p.C472G|ZEB2_uc010zbm.1_Missense_Mutation_p.C449G|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.C507G NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 478 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCAGCCTTGCAGTCCATTTTT 0.408 LY75 4065 broad.mit.edu 37 2 160708776 160708776 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:160708776T>G uc002ubc.3 - 21 2888 c.2819A>C c.(2818-2820)AAA>ACA p.K940T LY75_uc002ubb.3_Missense_Mutation_p.K940T|LY75_uc010fos.2_Missense_Mutation_p.K940T NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 940 Extracellular (Potential). endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TGGGCTGTATTTCTCTAACGA 0.363 XIRP2 129446 broad.mit.edu 37 2 168096364 168096364 + Splice_Site SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:168096364G>T uc002udx.2 + 5 877 c.859_splice c.e5-1 p.E287_splice XIRP2_uc010fpn.2_Splice_Site_p.E320_splice|XIRP2_uc010fpo.2_Splice_Site_p.E287_splice|XIRP2_uc010fpp.2_Splice_Site_p.E287_splice|XIRP2_uc002udy.2_Splice_Site_p.E112_splice|XIRP2_uc010fpq.2_Splice_Site_p.E65_splice|XIRP2_uc010fpr.2_Splice_Site_p.E65_splice NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGTGCTTTCAGGAGGCAATTC 0.363 XIRP2 129446 broad.mit.edu 37 2 168105231 168105231 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:168105231A>C uc002udx.2 + 8 7347 c.7329A>C c.(7327-7329)AAA>AAC p.K2443N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.K2268N|XIRP2_uc010fpq.2_Missense_Mutation_p.K2221N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2268 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTTCCCCCAAAGTTGAACTGG 0.413 DHRS9 10170 broad.mit.edu 37 2 169938295 169938295 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:169938295T>C uc002uep.2 + 5 1708 c.204T>C c.(202-204)GCT>GCC p.A68A DHRS9_uc002ueq.2_Silent_p.A68A|DHRS9_uc010zdc.1_Silent_p.A128A|DHRS9_uc002uer.1_Silent_p.A68A|DHRS9_uc010zdd.1_Silent_p.A68A|DHRS9_uc010zde.1_Silent_p.A68A NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 68 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 GATCAACAGCTTTAAAGGCAG 0.478 TTN 7273 broad.mit.edu 37 2 179403391 179403391 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:179403391G>T uc010zfg.1 - 303 91685 c.91461C>A c.(91459-91461)GAC>GAA p.D30487E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24182E|TTN_uc010zfi.1_Missense_Mutation_p.D24115E|TTN_uc010zfj.1_Missense_Mutation_p.D23990E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31414 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) TGAATTGCTTGTCCTTAATAC 0.438 TTN 7273 broad.mit.edu 37 2 179435132 179435132 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:179435132C>G uc010zfg.1 - 275 68247 c.68023G>C c.(68023-68025)GAA>CAA p.E22675Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16370Q|TTN_uc010zfi.1_Missense_Mutation_p.E16303Q|TTN_uc010zfj.1_Missense_Mutation_p.E16178Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23602 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) TCTCTCCTTTCCACAATATAA 0.443 TTN 7273 broad.mit.edu 37 2 179577811 179577811 + Splice_Site SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:179577811C>A uc010zfg.1 - 90 23541 c.23317_splice c.e90+1 p.E7773_splice TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E4434_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) TGTAAACTGACCTCTCACAGT 0.348 TTN 7273 broad.mit.edu 37 2 179578671 179578671 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:179578671T>G uc010zfg.1 - 89 23206 c.22982A>C c.(22981-22983)CAG>CCG p.Q7661P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q4322P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8588 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) AACAGGGTTCTGCACCTCAAA 0.413 ZNF804A 91752 broad.mit.edu 37 2 185800895 185800895 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:185800895C>A uc002uph.2 + 4 1366 c.772C>A c.(772-774)CAT>AAT p.H258N NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 258 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CAGTGCTTGTCATCTTCAACA 0.433 BARD1 580 broad.mit.edu 37 2 215593709 215593709 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:215593709G>A uc002veu.2 - 11 2160 c.2025C>T c.(2023-2025)TGC>TGT p.C675C BARD1_uc010zjm.1_Missense_Mutation_p.A530V NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 675 BRCT 2. cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AATAGAAGTAGCATCCATCAA 0.403 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome CXCR1 3577 broad.mit.edu 37 2 219029003 219029003 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:219029003T>G uc002vhc.2 - 2 1051 c.932A>C c.(931-933)AAT>ACT p.N311T NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 311 Cytoplasmic (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 ATGGCGAAAATTTTGGCCGAT 0.542 PAX3 5077 broad.mit.edu 37 2 223066852 223066852 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:223066852C>T uc010fwo.2 - 8 1597 c.1231G>A c.(1231-1233)GCG>ACG p.A411T PAX3_uc002vmt.1_Missense_Mutation_p.A411T|PAX3_uc002vmy.1_Missense_Mutation_p.A410T|PAX3_uc002vmv.1_Missense_Mutation_p.A411T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 411 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGAGAGCGCGTAATCAGTC 0.547 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome PID1 55022 broad.mit.edu 37 2 229890734 229890734 + Missense_Mutation SNP T T C rs138008399 byFrequency TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:229890734T>C uc002vpr.3 - 3 405 c.367A>G c.(367-369)ACG>GCG p.T123A PID1_uc002vps.3_Missense_Mutation_p.T121A|PID1_uc002vpt.3_Missense_Mutation_p.T90A|PID1_uc002vpu.3_Missense_Mutation_p.T41A NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 123 PID. cytoplasm breast(3)|skin(1) 4 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CGGGCTAGCGTGTGCTTCTTC 0.547 RBM44 375316 broad.mit.edu 37 2 238725997 238725997 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:238725997T>A uc002vxi.3 + 3 570 c.438T>A c.(436-438)TTT>TTA p.F146L NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 145 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGGTTTTTTTTAATATTTTGG 0.318 PER2 8864 broad.mit.edu 37 2 239176732 239176732 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr2:239176732A>C uc002vyc.2 - 8 1169 c.932T>G c.(931-933)CTT>CGT p.L311R PER2_uc010znv.1_Missense_Mutation_p.L311R|PER2_uc010znw.1_Missense_Mutation_p.L311R|PER2_uc010fyx.1_Missense_Mutation_p.L311R NM_022817 NP_073728 O15055 PER2_HUMAN period 2 311 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) TGCCAGCAGAAGGCAGCAAAG 0.567 TMC2 117532 broad.mit.edu 37 20 2621798 2621798 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:2621798C>T uc002wgf.1 + 20 2537 c.2522C>T c.(2521-2523)GCC>GTC p.A841V TMC2_uc002wgg.1_Missense_Mutation_p.A825V NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 841 Cytoplasmic (Potential). integral to membrane ovary(3) 3 CCTCCCTCTGCCAGCCAAAGC 0.567 PLCB4 5332 broad.mit.edu 37 20 9459579 9459579 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:9459579G>A uc002wnf.2 + 37 3607 c.3471G>A c.(3469-3471)ATG>ATA p.M1157I PLCB4_uc010gbx.2_Missense_Mutation_p.M1169I|PLCB4_uc002wne.2_Missense_Mutation_p.A1170T|PLCB4_uc002wnh.2_Missense_Mutation_p.M1004I NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1157 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 CGAAGGAGATGCAGCAGATGG 0.453 TMEM90B 79953 broad.mit.edu 37 20 24523880 24523880 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:24523880G>A uc002wtw.1 + 2 780 c.147G>A c.(145-147)CAG>CAA p.Q49Q NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 49 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 CCCAGTACCAGAGCCACCGGG 0.597 PXMP4 11264 broad.mit.edu 37 20 32295542 32295542 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:32295542G>A uc002wzv.2 - 4 732 c.609C>T c.