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 ACAP3 116983 broad.mit.edu 37 1 1229825 1229825 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:1229825G>A uc001aeb.2 - 21 2170 c.2096C>T c.(2095-2097)GCG>GTG p.A699V ACAP3_uc001ady.2_Missense_Mutation_p.A429V|ACAP3_uc001aea.2_Missense_Mutation_p.A624V NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 699 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 CTCATCCTCCGCGTCCGCCCA 0.736 CPSF3L 54973 broad.mit.edu 37 1 1248918 1248918 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:1248918G>A uc001aee.1 - 10 1070 c.1012C>T c.(1012-1014)CGG>TGG p.R338W CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R344W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R316W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R309W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R214W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R237W|CPSF3L_uc001aei.1_Missense_Mutation_p.R240W|CPSF3L_uc001aej.1_Missense_Mutation_p.R165W|CPSF3L_uc001aek.1_Missense_Mutation_p.R80W NM_017871 NP_060341 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 338 Golgi apparatus|nucleus hydrolase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) GCCCATTTCCGGAAGATCTGC 0.602 TAS1R3 83756 broad.mit.edu 37 1 1268468 1268468 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:1268468G>T uc010nyk.1 + 4 1443 c.1443G>T c.(1441-1443)GAG>GAT p.E481D NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 481 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TCAGGACAGAGCGCCTGAAGA 0.667 TMEM52 339456 broad.mit.edu 37 1 1849798 1849798 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:1849798G>A uc001aij.2 - 4 279 c.243C>T c.(241-243)CTC>CTT p.L81L TMEM52_uc001aii.2_Silent_p.L66L NM_178545 NP_848640 Q8NDY8 TMM52_HUMAN transmembrane protein 52 precursor 81 integral to membrane 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCTGCTTCCGGAGGCAGCAGA 0.622 HES3 390992 broad.mit.edu 37 1 6304439 6304439 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:6304439G>A uc009vly.1 + 2 69 c.14G>A c.(13-15)CGC>CAC p.R5H NM_001024598 NP_001019769 Q5TGS1 HES3_HUMAN hairy and enhancer of split 3 5 Basic motif. transcription, DNA-dependent nucleus DNA binding 0 Ovarian(185;0.0634) all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241) GAGAAAAAGCGCCGGGCACGC 0.622 CAMTA1 23261 broad.mit.edu 37 1 7797391 7797391 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:7797391C>A uc001aoi.2 + 15 3626 c.3419C>A c.(3418-3420)CCC>CAC p.P1140H CAMTA1_uc010nzv.1_Missense_Mutation_p.P227H|CAMTA1_uc001aok.3_Missense_Mutation_p.P183H|CAMTA1_uc001aoj.2_Missense_Mutation_p.P96H NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 1140 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ATCTCGATTCCCGACTCTCTA 0.572 UTS2 10911 broad.mit.edu 37 1 7910965 7910965 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:7910965G>A uc001aor.2 - 2 162 c.121C>T c.(121-123)CGC>TGC p.R41C UTS2_uc001aoq.2_Missense_Mutation_p.R41C|UTS2_uc001aos.2_Missense_Mutation_p.R56C NM_006786 NP_006777 O95399 UTS2_HUMAN urotensin 2 isoform b preproprotein 41 muscle contraction|regulation of blood pressure|synaptic transmission extracellular space hormone activity 0 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;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;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642) GGAGTTAAGCGCGCGTCTTCA 0.458 H6PD 9563 broad.mit.edu 37 1 9305527 9305527 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:9305527T>C uc001apt.2 + 2 807 c.534T>C c.(532-534)CAT>CAC p.H178H NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 178 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CCTTTGGCCATGACCACTTCT 0.592 CORT 1325 broad.mit.edu 37 1 10510133 10510133 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:10510133G>A uc001ari.2 + 1 163 c.3G>A c.(1-3)ATG>ATA p.M1I APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron NM_001302 NP_001293 O00230 CORT_HUMAN cortistatin preproprotein Error:Variant_position_missing_in_O00230_after_alignment inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission extracellular region|soluble fraction G-protein-coupled receptor binding|neuropeptide hormone activity 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487) CGTTAGACATGTATAGACACA 0.512 VPS13D 55187 broad.mit.edu 37 1 12337668 12337668 + Silent SNP G G A rs137909177 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:12337668G>A uc001atv.2 + 19 4164 c.4023G>A c.(4021-4023)TCG>TCA p.S1341S VPS13D_uc001atw.2_Silent_p.S1341S|VPS13D_uc001atx.2_Silent_p.S529S NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 1341 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) AGATGGTATCGCTCTTTGAAA 0.438 SPEN 23013 broad.mit.edu 37 1 16262530 16262530 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:16262530T>C uc001axk.1 + 11 9999 c.9795T>C c.(9793-9795)GGT>GGC p.G3265G SPEN_uc010obp.1_Silent_p.G3224G NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3265 Pro-rich. 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) ccccTCATGGTGAGGCCCGTA 0.393 PADI3 51702 broad.mit.edu 37 1 17597615 17597615 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:17597615C>T uc001bai.2 + 9 1029 c.989C>T c.(988-990)GCC>GTC p.A330V NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 330 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCCAGGAAGGCCGGCTGCAAG 0.642 ARHGEF10L 55160 broad.mit.edu 37 1 17975156 17975156 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:17975156G>T uc001ban.2 + 22 2539 c.2380G>T c.(2380-2382)GCA>TCA p.A794S ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A755S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A755S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A750S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A555S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A567S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A497S|ARHGEF10L_uc009vpf.2_RNA NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 794 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(1)|ovary(1)|pancreas(1) 3 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CTCCTCCCGGGCACTCAGCCT 0.647 AKR7A2 8574 broad.mit.edu 37 1 19632540 19632540 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:19632540C>T uc001bbw.2 - 6 912 c.890G>A c.(889-891)CGG>CAG p.R297Q AKR7A2_uc001bbx.2_Missense_Mutation_p.R262Q NM_003689 NP_003680 O43488 ARK72_HUMAN aldo-keto reductase family 7, member A2 297 carbohydrate metabolic process|cellular aldehyde metabolic process Golgi apparatus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTACATCCACCGGAGGGCAGC 0.627 ECE1 1889 broad.mit.edu 37 1 21562343 21562343 + Silent SNP G G A rs28368018 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:21562343G>A uc001bek.2 - 13 1641 c.1566C>T c.(1564-1566)GAC>GAT p.D522D ECE1_uc001bem.2_Silent_p.D506D|ECE1_uc001bej.2_Silent_p.D510D|ECE1_uc001bei.2_Silent_p.D519D|ECE1_uc010odl.1_Silent_p.D522D|ECE1_uc009vqa.1_Silent_p.D522D NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 522 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) AGCTACTCACGTCATTAAACA 0.552 RAP1GAP 5909 broad.mit.edu 37 1 21926004 21926004 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:21926004C>T uc001bex.2 - 21 2017 c.1759G>A c.(1759-1761)GGA>AGA p.G587R RAP1GAP_uc001bev.2_Missense_Mutation_p.G672R|RAP1GAP_uc001bew.2_Missense_Mutation_p.G651R|RAP1GAP_uc001bey.2_Missense_Mutation_p.G613R NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 587 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GTGTCCTCTCCGTCCACACCC 0.657 HSPG2 3339 broad.mit.edu 37 1 22173013 22173013 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:22173013G>A uc001bfj.2 - 63 8284 c.8244C>T c.(8242-8244)TGC>TGT p.C2748C HSPG2_uc009vqd.2_Silent_p.C2749C NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2748 Ig-like C2-type 13. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGGGGACCACGCAGTTCAGAT 0.627 FAM54B 56181 broad.mit.edu 37 1 26152890 26152890 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:26152890A>G uc001bkq.3 + 4 437 c.227A>G c.(226-228)TAT>TGT p.Y76C FAM54B_uc001bkr.3_Missense_Mutation_p.Y76C|FAM54B_uc010oet.1_Missense_Mutation_p.Y109C|FAM54B_uc009vrz.2_Missense_Mutation_p.Y73C|LOC646471_uc010oeu.1_5'Flank|FAM54B_uc001bks.3_Missense_Mutation_p.Y76C|FAM54B_uc001bkt.3_Missense_Mutation_p.Y76C|FAM54B_uc001bku.3_Missense_Mutation_p.Y73C|FAM54B_uc001bkv.3_Translation_Start_Site NM_001099625 NP_001093095 Q9H019 FA54B_HUMAN hypothetical protein LOC56181 isoform a 76 pancreas(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649) GAGGAGACATATGCCCGGGTC 0.552 PAQR7 164091 broad.mit.edu 37 1 26189692 26189692 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:26189692G>T uc001bkx.2 - 2 1306 c.639C>A c.(637-639)GCC>GCA p.A213A NM_178422 NP_848509 Q86WK9 MPRA_HUMAN progestin and adipoQ receptor family member VII 213 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding breast(3) 3 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649) CCAGTGCGTAGGCCAGGACGG 0.577 PIGV 55650 broad.mit.edu 37 1 27117357 27117357 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:27117357C>T uc001bmz.2 + 2 382 c.51C>T c.(49-51)AGC>AGT p.S17S PIGV_uc001bmy.2_5'UTR|PIGV_uc009vso.2_Silent_p.S17S|PIGV_uc010ofg.1_5'UTR|PIGV_uc001bna.2_Silent_p.S17S NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 17 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) TTGCAGTCAGCTGCCGTATCC 0.542 NR0B2 8431 broad.mit.edu 37 1 27240396 27240396 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:27240396C>T uc001bnf.2 - 1 172 c.36G>A c.(34-36)CAG>CAA p.Q12Q NM_021969 NP_068804 Q15466 NR0B2_HUMAN short heterodimer partner 12 cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TTGCAGCTCCCTGGCATGGGC 0.622 C1orf172 126695 broad.mit.edu 37 1 27277975 27277975 + Silent SNP G G A rs142079202 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:27277975G>A uc001bni.1 - 2 986 c.897C>T c.(895-897)CGC>CGT p.R299R NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 299 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GAATGATGCCGCGTACCAGGC 0.602 MECR 51102 broad.mit.edu 37 1 29522757 29522757 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:29522757T>C uc001brq.1 - 8 880 c.844A>G c.(844-846)ATG>GTG p.M282V MECR_uc001brp.1_Missense_Mutation_p.M206V|MECR_uc001brr.1_Missense_Mutation_p.M206V|MECR_uc001brs.1_RNA NM_016011 NP_057095 Q9BV79 MECR_HUMAN trans-2-enoyl-CoA reductase, mitochondrial 282 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding ovary(1) 1 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) TAGGTTACCATGGTTCCTCCA 0.592 CSMD2 114784 broad.mit.edu 37 1 34011768 34011768 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:34011768C>T uc001bxn.1 - 56 8566 c.8537G>A c.(8536-8538)CGT>CAT p.R2846H CSMD2_uc001bxm.1_Missense_Mutation_p.R2990H NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2846 Extracellular (Potential).|Sushi 20. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCCCCCAAACGGATGCCATG 0.567 EIF2C1 26523 broad.mit.edu 37 1 36359342 36359342 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:36359342C>T uc001bzl.2 + 5 793 c.580C>T c.(580-582)CGC>TGC p.R194C EIF2C1_uc001bzk.2_Missense_Mutation_p.R119C|EIF2C1_uc009vuy.2_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 194 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGGGGGTGGGCGCGAGGTCTG 0.632 NDUFS5 4725 broad.mit.edu 37 1 39500070 39500070 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:39500070C>T uc001ccx.2 + 3 294 c.223C>T c.(223-225)CGT>TGT p.R75C NDUFS5_uc001ccy.2_Missense_Mutation_p.R75C NM_004552 NP_004543 O43920 NDUS5_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 5, 75 mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.93e-18) NADH(DB00157) ACAGATGAGACGTGCAGGTAC 0.453 MACF1 23499 broad.mit.edu 37 1 39753194 39753194 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:39753194G>A uc010ois.1 + 16 1965 c.1760G>A c.(1759-1761)CGA>CAA p.R587Q MACF1_uc001cda.1_Missense_Mutation_p.R495Q NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 587 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCAATCTCCGATTTGTGTAT 0.468 SMAP2 64744 broad.mit.edu 37 1 40881993 40881993 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:40881993C>T uc001cfj.2 + 8 892 c.827C>T c.(826-828)ACG>ATG p.T276M SMAP2_uc010ojh.1_Missense_Mutation_p.T276M|SMAP2_uc001cfk.2_Missense_Mutation_p.T246M|SMAP2_uc010oji.1_Missense_Mutation_p.T193M|SMAP2_uc010ojj.1_Missense_Mutation_p.T92M NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 276 regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) GGATCCCAGACGCCTCAAATG 0.458 TIE1 7075 broad.mit.edu 37 1 43773592 43773592 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:43773592T>C uc001ciu.2 + 7 1118 c.1039T>C c.(1039-1041)TCA>CCA p.S347P TIE1_uc010okd.1_Missense_Mutation_p.S347P|TIE1_uc010oke.1_Missense_Mutation_p.S302P|TIE1_uc009vwq.2_Missense_Mutation_p.S303P|TIE1_uc010okf.1_Intron|TIE1_uc010okg.1_Intron|TIE1_uc010okc.1_Intron NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 347 Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTGTGAGAAGTCAGGTATAAG 0.547 KDM4A 9682 broad.mit.edu 37 1 44118953 44118953 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:44118953C>T uc001cjx.2 + 2 273 c.107C>T c.(106-108)TCC>TTC p.S36F KDM4A_uc010oki.1_Missense_Mutation_p.S36F NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 36 JmjN. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TACATTGAATCCCAAGGAGCT 0.433 TOE1 114034 broad.mit.edu 37 1 45808537 45808537 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:45808537C>T uc009vxq.2 + 7 1358 c.775C>T c.(775-777)CGG>TGG p.R259W MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R179W|TOE1_uc010oln.1_3'UTR|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 259 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGGAAGCAGCGGGCAGCTGG 0.423 RAD54L 8438 broad.mit.edu 37 1 46739833 46739833 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:46739833G>A uc009vye.2 + 16 1748 c.1634G>A c.(1633-1635)GGC>GAC p.G545D RAD54L_uc001cpl.2_Missense_Mutation_p.G545D|RAD54L_uc001cpm.1_Missense_Mutation_p.G328D NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 545 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CGCCTGGATGGCACGATGTCC 0.423 Direct_reversal_of_damage|Homologous_recombination RAD54L 8438 broad.mit.edu 37 1 46740228 46740228 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:46740228A>G uc009vye.2 + 17 1822 c.1708A>G c.(1708-1710)ATG>GTG p.M570V RAD54L_uc001cpl.2_Missense_Mutation_p.M570V|RAD54L_uc001cpm.1_Missense_Mutation_p.M353V NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 570 Helicase C-terminal. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CTTTGTCTTCATGCTGAGCAG 0.527 Direct_reversal_of_damage|Homologous_recombination NRD1 4898 broad.mit.edu 37 1 52254957 52254957 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:52254957G>A uc001ctc.3 - 33 3933 c.3611C>T c.(3610-3612)GCT>GTT p.A1204V NRD1_uc009vzb.2_Missense_Mutation_p.A899V|NRD1_uc001ctd.3_Missense_Mutation_p.A1136V NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a 1135 DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1). cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 TGTTGTGAAAGCCCTGATATC 0.413 KTI12 112970 broad.mit.edu 37 1 52498938 52498938 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:52498938C>T uc001ctj.1 - 1 535 c.496G>A c.(496-498)GCC>ACC p.A166T TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 166 ATP binding central_nervous_system(2) 2 TCGGCCTGGGCACTTCCATTT 0.612 LRP8 7804 broad.mit.edu 37 1 53715091 53715091 + Silent SNP C C T rs145707126 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:53715091C>T uc001cvi.1 - 18 2956 c.2814G>A c.(2812-2814)CCG>CCA p.P938P LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Silent_p.P768P|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 938 Cytoplasmic (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 GAGGGTTCTTCGGGAGTTGGT 0.363 LRRC42 115353 broad.mit.edu 37 1 54428072 54428072 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:54428072G>T uc001cwj.1 + 6 1117 c.917G>T c.(916-918)TGG>TTG p.W306L LRRC42_uc001cwl.1_Missense_Mutation_p.W306L|LRRC42_uc001cwk.1_Missense_Mutation_p.W306L|LRRC42_uc009vzm.1_Missense_Mutation_p.W306L NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 306 0 ACAGAGGGCTGGGCTGACCAG 0.433 DEPDC1 55635 broad.mit.edu 37 1 68947796 68947796 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:68947796G>A uc001dem.3 - 8 1812 c.1695C>T c.(1693-1695)TGC>TGT p.C565C DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN DEP domain containing 1 isoform a 565 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) TTGTACTTTTGCAGAGTCTTT 0.383 C1orf173 127254 broad.mit.edu 37 1 75055401 75055401 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:75055401T>G uc001dgg.2 - 12 2309 c.2090A>C c.(2089-2091)AAG>ACG p.K697T uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.K491T NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 697 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 ATCCTTTTCCTTTTCTTCTGC 0.458 PIGK 10026 broad.mit.edu 37 1 77635038 77635038 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:77635038A>G uc001dhk.2 - 4 327 c.282T>C c.(280-282)CCT>CCC p.P94P PIGK_uc010orj.1_Intron|PIGK_uc009wbx.2_Intron|PIGK_uc001dhl.1_Silent_p.P94P NM_005482 NP_005473 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, 94 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding ovary(2)|pancreas(1) 3 TGGGATTTCTAGGATTACAGG 0.333 C1orf52 148423 broad.mit.edu 37 1 85725277 85725277 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:85725277C>T uc001dkv.2 - 1 79 c.40G>A c.(40-42)GCA>ACA p.A14T C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Missense_Mutation_p.A14T NM_198077 NP_932343 Q8N6N3 CA052_HUMAN hypothetical protein LOC148423 14 ovary(1) 1 all cancers(265;0.0105)|Epithelial(280;0.0293) CTCCCGTATGCCGCAAAATAG 0.652 OREG0013580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GTF2B 2959 broad.mit.edu 37 1 89325946 89325946 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:89325946G>A uc001dmo.3 - 4 401 c.282C>T c.(280-282)GAC>GAT p.D94D GTF2B_uc009wcw.1_RNA NM_001514 NP_001505 Q00403 TF2B_HUMAN general transcription factor IIB 94 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) TGCCAAATTCGTCAAAACTTG 0.353 CCBL2 56267 broad.mit.edu 37 1 89408751 89408751 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:89408751T>C uc001dmp.2 - 13 1616 c.1239A>G c.(1237-1239)TCA>TCG p.S413S CCBL2_uc001dmq.2_Silent_p.S379S|CCBL2_uc001dmr.2_Silent_p.S249S NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 413 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TACAGAATGCTGAAACGGGGA 0.308 TGFBR3 7049 broad.mit.edu 37 1 92161320 92161320 + Silent SNP C C A rs142345668 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:92161320C>A uc001doh.2 - 16 2812 c.2346G>T c.(2344-2346)CTG>CTT p.L782L TGFBR3_uc009wde.2_Silent_p.L477L|TGFBR3_uc010osy.1_Silent_p.L740L|TGFBR3_uc001doi.2_Silent_p.L781L|TGFBR3_uc001doj.2_Silent_p.L781L NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 782 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TTAGGGTGTCCAGACCATGGA 0.448 MTF2 22823 broad.mit.edu 37 1 93583921 93583921 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:93583921C>T uc009wdj.2 + 7 944 c.652C>T c.(652-654)CAG>TAG p.Q218* MTF2_uc001dph.2_Nonsense_Mutation_p.Q116*|MTF2_uc010oth.1_Nonsense_Mutation_p.Q116*|MTF2_uc009wdk.2_Nonsense_Mutation_p.Q218*|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Nonsense_Mutation_p.Q116*|MTF2_uc001dpj.3_Nonsense_Mutation_p.Q116*|MTF2_uc001dpl.3_Nonsense_Mutation_p.Q116* NM_007358 NP_031384 Q9Y483 MTF2_HUMAN metal response element binding transcription 218 PHD-type 2. nucleus DNA binding|zinc ion binding ovary(2) 2 all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886) GAAGATGCTACAGTGCTGCAA 0.338 CCDC18 343099 broad.mit.edu 37 1 93659237 93659237 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:93659237G>A uc001dpq.2 + 6 1156 c.988G>A c.(988-990)GAG>AAG p.E330K NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 212 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) GAGTTTGCAGGAGTCCAAAGA 0.323 ABCA4 24 broad.mit.edu 37 1 94466610 94466610 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:94466610C>T uc001dqh.2 - 46 6438 c.6334G>A c.(6334-6336)GTC>ATC p.V2112I NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 2112 ABC transporter 2.|Cytoplasmic. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CTCACGATGACGTTCCACAGC 0.637 SLC35A3 23443 broad.mit.edu 37 1 100480964 100480964 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:100480964A>G uc001dsp.1 + 6 938 c.741A>G c.(739-741)GTA>GTG p.V247V SLC35A3_uc001dsq.1_Silent_p.V247V|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Silent_p.V289V|SLC35A3_uc001dss.1_Silent_p.V166V NM_012243 NP_036375 Q9Y2D2 S35A3_HUMAN solute carrier family 35 member 3A 247 Helical; (Potential). UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity 0 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) CCTGGATAGTAGTTGTTCTTC 0.318 SARS 6301 broad.mit.edu 37 1 109756660 109756660 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:109756660C>A uc001dwu.1 + 1 121 c.46C>A c.(46-48)CCA>ACA p.P16T SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR NM_006513 NP_006504 P49591 SYSC_HUMAN seryl-tRNA synthetase 16 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) AGGAGGGGACCCAGCCCTCAT 0.597 AMPD2 271 broad.mit.edu 37 1 110173646 110173646 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:110173646A>G uc009wfh.1 + 19 3054 c.2512A>G c.(2512-2514)ATC>GTC p.I838V AMPD2_uc001dyb.1_Missense_Mutation_p.I757V|AMPD2_uc001dyc.1_Missense_Mutation_p.I838V|AMPD2_uc010ovr.1_Missense_Mutation_p.I763V|AMPD2_uc001dyd.1_Missense_Mutation_p.I719V|AMPD2_uc001dye.1_Missense_Mutation_p.I107V NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 838 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) TGTGCCAGACATCCGCGTGGG 0.617 CSF1 1435 broad.mit.edu 37 1 110459942 110459942 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:110459942G>A uc001dyu.2 + 4 666 c.253G>A c.(253-255)GCA>ACA p.A85T CSF1_uc001dyt.2_Missense_Mutation_p.A85T|CSF1_uc001dyv.3_Missense_Mutation_p.A85T|CSF1_uc001dyw.3_Missense_Mutation_p.A85T NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 85 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCTTAAGAAGGCATTTCTCCT 0.522 AHCYL1 10768 broad.mit.edu 37 1 110561200 110561200 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:110561200G>A uc001dyx.2 + 13 1612 c.1245G>A c.(1243-1245)ACG>ACA p.T415T AHCYL1_uc010ovw.1_Silent_p.T368T|AHCYL1_uc001dyy.2_Silent_p.T368T|AHCYL1_uc010ovx.1_Silent_p.T368T NM_006621 NP_006612 O43865 SAHH2_HUMAN S-adenosylhomocysteine hydrolase-like 1 415 NAD binding (By similarity). one-carbon metabolic process endoplasmic reticulum adenosylhomocysteinase activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143) CGGAGCTGACGTGGGAGCGAG 0.512 KCNA10 3744 broad.mit.edu 37 1 111060821 111060821 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:111060821C>A uc001dzt.1 - 1 977 c.589G>T c.(589-591)GAC>TAC p.D197Y NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 197 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CGGTGGATGTCATTGGTGGGT 0.537 KCND3 3752 broad.mit.edu 37 1 112525054 112525054 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:112525054G>A uc001ebu.1 - 2 775 c.295C>T c.(295-297)CGC>TGC p.R99C KCND3_uc001ebv.1_Missense_Mutation_p.R99C NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 99 Cytoplasmic (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TTCCCCGTGCGGTAGAAGTTG 0.612 PTGFRN 5738 broad.mit.edu 37 1 117487714 117487714 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:117487714G>T uc001egv.1 + 3 969 c.832G>T c.(832-834)GTT>TTT p.V278F NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 278 Ig-like C2-type 3.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CCAGCCATCAGGTGAGCTGGA 0.522 MAN1A2 10905 broad.mit.edu 37 1 117910865 117910865 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:117910865G>A uc001ehd.1 + 1 781 c.60G>A c.(58-60)GGG>GGA p.G20G MAN1A2_uc009whg.1_5'UTR NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 20 Cytoplasmic (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TGAACCTGGGGCCGCCTTCCT 0.493 HMGCS2 3158 broad.mit.edu 37 1 120301892 120301892 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:120301892G>A uc001eid.2 - 4 750 c.699C>T c.(697-699)ACC>ACT p.T233T HMGCS2_uc010oxj.1_Silent_p.T191T|HMGCS2_uc001eie.2_Silent_p.T141T NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 233 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TCTCCATATGGGTTCCCCTCA 0.473 NOTCH2 4853 broad.mit.edu 37 1 120458270 120458270 + Missense_Mutation SNP G G A rs75831573 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:120458270G>A uc001eik.2 - 34 7331 c.7075C>T c.