(607-609)CTC>CTT p.L203L PXMP4_uc002wzw.2_3'UTR|PXMP4_uc010zuh.1_3'UTR NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a 203 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 TGTTATAGACGAGGAAGTCTG 0.537 NCOA6 23054 broad.mit.edu 37 20 33330312 33330312 + Nonsense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:33330312C>A uc002xav.2 - 12 6319 c.3748G>T c.(3748-3750)GGA>TGA p.G1250* NCOA6_uc002xaw.2_Nonsense_Mutation_p.G1250* NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1250 NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GGGAAGAGTCCTGCTATGGAG 0.473 RALGAPB 57148 broad.mit.edu 37 20 37121694 37121694 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:37121694C>G uc002xiw.2 + 3 565 c.308C>G c.(307-309)TCT>TGT p.S103C RALGAPB_uc010zvz.1_Missense_Mutation_p.S103C|RALGAPB_uc002xix.2_Missense_Mutation_p.S103C|RALGAPB_uc002xiy.1_Missense_Mutation_p.S103C|RALGAPB_uc002xiz.2_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 103 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CCAAAAGATTCTATTCCATTG 0.353 PPP1R16B 26051 broad.mit.edu 37 20 37529251 37529251 + Silent SNP G G A rs34142152 byFrequency TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:37529251G>A uc002xje.2 + 5 684 c.495G>A c.(493-495)TCG>TCA p.S165S PPP1R16B_uc010ggc.2_Silent_p.S165S NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 165 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTGTCAACTCGGATGGGAACA 0.587 TOP1 7150 broad.mit.edu 37 20 39750719 39750719 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:39750719G>C uc002xjl.2 + 20 2365 c.2119G>C c.(2119-2121)GAC>CAC p.D707H uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 707 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) TCAAGCCACAGACCGAGAGGA 0.468 T NUP98 AML* PTPRT 11122 broad.mit.edu 37 20 41514542 41514542 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:41514542T>C uc002xkg.2 - 2 303 c.119A>G c.(118-120)AAC>AGC p.N40S PTPRT_uc010ggj.2_Missense_Mutation_p.N40S NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 40 Extracellular (Potential).|MAM. 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 skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATAACCACAGTTGCTGTAGTG 0.498 JPH2 57158 broad.mit.edu 37 20 42788489 42788489 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:42788489C>T uc002xli.1 - 2 1811 c.938G>A c.(937-939)CGC>CAC p.R313H NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 313 MORN 7.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCCTCGTAGCGGAGGCCACT 0.667 SEMG2 6407 broad.mit.edu 37 20 43850999 43850999 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:43850999T>A uc010ggz.2 + 2 783 c.726T>A c.(724-726)CAT>CAA p.H242Q SEMG2_uc002xnk.2_Missense_Mutation_p.H242Q|SEMG2_uc002xnl.2_Missense_Mutation_p.H242Q NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 242 2-2.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) ATCCTGCACATCAAGACAGAC 0.378 KCNB1 3745 broad.mit.edu 37 20 47989961 47989961 + Silent SNP C C T rs139458439 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:47989961C>T uc002xur.1 - 2 2300 c.2136G>A c.(2134-2136)ACG>ACA p.T712T KCNB1_uc002xus.1_Silent_p.T712T NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 712 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGTCCAAAAGCGTGGCACACT 0.597 KCNQ2 3785 broad.mit.edu 37 20 62070073 62070073 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr20:62070073C>T uc002yey.1 - 7 1105 c.928G>A c.(928-930)GGC>AGC p.G310S KCNQ2_uc002yez.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfa.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfb.1_Missense_Mutation_p.G310S|KCNQ2_uc011aax.1_Missense_Mutation_p.G310S|KCNQ2_uc002yfc.1_Missense_Mutation_p.G310S NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 310 Helical; Name=Segment S6; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCCAAGATGCCCTGCAATTCA 0.607 SAMSN1 64092 broad.mit.edu 37 21 15889299 15889299 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr21:15889299C>T uc002yju.1 - 3 275 c.193G>A c.(193-195)GGT>AGT p.G65S SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G133S NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 65 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TTACCCAAACCGCCTCCATTA 0.338 TIMP3 7078 broad.mit.edu 37 22 33245467 33245467 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr22:33245467G>C uc003anb.2 + 2 1336 c.150G>C c.(148-150)AAG>AAC p.K50N SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN tissue inhibitor of metalloproteinase 3 50 NTR. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding lung(1) 1 TGGGGAAGAAGCTGGTAAAGG 0.542 SCN5A 6331 broad.mit.edu 37 3 38597190 38597190 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:38597190T>G uc003cio.2 - 26 4693 c.4499A>C c.(4498-4500)AAG>ACG p.K1500T SCN5A_uc003cin.2_Missense_Mutation_p.K1499T|SCN5A_uc003cil.3_Missense_Mutation_p.K1500T|SCN5A_uc010hhi.2_Missense_Mutation_p.K1482T|SCN5A_uc010hhk.2_Missense_Mutation_p.K1499T|SCN5A_uc011ayr.1_Missense_Mutation_p.K1446T NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1500 K -> N.|Missing (in BRS1). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGAGCCCAGCTTCTTCATGGC 0.567 CELSR3 1951 broad.mit.edu 37 3 48697355 48697355 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:48697355G>A uc003cul.2 - 1 2994 c.2713C>T c.(2713-2715)CGC>TGC p.R905C CELSR3_uc003cuf.1_Missense_Mutation_p.R975C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 905 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCATCAATGCGGAACTGGGGC 0.423 CAMKV 79012 broad.mit.edu 37 3 49897278 49897278 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:49897278G>A uc003cxt.1 - 11 1172 c.979C>T c.(979-981)CGG>TGG p.R327W CAMKV_uc011bcy.1_Missense_Mutation_p.R252W|CAMKV_uc003cxv.1_Missense_Mutation_p.R299W|CAMKV_uc003cxw.1_Missense_Mutation_p.R159W|CAMKV_uc003cxx.1_Missense_Mutation_p.R159W|CAMKV_uc003cxu.2_Missense_Mutation_p.R327W|CAMKV_uc011bcz.1_Missense_Mutation_p.R290W|CAMKV_uc011bda.1_Missense_Mutation_p.R284W NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 327 cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCTGGTGCCCGGAGCCGTTTC 0.637 SEMA3B 7869 broad.mit.edu 37 3 50311057 50311057 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:50311057A>G uc003cyu.2 + 10 1144 c.902A>G c.(901-903)GAC>GGC p.D301G SEMA3B_uc003cyt.2_Missense_Mutation_p.D301G|SEMA3B_uc003cyv.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyw.2_5'UTR|SEMA3B_uc010hli.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyx.2_Missense_Mutation_p.D188G|SEMA3B_uc003cyy.2_5'UTR|SEMA3B_uc011bdo.1_5'UTR NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 301 Sema. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GTCGAGGGCGACACCCACTTC 0.716 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PXK 54899 broad.mit.edu 37 3 58376310 58376310 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:58376310G>T uc003djz.1 + 5 489 c.390G>T c.(388-390)GAG>GAT p.E130D PXK_uc003djx.1_Missense_Mutation_p.E130D|PXK_uc003djy.1_Missense_Mutation_p.E113D|PXK_uc003dka.1_Missense_Mutation_p.E130D|PXK_uc003dkb.1_Missense_Mutation_p.E47D|PXK_uc003dkc.1_Missense_Mutation_p.E113D|PXK_uc011bfe.1_Missense_Mutation_p.E97D|PXK_uc010hnj.1_Missense_Mutation_p.E97D|PXK_uc003dkd.1_5'UTR|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 130 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TCTTTGCAGAGATTGCCTTGC 0.413 ROBO2 6092 broad.mit.edu 37 3 77657104 77657104 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:77657104G>T uc003dpy.3 + 21 3935 c.3292G>T c.(3292-3294)GGC>TGC p.G1098C ROBO2_uc003dpz.2_Missense_Mutation_p.G1102C|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.G1102C|ROBO2_uc003dqa.2_Missense_Mutation_p.G225C NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 1098 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACAAGAAAATGGGTAAAGATA 0.478 PARP14 54625 broad.mit.edu 37 3 122422676 122422676 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:122422676G>C uc003efq.3 + 7 3228 c.3169G>C c.(3169-3171)GAG>CAG p.E1057Q PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.E774Q|PARP14_uc003efs.1_Missense_Mutation_p.E774Q NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1057 Macro 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) AGCTGGACCAGAGCTCCAGGA 0.507 TMEM22 80723 broad.mit.edu 37 3 136573735 136573735 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:136573735G>T uc003erf.3 + 2 647 c.433G>T c.(433-435)GTC>TTC p.V145F TMEM22_uc003erg.3_Missense_Mutation_p.V145F|TMEM22_uc010hub.2_Missense_Mutation_p.V145F NM_001097600 NP_001091069 Q8TBE7 TMM22_HUMAN transmembrane protein 22 145 DUF6 1.|Helical; (Potential). Golgi apparatus|integral to membrane ovary(1) 1 TGTTTTTCAGGTCTTATCTGT 0.413 PRR23B 389151 broad.mit.edu 37 3 138739163 138739163 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:138739163G>A uc003esy.1 - 1 606 c.341C>T c.(340-342)GCG>GTG p.A114V NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 114 breast(1) 1 GTCGTGCTGCGCTCCTGAGCG 0.632 XRN1 54464 broad.mit.edu 37 3 142102207 142102207 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:142102207C>T uc003eus.2 - 22 2618 c.2551G>A c.(2551-2553)GAT>AAT p.D851N XRN1_uc010huu.2_Missense_Mutation_p.D317N|XRN1_uc003eut.2_Missense_Mutation_p.D851N|XRN1_uc003euu.2_Missense_Mutation_p.D851N|XRN1_uc003euv.1_Missense_Mutation_p.D712N NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 851 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 GGAAACAAATCATCCAATGTT 0.348 AHSG 197 broad.mit.edu 37 3 186335007 186335007 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr3:186335007A>G uc003fqk.3 + 4 522 c.441A>G c.(439-441)CAA>CAG p.Q147Q AHSG_uc003fqj.2_Silent_p.Q147Q|AHSG_uc003fql.3_Silent_p.Q148Q|AHSG_uc003fqm.3_Silent_p.Q146Q|AHSG_uc010hyp.2_Silent_p.Q110Q NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 147 Cystatin fetuin-A-type 2. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) AGGTGTGCCAAGACTGCCCCC 0.637 OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) STK32B 55351 broad.mit.edu 37 4 5468493 5468493 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:5468493C>A uc003gih.1 + 10 1037 c.973C>A c.(973-975)CTT>ATT p.L325I STK32B_uc010ida.1_Missense_Mutation_p.L278I NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 325 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ATCCAAGCCACTTCACAAAAA 0.498 COX18 285521 broad.mit.edu 37 4 73927606 73927606 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:73927606C>T uc003hgm.1 - 5 858 c.752G>A c.(751-753)CGT>CAT p.R251H COX18_uc003hgn.1_Missense_Mutation_p.R100H|COX18_uc011cbc.1_Missense_Mutation_p.R252H|COX18_uc010iih.1_Missense_Mutation_p.R251H NM_173827 NP_776188 Q8N8Q8 COX18_HUMAN mitochondrial COX18 precursor 251 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity 0 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CGTCTGAAAACGAGACATTCC 0.368 UNC5C 8633 broad.mit.edu 37 4 96091445 96091445 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:96091445C>T uc003htp.1 - 15 2644 c.2490G>A c.(2488-2490)GCG>GCA p.A830A uc003hto.2_5'Flank NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 830 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGATGGTGTTCGCAGGATCCA 0.552 C4orf21 55345 broad.mit.edu 37 4 113539455 113539455 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:113539455A>G uc003iau.2 - 6 1954 c.1743T>C c.(1741-1743)TGT>TGC p.C581C C4orf21_uc003iaw.2_Silent_p.C581C NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CAATCTCTTCACAGTTTGTAT 0.378 LRBA 987 broad.mit.edu 37 4 151836777 151836777 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:151836777A>C uc010ipj.2 - 8 1471 c.997T>G c.(997-999)TTT>GTT p.F333V LRBA_uc003ilu.3_Missense_Mutation_p.F333V|LRBA_uc010ipk.1_Missense_Mutation_p.F252V NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 333 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GTGTTGACAAACCATGTTATC 0.338 FGB 2244 broad.mit.edu 37 4 155487704 155487704 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:155487704A>G uc003ioa.3 + 3 409 c.370A>G c.(370-372)AGA>GGA p.R124G FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.R121G|FGB_uc010ipv.2_Missense_Mutation_p.R62G|FGB_uc010ipw.2_Missense_Mutation_p.R121G|FGB_uc003ioc.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 124 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAGGCCAATCAGAAATAGTGT 0.413 FNIP2 57600 broad.mit.edu 37 4 159825674 159825674 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:159825674A>T uc003iqe.3 + 17 3506 c.3323A>T c.(3322-3324)TAT>TTT p.Y1108F C4orf45_uc003iqf.1_Intron|C4orf45_uc010iqt.1_Intron NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 1108 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) CATTCTCCTTATGTGGCTCAA 0.368 FSTL5 56884 broad.mit.edu 37 4 162307171 162307171 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:162307171C>T uc003iqh.2 - 16 2708 c.2272G>A c.(2272-2274)GGT>AGT p.G758S FSTL5_uc003iqi.2_Missense_Mutation_p.G757S|FSTL5_uc010iqv.2_Missense_Mutation_p.G748S|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 758 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTTGAACTACCGTAGATGTTA 0.418 UFSP2 55325 broad.mit.edu 37 4 186336377 186336377 + Nonsense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:186336377T>A uc003ixo.2 - 6 733 c.616A>T c.(616-618)AAA>TAA p.K206* UFSP2_uc003ixn.2_Nonsense_Mutation_p.K96*|UFSP2_uc003ixq.2_Nonsense_Mutation_p.K96*|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 206 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) AGATTTTTTTTCCCTGGTAAT 0.343 PDLIM3 27295 broad.mit.edu 37 4 186423589 186423589 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:186423589G>A uc003ixw.3 - 8 1078 c.954C>T c.(952-954)TTC>TTT p.F318F PDLIM3_uc003ixx.3_Silent_p.F270F|PDLIM3_uc010isi.2_RNA NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 318 LIM zinc-binding. sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) CGGCACACACGAAGCACTCAG 0.532 ADCY2 108 broad.mit.edu 37 5 7707834 7707834 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:7707834T>C uc003jdz.1 + 9 1351 c.1284T>C c.(1282-1284)TCT>TCC p.S428S ADCY2_uc011cmo.1_Silent_p.S248S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 428 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TTCACATTTCTTCTGTCACCC 0.388 SEMA5A 9037 broad.mit.edu 37 5 9066581 9066581 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:9066581C>T uc003jek.2 - 17 2963 c.2251G>A c.(2251-2253)GAA>AAA p.E751K NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 751 TSP type-1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TACCGCATTTCGATTCTCTGT 0.542 DNAH5 1767 broad.mit.edu 37 5 13708305 13708305 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:13708305A>G uc003jfd.2 - 76 13307 c.13265T>C c.(13264-13266)ATC>ACC p.I4422T DNAH5_uc003jfc.2_Missense_Mutation_p.I590T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4422 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GCTCATGATGATGGTGCCATC 0.453 Kartagener_syndrome FBXL7 23194 broad.mit.edu 37 5 15936809 15936809 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:15936809C>T uc003jfn.1 + 4 1471 c.990C>T c.(988-990)AGC>AGT p.S330S NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 330 LRR 6. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 AGGAGCTGAGCGTCAGCGACT 0.677 C5orf23 79614 broad.mit.edu 37 5 32789806 32789806 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:32789806T>G uc003jhw.1 + 1 862 c.299T>G c.