(7075-7077)CCC>TCC p.P2359S NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 2359 Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTGCTGGGGCATCATGGCA 0.607 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NOTCH2 4853 broad.mit.edu 37 1 120461946 120461946 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:120461946C>A uc001eik.2 - 31 6026 c.5770G>T c.(5770-5772)GGT>TGT p.G1924C NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1924 ANK 3.|Cytoplasmic (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAAGACACCTTGGGCATCA 0.383 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome ECM1 1893 broad.mit.edu 37 1 150483519 150483519 + Missense_Mutation SNP C C T rs150625690 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:150483519C>T uc001eus.2 + 6 752 c.553C>T c.(553-555)CGT>TGT p.R185C ECM1_uc010pce.1_Missense_Mutation_p.R114C|ECM1_uc010pcf.1_Missense_Mutation_p.R107C|ECM1_uc001eut.2_Missense_Mutation_p.R185C|ECM1_uc001euu.2_Missense_Mutation_p.R214C|ECM1_uc001euv.2_Missense_Mutation_p.R212C|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 185 2 X approximate repeats.|1. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CCTTCCTAACCGTCAGCATGT 0.587 SETDB1 9869 broad.mit.edu 37 1 150936529 150936529 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:150936529G>A uc001evu.2 + 21 3918 c.3728G>A c.(3727-3729)CGC>CAC p.R1243H SETDB1_uc001evv.2_Missense_Mutation_p.R1243H NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 1243 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CATGATCTTCGCTTCCCCTGG 0.527 PIP5K1A 8394 broad.mit.edu 37 1 151210663 151210663 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:151210663G>A uc001exj.2 + 10 1603 c.1151G>A c.(1150-1152)GGT>GAT p.G384D PIP5K1A_uc001exi.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcu.1_Intron|PIP5K1A_uc001exk.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcv.1_Missense_Mutation_p.G141D NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 384 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCAGTATGGGTGGCATCCCT 0.453 TUFT1 7286 broad.mit.edu 37 1 151546755 151546755 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:151546755A>G uc001eyl.2 + 8 666 c.604A>G c.(604-606)AGC>GGC p.S202G TUFT1_uc001eym.2_Missense_Mutation_p.S177G|TUFT1_uc010pdf.1_Missense_Mutation_p.S221G|TUFT1_uc010pdg.1_Missense_Mutation_p.S150G NM_020127 NP_064512 Q9NNX1 TUFT1_HUMAN tuftelin 1 isoform 1 202 Potential. bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel 0 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GGTCACACTCAGCCGGTACCA 0.498 OREG0003906 type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay HRNR 388697 broad.mit.edu 37 1 152187511 152187511 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:152187511G>A uc001ezt.1 - 3 6670 c.6594C>T c.(6592-6594)CAC>CAT p.H2198H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2198 24. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTTGGCCGTGGCTGGAGG 0.632 KPRP 448834 broad.mit.edu 37 1 152733782 152733782 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:152733782A>G uc001fal.1 + 2 1776 c.1718A>G c.(1717-1719)GAA>GGA p.E573G NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 573 cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTGAAAGGGGAAGCAAAGAGT 0.502 NUP210L 91181 broad.mit.edu 37 1 154127427 154127427 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:154127427G>A uc001fdw.2 - 1 166 c.94C>T c.(94-96)CGT>TGT p.R32C NUP210L_uc010peh.1_Missense_Mutation_p.R32C NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 32 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGGGTCCCACGCAAAACCAGA 0.607 AQP10 89872 broad.mit.edu 37 1 154295464 154295464 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:154295464A>G uc001feu.2 + 3 279 c.239A>G c.(238-240)CAC>CGC p.H80R AQP10_uc001fev.2_Missense_Mutation_p.H80R|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 80 Cytoplasmic (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GAAGGGGCCCACCTGAATCCA 0.353 PBXIP1 57326 broad.mit.edu 37 1 154918618 154918618 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:154918618C>T uc001ffr.2 - 10 1591 c.1532G>A c.(1531-1533)AGG>AAG p.R511K PBXIP1_uc001ffs.2_Missense_Mutation_p.R482K|PBXIP1_uc010pep.1_Missense_Mutation_p.R356K NM_020524 NP_065385 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 511 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity large_intestine(1) 1 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGCTGGCTCCCTGTCCTCCTG 0.602 DCST2 127579 broad.mit.edu 37 1 155005160 155005160 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:155005160T>C uc001fgm.2 - 3 604 c.524A>G c.(523-525)GAT>GGT p.D175G DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 175 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTTCACACCATCCATGATTGA 0.428 GBA 2629 broad.mit.edu 37 1 155208382 155208382 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:155208382A>G uc001fjh.2 - 5 664 c.514T>C c.(514-516)TAC>CAC p.Y172H RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.Y59H|GBA_uc010pfx.1_Missense_Mutation_p.Y123H|GBA_uc001fji.2_Missense_Mutation_p.Y172H|GBA_uc001fjj.2_Missense_Mutation_p.Y172H|GBA_uc001fjk.2_Missense_Mutation_p.Y172H|GBA_uc001fjl.2_Missense_Mutation_p.Y172H|GBA_uc010pfy.1_Missense_Mutation_p.Y85H|GBA_uc009wqk.1_Missense_Mutation_p.Y85H NM_000157 NP_000148 P04062 GLCM_HUMAN glucocerebrosidase precursor 172 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding ovary(1)|skin(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) GCATAGGTGTAGGTGCGGATG 0.488 Gaucher_disease_type_I PKLR 5313 broad.mit.edu 37 1 155263028 155263028 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:155263028G>A uc001fkb.3 - 9 1415 c.1376C>T c.(1375-1377)GCT>GTT p.A459V RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.A428V NM_000298 NP_000289 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC isoform 1 459 A -> V (in PKRD). endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity skin(4)|ovary(1) 5 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) AGCCTCCACAGCACCAATGGC 0.607 GON4L 54856 broad.mit.edu 37 1 155736194 155736194 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:155736194G>A uc001flz.2 - 21 3167 c.3070C>T c.(3070-3072)CGA>TGA p.R1024* GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.R1024*|GON4L_uc009wrh.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fma.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fmb.3_Nonsense_Mutation_p.R220*|GON4L_uc001fmc.2_Nonsense_Mutation_p.R1024*|GON4L_uc001fmd.3_Nonsense_Mutation_p.R1024*|GON4L_uc009wri.2_Nonsense_Mutation_p.R610* NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1024 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGAGTTGATCGGGCTGGTGTT 0.557 MEX3A 92312 broad.mit.edu 37 1 156046402 156046402 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:156046402T>C uc001fnd.3 - 2 1526 c.1526A>G c.(1525-1527)CAC>CGC p.H509R NM_001093725 NP_001087194 A1L020 MEX3A_HUMAN MEX3A protein 509 RING-type. cytoplasmic mRNA processing body|nucleus RNA binding|zinc ion binding 0 Hepatocellular(266;0.158)|all_neural(408;0.195) GGCTGTGATGTGGCAGACGGG 0.617 SMG5 23381 broad.mit.edu 37 1 156233269 156233269 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:156233269T>C uc001foc.3 - 13 2097 c.1948A>G c.(1948-1950)ATG>GTG p.M650V SMG5_uc009wrv.2_Missense_Mutation_p.M135V NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 650 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) CCTTCGGCCATCAGGACCTGA 0.612 HAPLN2 60484 broad.mit.edu 37 1 156593317 156593317 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:156593317G>A uc001fpn.1 + 3 442 c.35G>A c.(34-36)CGC>CAC p.R12H HAPLN2_uc010phq.1_Missense_Mutation_p.R12H NM_021817 NP_068589 Q9GZV7 HPLN2_HUMAN brain link protein-1 precursor 12 cell adhesion proteinaceous extracellular matrix hyaluronic acid binding 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACACTCTGCCGCTTCCTTCTT 0.622 BCAN 63827 broad.mit.edu 37 1 156616930 156616930 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:156616930C>T uc001fpp.2 + 3 765 c.429C>T c.(427-429)ATC>ATT p.I143I BCAN_uc001fpo.2_Silent_p.I143I NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 143 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCACGGCATCGATGACAGCA 0.532 FCRL5 83416 broad.mit.edu 37 1 157490846 157490846 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:157490846C>T uc001fqu.2 - 11 2634 c.2476G>A c.(2476-2478)GGG>AGG p.G826R FCRL5_uc009wsm.2_Missense_Mutation_p.G826R NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 826 Extracellular (Potential).|Ig-like C2-type 8. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CGCTGGGCCCCGAGGCCATTG 0.567 IGSF9 57549 broad.mit.edu 37 1 159900506 159900506 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:159900506C>T uc001fur.2 - 14 1987 c.1789G>A c.(1789-1791)GAA>AAA p.E597K IGSF9_uc001fuq.2_Missense_Mutation_p.E581K|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 597 Fibronectin type-III 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AAGACGATTTCGCTGAAGGGA 0.602 ATP1A2 477 broad.mit.edu 37 1 160106432 160106432 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:160106432G>A uc001fvc.2 + 19 2768 c.2636G>A c.(2635-2637)CGG>CAG p.R879Q ATP1A2_uc001fvb.2_Missense_Mutation_p.R879Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R598Q NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 879 Extracellular (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CTGCCATCACGGCTACTGGGA 0.577 NHLH1 4807 broad.mit.edu 37 1 160340584 160340584 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:160340584G>A uc001fwa.2 + 2 505 c.63G>A c.(61-63)TCG>TCA p.S21S NM_005598 NP_005589 Q02575 HEN1_HUMAN nescient helix loop helix 1 21 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGACTGAGTCGGGCTTCAGTG 0.697 B4GALT3 8703 broad.mit.edu 37 1 161144895 161144895 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:161144895G>A uc001fyq.1 - 4 639 c.377C>T c.(376-378)GCC>GTC p.A126V PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_5'Flank|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.A126V|B4GALT3_uc001fys.1_Missense_Mutation_p.A126V|B4GALT3_uc009wud.1_Missense_Mutation_p.A126V NM_003779 NP_003770 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 126 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|metal ion binding|N-acetyllactosamine synthase activity 0 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CACAATGATGGCTGTTCGGGA 0.632 HSPA6 3310 broad.mit.edu 37 1 161495457 161495457 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:161495457G>A uc001gap.2 + 2 1669 c.1009G>A c.(1009-1011)GTC>ATC p.V337I HSPA6_uc001gaq.2_Missense_Mutation_p.V337I NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 337 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCATGACGTCGTCCTGGTGGG 0.597 FCRLA 84824 broad.mit.edu 37 1 161681172 161681172 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:161681172C>A uc001gbe.2 + 4 718 c.476C>A c.(475-477)GCA>GAA p.A159E FCRLA_uc001gbd.2_Missense_Mutation_p.A153E|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 136 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GTACAAAAGGCAGACAGCGGG 0.577 TOR1AIP2 163590 broad.mit.edu 37 1 179815697 179815697 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:179815697G>T uc001gnk.2 - 6 1310 c.922C>A c.(922-924)CTG>ATG p.L308M TOR1AIP2_uc001gnl.2_Missense_Mutation_p.L308M NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 308 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 AGGCACTTCAGGGTCTCTCTT 0.547 PRG4 10216 broad.mit.edu 37 1 186269238 186269238 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:186269238C>T uc001gru.3 + 3 143 c.92C>T c.(91-93)GCA>GTA p.A31V PRG4_uc001grt.3_Intron|PRG4_uc009wyl.2_Missense_Mutation_p.A31V|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 31 SMB 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 TCAAGCTGTGCAGGGAGATGT 0.443 CAMSAP1L1 23271 broad.mit.edu 37 1 200730172 200730172 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:200730172T>C uc001gvl.2 + 2 615 c.345T>C c.(343-345)ACT>ACC p.T115T CAMSAP1L1_uc001gvk.2_Silent_p.T115T|CAMSAP1L1_uc001gvm.2_Silent_p.T115T NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 115 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 TTTATGTCACTGACCAGGAAA 0.423 NAV1 89796 broad.mit.edu 37 1 201778663 201778663 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:201778663A>G uc001gwu.2 + 21 4737 c.4390A>G c.(4390-4392)AAG>GAG p.K1464E NAV1_uc001gwx.2_Missense_Mutation_p.K1073E NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1467 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 CCAAGTGTTCAAGGTAAAGGG 0.343 ADIPOR1 51094 broad.mit.edu 37 1 202914151 202914151 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:202914151C>T uc001gyq.3 - 5 844 c.577G>A c.(577-579)GTC>ATC p.V193I ADIPOR1_uc010pqd.1_Missense_Mutation_p.V117I|ADIPOR1_uc001gyr.3_Intron|ADIPOR1_uc001gys.3_Missense_Mutation_p.V193I NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 193 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TGACAATAGACGGTGTGAAAG 0.443 ADIPOR1 51094 broad.mit.edu 37 1 202917467 202917467 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:202917467G>C uc001gyq.3 - 3 490 c.223C>G c.(223-225)CAC>GAC p.H75D ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.H75D NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 75 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TCCATGGCGTGGTGGGCTTGC 0.567 CHIT1 1118 broad.mit.edu 37 1 203186140 203186140 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:203186140C>T uc001gzn.2 - 11 1374 c.1278G>A c.(1276-1278)GGG>GGA p.G426G FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.G188G|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.G417G NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 426 Chitin-binding type-2. chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 TGGGATAGAGCCCATCAGCTT 0.602 OREG0014113 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DSTYK 25778 broad.mit.edu 37 1 205128728 205128728 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:205128728C>T uc001hbw.2 - 9 2249 c.2185G>A c.(2185-2187)GCT>ACT p.A729T DSTYK_uc001hbx.2_Missense_Mutation_p.A729T NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 729 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 AGGAGCACAGCAATGCTGGAG 0.542 LEMD1 93273 broad.mit.edu 37 1 205350918 205350918 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:205350918G>A uc001hcj.1 - 6 516 c.414C>T c.(412-414)TGC>TGT p.C138C LEMD1_uc001hci.1_Missense_Mutation_p.A91V|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Silent_p.C97C|LEMD1_uc001hcm.1_RNA|LEMD1_uc001hcn.1_RNA|uc001hch.1_Intron Q68G75 LEMD1_HUMAN RecName: Full=LEM domain-containing protein 1; Short=LEMP-1; AltName: Full=Cancer/testis antigen 50; Short=CT50; 138 integral to membrane|nuclear envelope 0 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) GGTCTTCCGCGCAGTAGTCTC 0.488 CENPF 1063 broad.mit.edu 37 1 214813825 214813825 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:214813825A>G uc001hkm.2 + 12 2318 c.2144A>G c.(2143-2145)CAG>CGG p.Q715R NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 715 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAGAAACATCAGAAGGAAATA 0.398 MOSC2 54996 broad.mit.edu 37 1 220953575 220953575 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:220953575T>C uc001hmq.2 + 6 1076 c.878T>C c.(877-879)CTG>CCG p.L293P MOSC2_uc001hmr.2_Missense_Mutation_p.L293P|MOSC2_uc009xdx.2_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN MOCO sulphurase C-terminal domain containing 2 293 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204) CTGGACACCCTGAAGAGGTAG 0.448 DISP1 84976 broad.mit.edu 37 1 223177842 223177842 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:223177842A>G uc001hnu.1 + 8 3250 c.3103A>G c.(3103-3105)AAT>GAT p.N1035D NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1035 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) CTGGGAGCTCAATGTGTTGGA 0.498 DISP1 84976 broad.mit.edu 37 1 223177922 223177922 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:223177922C>T uc001hnu.1 + 8 3330 c.3183C>T c.(3181-3183)CGC>CGT p.R1061R NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1061 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TTGCCTACCGCTTGGCTCCAG 0.587 PARP1 142 broad.mit.edu 37 1 226568810 226568810 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:226568810G>A uc001hqd.3 - 9 1430 c.1259C>T c.(1258-1260)ACG>ATG p.T420M NM_001618 NP_001609 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase family, member 1 420 Automodification domain.|BRCT. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1) 10 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GGCCGTCCCCGTCAACTTCCC 0.478 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA ITPKB 3707 broad.mit.edu 37 1 226924476 226924476 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:226924476C>T uc010pvo.1 - 2 1024 c.684G>A c.(682-684)TCG>TCA p.S228S ITPKB_uc001hqh.2_Silent_p.S228S NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 228 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TCTTCACCTGCGAGGAGCATA 0.607 CABC1 56997 broad.mit.edu 37 1 227152742 227152742 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:227152742C>T uc001hqm.1 + 8 3638 c.219C>T c.(217-219)GGC>GGT p.G73G CABC1_uc010pvp.1_Silent_p.G36G|CABC1_uc001hqn.1_Silent_p.G73G|CABC1_uc009xeq.1_Silent_p.G21G|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 73 cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) AGAACTTCGGCGGCCCAGAAG 0.597 OBSCN 84033 broad.mit.edu 37 1 228470812 228470812 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:228470812C>T uc009xez.1 + 32 8608 c.8564C>T c.(8563-8565)ACG>ATG p.T2855M OBSCN_uc001hsn.2_Missense_Mutation_p.T2855M|OBSCN_uc001hsp.1_Missense_Mutation_p.T554M|OBSCN_uc001hsq.1_Missense_Mutation_p.T111M NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2855 Ig-like 28. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CGGGCGGGAACGCCCGTGCAC 0.662 URB2 9816 broad.mit.edu 37 1 229787056 229787056 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:229787056G>A uc001hts.1 + 8 4360 c.4224G>A c.(4222-4224)CGG>CGA p.R1408R URB2_uc009xfd.1_Silent_p.R1408R NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1408 nucleolus central_nervous_system(2)|ovary(1) 3 GGGAAGGGCGGCAGAAGGACA 0.388 C1orf124 83932 broad.mit.edu 37 1 231474173 231474173 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:231474173G>T uc001hur.2 + 1 492 c.44G>T c.(43-45)TGG>TTG p.W15L EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.W15L|C1orf124_uc001hut.2_Missense_Mutation_p.W15L NM_032018 NP_114407 Q9H040 CA124_HUMAN hypothetical protein LOC83932 isoform a 15 DNA repair nuclear speck DNA binding|metal ion binding 0 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) CAGGAGGAGTGGAACTTGCAG 0.642 PCNXL2 80003 broad.mit.edu 37 1 233397843 233397843 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:233397843C>T uc001hvl.2 - 3 663 c.428G>A c.(427-429)CGC>CAC p.R143H PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 143 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GGAGCTGCAGCGGAGGGGAGG 0.488 ARID4B 51742 broad.mit.edu 37 1 235377281 235377281 + Silent SNP C C T rs113894806 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:235377281C>T uc001hwq.2 - 17 2142 c.1644G>A c.(1642-1644)GAG>GAA p.E548E ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 548 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) cttcttcttcctcctcctcct 0.249 LYST 1130 broad.mit.edu 37 1 235866168 235866168 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:235866168G>A uc001hxj.2 - 45 10428 c.10253C>T c.(10252-10254)GCC>GTC p.A3418V LYST_uc001hxi.2_Missense_Mutation_p.A642V NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3418 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTCACATGGGCCATGTGGAA 0.527 Chediak-Higashi_syndrome RYR2 6262 broad.mit.edu 37 1 237777706 237777706 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:237777706C>T uc001hyl.1 + 37 5398 c.5278C>T c.(5278-5280)CGG>TGG p.R1760W NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1760 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCTCAGGCCACGGATGCAGTT 0.512 CHRM3 1131 broad.mit.edu 37 1 240071274 240071274 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:240071274A>G uc001hyp.2 + 5 1302 c.523A>G c.(523-525)ACG>GCG p.T175A NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 175 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GAGGCCGCTCACGTACCGAGC 0.512 FMN2 56776 broad.mit.edu 37 1 240256612 240256612 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:240256612C>T uc010pyd.1 + 1 1428 c.1203C>T c.(1201-1203)CCC>CCT p.P401P FMN2_uc010pye.1_Silent_p.P401P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 401 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCGGCAGCCCCGCGCCTAGCC 0.706 NLRP3 114548 broad.mit.edu 37 1 247588581 247588581 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:247588581T>C uc001icr.2 + 5 1974 c.1836T>C c.(1834-1836)ATT>ATC p.I612I NLRP3_uc001ics.2_Silent_p.I612I|NLRP3_uc001icu.2_Silent_p.I612I|NLRP3_uc001icw.2_Silent_p.I612I|NLRP3_uc001icv.2_Silent_p.I612I|NLRP3_uc010pyw.1_Silent_p.I610I|NLRP3_uc001ict.1_Silent_p.I610I NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 612 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGAAATGGATTGAAGTGAAAG 0.483 OR2T34 127068 broad.mit.edu 37 1 248737350 248737350 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:248737350C>T uc001iep.1 - 1 709 c.709G>A c.(709-711)GCC>ACC p.A237T NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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) CTGCGGCCGGCGGCAGAATTC 0.562 DIP2C 22982 broad.mit.edu 37 10 433709 433709 + Silent SNP G G A rs143826852 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:433709G>A uc001ifp.2 - 14 1728 c.1638C>T c.(1636-1638)GTC>GTT p.V546V DIP2C_uc009xhj.1_Silent_p.V242V NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 546 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GCCAGAGCCCGACGTCCTTCT 0.552 SFMBT2 57713 broad.mit.edu 37 10 7290596 7290596 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:7290596G>T uc009xio.1 - 8 977 c.886C>A c.(886-888)CGA>AGA p.R296R SFMBT2_uc001ijn.1_Silent_p.R296R|SFMBT2_uc010qay.1_Silent_p.R296R NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 296 MBT 3. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 AAATGGCTTCGCAAATCTGCG 0.483 UPF2 26019 broad.mit.edu 37 10 11990443 11990443 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:11990443T>A uc001ila.2 - 15 3573 c.3099A>T c.(3097-3099)GAA>GAT p.E1033D UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 1033 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) cttcttcttcttcatcctctt 0.154 SPAG6 9576 broad.mit.edu 37 10 22676794 22676794 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:22676794G>A uc001iri.2 + 6 863 c.721G>A c.(721-723)GTG>ATG p.V241M SPAG6_uc001irj.2_Missense_Mutation_p.V241M|SPAG6_uc010qct.1_Missense_Mutation_p.V211M|SPAG6_uc009xkh.2_Missense_Mutation_p.V219M NM_012443 NP_036575 O75602 SPAG6_HUMAN sperm associated antigen 6 isoform 1 241 ARM 6. cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(1) 1 AAAACATTCCGTGGATCTGGC 0.383 APBB1IP 54518 broad.mit.edu 37 10 26800783 26800783 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:26800783T>C uc001iss.2 + 7 960 c.639T>C c.(637-639)TGT>TGC p.C213C APBB1IP_uc009xks.1_Silent_p.C213C NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 213 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AAACTCATTGTGACTGCAATG 0.468 MASTL 84930 broad.mit.edu 37 10 27459730 27459730 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:27459730C>T uc001itm.2 + 8 2481 c.1842C>T c.(1840-1842)TGC>TGT p.C614C MASTL_uc001itl.2_Silent_p.C614C|MASTL_uc009xkw.1_Silent_p.C614C|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 614 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 CACCAGATTGCCAAGAAAAGA 0.403 SVIL 6840 broad.mit.edu 37 10 29839919 29839919 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:29839919G>T uc001iut.1 - 6 1187 c.434C>A c.(433-435)GCT>GAT p.A145D SVIL_uc001iuu.1_Missense_Mutation_p.A145D|SVIL_uc009xld.1_Missense_Mutation_p.A145D NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 145 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CTTCTCGACAGCATCAGGCTC 0.557 ANKRD30A 91074 broad.mit.edu 37 10 37486356 37486356 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:37486356G>T uc001iza.1 + 29 2595 c.2496G>T c.(2494-2496)AAG>AAT p.K832N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 888 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AAATGCAAAAGTCTGTTCCAA 0.308 BMS1 9790 broad.mit.edu 37 10 43292147 43292147 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:43292147A>G uc001jaj.2 + 10 1813 c.1455A>G c.(1453-1455)CGA>CGG p.R485R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 485 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GCATCAAACGACGGAAACTTG 0.483 CSGALNACT2 55454 broad.mit.edu 37 10 43662530 43662530 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:43662530C>A uc001jan.2 + 6 1573 c.1238C>A c.(1237-1239)CCT>CAT p.P413H NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN chondroitin sulfate 413 Lumenal (Potential). chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding ovary(1) 1 GTGCCACCACCTGTGGAGCAG 0.378 GDF2 2658 broad.mit.edu 37 10 48413645 48413645 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:48413645T>C uc001jfa.1 - 2 1386 c.1223A>G c.(1222-1224)GAC>GGC p.D408G NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 408 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CACCCCCATGTCATCCTTGTA 0.602 FRMPD2 143162 broad.mit.edu 37 10 49448448 49448448 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:49448448C>T uc001jgi.2 - 6 762 c.655G>A c.(655-657)GAG>AAG p.E219K FRMPD2_uc001jgh.2_Missense_Mutation_p.E188K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E197K NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 219 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) GCTGGGCTCTCGCTGCTTGTC 0.582 BICC1 80114 broad.mit.edu 37 10 60272971 60272971 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:60272971G>A uc001jki.1 + 1 68 c.68G>A c.(67-69)AGC>AAC p.S23N NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 23 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 AGCGAGCGCAGCACCGACTCC 0.751 PPA1 5464 broad.mit.edu 37 10 71964629 71964629 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:71964629C>T uc001jqv.1 - 10 945 c.838G>A c.(838-840)GTG>ATG p.V280M NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 280 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 GAAATCTTACCGTCTGTTGGT 0.229 POLR3A 11128 broad.mit.edu 37 10 79769344 79769344 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:79769344C>A uc001jzn.2 - 14 1954 c.1860G>T c.(1858-1860)AAG>AAT p.K620N NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 620 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) ACTGCTTGCCCTTGGTTCGCA 0.567 POLR3A 11128 broad.mit.edu 37 10 79769644 79769644 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:79769644A>C uc001jzn.2 - 13 1842 c.1748T>G c.(1747-1749)CTC>CGC p.L583R NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 583 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGGCGGTGGGAGGCGAACTTT 0.478 NRG3 10718 broad.mit.edu 37 10 84498345 84498345 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:84498345C>T uc001kco.2 + 3 993 c.966C>T c.(964-966)GGC>GGT p.G322G NRG3_uc010qlz.1_Silent_p.G322G|NRG3_uc001kcp.2_Silent_p.G101G|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 322 EGF-like.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) GCAAAGAAGGCTACCAAGGAG 0.368 LRIT1 26103 broad.mit.edu 37 10 86001138 86001138 + Missense_Mutation SNP G G A rs149315483 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:86001138G>A uc001kcz.1 - 1 80 c.58C>T c.(58-60)CGG>TGG p.R20W NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 20 integral to endoplasmic reticulum membrane 0 CAGAAGCCCCGGGCCTGGGGG 0.677 GRID1 2894 broad.mit.edu 37 10 87615817 87615817 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:87615817C>T uc001kdl.1 - 7 1183 c.1082G>A c.(1081-1083)GGT>GAT p.G361D GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 361 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GGACCTCCCACCATTCCATGG 0.562 Multiple Myeloma(13;0.14) ACTA2 59 broad.mit.edu 37 10 90708624 90708624 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:90708624C>T uc001kfp.2 - 2 180 c.64G>A c.(64-66)GGC>AGC p.G22S STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.G22S|ACTA2_uc010qmz.1_Missense_Mutation_p.G22S NM_001613 NP_001604 P62736 ACTA_HUMAN alpha 2 actin 22 response to virus cytosol ATP binding 0 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) CCAGCAAAGCCGGCCTTACAG 0.512 TNKS2 80351 broad.mit.edu 37 10 93590876 93590876 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:93590876C>T uc001khp.2 + 11 1510 c.1213C>T c.(1213-1215)CAC>TAC p.H405Y NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 405 ANK 8. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) GACTCCTCTGCACGTGGCATC 0.333 PLCE1 51196 broad.mit.edu 37 10 95791856 95791856 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:95791856G>A uc001kjk.2 + 2 1687 c.1053G>A c.(1051-1053)CTG>CTA p.L351L PLCE1_uc010qnx.1_Silent_p.L351L NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 351 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TGAGAACTCTGCCTTCTGGCC 0.443 NOC3L 64318 broad.mit.edu 37 10 96094000 96094000 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:96094000G>T uc001kjq.1 - 21 2425 c.2337C>A c.(2335-2337)TAC>TAA p.Y779* NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 779 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) CTTCACTGGAGTATCTTTTGA 0.318 DNMBP 23268 broad.mit.edu 37 10 101715833 101715833 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:101715833G>T uc001kqj.2 - 4 1490 c.1398C>A c.(1396-1398)TCC>TCA p.S466S NCRNA00093_uc001kqk.1_Intron NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 466 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TTTTTAGCTGGGAATACATTC 0.517 DNMBP 23268 broad.mit.edu 37 10 101716831 101716831 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:101716831G>T uc001kqj.2 - 4 492 c.400C>A c.(400-402)CAC>AAC p.H134N NCRNA00093_uc001kqk.1_RNA NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 134 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTCTGGGAGTGCCACTGCCGG 0.617 LBX1 10660 broad.mit.edu 37 10 102987321 102987321 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:102987321C>A uc001ksx.2 - 2 697 c.552G>T c.(550-552)CTG>CTT p.L184L uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 184 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) TCATCTCCTCCAGGTCCCGCT 0.647 SORCS3 22986 broad.mit.edu 37 10 106865237 106865237 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:106865237T>C uc001kyi.1 + 7 1403 c.1176T>C c.(1174-1176)AGT>AGC p.S392S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 392 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTGACATCAGTTCCCTGGTTG 0.502 ABLIM1 3983 broad.mit.edu 37 10 116247739 116247739 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:116247739G>A uc010qsg.1 - 8 1118 c.1019C>T c.(1018-1020)ACG>ATG p.T340M ABLIM1_uc010qsh.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsi.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsk.1_Missense_Mutation_p.T264M|ABLIM1_uc009xyp.2_Missense_Mutation_p.T274M|ABLIM1_uc010qsf.1_Missense_Mutation_p.T24M|ABLIM1_uc009xyn.2_Missense_Mutation_p.T17M|ABLIM1_uc010qsj.1_Missense_Mutation_p.T17M|ABLIM1_uc009xyo.2_Missense_Mutation_p.T188M NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 340 LIM zinc-binding 4. axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CTCGGTCTTCGTAGATTGCTT 0.483 FGFR2 2263 broad.mit.edu 37 10 123325059 123325059 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:123325059T>G uc010qtk.1 - 3 916 c.269A>C c.(268-270)GAG>GCG p.E90A FGFR2_uc010qtg.1_Missense_Mutation_p.E90A|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.E90A|FGFR2_uc010qtl.1_Missense_Mutation_p.E90A|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.E90A|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.E109A|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.E109A|FGFR2_uc010qtp.1_Missense_Mutation_p.E109A|FGFR2_uc010qtq.1_Missense_Mutation_p.E109A NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 90 Ig-like C2-type 1.|Extracellular (Potential). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CTGCAAGTACTCCCCAATAAG 0.527 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome MMP21 118856 broad.mit.edu 37 10 127462527 127462527 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:127462527G>A uc001liu.2 - 2 570 c.570C>T c.(568-570)TCC>TCT p.S190S NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 190 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GGTCGGCCACGGACAGTTGGC 0.741 EBF3 253738 broad.mit.edu 37 10 131757223 131757223 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:131757223G>A uc001lki.1 - 5 519 c.460C>T c.(460-462)CTG>TTG p.L154L NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 154 C5-type (Potential). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGGGTCAGCAGCACACGGCAC 0.562 PPP2R2D 55844 broad.mit.edu 37 10 133753565 133753565 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:133753565T>C uc001lks.2 + 2 373 c.130T>C c.(130-132)TAT>CAT p.Y44H PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR NM_018461 NP_060931 Q66LE6 2ABD_HUMAN protein phosphatase 2, regulatory subunit B, 77 cell division|exit from mitosis|mitosis|signal transduction cytoplasm|protein phosphatase type 2A complex protein phosphatase type 2A regulator activity skin(1) 1 all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21) TAGGGGAGAATATAATGTTTA 0.338 INPP5A 3632 broad.mit.edu 37 10 134563059 134563059 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:134563059C>T uc001llp.2 + 10 1019 c.771C>T c.(769-771)GCC>GCT p.A257A INPP5A_uc001llo.1_Silent_p.A257A|INPP5A_uc001llq.2_Intron NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 257 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) CGGTCCGGGCCGCCGACACCA 0.627 ADAM8 101 broad.mit.edu 37 10 135084567 135084567 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:135084567G>A uc010qva.1 - 13 1316 c.1265C>T c.(1264-1266)CCG>CTG p.P422L ADAM8_uc010quz.1_Missense_Mutation_p.P461L|ADAM8_uc009ybi.2_Missense_Mutation_p.P461L P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 422 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CTCACCAGCCGGCTTCACCTG 0.647 PSMD13 5719 broad.mit.edu 37 11 252595 252595 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:252595A>G uc001lol.2 + 13 1368 c.1126A>G c.(1126-1128)ACC>GCC p.T376A PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.T378A|PSMD13_uc001lon.2_Missense_Mutation_p.T311A|PSMD13_uc001lom.2_Missense_Mutation_p.T351A|PSMD13_uc001lop.2_Missense_Mutation_p.T159A NM_002817 NP_002808 Q9UNM6 PSD13_HUMAN proteasome 26S non-ATPase subunit 13 isoform 1 376 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding ovary(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129) TGACATCCTCACCTAGGGCCC 0.557 MUC6 4588 broad.mit.edu 37 11 1018569 1018569 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:1018569G>T uc001lsw.2 - 31 4283 c.4232C>A c.(4231-4233)ACG>AAG p.T1411K NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1411 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACTCCCCGCCGTAGGCGGGGA 0.582 MUC2 4583 broad.mit.edu 37 11 1085752 1085752 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:1085752C>T uc001lsx.1 + 21 2700 c.2673C>T c.(2671-2673)TGC>TGT p.C891C NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 891 VWFD 3. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) AGGACTACTGCGGCCAGAACT 0.637 INS-IGF2 723961 broad.mit.edu 37 11 2170546 2170546 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:2170546A>G uc001lvm.2 - 3 276 c.217T>C c.(217-219)TCA>CCA p.S73P IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA NM_001042376 NP_001035835 Q1WM24 Q1WM24_HUMAN insulin- insulin-like growth factor 2 73 glucose metabolic process extracellular region hormone activity 0 all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156) GGCCAGGTTGACGTGGAGGAG 0.582 CARS 833 broad.mit.edu 37 11 3022438 3022438 + Missense_Mutation SNP T T C rs143403960 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:3022438T>C uc001lxh.2 - 22 2227 c.2153A>G c.(2152-2154)AAA>AGA p.K718R CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.K708R|CARS_uc001lxf.2_Missense_Mutation_p.K801R|CARS_uc001lxg.2_Missense_Mutation_p.K721E|CARS_uc010qxo.1_Missense_Mutation_p.K804E|CARS_uc010qxp.1_Missense_Mutation_p.K734E NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 718 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) GGCTTGCCCTTTGCTGAGCTC 0.557 T ALK ALCL TRIM68 55128 broad.mit.edu 37 11 4621712 4621712 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:4621712C>A uc001lzf.1 - 7 1490 c.1252G>T c.(1252-1254)GTC>TTC p.V418F TRIM68_uc001lzg.1_Missense_Mutation_p.V195F|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 418 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CGAGGAGGGACCGGCAAGGAC 0.537 OR51B4 79339 broad.mit.edu 37 11 5322281 5322281 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:5322281C>A uc010qza.1 - 1 896 c.896G>T c.(895-897)AGC>ATC p.S299I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCGAATAATGCTTCTTTGAAT 0.428 PRKCDBP 112464 broad.mit.edu 37 11 6340498 6340498 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:6340498C>T uc001mcu.1 - 2 715 c.681G>A c.(679-681)GCG>GCA p.A227A NM_145040 NP_659477 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 227 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGGGCTCCAGCGCAGGCTGGG 0.706 SMPD1 6609 broad.mit.edu 37 11 6412941 6412941 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:6412941C>T uc001mcw.2 + 2 820 c.646C>T c.(646-648)CTG>TTG p.L216L SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Silent_p.L216L|SMPD1_uc009yew.2_Silent_p.L215L NM_000543 NP_000534 P17405 ASM_HUMAN sphingomyelin phosphodiesterase 1, acid 214 cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction lysosome hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) Desipramine(DB01151) TCATGACTACCTGGAGGGCAC 0.682 HPX 3263 broad.mit.edu 37 11 6461427 6461427 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:6461427G>A uc001mdg.2 - 4 365 c.304C>T c.(304-306)CGT>TGT p.R102C HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.R102C NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 102 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TGACCTTGACGGAATGCAGCA 0.527 OR10A5 144124 broad.mit.edu 37 11 6867802 6867802 + Missense_Mutation SNP G G A rs146897268 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:6867802G>A uc001met.1 + 1 889 c.889G>A c.(889-891)GAG>AAG p.E297K NM_178168 NP_835462 Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E297K(1) skin(2)|ovary(1) 3 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAGAAATAGCGAGGTGAAGAA 0.418 ST5 6764 broad.mit.edu 37 11 8732756 8732756 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:8732756A>G uc001mgt.2 - 10 2381 c.2195T>C c.(2194-2196)ATG>ACG p.M732T ST5_uc009yfr.2_Missense_Mutation_p.M312T|ST5_uc001mgu.2_Missense_Mutation_p.M312T|ST5_uc001mgv.2_Missense_Mutation_p.M732T|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.M245T|ST5_uc009yfs.2_RNA NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 732 UDENN. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TGCCTCTCGCATCTGCTTGGT 0.597 IPO7 10527 broad.mit.edu 37 11 9444593 9444593 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:9444593A>G uc001mho.2 + 9 1089 c.947A>G c.(946-948)TAT>TGT p.Y316C NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 316 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GAGAAGCAATATATGGCTCCT 0.323 AMPD3 272 broad.mit.edu 37 11 10517233 10517233 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:10517233G>A uc001mio.1 + 9 1718 c.1383G>A c.(1381-1383)AAG>AAA p.K461K AMPD3_uc010rbz.1_Silent_p.K302K|AMPD3_uc001min.1_Silent_p.K470K|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.K468K|AMPD3_uc009yfy.2_Silent_p.K461K NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 461 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TCCAGCACAAGGTCTACTCTC 0.577 NAV2 89797 broad.mit.edu 37 11 19954794 19954794 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:19954794G>A uc010rdm.1 + 8 1434 c.1073G>A c.(1072-1074)AGC>AAC p.S358N NAV2_uc001mpp.2_Missense_Mutation_p.S271N|NAV2_uc001mpr.3_Missense_Mutation_p.S335N NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 358 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GAGAGCGGCAGCAGCTCCACC 0.602 ANO3 63982 broad.mit.edu 37 11 26620415 26620415 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:26620415G>A uc001mqt.3 + 16 1686 c.1541G>A c.(1540-1542)CGT>CAT p.R514H ANO3_uc010rdr.1_Missense_Mutation_p.R498H|ANO3_uc010rds.1_Missense_Mutation_p.R353H|ANO3_uc010rdt.1_Missense_Mutation_p.R368H NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 514 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAAACACTTCGTCCCCAGTTT 0.393 ANO3 63982 broad.mit.edu 37 11 26677939 26677939 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:26677939G>T uc001mqt.3 + 26 2819 c.2674G>T c.(2674-2676)GGC>TGC p.G892C ANO3_uc010rdr.1_Missense_Mutation_p.G876C|ANO3_uc010rds.1_Missense_Mutation_p.G731C|ANO3_uc010rdt.1_Missense_Mutation_p.G746C NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 892 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGACTACAGAGGCCCGCCCTG 0.408 EHF 26298 broad.mit.edu 37 11 34680408 34680408 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:34680408G>A uc001mvr.1 + 9 944 c.833G>A c.(832-834)CGT>CAT p.R278H EHF_uc009yke.1_Missense_Mutation_p.R255H|EHF_uc009ykf.1_Missense_Mutation_p.R281H NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 278 ETS. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) ATTCTGGAGCGTGTGGATGGA 0.408 PAMR1 25891 broad.mit.edu 37 11 35457486 35457486 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:35457486C>A uc001mwg.2 - 9 1341 c.1298G>T c.(1297-1299)GGG>GTG p.G433V PAMR1_uc001mwf.2_Missense_Mutation_p.G450V|PAMR1_uc010rew.1_Missense_Mutation_p.G322V|PAMR1_uc010rex.1_Missense_Mutation_p.G393V NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 433 Sushi 2. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 ACTCCACTTCCCAGTCCTCAG 0.552 DGKZ 8525 broad.mit.edu 37 11 46400607 46400607 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:46400607C>T uc001ncn.1 + 29 3174 c.3049C>T c.(3049-3051)CAC>TAC p.H1017Y DGKZ_uc001nch.1_Missense_Mutation_p.H845Y|DGKZ_uc010rgq.1_3'UTR|DGKZ_uc001ncj.1_Missense_Mutation_p.H795Y|DGKZ_uc010rgr.1_Missense_Mutation_p.H794Y|DGKZ_uc001nck.1_Missense_Mutation_p.H607Y|DGKZ_uc001ncl.2_Missense_Mutation_p.H829Y|DGKZ_uc001ncm.2_Missense_Mutation_p.H828Y|DGKZ_uc009yky.1_Missense_Mutation_p.H829Y|DGKZ_uc010rgs.1_Missense_Mutation_p.H806Y|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank|MDK_uc001ncp.2_5'Flank|MDK_uc009yla.2_5'Flank|MDK_uc009ylb.2_5'Flank|MDK_uc001ncq.2_5'Flank|MDK_uc001ncr.2_5'Flank|MDK_uc001ncs.2_5'Flank NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 1017 ANK 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CACGCTCCTGCACCACGCAGT 0.687 AMBRA1 55626 broad.mit.edu 37 11 46529844 46529844 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:46529844T>C uc010rgu.1 - 9 2596 c.2236A>G c.(2236-2238)ATG>GTG p.M746V AMBRA1_uc010rgt.1_Missense_Mutation_p.M312V|AMBRA1_uc009ylc.1_Missense_Mutation_p.M717V|AMBRA1_uc001ncu.1_Missense_Mutation_p.M656V|AMBRA1_uc001ncv.2_Missense_Mutation_p.M749V|AMBRA1_uc001ncw.2_Missense_Mutation_p.M627V|AMBRA1_uc001ncx.2_Intron NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 746 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TGGTAGCGCATGGAGCGCTGG 0.517 MADD 8567 broad.mit.edu 37 11 47307995 47307995 + Missense_Mutation SNP C C T rs144471266 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:47307995C>T uc001ner.1 + 15 2754 c.2563C>T c.(2563-2565)CGG>TGG p.R855W MADD_uc001neq.2_Missense_Mutation_p.R855W|MADD_uc001nev.1_Missense_Mutation_p.R812W|MADD_uc001nes.1_Missense_Mutation_p.R812W|MADD_uc001net.1_Missense_Mutation_p.R855W|MADD_uc009yln.1_Missense_Mutation_p.R812W|MADD_uc001neu.1_Missense_Mutation_p.R812W|MADD_uc001nex.2_Missense_Mutation_p.R855W|MADD_uc001nez.2_Missense_Mutation_p.R812W|MADD_uc001new.2_Missense_Mutation_p.R855W NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 855 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) CAGCCTCTATCGGAACCACAG 0.522 OR4C46 119749 broad.mit.edu 37 11 51515609 51515609 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:51515609G>T uc010ric.1 + 1 328 c.328G>T c.(328-330)GGC>TGC p.G110C NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 110 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGGTGCAGAGGGCATCCTACT 0.468 OR5D13 390142 broad.mit.edu 37 11 55541473 55541473 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:55541473T>C uc010ril.1 + 1 560 c.560T>C c.(559-561)GTT>GCT p.V187A NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TCTGTAATTGTTTCTGCCTCC 0.378 OR5A1 219982 broad.mit.edu 37 11 59211096 59211096 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:59211096A>G uc001nnx.1 + 1 455 c.455A>G c.(454-456)TAT>TGT p.Y152C NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GTTGGGGCATATGTTGGTGGC 0.547 DAK 26007 broad.mit.edu 37 11 61110054 61110054 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:61110054C>T uc001nre.2 + 9 956 c.699C>T c.(697-699)ACC>ACT p.T233T DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T163T NM_015533 NP_056348 Q3LXA3 DHAK_HUMAN dihydroxyacetone kinase 2 233 DhaK. glycerol metabolic process cytosol ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding 0 AGATGGCAACCGCCGATGAGA 0.617 RAB3IL1 5866 broad.mit.edu 37 11 61672063 61672063 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:61672063G>A uc001nso.2 - 7 1012 c.854C>T c.(853-855)ACG>ATG p.T285M RAB3IL1_uc001nsp.2_Missense_Mutation_p.T259M NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 285 protein binding skin(2)|central_nervous_system(1) 3 TGTGGGCAGCGTCTGCGAAGC 0.637 INCENP 3619 broad.mit.edu 37 11 61897874 61897874 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:61897874C>T uc001nsw.1 + 4 1077 c.875C>T c.(874-876)ACG>ATG p.T292M INCENP_uc009ynv.2_Missense_Mutation_p.T292M|INCENP_uc009ynw.1_Missense_Mutation_p.T292M|INCENP_uc001nsx.1_Missense_Mutation_p.T292M NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 292 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding lung(1) 1 AACTTCTCCACGCCCACGGGC 0.647 AHNAK 79026 broad.mit.edu 37 11 62286120 62286120 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:62286120C>T uc001ntl.2 - 5 16069 c.15769G>A c.(15769-15771)GCC>ACC p.A5257T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5257 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGTAGCTGGGCATGGACCTCG 0.527 AHNAK 79026 broad.mit.edu 37 11 62299988 62299988 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:62299988G>T uc001ntl.2 - 5 2201 c.1901C>A c.(1900-1902)CCC>CAC p.P634H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 634 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GCTGAACGTGGGCATTTTCAT 0.507 HNRNPUL2 221092 broad.mit.edu 37 11 62491094 62491094 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:62491094C>T uc001nuw.2 - 4 1049 c.856G>A c.(856-858)GGA>AGA p.G286R HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 286 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 TTTGTCACTCCGTAAGTACTC 0.438 PLA2G16 11145 broad.mit.edu 37 11 63357621 63357621 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:63357621C>T uc001nxh.2 - 3 761 c.338G>A c.(337-339)TGC>TAC p.C113Y PLA2G16_uc001nxi.2_Missense_Mutation_p.C125Y|PLA2G16_uc009you.1_Missense_Mutation_p.C113Y NM_007069 NP_009000 P53816 PAG16_HUMAN HRAS-like suppressor 3 113 C->S: No effect on PPP2R1A-binding. lipid catabolic process integral to membrane|perinuclear region of cytoplasm hydrolase activity|protein binding ovary(1) 1 AAAGTGCTCGCAGTTCTCACT 0.602 MARK2 2011 broad.mit.edu 37 11 63667452 63667452 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:63667452C>T uc001nxw.2 + 8 1217 c.638C>T c.(637-639)CCC>CTC p.P213L MARK2_uc001nxx.2_Missense_Mutation_p.P213L|MARK2_uc001nxy.2_Missense_Mutation_p.P213L|MARK2_uc001nxv.3_Missense_Mutation_p.P213L|MARK2_uc001nxz.3_Missense_Mutation_p.P180L|MARK2_uc009yoy.2_Missense_Mutation_p.P180L NM_001039469 NP_001034558 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 213 Protein kinase. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 TGTGGCAGTCCCCCTTATGCT 0.493 SCYL1 57410 broad.mit.edu 37 11 65294590 65294590 + Splice_Site SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65294590T>C uc001oea.1 + 6 926 c.849_splice c.e6+2 p.Q283_splice SCYL1_uc009yqk.2_Splice_Site_p.Q283_splice|SCYL1_uc001oeb.1_Splice_Site_p.Q283_splice|SCYL1_uc001oec.1_Splice_Site_p.Q283_splice|SCYL1_uc001oed.1_Splice_Site_p.Q140_splice NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 GAGATTCAGGTGAGCCCCCAA 0.527 LTBP3 4054 broad.mit.edu 37 11 65319752 65319752 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65319752C>T uc001oej.2 - 7 1581 c.1312G>A c.(1312-1314)GCG>ACG p.A438T LTBP3_uc010roi.1_Missense_Mutation_p.A321T|LTBP3_uc001oei.2_Missense_Mutation_p.A438T|LTBP3_uc010roj.1_Missense_Mutation_p.A139T|LTBP3_uc010rok.1_Missense_Mutation_p.A349T NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 438 TB 2. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 TGACACCGCGCGCCCCAGGCC 0.642 OREG0021081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SIPA1 6494 broad.mit.edu 37 11 65409996 65409996 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65409996G>A uc001ofb.2 + 4 1037 c.870G>A c.