(298-300)GTT>GGT p.V100G NM_024563 NP_078839 hypothetical protein LOC79614 0 TTCCTTTTAGTTATGGCTGAT 0.413 AGXT2 64902 broad.mit.edu 37 5 34998853 34998853 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:34998853T>G uc003jjf.2 - 14 1595 c.1516A>C c.(1516-1518)ACC>CCC p.T506P AGXT2_uc003jje.1_Missense_Mutation_p.T159P|AGXT2_uc011com.1_Missense_Mutation_p.T431P NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 506 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ATGTGTTGGGTTAAGGCAGAA 0.378 AGXT2 64902 broad.mit.edu 37 5 35035336 35035336 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:35035336A>T uc003jjf.2 - 5 651 c.572T>A c.(571-573)ATT>AAT p.I191N AGXT2_uc011com.1_Missense_Mutation_p.I191N|AGXT2_uc011con.1_Missense_Mutation_p.I99N NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 191 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) CCTGAAAGAAATGATGTCTAT 0.448 IL7R 3575 broad.mit.edu 37 5 35861002 35861002 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:35861002G>T uc003jjs.2 + 2 220 c.131G>T c.(130-132)AGC>ATC p.S44I IL7R_uc011coo.1_Missense_Mutation_p.S44I|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 44 Extracellular (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TCATGCTATAGCCAGTTGGAA 0.438 NIPBL 25836 broad.mit.edu 37 5 36984938 36984938 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:36984938C>T uc003jkl.3 + 10 2155 c.1656C>T c.(1654-1656)GAC>GAT p.D552D NIPBL_uc003jkk.3_Silent_p.D552D|NIPBL_uc003jkm.1_Silent_p.D431D NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 552 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GAAGAGTGGACTCTCAGGCTT 0.433 VCAN 1462 broad.mit.edu 37 5 82816513 82816513 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:82816513A>T uc003kii.3 + 7 2744 c.2388A>T c.(2386-2388)GAA>GAT p.E796D VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E796D|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 796 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TAAGTGTTGAAGCAGCCACTG 0.403 MCTP1 79772 broad.mit.edu 37 5 94114844 94114844 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:94114844C>T uc003kkx.2 - 19 2581 c.2581G>A c.(2581-2583)GAG>AAG p.E861K MCTP1_uc003kkv.2_Missense_Mutation_p.E640K|MCTP1_uc003kkw.2_Missense_Mutation_p.E554K|MCTP1_uc003kku.2_Missense_Mutation_p.E377K NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 861 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCTTCTTCCTCGTCCTCTAGC 0.423 DMXL1 1657 broad.mit.edu 37 5 118484729 118484729 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:118484729A>G uc003ksd.2 + 18 3388 c.3207A>G c.(3205-3207)AGA>AGG p.R1069R DMXL1_uc010jcl.1_Silent_p.R1069R NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1069 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTAATAGTAGATCTTCCCAGG 0.398 FTMT 94033 broad.mit.edu 37 5 121188128 121188128 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:121188128T>G uc003kss.2 + 1 479 c.470T>G c.(469-471)CTG>CGG p.L157R NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 157 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GAAAGCGGGCTGCATGCCATG 0.572 FBN2 2201 broad.mit.edu 37 5 127607789 127607789 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:127607789T>G uc003kuu.2 - 62 8301 c.7862A>C c.(7861-7863)AAC>ACC p.N2621T NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2621 EGF-like 45; calcium-binding. 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) GCACCTGTGGTTCCCATCACA 0.498 PCDHA6 56142 broad.mit.edu 37 5 140209209 140209209 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:140209209C>T uc003lho.2 + 1 1560 c.1533C>T c.(1531-1533)CAC>CAT p.H511H 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_Silent_p.H511H|PCDHA6_uc011dab.1_Silent_p.H511H NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 511 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCGGTGCACGCGGAGAGCG 0.701 PCDHAC1 56135 broad.mit.edu 37 5 140308755 140308755 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:140308755C>G uc003lih.2 + 1 2454 c.2278C>G c.(2278-2280)CTG>GTG p.L760V 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_uc003lig.1_Missense_Mutation_p.L760V NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 760 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGGCCTCTCTGGGACTTGG 0.463 PCDHGA4 56111 broad.mit.edu 37 5 140734941 140734941 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:140734941G>A uc003ljq.1 + 1 174 c.174G>A c.(172-174)GAG>GAA p.E58E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.E58E NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 58 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCCGGGAGCTGGCGGAGC 0.627 PCDHGB3 56102 broad.mit.edu 37 5 140752271 140752271 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:140752271A>C uc003ljw.1 + 1 2310 c.2310A>C c.(2308-2310)ATA>ATC p.I770I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.I770I|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 770 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTCAATATAAAGGCTGAAA 0.423 LARS 51520 broad.mit.edu 37 5 145529216 145529216 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:145529216T>C uc003lnx.1 - 15 1710 c.1472A>G c.(1471-1473)AAG>AGG p.K491R LARS_uc011dbq.1_Missense_Mutation_p.K445R|LARS_uc011dbr.1_Missense_Mutation_p.K437R|LARS_uc011dbs.1_Missense_Mutation_p.K464R NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 491 Editing domain. leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) AATAGTCTTCTTTACATCTTG 0.373 TCERG1 10915 broad.mit.edu 37 5 145859463 145859463 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:145859463C>G uc003lob.2 + 11 1848 c.1808C>G c.(1807-1809)TCT>TGT p.S603C TCERG1_uc003loc.2_Missense_Mutation_p.S582C|TCERG1_uc011dbt.1_Missense_Mutation_p.S582C NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 603 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGGCAATTCTCTATGAGTGCA 0.363 TTC1 7265 broad.mit.edu 37 5 159478161 159478161 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:159478161G>T uc003lxu.2 + 7 766 c.716G>T c.(715-717)CGT>CTT p.R239L NM_003314 NP_003305 Q99614 TTC1_HUMAN tetratricopeptide repeat domain 1 239 protein folding unfolded protein binding skin(1) 1 Renal(175;0.00196) all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402) ATTGAAGAACGTAATGAAAGA 0.348 MAML1 9794 broad.mit.edu 37 5 179193287 179193287 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:179193287C>A uc003mkm.2 + 2 1539 c.1276C>A c.(1276-1278)CAG>AAG p.Q426K MAML1_uc003mkn.1_Missense_Mutation_p.Q426K NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 426 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCCCCGGGCCAGATGTCCAC 0.632 BTNL9 153579 broad.mit.edu 37 5 180477150 180477150 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr5:180477150C>T uc003mmt.2 + 4 748 c.517C>T c.(517-519)CTC>TTC p.L173F BTNL9_uc011dhi.1_Missense_Mutation_p.L104F NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 173 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGCTGAGGCTCAGATCCAG 0.597 HIST1H2AD 3013 broad.mit.edu 37 6 26199112 26199112 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:26199112C>G uc003ngw.2 - 1 360 c.360G>C c.(358-360)AAG>AAC p.K120N HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank NM_021065 NP_066409 P20671 H2A1D_HUMAN histone cluster 1, H2ad 120 nucleosome assembly nucleosome|nucleus DNA binding 0 all_hematologic(11;0.196) GACTCTCAGTCTTCTTGGGGA 0.493 ABT1 29777 broad.mit.edu 37 6 26598628 26598628 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:26598628G>A uc003nii.2 + 3 605 c.574G>A c.