(868-870)CTG>CTA p.L290L SIPA1_uc010rom.1_Silent_p.L290L|SIPA1_uc001ofd.2_Silent_p.L290L NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 290 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 CACGGGGTCTGTCCCCAAGGA 0.667 SIPA1 6494 broad.mit.edu 37 11 65417935 65417935 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65417935G>A uc001ofb.2 + 15 3134 c.2967G>A c.(2965-2967)CAG>CAA p.Q989Q SIPA1_uc010rom.1_Silent_p.Q887Q|SIPA1_uc001ofd.2_Silent_p.Q989Q NM_006747 NP_006738 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated protein 989 Potential. cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity 0 GGAAGCTGCAGGAGGACCTGC 0.632 CTSW 1521 broad.mit.edu 37 11 65650127 65650127 + Missense_Mutation SNP G G A rs150421438 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65650127G>A uc001ogc.1 + 6 628 c.586G>A c.(586-588)GTC>ATC p.V196I CTSW_uc001ogb.1_Missense_Mutation_p.V196I NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 196 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) CGGTGGCTTCGTCTGGGACGC 0.637 TSGA10IP 254187 broad.mit.edu 37 11 65721060 65721060 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65721060C>T uc001ogk.1 + 7 1206 c.1174C>T c.(1174-1176)CGG>TGG p.R392W TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 392 Potential. 0 GGCCTGGGAGCGGCAGCGGCA 0.697 CATSPER1 117144 broad.mit.edu 37 11 65792833 65792833 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:65792833C>T uc001ogt.2 - 1 1156 c.1018G>A c.(1018-1020)GGC>AGC p.G340S NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 340 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 GCAGCAGGGCCGGGGGCATCG 0.597 NPAS4 266743 broad.mit.edu 37 11 66188741 66188741 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:66188741G>A uc001ohx.1 + 1 267 c.91G>A c.(91-93)GAA>AAA p.E31K NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 31 Potential.|Helix-loop-helix motif. transcription, DNA-dependent DNA binding|signal transducer activity 0 GCCGCTGGCCGAAGCGGACAA 0.657 SPTBN2 6712 broad.mit.edu 37 11 66460509 66460509 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:66460509G>T uc001ojd.2 - 24 4989 c.4917C>A c.(4915-4917)GAC>GAA p.D1639E NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1639 Spectrin 13. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCTGCGCGTAGTCGGCCAGGG 0.662 LRFN4 78999 broad.mit.edu 37 11 66625483 66625483 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:66625483C>T uc001ojr.2 + 1 608 c.268C>T c.(268-270)CGC>TGC p.R90C PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R90C|LRFN4_uc001ojs.2_Missense_Mutation_p.R90C NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 90 Extracellular (Potential).|LRR 2. integral to membrane 0 CATTGGGGCCCGCGCCTTTGG 0.657 KDM2A 22992 broad.mit.edu 37 11 67021875 67021875 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:67021875A>G uc001ojw.2 + 20 4157 c.3293A>G c.(3292-3294)GAG>GGG p.E1098G KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.E792G|KDM2A_uc001ojz.1_Missense_Mutation_p.E556G|KDM2A_uc001oka.2_Missense_Mutation_p.E222G NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1098 LRR 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 TCTCTCACAGAGCTCAATATG 0.537 SHANK2 22941 broad.mit.edu 37 11 70332482 70332482 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:70332482A>T uc001oqc.2 - 21 3994 c.3916T>A c.(3916-3918)TCC>ACC p.S1306T SHANK2_uc010rqn.1_Missense_Mutation_p.S718T|SHANK2_uc001opz.2_Missense_Mutation_p.S711T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 927 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTCTGCTGGGACGTGTCCATG 0.597 ARHGEF17 9828 broad.mit.edu 37 11 73074493 73074493 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:73074493G>A uc001otu.2 + 15 5260 c.5239G>A c.(5239-5241)GAT>AAT p.D1747N NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1747 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity 0 GGGCACTGAGGATGGCTGGTA 0.647 P4HA3 283208 broad.mit.edu 37 11 74015430 74015430 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:74015430A>G uc001ouz.2 - 2 271 c.228T>C c.(226-228)CAT>CAC p.H76H P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.H76H NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 76 endoplasmic reticulum lumen 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-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) TTGAATCCTCATGCAAAGAAA 0.478 CAPN5 726 broad.mit.edu 37 11 76825449 76825449 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:76825449G>C uc001oxx.2 + 5 853 c.668G>C c.(667-669)AGC>ACC p.S223T CAPN5_uc009yup.2_Missense_Mutation_p.S263T|CAPN5_uc009yuq.2_Missense_Mutation_p.S259T|CAPN5_uc001oxy.2_Missense_Mutation_p.S263T NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 223 Calpain catalytic. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 AAGGTGCACAGCCGGGGCGGC 0.587 OREG0021255 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PCF11 51585 broad.mit.edu 37 11 82877707 82877707 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:82877707A>C uc001ozx.3 + 5 2113 c.1768A>C c.(1768-1770)AGT>CGT p.S590R PCF11_uc010rsu.1_Missense_Mutation_p.S590R NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 590 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AAACTGGCAAAGTTCCAAGTC 0.373 CTSC 1075 broad.mit.edu 37 11 88045562 88045562 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:88045562T>C uc001pck.3 - 3 580 c.479A>G c.(478-480)CAG>CGG p.Q160R CTSC_uc001pcl.3_Intron NM_001814 NP_001805 P53634 CATC_HUMAN cathepsin C isoform a preproprotein 160 immune response lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCACTTTTCCTGAGAATTCTT 0.368 GRM5 2915 broad.mit.edu 37 11 88300827 88300827 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:88300827C>A uc001pcq.2 - 7 2224 c.2024G>T c.(2023-2025)GGC>GTC p.G675V GRM5_uc009yvm.2_Missense_Mutation_p.G675V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 675 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CTTCTTGCTGCCAGCCAGGAT 0.478 GRM5 2915 broad.mit.edu 37 11 88780392 88780392 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:88780392C>T uc001pcq.2 - 1 849 c.649G>A c.(649-651)GTG>ATG p.V217M GRM5_uc009yvm.2_Missense_Mutation_p.V217M|GRM5_uc009yvn.1_Missense_Mutation_p.V217M NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 217 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TCTGTGTGCACGGCTGATACA 0.413 GUCY1A2 2977 broad.mit.edu 37 11 106579331 106579331 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:106579331C>T uc001pjg.1 - 7 2288 c.1898G>A c.(1897-1899)CGT>CAT p.R633H GUCY1A2_uc010rvo.1_Missense_Mutation_p.R654H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R664H NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 633 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CAGGCAATAACGTGGCATTCG 0.468 ATM 472 broad.mit.edu 37 11 108114793 108114793 + Nonsense_Mutation SNP G G T rs147915571 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:108114793G>T uc001pkb.1 + 6 995 c.610G>T c.(610-612)GGA>TGA p.G204* ATM_uc009yxr.1_Nonsense_Mutation_p.G204* NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 204 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGACTGACGGATTAAATTC 0.348 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) ATM 472 broad.mit.edu 37 11 108155113 108155113 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:108155113T>C uc001pkb.1 + 26 4291 c.3906T>C c.(3904-3906)GGT>GGC p.G1302G ATM_uc009yxr.1_Silent_p.G1302G NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1302 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.V1292_Q1331del(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CCTATGAGGGTACCAGAGACA 0.393 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) DDX10 1662 broad.mit.edu 37 11 108709179 108709179 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:108709179G>T uc001pkm.2 + 14 2037 c.1972G>T c.(1972-1974)GAA>TAA p.E658* DDX10_uc001pkl.1_Nonsense_Mutation_p.E658* NM_004398 NP_004389 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 658 E -> D (in Ref. 1; AAC50823). ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|lung(1)|prostate(1) 4 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) ACAGAAGAAAGAACCTTCTAA 0.308 T NUP98 AML* BCO2 83875 broad.mit.edu 37 11 112071463 112071463 + Silent SNP G G A rs139911945 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:112071463G>A uc001pnf.2 + 7 1110 c.993G>A c.(991-993)ACG>ACA p.T331T BCO2_uc001pne.1_Silent_p.T158T|BCO2_uc001png.2_Silent_p.T258T|BCO2_uc001pnh.2_Silent_p.T297T|BCO2_uc010rwt.1_Silent_p.T226T|BCO2_uc009yyn.2_Silent_p.T297T|BCO2_uc001pni.2_Silent_p.T297T NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 331 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGTGTAATACGCGGTTTCATG 0.398 ATP5L 10632 broad.mit.edu 37 11 118272414 118272414 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:118272414A>G uc001psx.2 + 1 311 c.34A>G c.(34-36)ACC>GCC p.T12A NM_006476 NP_006467 O75964 ATP5L_HUMAN ATP synthase, H+ transporting, mitochondrial F0 12 ATP catabolic process|respiratory electron transport chain mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|protein binding 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05) TGTGGAGAAGACCCCGGCGCT 0.667 MLL 4297 broad.mit.edu 37 11 118343133 118343133 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:118343133G>A uc001pta.2 + 3 1282 c.1259G>A c.(1258-1260)CGG>CAG p.R420Q MLL_uc001ptb.2_Missense_Mutation_p.R420Q|MLL_uc001psz.1_Missense_Mutation_p.R453Q|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 420 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) ATCTCCTCGCGGATCATTAAG 0.448 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL ABCG4 64137 broad.mit.edu 37 11 119025561 119025561 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:119025561C>T uc001pvs.2 + 6 958 c.622C>T c.(622-624)CGT>TGT p.R208C ABCG4_uc009zar.2_Missense_Mutation_p.R208C NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 208 Cytoplasmic (Potential).|ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GCAGAGGAAGCGTCTGGCCAT 0.622 NLRX1 79671 broad.mit.edu 37 11 119052945 119052945 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:119052945C>A uc001pvu.2 + 9 2712 c.2497C>A c.(2497-2499)CGC>AGC p.R833S NLRX1_uc001pvv.2_Missense_Mutation_p.R833S|NLRX1_uc001pvw.2_Missense_Mutation_p.R833S|NLRX1_uc001pvx.2_Missense_Mutation_p.R833S NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 833 LRR 5.|Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCAGCTGGACCGCAACCGGCA 0.677 THY1 7070 broad.mit.edu 37 11 119290951 119290951 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:119290951G>A uc001pwq.2 - 2 217 c.183C>T c.(181-183)CAC>CAT p.H61H uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Silent_p.H61H|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 61 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) CAAAGAGCACGTGCTTCTTTG 0.547 TBCEL 219899 broad.mit.edu 37 11 120930727 120930727 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:120930727C>T uc009zay.2 + 7 967 c.889C>T c.(889-891)CGA>TGA p.R297* TBCEL_uc001pxo.2_Nonsense_Mutation_p.R297*|TBCEL_uc001pxp.2_Nonsense_Mutation_p.R153*|TBCEL_uc001pxq.2_RNA NM_001130047 NP_001123519 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 297 LRRCT. cytoplasm|cytoskeleton skin(1) 1 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TGATGGTGAACGAGAAGATTC 0.333 SCN3B 55800 broad.mit.edu 37 11 123513213 123513213 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:123513213T>C uc001pza.1 - 4 793 c.386A>G c.(385-387)GAG>GGG p.E129G SCN3B_uc001pzb.1_Missense_Mutation_p.E129G NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 129 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CCGATGCGCCTCAAACTCAAA 0.597 OR8G2 26492 broad.mit.edu 37 11 124095415 124095415 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:124095415C>A uc010saf.1 + 1 18 c.18C>A c.(16-18)TCC>TCA p.S6S NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 6 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) TTCTTTCCTCCGTAGAAACTG 0.473 OR8B3 390271 broad.mit.edu 37 11 124266650 124266650 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:124266650G>A uc010saj.1 - 1 598 c.598C>T c.(598-600)CTC>TTC p.L200F OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACAACAATGAGAACAACCACC 0.428 FEZ1 9638 broad.mit.edu 37 11 125324074 125324074 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:125324074C>T uc001qbx.2 - 7 1124 c.972G>A c.(970-972)CTG>CTA p.L324L FEZ1_uc001qbw.2_Silent_p.L114L NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 324 axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) TGCCACTCTGCAGAATGTTGG 0.557 ARHGAP32 9743 broad.mit.edu 37 11 128840449 128840449 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:128840449G>T uc009zcp.2 - 22 4617 c.4617C>A c.(4615-4617)GCC>GCA p.A1539A ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A498A|ARHGAP32_uc001qez.2_Silent_p.A1190A NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1539 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TTCTTCCTGGGGCCACATATG 0.527 ARHGAP32 9743 broad.mit.edu 37 11 129062071 129062071 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:129062071C>T uc009zcp.2 - 1 23 c.23G>A c.(22-24)AGC>AAC p.S8N NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 8 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CCCTAAAGTGCTACTCTCACT 0.403 ADAMTS8 11095 broad.mit.edu 37 11 130281444 130281444 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:130281444G>A uc001qgg.3 - 6 1976 c.1618C>T c.(1618-1620)CGG>TGG p.R540W ADAMTS8_uc001qgf.2_Missense_Mutation_p.R21W NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 540 TSP type-1 1. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCACAGGTCCGAGAACATTCT 0.582 GLB1L3 112937 broad.mit.edu 37 11 134153716 134153716 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:134153716A>G uc009zdf.2 + 6 973 c.613A>G c.(613-615)ATT>GTT p.I205V GLB1L3_uc010scs.1_Missense_Mutation_p.I205V|GLB1L3_uc010sct.1_Missense_Mutation_p.I57V NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 205 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) TGACCACCTGATTCCCAGAGT 0.493 IQSEC3 440073 broad.mit.edu 37 12 248455 248455 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:248455G>A uc001qhw.1 + 1 1023 c.1017G>A c.(1015-1017)TCG>TCA p.S339S IQSEC3_uc001qhu.1_Silent_p.S339S|IQSEC3_uc001qht.1_Silent_p.S424S|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 642 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCTGCAAGTCGCCCACGCTCT 0.682 ANO2 57101 broad.mit.edu 37 12 5963246 5963246 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:5963246T>C uc001qnm.2 - 4 656 c.584A>G c.(583-585)GAG>GGG p.E195G NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 199 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GAATTCTGCCTCTCTGGCCAG 0.473 NOP2 4839 broad.mit.edu 37 12 6669713 6669713 + Translation_Start_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:6669713C>T uc001qpj.1 - 4 284 c.-265G>A c.(-267--263)CTGTG>CTATG NOP2_uc009zeq.1_Missense_Mutation_p.C199Y|NOP2_uc001qph.1_Missense_Mutation_p.C483Y|NOP2_uc001qpi.1_Missense_Mutation_p.C483Y P46087 NOP2_HUMAN Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120. positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 GAGGTGAGCACAGCGCAGGAT 0.547 CD4 920 broad.mit.edu 37 12 6925423 6925423 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:6925423C>A uc001qqv.1 + 6 1054 c.809C>A c.(808-810)CCT>CAT p.P270H CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.P91H|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR NM_000616 NP_000607 P01730 CD4_HUMAN CD4 antigen precursor 270 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding 0 Myeloproliferative disorder(1001;0.0122) ACCCAGGACCCTAAGCTCCAG 0.587 SLC2A3 6515 broad.mit.edu 37 12 8083159 8083159 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:8083159A>G uc001qtr.2 - 5 852 c.590T>C c.(589-591)CTA>CCA p.L197P SLC2A3_uc001qts.2_Missense_Mutation_p.L197P NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 197 Helical; Name=6; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TGCACTTTGTAGGATAGCAGG 0.443 CLEC4A 50856 broad.mit.edu 37 12 8288248 8288248 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:8288248T>C uc001qtz.1 + 4 613 c.366T>C c.(364-366)ACT>ACC p.T122T CLEC4A_uc009zga.1_Silent_p.T83T|CLEC4A_uc001qub.1_Silent_p.T89T|CLEC4A_uc001quc.1_Silent_p.T50T|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank NM_016184 NP_057268 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A isoform 122 Extracellular (Potential).|C-type lectin. cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 Kidney(36;0.0915) TTATTTCTACTGAATCAGCAT 0.443 FAM90A1 55138 broad.mit.edu 37 12 8375189 8375189 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:8375189G>A uc001qui.2 - 7 1183 c.624C>T c.(622-624)GCC>GCT p.A208A FAM90A1_uc001quh.2_Silent_p.A208A NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 208 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) GAGGGATGTCGGCCGCAGCCC 0.617 A2M 2 broad.mit.edu 37 12 9251308 9251308 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:9251308G>A uc001qvk.1 - 15 1859 c.1746C>T c.(1744-1746)CAC>CAT p.H582H A2M_uc009zgk.1_Silent_p.H432H NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 582 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCAGGTGGGCGTGTGAGGCTG 0.547 KLRD1 3824 broad.mit.edu 37 12 10460612 10460612 + Translation_Start_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:10460612C>T uc001qxw.3 + 2 133 c.-64C>T c.(-66--62)AACGC>AATGC KLRD1_uc001qxx.3_Translation_Start_Site|KLRD1_uc001qxy.3_Translation_Start_Site|KLRD1_uc009zhh.2_Translation_Start_Site|KLRD1_uc009zhi.2_Translation_Start_Site|KLRD1_uc001qxz.3_Translation_Start_Site NM_001114396 NP_001107868 Q13241 KLRD1_HUMAN killer cell lectin-like receptor subfamily D, cell surface receptor linked signaling pathway|regulation of immune response integral to membrane|plasma membrane sugar binding|transmembrane receptor activity 0 AACAATTCAACGCTGTTCTTT 0.333 PRB2 653247 broad.mit.edu 37 12 11546301 11546301 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:11546301A>G uc010shk.1 - 3 746 c.711T>C c.(709-711)TCT>TCC p.S237S NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTCCTGGAGGAGATCGGGCAC 0.612 DUSP16 80824 broad.mit.edu 37 12 12630318 12630318 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:12630318G>A uc001rao.1 - 7 2079 c.1447C>T c.(1447-1449)CGA>TGA p.R483* DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Nonsense_Mutation_p.R335* NM_030640 NP_085143 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 483 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) GAATGCAATCGCTTGCTCTGG 0.572 GRIN2B 2904 broad.mit.edu 37 12 13716856 13716856 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:13716856C>T uc001rbt.2 - 13 3495 c.3316G>A c.(3316-3318)GAG>AAG p.E1106K NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1106 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1106K(1) central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGGCCAGCTCGATCTCGTCA 0.617 PLBD1 79887 broad.mit.edu 37 12 14659149 14659149 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:14659149G>A uc001rcc.1 - 10 1587 c.1426C>T c.(1426-1428)CGT>TGT p.R476C NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 476 lipid catabolic process extracellular region hydrolase activity 0 AGGTCCTCACGGCAGCAGATG 0.443 ABCC9 10060 broad.mit.edu 37 12 21968783 21968783 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:21968783T>C uc001rfi.1 - 32 3957 c.3937A>G c.(3937-3939)AAG>GAG p.K1313E ABCC9_uc001rfh.2_Missense_Mutation_p.K1313E|ABCC9_uc001rfj.1_Missense_Mutation_p.K1277E NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1313 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) TCATGTATCTTGATCTCCCCT 0.408 ABCC9 10060 broad.mit.edu 37 12 22068751 22068751 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:22068751G>T uc001rfi.1 - 5 687 c.667C>A c.(667-669)CTG>ATG p.L223M ABCC9_uc001rfh.2_Missense_Mutation_p.L223M|ABCC9_uc001rfj.1_Missense_Mutation_p.L223M NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 223 Cytoplasmic (Potential). 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) GCTTTTGACAGCAAATTCACA 0.393 ITPR2 3709 broad.mit.edu 37 12 26580933 26580933 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:26580933A>G uc001rhg.2 - 49 7275 c.6858T>C c.(6856-6858)GGT>GGC p.G2286G ITPR2_uc009zjg.1_Silent_p.G437G NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2286 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) ACGGCCGAATACCCACAGGCT 0.398 ALG10 84920 broad.mit.edu 37 12 34177054 34177054 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:34177054T>C uc001rlm.2 + 2 648 c.329T>C c.(328-330)TTA>TCA p.L110S NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 110 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) AACTTCTATTTACTATATTTG 0.363 GXYLT1 283464 broad.mit.edu 37 12 42491723 42491723 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:42491723A>G uc001rms.3 - 6 1202 c.977T>C c.(976-978)TTT>TCT p.F326S GXYLT1_uc001rmt.3_Missense_Mutation_p.F295S NM_173601 NP_775872 Q4G148 GXLT1_HUMAN glycosyltransferase 8 domain containing 3 326 Lumenal (Potential). O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 TGGATTATGAAAAAACACGAT 0.299 HDAC7 51564 broad.mit.edu 37 12 48189994 48189994 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:48189994G>A uc009zkv.1 - 6 889 c.674C>T c.(673-675)TCG>TTG p.S225L HDAC7_uc001rqe.2_5'Flank|HDAC7_uc010slo.1_Missense_Mutation_p.S264L|HDAC7_uc001rqj.3_Missense_Mutation_p.S264L|HDAC7_uc001rqk.3_Missense_Mutation_p.S247L Q8WUI4 HDAC7_HUMAN Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system. 225 Transcription repression 1 (By similarity).|Transcription repression 2 (By similarity). Missing (in Ref. 1; AAF63491). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) CCTTACCTCCGAGCCCAGGAT 0.662 COL2A1 1280 broad.mit.edu 37 12 48391985 48391985 + Splice_Site SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:48391985C>A uc001rqu.2 - 4 491 c.310_splice c.e4-1 p.G104_splice COL2A1_uc001rqv.2_Splice_Site_p.G35_splice NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTTTCTGTCCCTGAAACATGA 0.478 ADCY6 112 broad.mit.edu 37 12 49177093 49177093 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:49177093C>T uc001rsh.3 - 1 785 c.125G>A c.(124-126)CGC>CAC p.R42H ADCY6_uc001rsj.3_Missense_Mutation_p.R42H|ADCY6_uc001rsi.3_Missense_Mutation_p.R42H NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 42 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 ATP binding|metal ion binding 0 GCTCATATAGCGGGGCGTGCA 0.682 DDX23 9416 broad.mit.edu 37 12 49230000 49230000 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:49230000C>T uc001rsm.2 - 11 1377 c.1286G>A c.(1285-1287)CGT>CAT p.R429H NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 429 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 AATGATGTCACGATTCTGTAG 0.507 MLL2 8085 broad.mit.edu 37 12 49440558 49440559 + Missense_Mutation DNP GC GC AT TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:49440558_49440559GC>AT uc001rta.3 - 15 4251_4252 c.4251_4252GC>AT c.(4249-4254)ATGCTG>ATATTG p.M1417I NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1417 Cys-rich.|PHD-type 3. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCCTTGAGCAGCATCACCTTGG 0.46 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) PRPH 5630 broad.mit.edu 37 12 49691041 49691041 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:49691041C>T uc001rtu.2 + 5 1056 c.981C>T c.(979-981)GAC>GAT p.D327D NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 327 Coil 2.|Rod. structural molecule activity 0 GCGAGGTGGACGGGCTGCGCG 0.652 OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KRT84 3890 broad.mit.edu 37 12 52774338 52774338 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:52774338C>T uc001sah.1 - 7 1281 c.1233G>A c.(1231-1233)GAG>GAA p.E411E NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 411 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCTGCTCGGCCTCGGCCACTG 0.642 OREG0021848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KRT77 374454 broad.mit.edu 37 12 53097189 53097189 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:53097189C>T uc001saw.2 - 1 59 c.30G>A c.(28-30)GCG>GCA p.A10A KRT77_uc009zmi.2_5'UTR NM_175078 NP_778253 Q7Z794 K2C1B_HUMAN keratin 77 10 Head. keratin filament structural molecule activity ovary(1) 1 TTGAACTAAACGCGGACTGAG 0.542 HOXC8 3224 broad.mit.edu 37 12 54403113 54403113 + Silent SNP C C T rs142847294 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:54403113C>T uc001ser.2 + 1 224 c.45C>T c.