(574-576)GGA>AGA p.G192R NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 192 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity ovary(1) 1 TGTGGAACGGGGACAACGCTT 0.612 CYP21A2 1589 broad.mit.edu 37 6 32007956 32007956 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:32007956G>A uc003nze.1 + 7 1031 c.913G>A c.(913-915)GTG>ATG p.V305M CYP21A2_uc003nzf.1_Missense_Mutation_p.V275M NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 304 V -> M (in hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme). glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding 0 CTCCTGGGCCGTGGTTTTTTT 0.617 NOTCH4 4855 broad.mit.edu 37 6 32168997 32168997 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:32168997G>A uc003obb.2 - 22 4175 c.4036C>T c.(4036-4038)CGG>TGG p.R1346W NOTCH4_uc003oba.2_Missense_Mutation_p.R9W|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1346 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TCTTCAGCCCGGGCCCCAGGA 0.622 DNAH8 1769 broad.mit.edu 37 6 38850763 38850763 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:38850763T>G uc003ooe.1 + 52 7885 c.7285T>G c.(7285-7287)TTG>GTG p.L2429V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCATCAATTTTGGTTCCAAA 0.289 CDC5L 988 broad.mit.edu 37 6 44371709 44371709 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:44371709C>G uc003oxl.2 + 6 962 c.703C>G c.(703-705)CTT>GTT p.L235V NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 235 Potential. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding lung(3)|ovary(1)|kidney(1)|skin(1) 6 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTACCAAGCTCTTGACGCAGA 0.388 DEFB112 245915 broad.mit.edu 37 6 50016282 50016282 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:50016282T>G uc011dws.1 - 1 83 c.83A>C c.(82-84)AAG>ACG p.K28T NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 28 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) ATGTCGGGCCTTTTCAAATAT 0.323 DST 667 broad.mit.edu 37 6 56417119 56417119 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:56417119T>C uc003pdf.2 - 55 10142 c.10114A>G c.(10114-10116)ATT>GTT p.I3372V DST_uc003pcz.3_Missense_Mutation_p.I3194V|DST_uc011dxj.1_Missense_Mutation_p.I3223V|DST_uc011dxk.1_Missense_Mutation_p.I3234V|DST_uc003pcy.3_Missense_Mutation_p.I2868V NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 5280 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGCGCTTAATTGTCCCTTCA 0.438 FAM135A 57579 broad.mit.edu 37 6 71185403 71185403 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:71185403C>T uc003pfj.2 + 5 468 c.335C>T c.(334-336)TCC>TTC p.S112F FAM135A_uc003pfi.2_Missense_Mutation_p.S112F|FAM135A_uc003pfh.2_Missense_Mutation_p.S69F|FAM135A_uc003pfk.2_Missense_Mutation_p.S112F|FAM135A_uc003pfl.2_5'UTR NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 112 central_nervous_system(1) 1 TTTCTATTATCCTTGGATCTA 0.284 AIM1 202 broad.mit.edu 37 6 106987348 106987348 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:106987348T>C uc003prh.2 + 7 4052 c.3565T>C c.(3565-3567)TTG>CTG p.L1189L AIM1_uc003pri.2_5'Flank NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1189 Beta/gamma crystallin 'Greek key' 4. sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) ATACCCTGACTTGTCCTTCTG 0.443 LAMA4 3910 broad.mit.edu 37 6 112441542 112441542 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:112441542G>A uc003pvu.2 - 33 4918 c.4609C>T c.(4609-4611)CAC>TAC p.H1537Y LAMA4_uc003pvv.2_Missense_Mutation_p.H1530Y|LAMA4_uc003pvt.2_Missense_Mutation_p.H1530Y NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1537 Laminin G-like 4. 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) AGTTTTTTGTGACCAACATTA 0.418 RBM16 22828 broad.mit.edu 37 6 155153435 155153435 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:155153435T>G uc003qqa.2 + 21 2954 c.2722T>G c.(2722-2724)TTA>GTA p.L908V TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Missense_Mutation_p.L974V|RBM16_uc011efk.1_Missense_Mutation_p.L953V|RBM16_uc003qpz.2_Missense_Mutation_p.L908V|RBM16_uc010kji.2_Intron NM_014892 NP_055707 Q9UPN6 SCAF8_HUMAN RNA-binding motif protein 16 908 Pro-rich. mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding 0 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524) ACCTCAAAACTTACCCCCTTT 0.463 AGPAT4 56895 broad.mit.edu 37 6 161653179 161653179 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:161653179C>A uc003qtr.1 - 2 294 c.67G>T c.(67-69)GCC>TCC p.A23S AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.A23S|AGPAT4_uc003qtt.1_RNA|AGPAT4_uc011egc.1_Missense_Mutation_p.A23S|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.A23S NM_020133 NP_064518 Q9NRZ5 PLCD_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 4 23 Helical; (Potential). phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding 0 Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285) OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05) AGCCCTGAGGCAATAAAGACG 0.493 SDK1 221935 broad.mit.edu 37 7 3678640 3678640 + Missense_Mutation SNP A A G rs150477138 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:3678640A>G uc003smx.2 + 3 602 c.463A>G c.(463-465)ATT>GTT p.I155V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 155 Ig-like C2-type 1. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAACAGGTACATTATTCCATC 0.413 ITGB8 3696 broad.mit.edu 37 7 20438557 20438557 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:20438557T>C uc003suu.2 + 9 1926 c.1221T>C c.(1219-1221)TGT>TGC p.C407C ITGB8_uc011jyh.1_Silent_p.C272C|ITGB8_uc003sut.2_Silent_p.C407C NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 407 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CCGCCATCTGTCCAGATGGGT 0.403 CCDC129 223075 broad.mit.edu 37 7 31611789 31611789 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:31611789A>C uc003tcj.1 + 6 1375 c.382A>C c.(382-384)AGT>CGT p.S128R CCDC129_uc011kad.1_Missense_Mutation_p.S138R|CCDC129_uc003tci.1_Missense_Mutation_p.S127R|CCDC129_uc011kae.1_Missense_Mutation_p.S154R|CCDC129_uc003tck.1_Missense_Mutation_p.S36R NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 128 0 TTCTACTGCAAGTGTACCACA 0.373 TXNDC3 51314 broad.mit.edu 37 7 37890302 37890302 + Nonsense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:37890302G>T uc003tfn.2 + 5 535 c.163G>T c.(163-165)GAA>TAA p.E55* NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 55 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 ATTGAAAAATGAACTGAACGA 0.318 Kartagener_syndrome TXNDC3 51314 broad.mit.edu 37 7 37890313 37890313 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:37890313A>G uc003tfn.2 + 5 546 c.174A>G c.(172-174)GAA>GAG p.E58E NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 58 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AACTGAACGAAGACGAAATTC 0.318 Kartagener_syndrome TXNDC3 51314 broad.mit.edu 37 7 37936592 37936592 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:37936592G>T uc003tfn.2 + 17 2037 c.1665G>T c.(1663-1665)CAG>CAT p.Q555H NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 555 NDK 3. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TCCGAGCCCAGTTTGGAATAA 0.433 Kartagener_syndrome HECW1 23072 broad.mit.edu 37 7 43477736 43477736 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:43477736C>T uc003tid.1 + 9 1541 c.936C>T c.(934-936)CAC>CAT p.H312H HECW1_uc011kbi.1_Silent_p.H312H|HECW1_uc003tie.1_Silent_p.H344H NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 312 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TGGAGAGACACGCCATAGGGT 0.512 ZNF107 51427 broad.mit.edu 37 7 64167982 64167982 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:64167982C>A uc003ttd.2 + 7 2086 c.1300C>A c.