(43-45)GCC>GCT p.A15A NM_022658 NP_073149 P31273 HXC8_HUMAN homeobox C8 15 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 AATACAAAGCCGGCGAGTCCC 0.662 SMUG1 23583 broad.mit.edu 37 12 54577528 54577528 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:54577528C>T uc001sff.1 - 3 326 c.197G>A c.(196-198)CGC>CAC p.R66H SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_Missense_Mutation_p.R66H|SMUG1_uc001sfg.1_Missense_Mutation_p.R66H|SMUG1_uc009znf.1_Missense_Mutation_p.R66H|SMUG1_uc001sfb.3_Missense_Mutation_p.R66H|SMUG1_uc001sfc.3_Missense_Mutation_p.R66H|SMUG1_uc001sfd.3_Missense_Mutation_p.R66H NM_014311 NP_055126 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional 66 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity 0 CACGTAGTTGCGATGTGGCTC 0.572 BER_DNA_glycosylases ITGA5 3678 broad.mit.edu 37 12 54812875 54812875 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:54812875T>C uc001sga.2 - 1 176 c.108A>G c.(106-108)CCA>CCG p.P36P ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 36 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 CGACCCTGGGTGgcggcggca 0.592 DCD 117159 broad.mit.edu 37 12 55039032 55039032 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:55039032C>T uc001sgj.2 - 4 276 c.214G>A c.(214-216)GGA>AGA p.G72R DCD_uc009znt.2_Missense_Mutation_p.G72R|DCD_uc009znu.2_RNA NM_053283 NP_444513 P81605 DCD_HUMAN dermcidin preproprotein 72 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding ovary(1) 1 Myeloproliferative disorder(1001;0.0255) TTTTTTGCTCCGTCTAGGCCT 0.483 SUOX 6821 broad.mit.edu 37 12 56397746 56397746 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:56397746G>A uc001six.2 + 6 899 c.573G>A c.(571-573)CAG>CAA p.Q191Q SUOX_uc001siy.2_Silent_p.Q191Q|SUOX_uc001siz.2_Silent_p.Q191Q|SUOX_uc001sja.2_Silent_p.Q191Q NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 191 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) TCAACAGCCAGCGGCCCTTTA 0.557 MIP 4284 broad.mit.edu 37 12 56847487 56847487 + Missense_Mutation SNP G G A rs121917867 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:56847487G>A uc001slh.2 - 2 445 c.413C>T c.(412-414)ACG>ATG p.T138M NM_012064 NP_036196 P30301 MIP_HUMAN major intrinsic protein of lens fiber 138 Helical; (By similarity). T -> R (in ADC; progressive polymorphic and lamellar cataract; loss of activity). response to stimulus|visual perception gap junction|integral to plasma membrane structural constituent of eye lens skin(1) 1 GAACTGGAGCGTCAGGAAGAT 0.612 LGR5 8549 broad.mit.edu 37 12 71978276 71978276 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:71978276A>G uc001swl.2 + 18 2534 c.2486A>G c.(2485-2487)GAG>GGG p.E829G LGR5_uc001swm.2_Missense_Mutation_p.E805G|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 829 Cytoplasmic (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CACTTTAAGGAGGATCTGGTG 0.428 LRRIQ1 84125 broad.mit.edu 37 12 85554467 85554467 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:85554467G>A uc001tac.2 + 24 4908 c.4797G>A c.(4795-4797)CAG>CAA p.Q1599Q NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1599 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AGATGGTACAGCCCAGAAGAG 0.299 C12orf50 160419 broad.mit.edu 37 12 88390245 88390245 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:88390245A>G uc001tam.1 - 6 555 c.387T>C c.(385-387)CAT>CAC p.H129H C12orf50_uc001tan.2_Silent_p.H183H NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 129 skin(2)|ovary(1) 3 CTGGAGGAGTATGAAATCTGT 0.318 ATP2B1 490 broad.mit.edu 37 12 89992959 89992959 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:89992959C>A uc001tbh.2 - 19 3467 c.3286G>T c.(3286-3288)GCT>TCT p.A1096S ATP2B1_uc001tbg.2_Missense_Mutation_p.A1096S|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Missense_Mutation_p.A730S NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 1096 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TCCCTTTCAGCGTGATCAATC 0.458 EPYC 1833 broad.mit.edu 37 12 91365683 91365683 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:91365683C>T uc001tbk.2 - 5 689 c.596G>A c.(595-597)CGT>CAT p.R199H NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 199 LRR 3. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 TTTGTTGTCACGCAGGACAAG 0.383 ELK3 2004 broad.mit.edu 37 12 96640801 96640801 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:96640801G>A uc001teo.1 + 3 570 c.291G>A c.(289-291)GCG>GCA p.A97A NM_005230 NP_005221 P41970 ELK3_HUMAN ELK3 protein 97 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 all_cancers(2;0.00173) ATCCTCACGCGGTGGAGATCA 0.562 C12orf42 374470 broad.mit.edu 37 12 103696165 103696165 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:103696165C>T uc001tjt.2 - 6 892 c.804G>A c.(802-804)GCG>GCA p.A268A C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Silent_p.A268A|C12orf42_uc001tju.2_Silent_p.A173A NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 268 ovary(1)|central_nervous_system(1) 2 GATTTCCGGACGCGCCCAGGA 0.667 APPL2 55198 broad.mit.edu 37 12 105600917 105600917 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:105600917G>T uc001tlf.1 - 8 761 c.543C>A c.(541-543)TAC>TAA p.Y181* APPL2_uc010swt.1_Nonsense_Mutation_p.Y138*|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Nonsense_Mutation_p.Y187*|APPL2_uc009zuq.2_Nonsense_Mutation_p.Y138* NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 181 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 GGGCACAGTAGTACTGAAGGG 0.557 WSCD2 9671 broad.mit.edu 37 12 108641980 108641980 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:108641980C>T uc001tms.2 + 9 2302 c.1558C>T c.(1558-1560)CGC>TGC p.R520C WSCD2_uc001tmt.2_Missense_Mutation_p.R520C|WSCD2_uc001tmu.2_Missense_Mutation_p.R288C NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 520 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CAACTTCAAGCGCTCAGGGCT 0.602 KCTD10 83892 broad.mit.edu 37 12 109889606 109889606 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:109889606C>T uc001toi.1 - 7 824 c.736G>A c.(736-738)GAA>AAA p.E246K KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E220K|KCTD10_uc001toj.1_Missense_Mutation_p.E255K|KCTD10_uc001tok.1_Missense_Mutation_p.E65K NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 246 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 ATCCGGGCTTCGGGAAACTCC 0.592 MVK 4598 broad.mit.edu 37 12 110017685 110017685 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:110017685C>A uc001toy.3 + 4 489 c.305C>A c.(304-306)GCT>GAT p.A102D MVK_uc009zvk.2_Missense_Mutation_p.A102D|MVK_uc010sxr.1_Missense_Mutation_p.A102D|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA NM_001114185 NP_001107657 Q03426 KIME_HUMAN mevalonate kinase 102 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity 0 GACGACTGTGCTGTCACCGAG 0.552 NAA25 80018 broad.mit.edu 37 12 112481496 112481496 + Missense_Mutation SNP C C T rs116838734 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:112481496C>T uc001ttm.2 - 18 2203 c.2183G>A c.(2182-2184)CGT>CAT p.R728H NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.R700H|NAA25_uc009zwa.1_Missense_Mutation_p.R728H NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 728 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 AAGGAGCAAACGAAGAATATC 0.468 C12orf51 283450 broad.mit.edu 37 12 112717172 112717172 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:112717172A>G uc009zwc.2 - 3 383 c.365T>C c.(364-366)CTG>CCG p.L122P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 TTTTAGAGGCAGCCCACAGCT 0.443 DDX54 79039 broad.mit.edu 37 12 113603710 113603710 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:113603710G>A uc001tup.2 - 13 1570 c.1542C>T c.(1540-1542)AAC>AAT p.N514N DDX54_uc001tuq.3_Silent_p.N514N NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 514 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 GCTGCTGGGCGTTATCAGCAA 0.667 LHX5 64211 broad.mit.edu 37 12 113906065 113906065 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:113906065C>A uc001tvj.1 - 3 1116 c.542G>T c.(541-543)CGC>CTC p.R181L NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 181 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCGGGGGCCGCGCCGCTTGGT 0.672 TBX5 6910 broad.mit.edu 37 12 114841585 114841585 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:114841585G>A uc001tvo.2 - 2 614 c.119C>T c.(118-120)TCG>TTG p.S40L TBX5_uc001tvp.2_Missense_Mutation_p.S40L|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.S40L NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 40 GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592). cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) CTGCGGGGACGACGGGGACTT 0.647 RNF34 80196 broad.mit.edu 37 12 121854119 121854119 + Missense_Mutation SNP C C T rs61760895 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:121854119C>T uc001ual.1 + 2 278 c.164C>T c.(163-165)ACG>ATG p.T55M RNF34_uc010szw.1_Missense_Mutation_p.T56M|RNF34_uc001uak.1_Missense_Mutation_p.T56M|RNF34_uc001uam.1_Missense_Mutation_p.T55M NM_025126 NP_079402 Q969K3 RNF34_HUMAN ring finger protein 34 isoform 2 55 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) CCAGCAGCTACGGAAGGGCCC 0.483 LRRC43 254050 broad.mit.edu 37 12 122677438 122677438 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:122677438G>A uc009zxm.2 + 7 1261 c.1236G>A c.(1234-1236)TCG>TCA p.S412S LRRC43_uc001ubw.3_Silent_p.S227S|LRRC43_uc009zxn.2_Silent_p.S173S NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 412 Glu-rich. 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CAGGAGAGTCGGAGCTGTCTG 0.562 B3GNT4 79369 broad.mit.edu 37 12 122691022 122691022 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:122691022G>A uc001ubx.2 + 3 442 c.224G>A c.(223-225)CGG>CAG p.R75Q B3GNT4_uc001uby.2_Missense_Mutation_p.R50Q NM_030765 NP_110392 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal 75 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) CGTCACAGCCGGTGTCCACCC 0.617 GPR109A 338442 broad.mit.edu 37 12 123187448 123187448 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:123187448C>T uc001ucx.1 - 1 457 c.383G>A c.(382-384)CGG>CAG p.R128Q GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 128 Cytoplasmic (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) ATGGACCACCCGGAAATACCT 0.567 DNAH10 196385 broad.mit.edu 37 12 124343781 124343781 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:124343781G>A uc001uft.3 + 37 6386 c.6361G>A c.(6361-6363)GTC>ATC p.V2121I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2121 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGGCAAGTCCGTCGTCATTAA 0.562 AACS 65985 broad.mit.edu 37 12 125591695 125591695 + Missense_Mutation SNP G G T rs139116253 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:125591695G>T uc001uhc.2 + 8 1002 c.796G>T c.(796-798)GGC>TGC p.G266C AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.G266C|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR NM_023928 NP_076417 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 266 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding ovary(1)|liver(1)|central_nervous_system(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) TCTTGCCACCGGCACCAGTGA 0.607 TMEM132D 121256 broad.mit.edu 37 12 129566363 129566363 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:129566363C>T uc009zyl.1 - 7 2192 c.1864G>A c.(1864-1866)GCC>ACC p.A622T TMEM132D_uc001uia.2_Missense_Mutation_p.A160T NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 622 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGCAGCTTGGCGATCCTGGGC 0.542 SFRS8 6433 broad.mit.edu 37 12 132241151 132241151 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:132241151C>T uc001uja.1 + 11 1822 c.1682C>T c.(1681-1683)TCG>TTG p.S561L SFRS8_uc010tbn.1_Missense_Mutation_p.S561L|SFRS8_uc001ujb.1_Missense_Mutation_p.S354L NM_004592 NP_004583 Q12872 SFSWA_HUMAN splicing factor, arginine/serine-rich 8 561 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05) AAGGAGGCATCGTCCAGTAAG 0.607 XPO4 64328 broad.mit.edu 37 13 21429828 21429828 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:21429828T>C uc001unq.3 - 4 430 c.394A>G c.(394-396)ATT>GTT p.I132V XPO4_uc010tcr.1_Missense_Mutation_p.I58V NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 132 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TTGCAGTCAATTGATTTATCT 0.318 RNF17 56163 broad.mit.edu 37 13 25367209 25367209 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:25367209A>G uc001upr.2 + 10 1006 c.965A>G c.(964-966)CAG>CGG p.Q322R RNF17_uc010tdd.1_Missense_Mutation_p.Q181R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q322R|RNF17_uc001ups.2_Missense_Mutation_p.Q261R|RNF17_uc001upq.1_Missense_Mutation_p.Q322R NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 322 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.Q322Q(1) ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAAATTAGACAGAATGTTCAA 0.308 NUPL1 9818 broad.mit.edu 37 13 25914139 25914139 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:25914139G>T uc001uqi.2 + 16 1913 c.1667G>T c.(1666-1668)AGC>ATC p.S556I NUPL1_uc001uqj.2_Missense_Mutation_p.S544I NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 556 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) TTTAACTTCAGCAATCCTGGC 0.408 FLT1 2321 broad.mit.edu 37 13 28913392 28913392 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:28913392G>T uc001usb.3 - 17 2686 c.2401C>A c.(2401-2403)CCA>ACA p.P801T FLT1_uc001usa.3_Missense_Mutation_p.P19T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 801 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACTTCATCTGGGTCCATTATA 0.408 FRY 10129 broad.mit.edu 37 13 32747633 32747633 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:32747633G>A uc001utx.2 + 19 2777 c.2281G>A c.(2281-2283)GTT>ATT p.V761I FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CAAACTGTCCGTTTTAATACT 0.463 NBEA 26960 broad.mit.edu 37 13 35685067 35685067 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:35685067T>C uc001uvb.2 + 14 2160 c.1954T>C c.(1954-1956)TGG>CGG p.W652R NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 652 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATATTACTACTGGGTTATTAA 0.363 DNAJC15 29103 broad.mit.edu 37 13 43659911 43659911 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:43659911G>A uc001uyy.2 + 5 720 c.319G>A c.(319-321)GCT>ACT p.A107T NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 107 J. integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) CAGCCCATCTGCTGGCAAGGC 0.308 SERP2 387923 broad.mit.edu 37 13 44948177 44948177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:44948177C>T uc001uzj.2 + 1 200 c.16C>T c.(16-18)CGG>TGG p.R6W SERP2_uc001uzk.2_RNA NM_001010897 NP_001010897 Q8N6R1 SERP2_HUMAN stress-associated endoplasmic reticulum protein 6 Cytoplasmic (Potential). protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane 0 all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123) GGCCAAACAGCGGATCCGGAT 0.637 SPERT 220082 broad.mit.edu 37 13 46287535 46287535 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:46287535C>T uc001van.1 + 3 455 c.375C>T c.(373-375)GAC>GAT p.D125D SPERT_uc001vao.2_Silent_p.D89D NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 125 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) AGCTCAGCGACGAGATGTTCG 0.632 SIAH3 283514 broad.mit.edu 37 13 46425671 46425671 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:46425671C>T uc001vap.2 - 1 176 c.94G>A c.(94-96)GGG>AGG p.G32R NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 32 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 ACAAGTTGCCCGGCAGCGGAG 0.498 PHF11 51131 broad.mit.edu 37 13 50097316 50097316 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:50097316C>T uc001vdb.2 + 7 913 c.576C>T c.(574-576)CCC>CCT p.P192P PHF11_uc001vdc.2_Silent_p.P153P|PHF11_uc001vdd.2_RNA NM_001040443 NP_001035533 Q9UIL8 PHF11_HUMAN PHD finger protein 11 isoform a 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 0 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) CCTAGCCACCCGAAACAATGA 0.358 LMO7 4008 broad.mit.edu 37 13 76407186 76407186 + Splice_Site SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:76407186G>T uc001vjv.2 + 13 3011 c.2251_splice c.e13-1 p.D751_splice LMO7_uc010thv.1_Splice_Site_p.D702_splice|LMO7_uc001vjt.1_Splice_Site_p.D650_splice|LMO7_uc010thw.1_Splice_Site_p.D601_splice|LMO7_uc001vjw.1_Splice_Site_p.D657_splice NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 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) TTTGTTTTCAGGATCAGTTCA 0.463 MYCBP2 23077 broad.mit.edu 37 13 77672621 77672621 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:77672621C>A uc001vkf.2 - 57 8645 c.8554G>T c.(8554-8556)GAA>TAA p.E2852* MYCBP2_uc010aev.2_Nonsense_Mutation_p.E2256*|MYCBP2_uc001vkg.1_Nonsense_Mutation_p.E375*|MYCBP2_uc010aew.2_Nonsense_Mutation_p.E238* NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2852 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTCAAAGGTTCTGTGAGGGGC 0.463 OXGR1 27199 broad.mit.edu 37 13 97639036 97639036 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:97639036C>T uc001vmx.1 - 4 1222 c.978G>A c.(976-978)GAG>GAA p.E326E OXGR1_uc010afr.1_Silent_p.E326E NM_080818 NP_543008 Q96P68 OXGR1_HUMAN oxoglutarate (alpha-ketoglutarate) receptor 1 326 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1)|skin(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.186) TCTTTGCTTGCTCAAGGTTCC 0.388 ZIC2 7546 broad.mit.edu 37 13 100634965 100634965 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:100634965C>A uc001von.2 + 1 647 c.647C>A c.(646-648)CCC>CAC p.P216H NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 216 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGTACGGCCCCATGAATATG 0.557 TPP2 7174 broad.mit.edu 37 13 103328732 103328732 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:103328732A>C uc001vpi.3 + 28 3730 c.3627A>C c.(3625-3627)AAA>AAC p.K1209N NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 1209 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGAAGAAAAACCAACAAAAG 0.294 ING1 3621 broad.mit.edu 37 13 111371952 111371952 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:111371952C>T uc001vri.2 + 2 1374 c.942C>T c.(940-942)GGC>GGT p.G314G ING1_uc001vrf.2_Silent_p.G127G|ING1_uc001vrg.2_Silent_p.G102G|ING1_uc001vrh.2_Silent_p.G171G NM_005537 NP_005528 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 isoform D 314 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding ovary(1) 1 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) ACGACGACGGCGCCTCGGGCA 0.657 ATP11A 23250 broad.mit.edu 37 13 113508592 113508592 + Splice_Site SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:113508592G>T uc001vsi.3 + 19 2080 c.1992_splice c.e19-1 p.R664_splice ATP11A_uc001vsj.3_Splice_Site_p.R664_splice|ATP11A_uc001vsm.1_Splice_Site_p.R540_splice|ATP11A_uc010ago.2_Splice_Site NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCCTCCCTCAGGCTGCAGGAG 0.532 ATP4B 496 broad.mit.edu 37 13 114304805 114304805 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:114304805G>A uc001vtz.2 - 6 672 c.630C>T c.(628-630)CTC>CTT p.L210L NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 210 Extracellular (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) GCGGCTGGCCGAGCTCGCGGG 0.612 RPGRIP1 57096 broad.mit.edu 37 14 21811292 21811292 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:21811292A>G uc001wag.2 + 21 3437 c.3437A>G c.(3436-3438)TAC>TGC p.Y1146C RPGRIP1_uc001wah.2_Missense_Mutation_p.Y788C|RPGRIP1_uc001wai.2_Missense_Mutation_p.Y472C|RPGRIP1_uc001wak.2_Missense_Mutation_p.Y621C|RPGRIP1_uc010aim.2_Missense_Mutation_p.Y529C|RPGRIP1_uc001wal.2_Missense_Mutation_p.Y505C|RPGRIP1_uc001wam.2_Missense_Mutation_p.Y463C NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 1146 Interaction with RPGR. response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TATGTGGAGTACAAATTCTAC 0.473 LRP10 26020 broad.mit.edu 37 14 23342624 23342624 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:23342624C>A uc001whd.2 + 3 737 c.184C>A c.(184-186)CTG>ATG p.L62M LRP10_uc001whe.2_5'Flank NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 62 CUB 1.|Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CTGGCTCATCCTGGGCAGCAA 0.592 PRMT5 10419 broad.mit.edu 37 14 23393383 23393383 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:23393383G>A uc001whm.1 - 12 1300 c.1209C>T c.(1207-1209)AAC>AAT p.N403N PRMT5_uc001whl.1_Silent_p.N386N|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Silent_p.N297N|PRMT5_uc010tng.1_Silent_p.N342N|PRMT5_uc010tnh.1_Silent_p.N359N|PRMT5_uc001whn.1_Silent_p.N232N NM_006109 NP_006100 O14744 ANM5_HUMAN protein arginine methyltransferase 5 isoform a 403 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding ovary(1) 1 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) CAAACTGCCAGTTCTCTAGCC 0.473 MYH6 4624 broad.mit.edu 37 14 23853688 23853688 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:23853688C>A uc001wjv.2 - 36 5595 c.5528G>T c.(5527-5529)AGG>ATG p.R1843M NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1843 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCGCTCTTCCTCATGCCCTT 0.642 MYH6 4624 broad.mit.edu 37 14 23862141 23862141 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:23862141C>T uc001wjv.2 - 24 3298 c.3231G>A c.(3229-3231)CAG>CAA p.Q1077Q NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1077 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TTTCTTCCAGCTGCAGTTTAT 0.557 TM9SF1 10548 broad.mit.edu 37 14 24664130 24664130 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:24664130G>A uc001wnb.1 - 2 444 c.96C>T c.(94-96)GGC>GGT p.G32G TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.G267G|TM9SF1_uc001wnc.2_Silent_p.G32G|TM9SF1_uc001wnd.2_5'Flank NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 32 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) AGTGTGTCACGCCTTCCACCC 0.537 ADCY4 196883 broad.mit.edu 37 14 24795334 24795334 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:24795334T>C uc001wov.2 - 12 1612 c.1606A>G c.(1606-1608)ACC>GCC p.T536A ADCY4_uc001wow.2_Missense_Mutation_p.T536A|ADCY4_uc010toh.1_Missense_Mutation_p.T222A|ADCY4_uc001wox.2_Missense_Mutation_p.T536A|ADCY4_uc001woy.2_Missense_Mutation_p.T536A NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 536 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|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GCATCCCCGGTGTCCAGTTCA 0.597 NFATC4 4776 broad.mit.edu 37 14 24846034 24846034 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:24846034G>A uc001wpc.2 + 9 2912 c.2591G>A c.(2590-2592)AGC>AAC p.S864N NFATC4_uc010tok.1_Missense_Mutation_p.S927N|NFATC4_uc010tol.1_Missense_Mutation_p.S927N|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.S877N|NFATC4_uc010ton.1_Missense_Mutation_p.S877N|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.S896N|NFATC4_uc010top.1_Missense_Mutation_p.S896N|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.S794N|NFATC4_uc010tot.1_Missense_Mutation_p.S852N|NFATC4_uc010tou.1_Missense_Mutation_p.S794N|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.S852N|NFATC4_uc010tox.1_Missense_Mutation_p.S794N|NFATC4_uc001wpd.2_Missense_Mutation_p.S399N|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.S399N|NFATC4_uc010tpa.1_Missense_Mutation_p.S152N|NFATC4_uc010tpb.1_Missense_Mutation_p.S152N NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 864 cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GGTGGCTACAGCAGCGGCTTC 0.602 NID2 22795 broad.mit.edu 37 14 52496277 52496277 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:52496277G>A uc001wzo.2 - 10 2623 c.2389C>T c.(2389-2391)CGG>TGG p.R797W NID2_uc010tqs.1_Missense_Mutation_p.R797W|NID2_uc010tqt.1_Missense_Mutation_p.R797W|NID2_uc001wzp.2_Missense_Mutation_p.R797W NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 797 EGF-like 2. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) ACACAGTTCCGTCCATCTCCC 0.522 RHOJ 57381 broad.mit.edu 37 14 63749933 63749933 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:63749933C>T uc001xgb.1 + 4 940 c.497C>T c.(496-498)GCG>GTG p.A166V NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 166 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CTCGCAAAAGCGGTACAGTCA 0.423 ACTN1 87 broad.mit.edu 37 14 69341670 69341670 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:69341670G>A uc001xkl.2 - 21 2895 c.2585C>T c.(2584-2586)GCG>GTG p.A862V ACTN1_uc001xkk.2_Missense_Mutation_p.A458V|ACTN1_uc010ttb.1_Missense_Mutation_p.A792V|ACTN1_uc001xkm.2_Missense_Mutation_p.A884V|ACTN1_uc001xkn.2_Missense_Mutation_p.A857V NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 862 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGCCATCCGCGCGATGCAGTA 0.632 ACTN1 87 broad.mit.edu 37 14 69358971 69358971 + Silent SNP C C T rs139710798 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:69358971C>T uc001xkl.2 - 10 1195 c.885G>A c.(883-885)CCG>CCA p.P295P ACTN1_uc010ttb.1_Silent_p.P230P|ACTN1_uc001xkm.2_Silent_p.P295P|ACTN1_uc001xkn.2_Silent_p.P295P|ACTN1_uc001xko.1_Silent_p.P230P|ACTN1_uc010ttd.1_Silent_p.P274P NM_001102 NP_001093 P12814 ACTN1_HUMAN actinin, alpha 1 isoform b 295 Spectrin 1.