(1300-1302)CAT>AAT p.H434N ZNF107_uc003tte.2_Missense_Mutation_p.H434N NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 434 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) TAAGAAAATTCATACTGGAGA 0.353 AUTS2 26053 broad.mit.edu 37 7 69364285 69364285 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:69364285T>G uc003tvw.3 + 2 1066 c.323T>G c.(322-324)CTT>CGT p.L108R AUTS2_uc003tvv.3_Missense_Mutation_p.L108R|AUTS2_uc003tvx.3_Missense_Mutation_p.L108R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 108 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GATGTAGCACTTAAGCCTCAG 0.443 ABCB4 5244 broad.mit.edu 37 7 87035760 87035760 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:87035760A>G uc003uiv.1 - 26 3427 c.3351T>C c.(3349-3351)GCT>GCC p.A1117A ABCB4_uc003uiw.1_Silent_p.A1110A|ABCB4_uc003uix.1_Silent_p.A1063A NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1117 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCCGAGTTGAGCTCTGAGCC 0.428 ZNF804B 219578 broad.mit.edu 37 7 88964302 88964302 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:88964302A>T uc011khi.1 + 4 2544 c.2006A>T c.(2005-2007)CAT>CTT p.H669L NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 669 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CACAGTGACCATGGGAAAGAC 0.428 HNSCC(36;0.09) STEAP1 26872 broad.mit.edu 37 7 89790313 89790313 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:89790313A>C uc003ujx.2 + 3 479 c.279A>C c.(277-279)GAA>GAC p.E93D STEAP1_uc010lem.2_Missense_Mutation_p.E93D NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 93 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) TTCTGAGGGAAGTAATTCACC 0.388 PLOD3 8985 broad.mit.edu 37 7 100853950 100853950 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:100853950C>T uc003uyd.2 - 13 1819 c.1363G>A c.(1363-1365)GTG>ATG p.V455M PLOD3_uc010lhs.2_Missense_Mutation_p.V20M NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 455 protein modification process 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 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) ACATTCCACACACCCCTGGAG 0.607 PRKAR2B 5577 broad.mit.edu 37 7 106786820 106786820 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:106786820G>T uc003vdx.2 + 6 830 c.655G>T c.(655-657)GGG>TGG p.G219W NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 219 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 TGATAATCGTGGGAGTTTCGG 0.423 SLC35B4 84912 broad.mit.edu 37 7 133994182 133994182 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:133994182T>A uc003vrn.2 - 2 451 c.127A>T c.(127-129)ATT>TTT p.I43F SLC35B4_uc010lmk.2_5'UTR|SLC35B4_uc010lml.1_5'UTR|SLC35B4_uc003vro.3_Missense_Mutation_p.I43F NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 43 Helical; (Potential). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 TCCACAGCAATAAATAAAAAT 0.398 DGKI 9162 broad.mit.edu 37 7 137257570 137257570 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr7:137257570A>G uc003vtt.2 - 18 1777 c.1776T>C c.(1774-1776)GAT>GAC p.D592D DGKI_uc003vtu.2_Silent_p.D292D NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 592 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 TTGGGGTGAGATCTGTTCCAT 0.363 DLC1 10395 broad.mit.edu 37 8 12957933 12957933 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:12957933C>T uc003wwm.2 - 9 2357 c.1913G>A c.(1912-1914)GGC>GAC p.G638D DLC1_uc003wwk.1_Missense_Mutation_p.G201D|DLC1_uc003wwl.1_Missense_Mutation_p.G235D|DLC1_uc011kxx.1_Missense_Mutation_p.G127D NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 638 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 GGGCAGGCTGCCGAAAGAGTC 0.592 DLC1 10395 broad.mit.edu 37 8 12958076 12958076 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:12958076C>A uc003wwm.2 - 9 2214 c.1770G>T c.(1768-1770)GAG>GAT p.E590D DLC1_uc003wwk.1_Missense_Mutation_p.E153D|DLC1_uc003wwl.1_Missense_Mutation_p.E187D|DLC1_uc011kxx.1_Missense_Mutation_p.E79D NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 590 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CGGAAGACACCTCCTGGCGCT 0.692 NRG1 3084 broad.mit.edu 37 8 32621751 32621751 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:32621751A>G uc003xiv.2 + 12 2271 c.1754A>G c.(1753-1755)GAT>GGT p.D585G NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.D590G|NRG1_uc003xiw.2_Missense_Mutation_p.D582G|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.D327G|NRG1_uc010lvs.2_Missense_Mutation_p.D327G|NRG1_uc010lvp.2_Missense_Mutation_p.D539G|NRG1_uc010lvq.2_Missense_Mutation_p.D522G|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.D428G|NRG1_uc003xja.2_Missense_Mutation_p.D396G NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 585 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GTAGGTGAAGATACGCCTTTC 0.542 PRDM14 63978 broad.mit.edu 37 8 70981815 70981815 + Nonsense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:70981815C>T uc003xym.2 - 2 483 c.281G>A c.(280-282)TGG>TAG p.W94* NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) CTTGCTGTACCAGGGCAGATC 0.667 RUNX1T1 862 broad.mit.edu 37 8 93004118 93004118 + Splice_Site SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:93004118C>T uc003yfd.2 - 6 825 c.741_splice c.e6-1 p.R247_splice RUNX1T1_uc003yfc.1_Splice_Site_p.R220_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.R210_splice|RUNX1T1_uc010mao.2_Splice_Site_p.R220_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.R258_splice|RUNX1T1_uc010man.1_Splice_Site|RUNX1T1_uc003yfb.1_Splice_Site_p.R210_splice NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCTTTGGTTCTAAAGGGGGA 0.403 RUNX1T1 862 broad.mit.edu 37 8 93023265 93023265 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:93023265A>C uc003yfd.2 - 4 607 c.523T>G c.(523-525)TTC>GTC p.F175V RUNX1T1_uc003yfc.1_Missense_Mutation_p.F148V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.F138V|RUNX1T1_uc010mao.2_Missense_Mutation_p.F148V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.F186V|RUNX1T1_uc003yfh.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yff.1_Missense_Mutation_p.F138V|RUNX1T1_uc003yfg.1_Missense_Mutation_p.F138V NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 175 TAFH. F->A: Abolishes interaction with corepressor. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CTCAGTGGGAAGTTAGTAGCT 0.348 POP1 10940 broad.mit.edu 37 8 99139913 99139913 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:99139913A>G uc003yij.3 + 3 333 c.233A>G c.(232-234)AAA>AGA p.K78R POP1_uc011lgv.1_Missense_Mutation_p.K78R|POP1_uc003yik.2_Missense_Mutation_p.K78R NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 78 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TCTTCCTCCAAAGGGATGTTT 0.498 YWHAZ 7534 broad.mit.edu 37 8 101932970 101932970 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:101932970G>A uc011lhe.1 - 6 866 c.689C>T c.(688-690)TCG>TTG p.S230L YWHAZ_uc003yjv.2_Missense_Mutation_p.S230L|YWHAZ_uc011lhf.1_Missense_Mutation_p.S230L|YWHAZ_uc003yjw.2_Missense_Mutation_p.S230L|YWHAZ_uc010mbq.2_Missense_Mutation_p.S153L|YWHAZ_uc011lhg.1_Missense_Mutation_p.S110L|YWHAZ_uc010mbr.2_Missense_Mutation_p.S230L|YWHAZ_uc003yjx.2_Missense_Mutation_p.S230L NM_001135702 NP_001129174 P63104 1433Z_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 230 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding 0 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) TTGGGTATCCGATGTCCACAA 0.458 PKHD1L1 93035 broad.mit.edu 37 8 110424511 110424511 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:110424511G>A uc003yne.2 + 20 2207 c.2103G>A c.(2101-2103)GGG>GGA p.G701G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 701 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TTAACAGAGGGCAGAAGACAG 0.413 HNSCC(38;0.096) PKHD1L1 93035 broad.mit.edu 37 8 110527434 110527434 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:110527434A>C uc003yne.2 + 72 11693 c.11589A>C c.(11587-11589)CAA>CAC p.Q3863H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3863 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCACACTTCAACGTTTGGATG 0.318 HNSCC(38;0.096) CSMD3 114788 broad.mit.edu 37 8 113529404 113529404 + Silent SNP G G T rs149308903 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:113529404G>T uc003ynu.2 - 28 4774 c.4615C>A c.(4615-4617)CGA>AGA p.R1539R CSMD3_uc003yns.2_Silent_p.R811R|CSMD3_uc003ynt.2_Silent_p.R1499R|CSMD3_uc011lhx.1_Silent_p.R1435R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1539 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCCCATTTCGAGTCCCATTC 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116617098 116617098 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:116617098A>G uc003ynz.2 - 3 1518 c.1059T>C c.(1057-1059)CAT>CAC p.H353H TRPS1_uc011lhy.1_Silent_p.H357H|TRPS1_uc003yny.2_Silent_p.H366H|TRPS1_uc010mcy.2_Silent_p.H353H NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 353 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TCTGAAGAAAATGTTGTTCTA 0.423 Langer-Giedion_syndrome TMEM65 157378 broad.mit.edu 37 8 125334366 125334366 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:125334366C>A uc010mdl.2 - 5 1037 c.495G>T c.(493-495)GTG>GTT p.V165V NM_194291 NP_919267 Q6PI78 TMM65_HUMAN transmembrane protein 65 165 Helical; (Potential). integral to membrane 0 Lung NSC(37;1.18e-11)|Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTAGATCTGACACAAGATTTC 0.294 ADCY8 114 broad.mit.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:131916177A>C uc003ytd.3 - 7 2008 c.1752T>G c.(1750-1752)ACT>ACG p.T584T ADCY8_uc010mds.2_Silent_p.T584T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 584 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TAATTAAGTAAGTTTCGATAT 0.483 HNSCC(32;0.087) EFR3A 23167 broad.mit.edu 37 8 132962265 132962265 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:132962265G>T uc003yte.2 + 5 617 c.416G>T c.(415-417)CGT>CTT p.R139L NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 139 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TATCACAGACGTTATGACTTT 0.328 PLEC 5339 broad.mit.edu 37 8 144993129 144993129 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:144993129G>C uc003zaf.1 - 32 11441 c.11271C>G c.(11269-11271)ATC>ATG p.I3757M PLEC_uc003zab.1_Missense_Mutation_p.I3620M|PLEC_uc003zac.1_Missense_Mutation_p.I3624M|PLEC_uc003zad.2_Missense_Mutation_p.I3620M|PLEC_uc003zae.1_Missense_Mutation_p.I3588M|PLEC_uc003zag.1_Missense_Mutation_p.I3598M|PLEC_uc003zah.2_Missense_Mutation_p.I3606M|PLEC_uc003zaj.2_Missense_Mutation_p.I3647M NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3757 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGATGATGATGATGATCATGC 0.617 PLEC 5339 broad.mit.edu 37 8 144993332 144993332 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr8:144993332C>G uc003zaf.1 - 32 11238 c.11068G>C c.(11068-11070)GAG>CAG p.E3690Q PLEC_uc003zab.1_Missense_Mutation_p.E3553Q|PLEC_uc003zac.1_Missense_Mutation_p.E3557Q|PLEC_uc003zad.2_Missense_Mutation_p.E3553Q|PLEC_uc003zae.1_Missense_Mutation_p.E3521Q|PLEC_uc003zag.1_Missense_Mutation_p.E3531Q|PLEC_uc003zah.2_Missense_Mutation_p.E3539Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3580Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3690 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TGCGTGGTCTCCACCACCTCA 0.632 KCNV2 169522 broad.mit.edu 37 9 2718317 2718317 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:2718317A>G uc003zho.1 + 1 792 c.578A>G c.(577-579)AAG>AGG p.K193R NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 193 Extracellular (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) GTGCGGCTCAAGTACACGCCA 0.672 MPDZ 8777 broad.mit.edu 37 9 13217225 13217225 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:13217225T>G uc010mia.1 - 8 1212 c.1155A>C c.(1153-1155)CAA>CAC p.Q385H MPDZ_uc010mhy.2_Missense_Mutation_p.Q385H|MPDZ_uc010mhz.2_Missense_Mutation_p.Q385H|MPDZ_uc011lmn.1_Missense_Mutation_p.Q385H|MPDZ_uc003zlb.3_Missense_Mutation_p.Q385H NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 385 PDZ 3. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TTCCTAATCCTTGGACATTTT 0.294 HEMGN 55363 broad.mit.edu 37 9 100692752 100692752 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:100692752C>A uc004axy.2 - 3 1033 c.925G>T c.(925-927)GAC>TAC p.D309Y HEMGN_uc004axz.2_Missense_Mutation_p.D309Y NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 309 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GTAGAAAGGTCTTTAGGCTCA 0.383 OR13C2 392376 broad.mit.edu 37 9 107367876 107367876 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:107367876T>A uc011lvq.1 - 1 33 c.33A>T c.(31-33)GAA>GAT p.E11D NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCAGAAAAAATTCCACCAGAA 0.373 PTGR1 22949 broad.mit.edu 37 9 114325440 114325440 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:114325440C>G uc004bfh.2 - 10 1054 c.951G>C c.(949-951)CTG>CTC p.L317L ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.1_Intron|PTGR1_uc004bfi.3_Silent_p.L317L|PTGR1_uc004bfj.3_3'UTR NM_012212 NP_036344 Q14914 PTGR1_HUMAN prostaglandin reductase 1 isoform 1 317 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding 0 TATCTCCTTTCAGCATTCCCA 0.343 COL27A1 85301 broad.mit.edu 37 9 116930585 116930585 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:116930585C>A uc011lxl.1 + 3 750 c.750C>A c.(748-750)TTC>TTA p.F250L COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.F100L NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 250 cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 GACCTCTCTTCTCCCAAGACT 0.587 HSPA5 3309 broad.mit.edu 37 9 127999057 127999057 + Silent SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:127999057G>C uc004bpn.2 - 8 2035 c.1779C>G c.(1777-1779)ACC>ACG p.T593T NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 593 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) CTTTTTCCATGGTCTCCTTAT 0.383 Prostate(1;0.17) C9orf119 375757 broad.mit.edu 37 9 131038446 131038446 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:131038446G>A uc004bup.2 + 1 22 c.22G>A c.(22-24)GAC>AAC p.D8N GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.D8N NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 8 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 TGGCCAGAGGGACCTGTGGCG 0.642 TTF1 7270 broad.mit.edu 37 9 135278082 135278082 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:135278082C>A uc004cbl.2 - 2 179 c.127G>T c.(127-129)GTG>TTG p.V43L TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 43 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGTTCATTCACCAGGGAGGAG 0.373 EHMT1 79813 broad.mit.edu 37 9 140711934 140711934 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:140711934G>A uc011mfc.1 + 24 3455 c.3418G>A c.(3418-3420)GTG>ATG p.V1140M EHMT1_uc004coe.2_Missense_Mutation_p.V45M NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1140 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGGCTGGGGCGTGCGGTCCCT 0.612 WWC3 55841 broad.mit.edu 37 X 10046905 10046905 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:10046905G>A uc004csx.3 + 4 485 c.287G>A c.(286-288)CGT>CAT p.R96H WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_5'Flank NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 96 Potential. ovary(4) 4 ATAGCAAGTCGTCGGGATAGG 0.413 FANCB 2187 broad.mit.edu 37 X 14862735 14862735 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:14862735G>C uc004cwg.1 - 9 2323 c.2055C>G c.