|Interaction with DDN. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TCTCCAGCCACGGGATTGTGC 0.662 GALNTL1 57452 broad.mit.edu 37 14 69806298 69806298 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:69806298T>C uc010aqu.1 + 11 1242 c.1149T>C c.(1147-1149)TAT>TAC p.Y383Y GALNTL1_uc001xla.1_Silent_p.Y383Y|GALNTL1_uc001xlb.1_Silent_p.Y383Y NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 383 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) AATACTACTATGAGGCCCGGC 0.537 TTC9 23508 broad.mit.edu 37 14 71109099 71109099 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:71109099C>T uc001xmi.2 + 1 596 c.253C>T c.(253-255)CTG>TTG p.L85L uc001xmh.1_5'Flank NM_015351 NP_056166 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 85 TPR 1. binding 0 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) CCGGGCGTTGCTGGAGCTGAA 0.677 SIPA1L1 26037 broad.mit.edu 37 14 72128161 72128161 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:72128161G>A uc001xms.2 + 7 2580 c.2232G>A c.(2230-2232)CCG>CCA p.P744P SIPA1L1_uc001xmt.2_Silent_p.P744P|SIPA1L1_uc001xmu.2_Silent_p.P744P|SIPA1L1_uc001xmv.2_Silent_p.P744P|SIPA1L1_uc010ttm.1_Silent_p.P219P NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 744 Rap-GAP. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) TGCACAATCCGTGCTCTGACA 0.507 HEATR4 399671 broad.mit.edu 37 14 73989730 73989730 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:73989730C>T uc010tub.1 - 3 449 c.127G>A c.(127-129)GTC>ATC p.V43I HEATR4_uc010tua.1_5'UTR NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) ACACTGGAGACAGAGGCACAC 0.488 C14orf43 91748 broad.mit.edu 37 14 74196362 74196362 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:74196362A>C uc001xot.2 - 4 2859 c.2076T>G c.(2074-2076)CAT>CAG p.H692Q C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.H692Q|C14orf43_uc010tud.1_Missense_Mutation_p.H692Q|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GCAGCGTGCGATGGGCACTCT 0.647 TGFB3 7043 broad.mit.edu 37 14 76427265 76427265 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:76427265C>T uc001xsc.2 - 6 1936 c.1080_splice c.e6+1 p.T360_splice NM_003239 NP_003230 P10600 TGFB3_HUMAN transforming growth factor, beta 3 precursor cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway extracellular matrix|platelet alpha granule lumen growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0169) CTGCTCCATACCGTGCTGTGG 0.527 C14orf174 161394 broad.mit.edu 37 14 77844529 77844529 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:77844529A>G uc001xtq.1 + 1 768 c.768A>G c.(766-768)CCA>CCG p.P256P TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 256 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GGACAGAGCCACCCGAGCAGG 0.493 NRXN3 9369 broad.mit.edu 37 14 79181293 79181293 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:79181293C>T uc001xun.2 + 5 1227 c.736C>T c.(736-738)CGC>TGC p.R246C NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R380C NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 619 Extracellular (Potential).|Laminin G-like 3. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CATTGATGGGCGCAGCAAGAA 0.577 PTPN21 11099 broad.mit.edu 37 14 88945851 88945851 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:88945851C>T uc001xwv.3 - 13 2255 c.1924G>A c.(1924-1926)GGG>AGG p.G642R PTPN21_uc010twc.1_Missense_Mutation_p.G438R NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 642 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TGGCTGAGCCCGGCCACCTCG 0.741 KCNK13 56659 broad.mit.edu 37 14 90528604 90528604 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:90528604C>T uc001xye.1 + 1 497 c.55C>T c.(55-57)CGC>TGC p.R19C NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 19 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GGACAACGCGCGCTTTCTGCT 0.756 CPSF2 53981 broad.mit.edu 37 14 92601758 92601758 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:92601758A>G uc001yah.1 + 6 700 c.463A>G c.(463-465)ATA>GTA p.I155V NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 155 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TGGTCATATGATAGGTGGAAC 0.383 DICER1 23405 broad.mit.edu 37 14 95562465 95562465 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:95562465C>T uc001ydw.2 - 24 4974 c.4792G>A c.(4792-4794)GAT>AAT p.D1598N DICER1_uc010avh.1_Missense_Mutation_p.D496N|DICER1_uc001ydv.2_Missense_Mutation_p.D1588N|DICER1_uc001ydx.2_Missense_Mutation_p.D1598N|DICER1_uc001ydy.1_Missense_Mutation_p.D450N NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1598 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TTTTCCCGATCAGTCCTTTTA 0.542 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ EIF5 1983 broad.mit.edu 37 14 103807325 103807325 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:103807325T>C uc001ymq.2 + 12 1754 c.1232T>C c.(1231-1233)GTA>GCA p.V411A EIF5_uc001ymr.2_Missense_Mutation_p.V411A|EIF5_uc001yms.2_Missense_Mutation_p.V411A|EIF5_uc001ymt.2_Missense_Mutation_p.V411A|EIF5_uc001ymu.2_Missense_Mutation_p.V411A NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 411 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) GCTGCCAGTGTACCGAAAGTT 0.368 KIAA0284 283638 broad.mit.edu 37 14 105353595 105353595 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:105353595T>C uc010axb.2 + 12 3243 c.3019T>C c.(3019-3021)TCC>CCC p.S1007P INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.S937P|KIAA0284_uc001yps.2_Missense_Mutation_p.S913P|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 1007 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) CCGTGAGCAGTCCTCAGAGAG 0.692 AHNAK2 113146 broad.mit.edu 37 14 105416224 105416224 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:105416224G>A uc010axc.1 - 7 5684 c.5564C>T c.(5563-5565)GCC>GTC p.A1855V AHNAK2_uc001ypx.2_Missense_Mutation_p.A1755V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1855 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTCACTTCGGCCTCCACCTT 0.617 CYFIP1 23191 broad.mit.edu 37 15 22954217 22954217 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:22954217C>T uc001yus.2 + 14 1471 c.1367C>T c.(1366-1368)GCC>GTC p.A456V CYFIP1_uc001yut.2_Missense_Mutation_p.A456V|CYFIP1_uc010aya.1_Missense_Mutation_p.A484V|CYFIP1_uc001yuu.2_5'Flank NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 456 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CAGGTGATCGCCATGATCAAA 0.642 MAGEL2 54551 broad.mit.edu 37 15 23890196 23890196 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:23890196G>A uc001ywj.3 - 1 980 c.885C>T c.(883-885)AGC>AGT p.S295S NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGTGGCCACGGCTGTCCTCTT 0.622 ATP10A 57194 broad.mit.edu 37 15 25958904 25958904 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:25958904C>A uc010ayu.2 - 10 2367 c.2261G>T c.(2260-2262)CGG>CTG p.R754L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 754 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AAGCGGGTGCCGGATCACCAC 0.607 OCA2 4948 broad.mit.edu 37 15 28202854 28202854 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:28202854C>T uc001zbh.3 - 16 1774 c.1664G>A c.(1663-1665)CGC>CAC p.R555H OCA2_uc010ayv.2_Missense_Mutation_p.R531H NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 555 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGCAGTCAGGCGCCAGACGTG 0.632 Oculocutaneous_Albinism TRPM1 4308 broad.mit.edu 37 15 31294572 31294572 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:31294572C>T uc001zfm.2 - 27 4393 c.4265G>A c.(4264-4266)CGC>CAC p.R1422H TRPM1_uc010azy.2_Missense_Mutation_p.R1329H|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1422 Cytoplasmic (Potential). R -> W. cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GGGGAAATAGCGTGTAATTTT 0.438 RYR3 6263 broad.mit.edu 37 15 33954456 33954456 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:33954456C>T uc001zhi.2 + 35 4795 c.4725C>T c.(4723-4725)CGC>CGT p.R1575R RYR3_uc010bar.2_Silent_p.R1575R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1575 4 X approximate repeats.|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) GAAACAGCCGCGTGGCCTACG 0.597 RYR3 6263 broad.mit.edu 37 15 33999249 33999249 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:33999249G>A uc001zhi.2 + 43 6683 c.6613G>A c.(6613-6615)GTG>ATG p.V2205M RYR3_uc010bar.2_Missense_Mutation_p.V2205M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2205 4 X approximate repeats.|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) TGCTGTCTTCGTGAACAGTGA 0.483 RYR3 6263 broad.mit.edu 37 15 34030748 34030748 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:34030748C>T uc001zhi.2 + 50 7683 c.7613C>T c.(7612-7614)ACG>ATG p.T2538M RYR3_uc010bar.2_Missense_Mutation_p.T2538M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2538 4 X approximate repeats.|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) CTGCACCTAACGGAGAAGCTT 0.483 OREG0023032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) THBS1 7057 broad.mit.edu 37 15 39874866 39874866 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:39874866C>T uc001zkh.2 + 3 719 c.540C>T c.(538-540)GAC>GAT p.D180D NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 180 TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTGAGTTGGACGTCCCCATCC 0.562 BAHD1 22893 broad.mit.edu 37 15 40751366 40751366 + Missense_Mutation SNP C C T rs140194867 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:40751366C>T uc001zlu.2 + 2 774 c.703C>T c.(703-705)CGC>TGC p.R235C BAHD1_uc001zlt.2_Missense_Mutation_p.R235C|BAHD1_uc010bbp.1_Missense_Mutation_p.R235C|BAHD1_uc001zlv.2_Missense_Mutation_p.R235C NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 235 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) AGTAGATGGGCGCTCCACTGA 0.627 DLL4 54567 broad.mit.edu 37 15 41228765 41228765 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:41228765T>C uc001zng.1 + 9 1900 c.1580T>C c.(1579-1581)TTC>TCC p.F527S NM_019074 NP_061947 Q9NR61 DLL4_HUMAN delta-like 4 protein precursor 527 Extracellular (Potential). blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(2) 2 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCGCCCAGCTTCCCCTGGGTG 0.667 TGM7 116179 broad.mit.edu 37 15 43579478 43579478 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:43579478C>T uc001zrf.1 - 6 870 c.865G>A c.(865-867)GTA>ATA p.V289I NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 289 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TTTCGCTCACCGGTGCACATA 0.373 MAP1A 4130 broad.mit.edu 37 15 43814151 43814151 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:43814151C>T uc001zrt.2 + 4 947 c.480C>T c.(478-480)TGC>TGT p.C160C NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 160 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGGAGGCCTGCCTCACTCTGC 0.537 MAP1A 4130 broad.mit.edu 37 15 43818213 43818213 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:43818213G>A uc001zrt.2 + 4 5009 c.4542G>A c.(4540-4542)ACG>ACA p.T1514T NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1514 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CGGAGGACACGGTCGCTGAAA 0.468 B2M 567 broad.mit.edu 37 15 45003779 45003779 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:45003779T>A uc001zuc.2 + 1 95 c.35T>A c.(34-36)CTA>CAA p.L12Q B2M_uc010uek.1_Missense_Mutation_p.L12Q|B2M_uc010bdx.1_Missense_Mutation_p.L12Q NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 12 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GTGCTCGCGCTACTCTCTCTT 0.617 SEMA6D 80031 broad.mit.edu 37 15 48052500 48052500 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:48052500G>A uc010bek.2 + 3 470 c.110_splice c.e3-1 p.Y37_splice SEMA6D_uc001zvw.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvx.1_Splice_Site_p.Y37_splice|SEMA6D_uc001zvy.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvz.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwa.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwb.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwc.2_Splice_Site_p.Y37_splice NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 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) TTTACTTGCAGATTCAAGGCA 0.408 FBN1 2200 broad.mit.edu 37 15 48730036 48730036 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:48730036T>C uc001zwx.1 - 51 6570 c.6242A>G c.(6241-6243)CAG>CGG p.Q2081R FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2081 TB 8. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCAGCATTCCTGCTTGGAGTG 0.493 DMXL2 23312 broad.mit.edu 37 15 51828804 51828804 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:51828804C>T uc002abf.2 - 12 2098 c.1873G>A c.(1873-1875)GCA>ACA p.A625T DMXL2_uc010ufy.1_Missense_Mutation_p.A625T|DMXL2_uc010bfa.2_Missense_Mutation_p.A625T NM_015263 NP_056078 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 625 WD 5. cell junction|synaptic vesicle membrane Rab GTPase binding ovary(6)|skin(3) 9 all cancers(107;0.00494) AAAGTGACTGCCCACTGATTT 0.408 UNC13C 440279 broad.mit.edu 37 15 54542453 54542453 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:54542453G>A uc002ack.2 + 6 3259 c.3259G>A c.(3259-3261)GCA>ACA p.A1087T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1087 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACCTTGCAGGCACTGATCTA 0.458 HERC1 8925 broad.mit.edu 37 15 63970208 63970208 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:63970208C>T uc002amp.2 - 37 7054 c.6906G>A c.(6904-6906)GAG>GAA p.E2302E NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2302 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CGGGCCACACCTCTATGCAAA 0.547 SNX22 79856 broad.mit.edu 37 15 64446187 64446187 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:64446187G>A uc002anc.1 + 6 505 c.446G>A c.(445-447)TGC>TAC p.C149Y SNX22_uc002amz.1_Missense_Mutation_p.C121Y|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA NM_024798 NP_079074 Q96L94 SNX22_HUMAN sorting nexin 22 149 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 CCCTATGTTTGCAACCCCTCC 0.612 OREG0023180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BBS4 585 broad.mit.edu 37 15 73007688 73007688 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:73007688T>C uc002avb.2 + 5 320 c.277T>C c.(277-279)TGT>CGT p.C93R BBS4_uc010ukv.1_Missense_Mutation_p.C81R|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.C101R NM_033028 NP_149017 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 93 TPR 1. adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity 0 CTTCCAGACATGTGCAGTTCT 0.433 Bardet-Biedl_syndrome CCDC33 80125 broad.mit.edu 37 15 74623544 74623544 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:74623544G>T uc002axo.2 + 15 2072 c.1678G>T c.(1678-1680)GTG>TTG p.V560L CCDC33_uc002axp.2_Missense_Mutation_p.V382L|CCDC33_uc002axq.2_Missense_Mutation_p.V153L|CCDC33_uc002axr.2_Missense_Mutation_p.V153L NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 763 Potential. protein binding ovary(3)|skin(2) 5 TGCTCTCCAGGTGATCGAGAA 0.652 LMAN1L 79748 broad.mit.edu 37 15 75105256 75105256 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:75105256C>A uc002ayt.1 + 1 63 c.61C>A c.(61-63)CAC>AAC p.H21N LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.H21N NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN lectin, mannose-binding, 1 like precursor 21 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding 0 CCTGGACCCCCACAGCCCTGA 0.607 ODF3L1 161753 broad.mit.edu 37 15 76019508 76019508 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:76019508T>C uc002bax.1 + 4 674 c.452T>C c.(451-453)GTG>GCG p.V151A NM_175881 NP_787077 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 151 0 CCATACAGAGTGATGGACCTC 0.627 TSPAN3 10099 broad.mit.edu 37 15 77348191 77348191 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:77348191C>T uc002bcj.2 - 3 487 c.270G>A c.(268-270)CTG>CTA p.L90L TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Silent_p.L26L|TSPAN3_uc010bkx.2_Intron NM_005724 NP_005715 O60637 TSN3_HUMAN transmembrane 4 superfamily member 8 isoform 1 90 Helical; (Potential). integral to membrane 0 all cancers(203;1.14e-19) AAACCAAGAGCAGGATGATGA 0.294 MORF4L1 10933 broad.mit.edu 37 15 79189365 79189365 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:79189365G>A uc002bel.2 + 13 1233 c.1045G>A c.(1045-1047)GAT>AAT p.D349N MORF4L1_uc002bem.2_Missense_Mutation_p.D310N|MORF4L1_uc010une.1_Missense_Mutation_p.D222N NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN MORF-related gene 15 isoform 2 349 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding 0 CAGTGCCAGCGATTATGAAGT 0.373 ARNT2 9915 broad.mit.edu 37 15 80866507 80866507 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:80866507G>T uc002bfr.2 + 13 1501 c.1335G>T c.(1333-1335)CAG>CAT p.Q445H ARNT2_uc010unm.1_Missense_Mutation_p.Q434H|ARNT2_uc002bfs.2_Missense_Mutation_p.Q434H NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 445 Poly-Gln. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) AGCAACAGCAGGCAGAATTGG 0.483 IL16 3603 broad.mit.edu 37 15 81601118 81601118 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:81601118C>T uc002bgh.3 + 19 4354 c.3978C>T c.(3976-3978)ACC>ACT p.T1326T IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1367T|IL16_uc002bgg.2_Silent_p.T1325T|IL16_uc002bgj.2_Silent_p.T819T|IL16_uc002bgk.2_Silent_p.T625T NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1326 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CCAAGGAAACCACAGCTGCTG 0.527 ZSCAN2 54993 broad.mit.edu 37 15 85147384 85147384 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:85147384G>A uc002bkr.2 + 2 452 c.226G>A c.(226-228)GCA>ACA p.A76T ZSCAN2_uc002bkp.2_Missense_Mutation_p.A76T|ZSCAN2_uc002bkq.2_Missense_Mutation_p.A76T|ZSCAN2_uc010bmz.1_Missense_Mutation_p.A75T|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoy.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoz.1_Missense_Mutation_p.A75T NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN zinc finger protein 29 isoform 1 76 SCAN box. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) ACCACAGGGTGCACTCGGCCG 0.627 MPG 4350 broad.mit.edu 37 16 135514 135514 + Missense_Mutation SNP G G A rs142373562 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:135514G>A uc002cfn.2 + 5 953 c.635G>A c.(634-636)CGC>CAC p.R212H MPG_uc002cfm.2_Missense_Mutation_p.R195H|MPG_uc002cfo.2_Missense_Mutation_p.R207H|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron NM_002434 NP_002425 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase isoform a 212 depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding ovary(1)|skin(1) 2 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTCAAGGACCGCGAGCTCTGC 0.632 BER_DNA_glycosylases CASKIN1 57524 broad.mit.edu 37 16 2237063 2237063 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:2237063C>T uc010bsg.1 - 9 878 c.846G>A c.(844-846)GCG>GCA p.A282A NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 282 SH3. signal transduction cytoplasm skin(2) 2 CCTGCAGGGCCGCTGAGGCCT 0.657 ABCA3 21 broad.mit.edu 37 16 2329104 2329104 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:2329104G>A uc002cpy.1 - 29 5099 c.4387C>T c.(4387-4389)CAG>TAG p.Q1463* ABCA3_uc010bsk.1_Nonsense_Mutation_p.Q1405* NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 1463 ABC transporter 2. 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) GCATCAAACTGCGGGCAGTAG 0.677 SRRM2 23524 broad.mit.edu 37 16 2815886 2815886 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:2815886G>A uc002crk.2 + 11 5906 c.5357G>A c.(5356-5358)CGA>CAA p.R1786Q SRRM2_uc002crj.1_Missense_Mutation_p.R1690Q|SRRM2_uc002crl.1_Missense_Mutation_p.R1786Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R1690Q NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1786 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AGAACAACCCGACGTCGAGAT 0.597 ZNF434 54925 broad.mit.edu 37 16 3434841 3434841 + Silent SNP G G A rs34249904 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:3434841G>A uc002cuz.2 - 5 1018 c.216C>T c.(214-216)AGC>AGT p.S72S ZNF434_uc002cux.3_Silent_p.S283S|ZNF434_uc010uwx.1_5'UTR|ZNF434_uc002cuy.3_5'UTR|ZNF434_uc010uwy.1_5'UTR|ZNF434_uc010uwz.1_Silent_p.S283S|ZNF434_uc010uxa.1_Silent_p.S72S NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGTAGATCTGGCTGTTCTGCT 0.517 ADCY9 115 broad.mit.edu 37 16 4016604 4016604 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:4016604G>A uc002cvx.2 - 11 3773 c.3234C>T c.(3232-3234)GGC>GGT p.G1078G NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1078 Guanylate cyclase 2.|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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 AGCACTCCTTGCCGCCCTCGT 0.567 ROGDI 79641 broad.mit.edu 37 16 4848176 4848176 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:4848176C>T uc002cxv.2 - 8 643 c.541G>A c.(541-543)GCC>ACC p.A181T ROGDI_uc002cxu.2_Missense_Mutation_p.A91T|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A91T NM_024589 NP_078865 Q9GZN7 ROGDI_HUMAN leucine zipper domain protein 181 intracellular ovary(1)|skin(1) 2 AGGGCAGGGGCGAACATCCGC 0.652 USP7 7874 broad.mit.edu 37 16 8987861 8987861 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:8987861A>G uc002czl.2 - 31 3502 c.3303T>C c.(3301-3303)CAT>CAC p.H1101H USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.H1002H|USP7_uc002czk.2_Silent_p.H1085H NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 1101 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 GAAATCAGTTATGGATTTTAA 0.512 CIITA 4261 broad.mit.edu 37 16 11012339 11012339 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:11012339C>T uc002dai.3 + 16 3238 c.3105C>T c.(3103-3105)CTC>CTT p.L1035L CIITA_uc002daj.3_Silent_p.L1036L|CIITA_uc002dak.3_Silent_p.L451L NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 1035 LRR 2. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CCTACAAACTCGCCGAGGCCC 0.632 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| OREG0023606 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMC5 79838 broad.mit.edu 37 16 19451656 19451656 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:19451656C>A uc002dgc.3 + 3 1045 c.296C>A c.(295-297)CCA>CAA p.P99Q TMC5_uc010vaq.1_Missense_Mutation_p.P99Q|TMC5_uc002dgb.3_Missense_Mutation_p.P99Q|TMC5_uc010var.1_Missense_Mutation_p.P99Q NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 99 Extracellular (Potential). integral to membrane skin(1) 1 AGAACAAGCCCAGACCATCCT 0.483 CDR2 1039 broad.mit.edu 37 16 22359005 22359005 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:22359005G>A uc002dkn.2 - 5 954 c.646C>T c.(646-648)CGG>TGG p.R216W NM_001802 NP_001793 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2 216 Potential. nucleus protein binding skin(1) 1 GBM - Glioblastoma multiforme(48;0.0188) ATAGTCACCCGCTTCTGCCGC 0.557 ERN2 10595 broad.mit.edu 37 16 23703645 23703645 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:23703645G>A uc002dma.3 - 18 2421 c.2252C>T c.(2251-2253)GCT>GTT p.A751V ERN2_uc010bxp.2_Missense_Mutation_p.A699V NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 703 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GATGTCCACAGCGCTGGTCTG 0.547 GTF3C1 2975 broad.mit.edu 37 16 27499732 27499732 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:27499732G>A uc002dov.1 - 23 3556 c.3516C>T c.(3514-3516)AAC>AAT p.N1172N GTF3C1_uc002dou.2_Silent_p.N1172N NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1172 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TCAACCTGCTGTTGCCTAGAC 0.537 PRRT2 112476 broad.mit.edu 37 16 29824719 29824719 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:29824719G>A uc002due.3 + 2 645 c.344G>A c.(343-345)AGC>AAC p.S115N uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S115N|PRRT2_uc002duf.1_Missense_Mutation_p.S115N|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 115 Extracellular (Potential). response to biotic stimulus integral to membrane 0 CCAGAAGTGAGCAAAGAGGCC 0.622 ZNF689 115509 broad.mit.edu 37 16 30616285 30616285 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:30616285C>T uc002dyx.2 - 3 1123 c.803G>A c.(802-804)CGT>CAT p.R268H ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 268 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GGCGAAGCGACGTCCACAGCT 0.637 SRCAP 10847 broad.mit.edu 37 16 30735944 30735944 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:30735944T>G uc002dze.1 + 25 5584 c.5199T>G c.(5197-5199)TCT>TCG p.S1733S SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S1528S|SRCAP_uc010bzz.1_Silent_p.S1303S NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1733 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGACACTGTCTTTGGCACCAG 0.532 PHKG2 5261 broad.mit.edu 37 16 30762564 30762564 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:30762564C>G uc002dzk.1 + 3 326 c.233C>G c.