(2053-2055)ATC>ATG p.I685M FANCB_uc004cwh.1_Missense_Mutation_p.I685M NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 685 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GAAATTCTTTGATTATTTCAC 0.378 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia DMD 1756 broad.mit.edu 37 X 32429933 32429933 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:32429933T>A uc004dda.1 - 30 4413 c.4169A>T c.(4168-4170)GAC>GTC p.D1390V DMD_uc004dcw.2_Missense_Mutation_p.D46V|DMD_uc004dcx.2_Missense_Mutation_p.D49V|DMD_uc004dcz.2_Missense_Mutation_p.D1267V|DMD_uc004dcy.1_Missense_Mutation_p.D1386V|DMD_uc004ddb.1_Missense_Mutation_p.D1382V|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1390 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAACTGCTTGTCAATGAATGT 0.473 ZNF630 57232 broad.mit.edu 37 X 47919190 47919190 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:47919190T>G uc004div.3 - 5 893 c.641A>C c.(640-642)AAG>ACG p.K214T ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K90T NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 AGCATTATACTTAGGTGGTCT 0.393 HUWE1 10075 broad.mit.edu 37 X 53655775 53655775 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:53655775C>T uc004dsp.2 - 14 1444 c.1042G>A c.(1042-1044)GAC>AAC p.D348N NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 348 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CCAGTACAGTCAATAATACTG 0.393 TRMT2B 79979 broad.mit.edu 37 X 100278521 100278521 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:100278521G>A uc004egq.2 - 7 993 c.694C>T c.(694-696)CGC>TGC p.R232C TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.R232C|TRMT2B_uc004egs.2_Missense_Mutation_p.R232C|TRMT2B_uc004egt.2_Missense_Mutation_p.R232C|TRMT2B_uc004egu.2_Missense_Mutation_p.R113C|TRMT2B_uc004egv.2_Missense_Mutation_p.R187C NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 232 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 CTATTGGTGCGGACTGTGAGC 0.463 NRK 203447 broad.mit.edu 37 X 105142676 105142676 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:105142676A>G uc004emd.2 + 8 983 c.680A>G c.(679-681)GAT>GGT p.D227G NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 227 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 ATTGACTGTGATGAGGACCCA 0.408 HNSCC(51;0.14) NRK 203447 broad.mit.edu 37 X 105193615 105193615 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:105193615T>A uc004emd.2 + 27 4705 c.4402T>A c.(4402-4404)TTG>ATG p.L1468M NRK_uc011msi.1_Missense_Mutation_p.L49M NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1468 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 ACCTGATTGCTTGGGAATTGG 0.373 HNSCC(51;0.14) RGAG1 57529 broad.mit.edu 37 X 109696362 109696362 + Silent SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:109696362T>G uc004eor.1 + 3 2763 c.2517T>G c.(2515-2517)GCT>GCG p.A839A RGAG1_uc011msr.1_Silent_p.A839A NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 839 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AAGTGAAGGCTCCCATCTCTG 0.537 RGAG1 57529 broad.mit.edu 37 X 109697340 109697340 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:109697340G>A uc004eor.1 + 3 3741 c.3495G>A c.(3493-3495)GAG>GAA p.E1165E RGAG1_uc011msr.1_Silent_p.E1165E NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1165 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCTCTGTGGAGGAAGAGATGG 0.507 PAK3 5063 broad.mit.edu 37 X 110435361 110435361 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:110435361A>C uc004epa.2 + 9 909 c.882A>C c.(880-882)TCA>TCC p.S294S PAK3_uc010npt.1_Silent_p.S279S|PAK3_uc010npu.1_Silent_p.S279S|PAK3_uc004eoy.1_Silent_p.S34S|PAK3_uc004eoz.2_Silent_p.S279S|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.S315S|PAK3_uc010npw.1_Silent_p.S300S NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 294 ATP (By similarity).|Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 ACAGGGCATCAGGTACTGTTT 0.308 TSP Lung(19;0.15) GPR112 139378 broad.mit.edu 37 X 135430266 135430266 + Silent SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:135430266T>G uc004ezu.1 + 6 4692 c.4401T>G c.(4399-4401)TCT>TCG p.S1467S GPR112_uc010nsb.1_Silent_p.S1262S|GPR112_uc010nsc.1_Silent_p.S1234S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1467 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) AGTCCTTGTCTCTTTCCACAG 0.433 SPRY3 10251 broad.mit.edu 37 X 155004392 155004392 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chrX:155004392T>A uc004fnq.1 + 2 1313 c.859T>A c.(859-861)TCT>ACT p.S287T SPRY3_uc010nvl.1_Missense_Mutation_p.S188T NM_005840 NP_005831 O43610 SPY3_HUMAN sprouty homolog 3 287 multicellular organismal development|regulation of signal transduction cytoplasm|membrane 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGGAAAAGTCTGTATGACC 0.542 ZNF284 342909 broad.mit.edu 37 19 44590983 44590984 + Frame_Shift_Del DEL GA GA - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr19:44590983_44590984delGA uc002oyg.1 + 5 1568_1569 c.1352_1353delGA c.(1351-1353)GGAfs p.G451fs ZNF284_uc010ejd.2_RNA NM_001037813 NP_001032902 Q2VY69 ZN284_HUMAN zinc finger protein 284 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) GTCCACACGGGAGAGAGACCTT 0.421 SYCP1 6847 broad.mit.edu 37 1 115420777 115420783 + Frame_Shift_Del DEL GCTAGAG GCTAGAG - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr1:115420776_115420782TGCTAGAG>T uc001efr.3 + 11 1072_1078 c.863_869TGCTAGAG>T c.(862-870)ctgctagagfs p.L288fs SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Del_p.L288fs|SYCP1_uc009wgw.3_Frame_Shift_Del_p.L288fs NM_003176 NP_003167 Q15431 SYCP1_HUMAN Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA. 288 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding p.E290Q(2) RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTAACATTTCTGCTAGAGGAATCCAGA 0.246 RFC1 5981 broad.mit.edu 37 4 39343980 39343984 + Frame_Shift_Del DEL ATGTA ATGTA - rs140182474 TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr4:39343979_39343983TATGTA>T uc003gty.2 - 3 453_457 c.313_317TACATA>A c.(313-318)acatacfs p.T105fs RFC1_uc003gtx.2_Frame_Shift_Del_p.T105fs|RFC1_uc003gtz.2_5'UTR NM_001204747 NP_001191676 P35251 RFC1_HUMAN Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA. 105 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TTCTGAAATGTATGTAACAGGATCC 0.400 NOX3 50508 broad.mit.edu 37 6 155750139 155750140 + Frame_Shift_Ins INS - - G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr6:155750138_155750139T>TG uc003qqm.3 - 8 1037_1038 c.934_935A>CA c.(934-936)aagfs p.K312fs NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN Homo sapiens NADPH oxidase 3 (NOX3), mRNA. 312 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AAAGCCACGCTTTTTCATGTGA 0.515 C9orf86 55684 broad.mit.edu 37 9 139734246 139734256 + Frame_Shift_Del DEL GACTGAAGAAT GACTGAAGAAT - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr9:139734245_139734255AGACTGAAGAAT>A uc004cjj.1 + 12 2318_2328 c.1861_1871AGACTGAAGAAT>A c.(1861-1872)agactgaagaatfs p.R621fs C9orf86_uc004cji.1_Frame_Shift_Del_p.R620fs|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Frame_Shift_Del_p.R505fs|C9orf86_uc004cjn.1_Frame_Shift_Del_p.R414fs NM_001173988 NP_001167459 Q3YEC7 PARF_HUMAN Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA. 620 small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding endometrium(4)|kidney(1)|lung(4) 9 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) CCCCGCCTTCAGACTGAAGAATGACTCGGAC 0.664 NEURL 9148 broad.mit.edu 37 10 105331460 105331461 + Frame_Shift_Ins INS - - T rs145249495 byFrequency TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c g.chr10:105331459_105331460C>CT uc001kxh.3 + 2 939_940 c.529_530C>CT c.(529-531)cgtfs p.R177fs NEURL_uc021pxn.1_Frame_Shift_Ins_p.R160fs NM_004210 NP_004201 O76050 NEU1A_HUMAN Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA. 177 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CAAGAAGGGCCGTGTCTTCCAC 0.634