(232-234)ACA>AGA p.T78R PHKG2_uc002dzi.1_Missense_Mutation_p.T78R|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.T78R NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 78 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) CGGCGAGAGACACACATCCTT 0.627 ITGAX 3687 broad.mit.edu 37 16 31374534 31374534 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:31374534C>T uc002ebu.1 + 14 1616 c.1549C>T c.(1549-1551)CCC>TCC p.P517S ITGAX_uc002ebt.2_Missense_Mutation_p.P517S|ITGAX_uc010vfk.1_Missense_Mutation_p.P167S NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 517 Extracellular (Potential).|FG-GAP 6. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAGGGCCACCCCTGGGGTCG 0.632 SLC5A2 6524 broad.mit.edu 37 16 31497187 31497187 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:31497187T>G uc002ecf.3 + 4 460 c.441T>G c.(439-441)CTT>CTG p.L147L SLC5A2_uc010car.2_RNA NM_003041 NP_003032 P31639 SC5A2_HUMAN solute carrier family 5 (sodium/glucose 147 Extracellular (Potential). carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity ovary(1) 1 TGCTCTCCCTTTTCCTGTACA 0.597 ZNF423 23090 broad.mit.edu 37 16 49670025 49670025 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:49670025A>G uc002efs.2 - 5 3336 c.3038T>C c.(3037-3039)CTG>CCG p.L1013P ZNF423_uc010vgn.1_Missense_Mutation_p.L896P NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1013 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGAGTTGCGCAGGTCAGGGTG 0.582 SALL1 6299 broad.mit.edu 37 16 51171374 51171374 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:51171374G>A uc010vgs.1 - 3 3655 c.3624C>T c.(3622-3624)GGC>GGT p.G1208G SALL1_uc010vgr.1_Silent_p.G1111G|SALL1_uc010cbv.2_Silent_p.G60G NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1208 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGACGGGATTGCCTCCTAGAA 0.547 RPGRIP1L 23322 broad.mit.edu 37 16 53730177 53730177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:53730177C>T uc002ehp.2 - 3 180 c.116G>A c.(115-117)CGC>CAC p.R39H RPGRIP1L_uc002eho.3_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R39H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R39H NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 39 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) CACTGCCTGGCGAGACTTCAT 0.398 CAPNS2 84290 broad.mit.edu 37 16 55601280 55601280 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:55601280G>A uc002eid.1 + 1 697 c.612G>A c.(610-612)ATG>ATA p.M204I LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN calpain small subunit 2 204 EF-hand 3. cytoplasm|plasma membrane calcium ion binding 0 ATGGAGATATGGATTTTAACA 0.478 CNGB1 1258 broad.mit.edu 37 16 57918087 57918087 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:57918087C>A uc002emt.2 - 33 3802 c.3737G>T c.(3736-3738)AGG>ATG p.R1246M CNGB1_uc010cdh.2_Missense_Mutation_p.R1240M NM_001297 NP_001288 Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 isoform 1246 Cytoplasmic (Potential). sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3)|pancreas(1) 4 CTTCTCCTCCCTTTCCTCCGG 0.711 PRSS54 221191 broad.mit.edu 37 16 58324917 58324917 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:58324917C>T uc002enf.2 - 4 604 c.209G>A c.(208-210)GGC>GAC p.G70D PRSS54_uc002eng.2_Missense_Mutation_p.G70D|PRSS54_uc010vie.1_Intron NM_001080492 NP_001073961 Q6PEW0 PRS54_HUMAN plasma kallikrein-like protein 4 precursor 70 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CAGGATGCAGCCGAAAGCCAG 0.627 CA7 766 broad.mit.edu 37 16 66886682 66886682 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:66886682C>T uc002eqi.2 + 6 693 c.584C>T c.(583-585)ACC>ATC p.T195I uc002eqh.2_Intron|CA7_uc002eqj.2_Missense_Mutation_p.T139I NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 195 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) CACTACTGGACCTACCCGGGC 0.602 EXOC3L 283849 broad.mit.edu 37 16 67221487 67221487 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:67221487C>T uc002erx.1 - 5 922 c.681G>A c.(679-681)GCG>GCA p.A227A EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Silent_p.A171A|EXOC3L_uc010vje.1_Silent_p.A166A NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 227 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) TCTCCACCTCCGCCACACGCA 0.692 TMEM208 29100 broad.mit.edu 37 16 67262461 67262461 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:67262461C>T uc002esi.2 + 4 332 c.226C>T c.(226-228)CGA>TGA p.R76* LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA NM_014187 NP_054906 Q9BTX3 TM208_HUMAN HSPC171 protein 76 integral to membrane 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CTCGATGGCACGAGCAGCGTT 0.602 SLC7A6 9057 broad.mit.edu 37 16 68330529 68330529 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:68330529G>A uc002evt.1 + 11 1579 c.1270_splice c.e11-1 p.L424_splice SLC7A6_uc002evu.1_Splice_Site_p.L424_splice|SLC7A6_uc002evv.1_Splice_Site|SLC7A6_uc010cfc.1_Splice_Site NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) CTCTATTTCAGCTGAGCGTGT 0.527 NFAT5 10725 broad.mit.edu 37 16 69660331 69660331 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:69660331G>T uc002exm.1 + 2 1307 c.99G>T c.(97-99)AAG>AAT p.K33N NFAT5_uc002exh.1_Translation_Start_Site|NFAT5_uc002exi.2_Translation_Start_Site|NFAT5_uc002exj.1_Translation_Start_Site|NFAT5_uc002exk.1_Translation_Start_Site|NFAT5_uc002exl.1_Missense_Mutation_p.K51N|NFAT5_uc002exn.1_Missense_Mutation_p.K51N NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 33 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TTCTCCCAAAGGAGTTACAGT 0.443 NFAT5 10725 broad.mit.edu 37 16 69727103 69727103 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:69727103C>A uc002exm.1 + 12 4529 c.3321C>A c.(3319-3321)ACC>ACA p.T1107T NFAT5_uc002exi.2_Silent_p.T1031T|NFAT5_uc002exj.1_Silent_p.T1031T|NFAT5_uc002exk.1_Silent_p.T1031T|NFAT5_uc002exl.1_Silent_p.T1125T|NFAT5_uc002exn.1_Silent_p.T1124T|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1107 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CTTCTACAACCTCCTCTGAAC 0.443 NFAT5 10725 broad.mit.edu 37 16 69727684 69727684 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:69727684A>G uc002exm.1 + 12 5110 c.3902A>G c.(3901-3903)CAG>CGG p.Q1301R NFAT5_uc002exi.2_Missense_Mutation_p.Q1225R|NFAT5_uc002exj.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exk.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exl.1_Missense_Mutation_p.Q1319R|NFAT5_uc002exn.1_Missense_Mutation_p.Q1318R|NFAT5_uc002exo.1_RNA NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 1301 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 ATGGCTAATCAGGAGCAACAG 0.413 AARS 16 broad.mit.edu 37 16 70305734 70305734 + Silent SNP G G A rs147424208 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:70305734G>A uc002eyn.1 - 5 731 c.621C>T c.(619-621)GAC>GAT p.D207D AARS_uc010vlu.1_Silent_p.D37D NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 207 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) CATTAGGGTCGTCCTGGTTGA 0.557 ZFHX3 463 broad.mit.edu 37 16 72822269 72822269 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:72822269C>T uc002fck.2 - 10 10579 c.9906G>A c.(9904-9906)TTG>TTA p.L3302L ZFHX3_uc002fcl.2_Silent_p.L2388L NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3302 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GGCTTGTGAGCAATGCTGTGG 0.597 ZFHX3 463 broad.mit.edu 37 16 72992505 72992505 + Missense_Mutation SNP C C T rs150708008 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:72992505C>T uc002fck.2 - 2 2213 c.1540G>A c.(1540-1542)GCA>ACA p.A514T ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 514 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CTACCTGCTGCGGCCCCAGGC 0.473 BCAR1 9564 broad.mit.edu 37 16 75263732 75263732 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:75263732C>T uc002fdv.2 - 7 2413 c.2290G>A c.(2290-2292)GCC>ACC p.A764T BCAR1_uc002fdt.2_Missense_Mutation_p.A217T|BCAR1_uc002fdu.2_Missense_Mutation_p.A554T|BCAR1_uc010cgu.2_Missense_Mutation_p.A753T|BCAR1_uc010vna.1_Missense_Mutation_p.A762T|BCAR1_uc010vnb.1_Missense_Mutation_p.A810T|BCAR1_uc002fdw.2_Missense_Mutation_p.A764T|BCAR1_uc010vnc.1_Missense_Mutation_p.A616T|BCAR1_uc010vnd.1_Missense_Mutation_p.A782T|BCAR1_uc002fdx.2_Missense_Mutation_p.A782T NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 764 Divergent helix-loop-helix motif. actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GTAAAGAAGGCGTCCACGGCG 0.642 ADAMTS18 170692 broad.mit.edu 37 16 77465453 77465453 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:77465453G>A uc002ffc.3 - 3 653 c.234C>T c.(232-234)CAC>CAT p.H78H ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 78 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 GCAAAATGTCGTGTGAAATAT 0.488 CMIP 80790 broad.mit.edu 37 16 81730231 81730231 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:81730231G>T uc002fgp.2 + 14 1669 c.1597G>T c.(1597-1599)GGG>TGG p.G533W CMIP_uc002fgq.1_Missense_Mutation_p.G439W|CMIP_uc010vnq.1_Missense_Mutation_p.G346W|CMIP_uc002fgr.1_Missense_Mutation_p.G380W|CMIP_uc010vnr.1_Missense_Mutation_p.G99W NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 499 cytoplasm|nucleus 0 CAGCCCCGGAGGGGTGGCCTG 0.647 HSD17B2 3294 broad.mit.edu 37 16 82104706 82104706 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:82104706G>T uc002fgv.2 + 3 810 c.638G>T c.(637-639)AGG>ATG p.R213M NM_002153 NP_002144 P37059 DHB2_HUMAN hydroxysteroid (17-beta) dehydrogenase 2 213 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity ovary(1)|central_nervous_system(1) 2 NADH(DB00157) TCCAAAGGGAGGCTGGTGAAT 0.478 ZDHHC7 55625 broad.mit.edu 37 16 85009967 85009967 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:85009967G>A uc002fiq.2 - 8 1262 c.909C>T c.(907-909)GGC>GGT p.G303G ZDHHC7_uc010voi.1_Silent_p.G340G|ZDHHC7_uc002fir.1_RNA NM_017740 NP_060210 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 isoform 2 303 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(1) 1 AGAACTCCGGGCCACCTTTTC 0.532 ZCCHC14 23174 broad.mit.edu 37 16 87493704 87493704 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:87493704C>T uc002fjz.1 - 2 220 c.193G>A c.(193-195)GTC>ATC p.V65I ZCCHC14_uc002fka.1_RNA NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 65 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) CTATTACTGACACTGCTGACA 0.478 ZNF778 197320 broad.mit.edu 37 16 89293323 89293323 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:89293323T>C uc002fmv.2 + 6 882 c.543T>C c.(541-543)TCT>TCC p.S181S ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.S139S|ZNF778_uc010vpg.1_5'UTR NM_182531 NP_872337 Q96MU6 ZN778_HUMAN zinc finger protein 778 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0269) CCTTCAGCTCTACTCCAAATG 0.448 SCARF1 8578 broad.mit.edu 37 17 1538704 1538704 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:1538704C>T uc002fsz.1 - 11 1891 c.1841G>A c.(1840-1842)CGA>CAA p.R614Q SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 614 Pro/Ser-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTTGGGCTTTCGGAGCGGGCT 0.662 RTN4RL1 146760 broad.mit.edu 37 17 1841018 1841018 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:1841018G>A uc002ftp.2 - 2 117 c.98C>T c.(97-99)CCG>CTG p.P33L NM_178568 NP_848663 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 precursor 33 LRRNT. axon regeneration anchored to plasma membrane receptor activity 0 CATGGGCGCCGGGTAGCACAC 0.657 SMG6 23293 broad.mit.edu 37 17 2186096 2186096 + Missense_Mutation SNP G G A rs149940409 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:2186096G>A uc002fub.1 - 8 2561 c.2506C>T c.(2506-2508)CGG>TGG p.R836W NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 836 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TTTCCTTTCCGCCACTGGTCA 0.448 OR1E2 8388 broad.mit.edu 37 17 3336588 3336588 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:3336588A>G uc010vre.1 - 1 548 c.548T>C c.(547-549)ATC>ACC p.I183T NM_003554 NP_003545 P47887 OR1E2_HUMAN olfactory receptor, family 1, subfamily E, 183 Extracellular (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity large_intestine(1) 1 AAAGTGGGGGATCACATTGTC 0.493 ANKFY1 51479 broad.mit.edu 37 17 4145690 4145690 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:4145690T>C uc002fxq.1 - 2 102 c.64A>G c.(64-66)AAG>GAG p.K22E ANKFY1_uc002fxn.2_Missense_Mutation_p.K64E|ANKFY1_uc002fxo.2_Missense_Mutation_p.K22E|ANKFY1_uc002fxp.2_Missense_Mutation_p.K22E|ANKFY1_uc010ckp.2_Silent_p.S2S|ANKFY1_uc002fxr.2_Missense_Mutation_p.K22E|ANKFY1_uc010vrz.1_Missense_Mutation_p.K22E NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 22 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 TTCTGCAGCTTGACATACTCC 0.557 ALOX15 246 broad.mit.edu 37 17 4539052 4539052 + Splice_Site SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:4539052A>G uc002fyh.2 - 8 1175 c.1161_splice c.e8+1 p.K387_splice ALOX15_uc010vsd.1_Splice_Site_p.K348_splice|ALOX15_uc010vse.1_Splice_Site_p.K409_splice NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) ATAAGGAGTTACCTTGAAGAT 0.562 PSMB6 5694 broad.mit.edu 37 17 4700797 4700797 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:4700797C>T uc002fzb.2 + 3 268 c.235C>T c.(235-237)CGC>TGC p.R79C NM_002798 NP_002789 P28072 PSB6_HUMAN proteasome beta 6 subunit precursor 79 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 TTTCTGCTGTCGCTCAGGCTC 0.557 CAMTA2 23125 broad.mit.edu 37 17 4883429 4883429 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:4883429T>C uc002gah.1 - 9 1296 c.1188A>G c.(1186-1188)GTA>GTG p.V396V CAMTA2_uc010cku.1_Silent_p.V419V|CAMTA2_uc002gag.1_Silent_p.V395V|CAMTA2_uc002gai.1_Silent_p.V398V|CAMTA2_uc010ckv.1_Silent_p.V43V|CAMTA2_uc010vsu.1_Silent_p.V209V NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 396 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 AGTCTGGGCTTACTCCCTGCC 0.657 PITPNM3 83394 broad.mit.edu 37 17 6376136 6376136 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:6376136G>A uc002gdd.3 - 11 1421 c.1270C>T c.(1270-1272)CGT>TGT p.R424C PITPNM3_uc010cln.2_Missense_Mutation_p.R388C|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.R15C NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 424 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) CAGGCAGGACGCACCTGGAAG 0.632 OREG0024122 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC13A5 284111 broad.mit.edu 37 17 6606371 6606371 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:6606371T>C uc002gdj.2 - 5 722 c.634A>G c.(634-636)ATC>GTC p.I212V SLC13A5_uc010vtf.1_Missense_Mutation_p.I212V|SLC13A5_uc010clq.2_Missense_Mutation_p.I169V|SLC13A5_uc002gdk.2_Missense_Mutation_p.I195V|SLC13A5_uc002gdl.1_Missense_Mutation_p.I194V NM_177550 NP_808218 Q86YT5 S13A5_HUMAN solute carrier family 13, member 5 isoform a 212 integral to membrane citrate transmembrane transporter activity 0 GCGTAGCAGATGCACAGGGTC 0.622 ACAP1 9744 broad.mit.edu 37 17 7250431 7250431 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:7250431G>A uc002ggd.2 + 14 1419 c.1213G>A c.(1213-1215)GGG>AGG p.G405R NM_014716 NP_055531 Q15027 ACAP1_HUMAN centaurin beta1 405 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding breast(2)|large_intestine(1) 3 TGGGGGAGTCGGGCACGTGGT 0.677 PFAS 5198 broad.mit.edu 37 17 8170707 8170707 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:8170707G>C uc002gkr.2 + 25 3334 c.3193G>C c.(3193-3195)GTC>CTC p.V1065L PFAS_uc010vuv.1_Missense_Mutation_p.V641L|PFAS_uc002gks.2_Missense_Mutation_p.V144L NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1065 Glutamine amidotransferase type-1. 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAGCCCCCGAGTCGCCATCTT 0.617 ARHGEF15 22899 broad.mit.edu 37 17 8224225 8224225 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:8224225G>A uc002glc.2 + 16 2561 c.2440G>A c.(2440-2442)GAA>AAA p.E814K ARHGEF15_uc002gld.2_Missense_Mutation_p.E814K|ARHGEF15_uc010vuw.1_Missense_Mutation_p.E703K NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 814 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AGGGGAACACGAAAGGAGGAG 0.612 NTN1 9423 broad.mit.edu 37 17 9066226 9066226 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:9066226G>A uc002glw.3 + 3 1222 c.1115G>A c.(1114-1116)CGC>CAC p.R372H NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 372 Laminin EGF-like 2. apoptosis|axon guidance protein binding 0 CTCAACTGTCGCCACAACACC 0.627 DNAH9 1770 broad.mit.edu 37 17 11556249 11556249 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:11556249G>A uc002gne.2 + 14 2593 c.2525G>A c.(2524-2526)CGG>CAG p.R842Q DNAH9_uc010coo.2_Missense_Mutation_p.R136Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 842 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGGATGATCGGCATGATCGA 0.418 RAI1 10743 broad.mit.edu 37 17 17696894 17696894 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:17696894A>G uc002grm.2 + 3 1101 c.632A>G c.(631-633)CAG>CGG p.Q211R RAI1_uc002grn.1_Missense_Mutation_p.Q211R NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 211 Gln-rich. cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CACTTTCCTCAGCATTCCCAG 0.632 TOP3A 7156 broad.mit.edu 37 17 18188830 18188830 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:18188830C>A uc002gsx.1 - 14 1831 c.1602G>T c.(1600-1602)ACG>ACT p.T534T TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Silent_p.T64T|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T432T NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 534 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 GAGTGGCATCCGTACCTGGAA 0.607 MAPK7 5598 broad.mit.edu 37 17 19284070 19284070 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:19284070T>C uc002gvn.2 + 4 934 c.548T>C c.(547-549)CTG>CCG p.L183P B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.L44P|MAPK7_uc002gvq.2_Missense_Mutation_p.L183P|MAPK7_uc002gvp.2_Missense_Mutation_p.L183P NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 183 Necessary for oligomerization (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CACCGTGACCTGAAGCCCTCC 0.562 SLC47A2 146802 broad.mit.edu 37 17 19582127 19582127 + Missense_Mutation SNP C C T rs113234335 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:19582127C>T uc002gwe.3 - 17 1856 c.1681G>A c.(1681-1683)GCC>ACC p.A561T SLC47A2_uc002gwg.3_Missense_Mutation_p.A525T|SLC47A2_uc002gwf.3_Missense_Mutation_p.A539T|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA NM_152908 NP_690872 Q86VL8 S47A2_HUMAN solute carrier family 47, member 2 isoform 1 561 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245) GCTGAAAGGGCGTGGGCCTCC 0.597 TMEM11 8834 broad.mit.edu 37 17 21101950 21101950 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:21101950C>T uc002gyp.2 - 2 709 c.266G>A c.(265-267)GGC>GAC p.G89D TMEM11_uc002gyq.2_3'UTR NM_003876 NP_003867 P17152 TMM11_HUMAN transmembrane protein 11 89 Helical; (Potential). mitochondrion organization integral to mitochondrial inner membrane|integral to plasma membrane protein binding 0 GCAGGCGGTGCCCGCCAGCAC 0.612 KCNJ12 3768 broad.mit.edu 37 17 21319207 21319207 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:21319207G>A uc002gyv.1 + 3 1258 c.553G>A c.(553-555)GCA>ACA p.A185T NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 185 Cytoplasmic (By similarity). A -> V (in Ref. 2; AAC50615). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GGCCAAGATGGCAAGGCCCAA 0.622 Prostate(3;0.18) CCL1 6346 broad.mit.edu 37 17 32688803 32688803 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:32688803C>T uc002hid.1 - 2 260 c.188_splice c.e2+1 p.I63_splice NM_002981 NP_002972 P22362 CCL1_HUMAN small inducible cytokine A1 precursor cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity 0 Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) TGATCACTTACATTAAGCCCT 0.463 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GPR179 440435 broad.mit.edu 37 17 36499065 36499065 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:36499065G>A uc002hpz.2 - 1 629 c.608C>T c.(607-609)ACC>ATC p.T203I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 203 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TAGGTCATTGGTCAACACTCG 0.617 IKZF3 22806 broad.mit.edu 37 17 37922216 37922216 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:37922216G>A uc002hsu.2 - 8 1419 c.1357C>T c.(1357-1359)CGG>TGG p.R453W IKZF3_uc002htd.2_Missense_Mutation_p.R419W|IKZF3_uc010cwd.2_Missense_Mutation_p.R310W|IKZF3_uc002hsv.2_Missense_Mutation_p.R380W|IKZF3_uc010cwe.2_Missense_Mutation_p.R319W|IKZF3_uc010cwf.2_Missense_Mutation_p.R271W|IKZF3_uc010cwg.2_Missense_Mutation_p.R232W|IKZF3_uc002hsw.2_Missense_Mutation_p.R414W|IKZF3_uc002hsx.2_Missense_Mutation_p.R397W|IKZF3_uc002hsy.2_Missense_Mutation_p.R414W|IKZF3_uc002hsz.2_Missense_Mutation_p.R358W|IKZF3_uc002hta.2_Missense_Mutation_p.R375W|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R366W|IKZF3_uc002htc.2_Missense_Mutation_p.R206W|IKZF3_uc010wel.1_Missense_Mutation_p.R206W NM_012481 NP_036613 Q9UKT9 IKZF3_HUMAN aiolos isoform 1 453 C2H2-type 5. B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2)|kidney(2)|skin(2) 6 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGTCACACCGATACACATCC 0.562 TNS4 84951 broad.mit.edu 37 17 38641181 38641181 + Missense_Mutation SNP C C T rs143122913 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:38641181C>T uc010cxb.2 - 5 1531 c.1367G>A c.(1366-1368)CGA>CAA p.R456Q NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 456 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACCTTGCTCTCGGGTGATGTT 0.522 KRT25 147183 broad.mit.edu 37 17 38910657 38910657 + Missense_Mutation SNP C C A rs142825612 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:38910657C>A uc002hve.2 - 2 554 c.493G>T c.(493-495)GCT>TCT p.A165S NM_181534 NP_853512 Q7Z3Z0 K1C25_HUMAN keratin 25 165 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity ovary(2) 2 Breast(137;0.00526) AAATCATCAGCTGTAAGCCTG 0.388 KRT27 342574 broad.mit.edu 37 17 38936051 38936051 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:38936051G>A uc002hvg.2 - 4 788 c.747C>T c.(745-747)CCC>CCT p.P249P NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 249 Rod.|Linker 12. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) GGTCTACCCCGGGGGCCGCGT 0.537 KRTAP4-5 85289 broad.mit.edu 37 17 39305733 39305733 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:39305733C>T uc002hwb.2 - 1 322 c.287G>A c.(286-288)TGC>TAC p.C96Y NM_033188 NP_149445 Q9BYR2 KRA45_HUMAN keratin associated protein 4-5 101 27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|17. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gctggggcagcagcaggtggt 0.124 DHX58 79132 broad.mit.edu 37 17 40255749 40255749 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:40255749C>A uc002hyw.3 - 12 1854 c.1631G>T c.(1630-1632)CGG>CTG p.R544L DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.R537L NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 544 Potential. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GAACTGCTGCCGCTGGTTCTC 0.667 KAT2A 2648 broad.mit.edu 37 17 40271369 40271369 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:40271369G>A uc002hyx.2 - 6 1027 c.967C>T c.(967-969)CGG>TGG p.R323W NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 323 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 AAAATGGACCGGAGAAGGCTT 0.572 NAGLU 4669 broad.mit.edu 37 17 40695344 40695344 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:40695344C>T uc002hzv.2 + 6 1660 c.1320C>T c.(1318-1320)GGC>GGT p.G440G NM_000263 NP_000254 P54802 ANAG_HUMAN alpha-N-acetylglucosaminidase precursor 440 lysosome alpha-N-acetylglucosaminidase activity 0 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCATGGTAGGCACGGGCATGG 0.602 PSMC3IP 29893 broad.mit.edu 37 17 40725006 40725006 + Missense_Mutation SNP C C T rs149230650 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:40725006C>T uc002iai.2 - 8 677 c.634G>A c.(634-636)GTC>ATC p.V212I MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.V149I|PSMC3IP_uc002iak.2_Missense_Mutation_p.V200I|PSMC3IP_uc010wgn.1_Missense_Mutation_p.V133I|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA NM_016556 NP_057640 Q9P2W1 HOP2_HUMAN PSMC3 interacting protein isoform 2 212 DNA recombination|meiosis nucleus DNA binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395) BRCA - Breast invasive adenocarcinoma(366;0.13) GGGAGTGTGACGTTGTAATCT 0.522 DHX8 1659 broad.mit.edu 37 17 41582101 41582101 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:41582101A>G uc002idu.1 + 12 1709 c.1636A>G c.(1636-1638)AAC>GAC p.N546D DHX8_uc010wif.1_Missense_Mutation_p.N455D|DHX8_uc010wig.1_Missense_Mutation_p.N546D NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 546 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CTTTGGGGGCAACAAAGCCTC 0.502 G6PC3 92579 broad.mit.edu 37 17 42152386 42152386 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:42152386G>A uc002iex.2 + 4 682 c.466G>A c.(466-468)GCG>ACG p.A156T G6PC3_uc002iey.2_Missense_Mutation_p.A31T|G6PC3_uc010czo.2_Missense_Mutation_p.A12T|G6PC3_uc002iez.2_Missense_Mutation_p.A31T|G6PC3_uc002ifb.2_Missense_Mutation_p.A31T|G6PC3_uc002ifc.2_Intron NM_138387 NP_612396 Q9BUM1 G6PC3_HUMAN glucose-6-phosphatase catalytic subunit 3 156 Helical; (Potential). gluconeogenesis|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity skin(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.113) CTTCCTTTTGGCGGTTGGCTT 0.552 SP2 6668 broad.mit.edu 37 17 45993964 45993964 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:45993964C>A uc002imk.2 + 3 664 c.527C>A c.(526-528)CCT>CAT p.P176H SP2_uc002iml.2_Missense_Mutation_p.P169H|uc002imm.2_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 176 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 AGTCACAAGCCTGTCCCCATC 0.597 HOXB3 3213 broad.mit.edu 37 17 46628308 46628308 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:46628308G>A uc002inn.2 - 2 1084 c.684C>T c.(682-684)AGC>AGT p.S228S HOXB3_uc010wlm.1_Silent_p.S155S|HOXB3_uc010dbf.2_Silent_p.S228S|HOXB3_uc010dbg.2_Silent_p.S228S|HOXB3_uc002ino.2_Silent_p.S228S|HOXB3_uc010wlk.1_Silent_p.S96S|HOXB3_uc010wll.1_Silent_p.S155S NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 228 Homeobox. angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 TCTGCCGCTCGCTGAGGTTCA 0.602 ZNF652 22834 broad.mit.edu 37 17 47389292 47389292 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:47389292G>A uc002iov.3 - 4 1625 c.1161C>T c.(1159-1161)TGC>TGT p.C387C ZNF652_uc002iow.2_Silent_p.C387C|ZNF652_uc002iou.3_RNA NM_001145365 NP_001138837 Q9Y2D9 ZN652_HUMAN zinc finger protein 652 387 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17) BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05) TCCTTACCTCGCATCTAAAGG 0.512 SPOP 8405 broad.mit.edu 37 17 47679303 47679303 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:47679303C>T uc010dbk.2 - 10 1536 c.904G>A c.(904-906)GCT>ACT p.A302T SPOP_uc002ipb.2_Missense_Mutation_p.A302T|SPOP_uc002ipc.2_Missense_Mutation_p.A302T|SPOP_uc002ipd.2_Missense_Mutation_p.A302T|SPOP_uc002ipe.2_Missense_Mutation_p.A302T|SPOP_uc002ipf.2_Missense_Mutation_p.A302T|SPOP_uc002ipg.2_Missense_Mutation_p.A302T NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 302 Homodimerization. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 ATTTCTGCAGCGTTCTCCACG 0.493 Prostate(2;0.17) WFIKKN2 124857 broad.mit.edu 37 17 48917397 48917397 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:48917397C>T uc002isv.3 + 2 1442 c.748C>T c.(748-750)CGG>TGG p.R250W WFIKKN2_uc010dbu.2_Missense_Mutation_p.R157W NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 250 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTTGGAGGATCGGGAGAATGT 0.602 STXBP4 252983 broad.mit.edu 37 17 53076712 53076712 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:53076712C>T uc002iuf.1 + 5 394 c.187C>T c.(187-189)CGT>TGT p.R63C STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Missense_Mutation_p.R63C NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 63 PDZ. cytoplasm calcium ion binding ovary(1) 1 TTAGGATGGTCGTTTGAAGCC 0.323 CLTC 1213 broad.mit.edu 37 17 57697508 57697508 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:57697508C>T uc002ixq.1 + 1 459 c.16C>T c.(16-18)CCA>TCA p.P6S CLTC_uc002ixp.2_Missense_Mutation_p.P6S|CLTC_uc002ixr.1_Missense_Mutation_p.P6S NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 6 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CCAGATTCTGCCAATTCGTTT 0.453 T ALK|TFE3 ALCL|renal BRIP1 83990 broad.mit.edu 37 17 59878681 59878681 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:59878681A>G uc002izk.1 - 8 1214 c.1073T>C c.(1072-1074)CTA>CCA p.L358P NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 358 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 ATCTTGTATTAGTTCTCGGGC 0.403 F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia FTSJ3 117246 broad.mit.edu 37 17 61898199 61898199 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:61898199C>T uc002jbz.2 - 17 2150 c.2072G>A c.(2071-2073)CGG>CAG p.R691Q FTSJ3_uc002jca.2_Missense_Mutation_p.R691Q NM_017647 NP_060117 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 691 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding ovary(1) 1 GCCCCTTTACCGGTTGAAGGA 0.393 RGS9 8787 broad.mit.edu 37 17 63206652 63206652 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:63206652C>A uc002jfe.2 + 17 1446 c.1336C>A c.(1336-1338)CCT>ACT p.P446T RGS9_uc010dem.2_Missense_Mutation_p.P443T|RGS9_uc002jfd.2_Missense_Mutation_p.P443T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P217T NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 446 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CAGCCCAAGCCCTGTCATCCT 0.582 ABCA10 10349 broad.mit.edu 37 17 67178331 67178331 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:67178331G>A uc010dfa.1 - 23 3611 c.2732C>T c.(2731-2733)ACG>ATG p.T911M ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 911 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) AATAAGCTCCGTGAAGTTAAA 0.294 TTYH2 94015 broad.mit.edu 37 17 72240133 72240133 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:72240133C>T uc002jkc.2 + 6 780 c.749C>T c.(748-750)GCA>GTA p.A250V TTYH2_uc010wqw.1_Missense_Mutation_p.A229V NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 250 Helical; Name=4; (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 TGCTGTGGGGCACTGAGCCTG 0.672 UNK 85451 broad.mit.edu 37 17 73819409 73819409 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:73819409G>A uc002jpm.2 + 16 2311 c.2311G>A c.(2311-2313)GAG>AAG p.E771K NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 695 Potential. nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCGGGCGCCGAGTGCGAGCT 0.677 SEPT9 10801 broad.mit.edu 37 17 75484906 75484906 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:75484906G>A uc002jts.3 + 7 1348 c.1222G>A c.(1222-1224)GTC>ATC p.V408I SEPT9_uc010wtk.1_Missense_Mutation_p.V389I|SEPT9_uc002jtt.3_Missense_Mutation_p.V244I|SEPT9_uc002jtu.3_Missense_Mutation_p.V390I|SEPT9_uc002jtv.2_Missense_Mutation_p.V401I|SEPT9_uc002jtw.2_Missense_Mutation_p.V244I|SEPT9_uc010wtl.1_Missense_Mutation_p.V184I|SEPT9_uc002jty.3_Missense_Mutation_p.V157I|SEPT9_uc010wtm.1_Missense_Mutation_p.V157I|SEPT9_uc010wtn.1_Missense_Mutation_p.V157I|SEPT9_uc010dhd.2_Missense_Mutation_p.V296I NM_001113491 NP_001106963 Q9UHD8 SEPT9_HUMAN septin 9 isoform a 408 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding|protein binding breast(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(99;0.153) GGACACCCGCGTCCACTGCTG 0.612 PGS1 9489 broad.mit.edu 37 17 76415691 76415691 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:76415691G>A uc002jvm.2 + 9 1628 c.1616G>A c.(1615-1617)CGC>CAC p.R539H PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R252H|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R252H NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 539 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) CAGCCGAGTCGCCAGGTGAAG 0.537 TBC1D16 125058 broad.mit.edu 37 17 77926499 77926499 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:77926499G>A uc002jxj.2 - 4 1014 c.898C>T c.(898-900)CGC>TGC p.R300C TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 300 intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) AGGTCCACGCGGAACACGCCG 0.672 SLC26A11 284129 broad.mit.edu 37 17 78195522 78195522 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:78195522G>A uc002jyb.1 + 3 432 c.163G>A c.(163-165)GGC>AGC p.G55S SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.G55S|SLC26A11_uc002jyd.1_Missense_Mutation_p.G55S|SLC26A11_uc010dhv.1_Missense_Mutation_p.G55S NM_173626 NP_775897 Q86WA9 S2611_HUMAN solute carrier family 26, member 11 55 Helical; (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity 0 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TTTCGTCGCCGGCCTCTCAGT 0.672 AATK 9625 broad.mit.edu 37 17 79094232 79094232 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:79094232G>A uc010dia.2 - 11 3584 c.3504C>T c.(3502-3504)AGC>AGT p.S1168S AATK_uc010dhz.2_Intron NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1168 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CAGACTCGTCGCTGTCCTCAC 0.721 NOTUM 147111 broad.mit.edu 37 17 79910971 79910971 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:79910971G>A uc010wvg.1 - 11 1629 c.1357C>T c.(1357-1359)CGA>TGA p.R453* NM_178493 NP_848588 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog precursor 453 extracellular region hydrolase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) AACTGGTCTCGGACGGTGGGG 0.662 HEXDC 284004 broad.mit.edu 37 17 80399708 80399708 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:80399708G>A uc002kew.2 + 11 1247 c.1196G>A c.(1195-1197)CGC>CAC p.R399H HEXDC_uc002kev.3_Missense_Mutation_p.A429T|HEXDC_uc010diq.2_Silent_p.P401P|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 399 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) CCCTACCACCGCCAGCGGAAG 0.637 EPB41L3 23136 broad.mit.edu 37 18 5434086 5434086 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:5434086C>T uc002kmt.1 - 7 726 c.640G>A c.(640-642)GTG>ATG p.V214M EPB41L3_uc010wzh.1_Missense_Mutation_p.V214M|EPB41L3_uc002kmu.1_Missense_Mutation_p.V214M|EPB41L3_uc010dkq.1_Missense_Mutation_p.V105M|EPB41L3_uc010dks.1_Missense_Mutation_p.V236M|EPB41L3_uc002kmv.1_Missense_Mutation_p.V105M NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 214 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTTCCGGACACGATGTCATCT 0.542 TMEM200C 645369 broad.mit.edu 37 18 5890353 5890353 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:5890353C>T uc002kmx.1 - 1 1751 c.1710G>A c.(1708-1710)GCG>GCA p.A570A NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 570 integral to membrane 0 AGCTCTGCTCCGCACCCAGAA 0.647 LAMA1 284217 broad.mit.edu 37 18 6942091 6942091 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:6942091C>T uc002knm.2 - 63 9309 c.9215G>A c.(9214-9216)GGG>GAG p.G3072E LAMA1_uc002knk.2_Missense_Mutation_p.G402E|LAMA1_uc002knl.2_Missense_Mutation_p.G525E|LAMA1_uc010wzj.1_Missense_Mutation_p.G2548E NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 3072 axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACTCGGTCCCAGGACAGGA 0.443 KIAA0802 23255 broad.mit.edu 37 18 8825987 8825987 + Silent SNP G G A rs145849851 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:8825987G>A uc002knr.2 + 15 4621 c.4479G>A c.(4477-4479)TCG>TCA p.S1493S KIAA0802_uc002knq.2_Silent_p.S1452S|KIAA0802_uc002kns.2_Silent_p.S833S NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 1803 0 GAGGAAGGTCGCCTAGCCCCA 0.657 MC2R 4158 broad.mit.edu 37 18 13885437 13885437 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:13885437C>T uc002ksp.1 - 2 258 c.81G>A c.(79-81)CCG>CCA p.P27P NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 27 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) ATATCTCCTCCGGCAAAACCA 0.418 CABLES1 91768 broad.mit.edu 37 18 20833000 20833000 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:20833000A>G uc002kuc.2 + 8 1523 c.1523A>G c.(1522-1524)CAC>CGC p.H508R C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.H11R|CABLES1_uc002kud.2_Missense_Mutation_p.H243R NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 508 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAGTTTCCTCACATTAAGCTG 0.498 LAMA3 3909 broad.mit.edu 37 18 21500978 21500978 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:21500978G>C uc002kuq.2 + 61 8089 c.8003G>C c.(8002-8004)AGA>ACA p.R2668T LAMA3_uc002kur.2_Missense_Mutation_p.R2612T|LAMA3_uc002kus.3_Missense_Mutation_p.R1059T|LAMA3_uc002kut.3_Missense_Mutation_p.R1003T NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2668 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAAAAGAGAGAGGAGTTGGA 0.403 DSG3 1830 broad.mit.edu 37 18 29040826 29040826 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:29040826G>T uc002kws.2 + 7 824 c.715G>T c.(715-717)GGT>TGT p.G239C NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 239 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTTGTGAGTGGTGCAGACAA 0.338 SETBP1 26040 broad.mit.edu 37 18 42531485 42531485 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:42531485G>A uc010dni.2 + 4 2476 c.2180G>A c.(2179-2181)CGG>CAG p.R727Q NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 727 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GGCAAGAAGCGGGGCAGGAAG 0.582 Schinzel-Giedion_syndrome SLC14A1 6563 broad.mit.edu 37 18 43319189 43319189 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:43319189G>T uc010xcn.1 + 8 1044 c.725G>T c.(724-726)GGG>GTG p.G242V SLC14A1_uc010dnk.2_Missense_Mutation_p.G298V|SLC14A1_uc002lbf.3_Missense_Mutation_p.G242V|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.G137V|SLC14A1_uc002lbh.3_Missense_Mutation_p.G134V|SLC14A1_uc002lbi.3_Missense_Mutation_p.G110V|SLC14A1_uc002lbj.3_Missense_Mutation_p.G298V|SLC14A1_uc002lbk.3_Missense_Mutation_p.G242V NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 242 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CCATGGACAGGGGGCATTTTC 0.483 KIAA1632 57724 broad.mit.edu 37 18 43464743 43464743 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:43464743T>C uc002lbm.2 - 30 5243 c.5143A>G c.(5143-5145)AAA>GAA p.K1715E KIAA1632_uc010xcq.1_Missense_Mutation_p.K269E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K590E NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1715 autophagy 0 TCAAGTACTTTTCTGCACTCT 0.408 MALT1 10892 broad.mit.edu 37 18 56363666 56363666 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:56363666C>T uc002lhm.1 + 3 703 c.445C>T c.(445-447)CGG>TGG p.R149W MALT1_uc002lhn.1_Missense_Mutation_p.R149W NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 149 Ig-like C2-type 1. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 ACTGTGTTGCCGGGCAACTGG 0.308 T BIRC3 MALT SALL3 27164 broad.mit.edu 37 18 76755286 76755286 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:76755286G>T uc002lmt.2 + 2 3295 c.3295G>T c.(3295-3297)GCG>TCG p.A1099S SALL3_uc010dra.2_Missense_Mutation_p.A634S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1099 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCCGGGCCTGGCGCCCATGCT 0.736 CTDP1 9150 broad.mit.edu 37 18 77477647 77477647 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:77477647G>A uc002lnh.1 + 9 2328 c.2181G>A c.(2179-2181)CCG>CCA p.P727P CTDP1_uc002lni.1_Silent_p.P727P|CTDP1_uc010drd.1_Silent_p.P727P NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 727 BRCT. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) AGCTCTTCCCGCTCAGGGACG 0.642 PQLC1 80148 broad.mit.edu 37 18 77664150 77664150 + Silent SNP G G A rs142557456 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:77664150G>A uc002lnl.2 - 6 814 c.642C>T c.(640-642)GAC>GAT p.D214D PQLC1_uc010dre.2_Silent_p.D131D|PQLC1_uc002lnk.2_Silent_p.D196D|PQLC1_uc010xfm.1_Missense_Mutation_p.T124M NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 214 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) TCTTGAAGGCGTCACCACTGG 0.652 ZNF555 148254 broad.mit.edu 37 19 2853027 2853027 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:2853027A>G uc002lwo.2 + 4 1053 c.964A>G c.(964-966)AGT>GGT p.S322G ZNF555_uc002lwn.3_Missense_Mutation_p.S321G NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 322 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGGCCTTCAGTTATTCTTC 0.413 NCLN 56926 broad.mit.edu 37 19 3204636 3204636 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:3204636G>T uc002lxi.2 + 9 1249 c.1095G>T c.(1093-1095)GAG>GAT p.E365D NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.E10D NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 365 Lumenal (Potential). proteolysis|regulation of signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTGGCGGAGGACGTGCTGG 0.687 GIPC3 126326 broad.mit.edu 37 19 3586647 3586647 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:3586647C>T uc002lyd.3 + 2 407 c.380C>T c.(379-381)ACG>ATG p.T127M NM_133261 NP_573568 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 127 PDZ. breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CTGACCATCACGGACAACGGG 0.647 OREG0025154 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TJP3 27134 broad.mit.edu 37 19 3747982 3747982 + Missense_Mutation SNP C C G rs149440570 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:3747982C>G uc010xhv.1 + 18 2612 c.2612C>G c.(2611-2613)CCG>CGG p.P871R TJP3_uc010xhs.1_Missense_Mutation_p.P838R|TJP3_uc010xht.1_Missense_Mutation_p.P802R|TJP3_uc010xhu.1_Missense_Mutation_p.P847R|TJP3_uc010xhw.1_Missense_Mutation_p.P857R NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 852 tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GATGAGCCCCCGGCTCCAGCC 0.697 MPND 84954 broad.mit.edu 37 19 4345956 4345956 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:4345956C>T uc002mae.2 + 3 576 c.509C>T c.(508-510)ACG>ATG p.T170M MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.T170M|MPND_uc002maf.2_Missense_Mutation_p.T170M|MPND_uc002mah.2_Missense_Mutation_p.T58M|MPND_uc002mai.2_Missense_Mutation_p.T58M NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 170 peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCTGCACACGCCTGCCACG 0.632 TICAM1 148022 broad.mit.edu 37 19 4816266 4816266 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:4816266C>T uc002mbi.2 - 2 2375 c.2124G>A c.(2122-2124)ACG>ACA p.T708T NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 708 Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CTGCCTCCTGCGTCTTGTCCT 0.637 TICAM1 148022 broad.mit.edu 37 19 4818055 4818055 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:4818055G>A uc002mbi.2 - 2 586 c.335C>T c.(334-336)TCG>TTG p.S112L NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 112 apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GTCCCGCAGCGAGGCGGGGCA 0.687 MAP2K7 5609 broad.mit.edu 37 19 7975353 7975353 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:7975353G>A uc002mit.2 + 5 528 c.463G>A c.(463-465)GGG>AGG p.G155R MAP2K7_uc002miv.2_Missense_Mutation_p.G155R|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G155R|MAP2K7_uc010dvv.2_Missense_Mutation_p.G30R NM_145185 NP_660186 O14733 MP2K7_HUMAN mitogen-activated protein kinase kinase 7 155 Protein kinase. activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1) 11 Etoposide(DB00773) GCGGCGCTCCGGGAACAAGGA 0.632 FBN3 84467 broad.mit.edu 37 19 8153044 8153044 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:8153044G>A uc002mjf.2 - 51 6417 c.6396C>T c.(6394-6396)GTC>GTT p.V2132V FBN3_uc002mje.2_5'UTR NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2132 EGF-like 34; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 AGGGGTGGCCGACAGAGCACT 0.612 CD320 51293 broad.mit.edu 37 19 8367417 8367417 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:8367417C>T uc002mjj.1 - 5 844 c.779G>A c.(778-780)CGC>CAC p.R260H CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R218H NM_016579 NP_057663 Q9NPF0 CD320_HUMAN 8D6 antigen isoform 1 precursor 260 Cytoplasmic (Potential). regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity 0 CCCCAGTGGGCGGAGGCGCTC 0.622 MYO1F 4542 broad.mit.edu 37 19 8609255 8609255 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:8609255G>A uc002mkg.2 - 14 1564 c.1450C>T c.(1450-1452)CAG>TAG p.Q484* NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 484 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 ACAGCCGCCTGCAGCTTCTGC 0.677 MYO1F 4542 broad.mit.edu 37 19 8619539 8619539 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:8619539G>A uc002mkg.2 - 3 344 c.230C>T c.(229-231)GCG>GTG p.A77V MYO1F_uc002mkh.2_Missense_Mutation_p.A77V|MYO1F_uc010xkf.1_Missense_Mutation_p.A77V NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 77 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 CAGCCTCACCGCGCCCTGATA 0.627 MUC16 94025 broad.mit.edu 37 19 9071218 9071218 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:9071218C>T uc002mkp.2 - 3 16432 c.16228G>A c.(16228-16230)GCA>ACA p.A5410T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5412 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 TCTGTGTGTGCAGTGTCTTTG 0.502 PDE4A 5141 broad.mit.edu 37 19 10574506 10574506 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:10574506A>G uc002moj.2 + 14 1889 c.1781A>G c.(1780-1782)AAC>AGC p.N594S PDE4A_uc002mok.2_Missense_Mutation_p.N568S|PDE4A_uc002mol.2_Missense_Mutation_p.N533S|PDE4A_uc002mom.2_Missense_Mutation_p.N355S|PDE4A_uc002mon.2_Missense_Mutation_p.N49S|PDE4A_uc002moo.2_Missense_Mutation_p.N260S NM_001111307 NP_001104777 P27815 PDE4A_HUMAN phosphodiesterase 4A isoform 1 594 Catalytic. Binds AMP, but not cAMP (By similarity). signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) GACCTCAGCAACCCCACCAAG 0.617 ILF3 3609 broad.mit.edu 37 19 10787915 10787915 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:10787915C>A uc002mpn.2 + 5 805 c.488C>A c.(487-489)CCT>CAT p.P163H ILF3_uc002mpm.2_Missense_Mutation_p.P163H|ILF3_uc002mpl.2_Missense_Mutation_p.P163H|ILF3_uc002mpk.2_Missense_Mutation_p.P163H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.P163H|ILF3_uc002mpp.2_5'UTR NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 163 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) ACAAAAGAGCCTCCATTGTCC 0.458 DNM2 1785 broad.mit.edu 37 19 10883278 10883278 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:10883278T>C uc002mps.1 + 3 523 c.359T>C c.(358-360)ATC>ACC p.I120T DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120T|DNM2_uc002mpv.1_Missense_Mutation_p.I120T|DNM2_uc002mpu.1_Missense_Mutation_p.I120T|DNM2_uc010dxl.1_Missense_Mutation_p.I120T NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 120 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCAGTGCCCATCAACCTTCGA 0.552 LDLR 3949 broad.mit.edu 37 19 11216248 11216248 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:11216248C>T uc002mqk.3 + 4 834 c.666C>T c.(664-666)TGC>TGT p.C222C LDLR_uc010xlk.1_Silent_p.C222C|LDLR_uc010xll.1_Silent_p.C181C|LDLR_uc010xlm.1_Silent_p.C75C|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 222 LDL-receptor class A 5.|Extracellular (Potential). C -> Y (in FH). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GCCCCGACTGCAAGGACAAAT 0.642 DOCK6 57572 broad.mit.edu 37 19 11361640 11361640 + Silent SNP C C T rs114634227 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:11361640C>T uc002mqs.3 - 6 671 c.630G>A c.(628-630)GCG>GCA p.A210A NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 210 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CTTCTGGGGCCGCCCGCTCTA 0.662 ZNF136 7695 broad.mit.edu 37 19 12298640 12298640 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:12298640A>G uc002mti.2 + 4 1547 c.1447A>G c.(1447-1449)AAA>GAA p.K483E ZNF136_uc010xmh.1_Missense_Mutation_p.K417E NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 483 C2H2-type 13. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 GCGATGTGGTAAAGCCTTTAG 0.428 TNPO2 30000 broad.mit.edu 37 19 12822392 12822392 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:12822392G>A uc002muo.2 - 10 1111 c.926C>T c.(925-927)TCG>TTG p.S309L TNPO2_uc002mup.2_Missense_Mutation_p.S401L|TNPO2_uc002muq.2_Missense_Mutation_p.S309L|TNPO2_uc002mur.2_Missense_Mutation_p.S309L NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 309 HEAT 5. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 GTCAATTTCCGAGTACTTCAT 0.582 IL27RA 9466 broad.mit.edu 37 19 14161650 14161650 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:14161650G>A uc002mxx.2 + 11 1906 c.1483G>A c.(1483-1485)GCT>ACT p.A495T NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 495 Extracellular (Potential).|Fibronectin type-III 3. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 ATCTACCATCGCTGGACAGGG 0.592 SLC1A6 6511 broad.mit.edu 37 19 15061128 15061128 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:15061128C>T uc002naa.1 - 9 1582 c.1574G>A c.(1573-1575)CGG>CAG p.R525Q SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 525 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CTCCAGCTCCCGCTGAGACAA 0.612 MED26 9441 broad.mit.edu 37 19 16687986 16687986 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:16687986C>A uc002nen.1 - 3 916 c.655G>T c.(655-657)GGC>TGC p.G219C MED26_uc002nee.2_RNA NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 219 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 GGGATCTTGCCACTGTGCTTG 0.667 KIAA1683 80726 broad.mit.edu 37 19 18368002 18368002 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:18368002C>T uc002nin.2 - 4 3747 c.3531G>A c.(3529-3531)TGG>TGA p.W1177* PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Nonsense_Mutation_p.W1364*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.W1131*|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 1177 mitochondrion ovary(2) 2 AGATGCCAGGCCAATGCATGT 0.597 GATAD2A 54815 broad.mit.edu 37 19 19609358 19609358 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:19609358G>A uc010xqt.1 + 8 1343 c.1031G>A c.(1030-1032)CGA>CAA p.R344Q GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Missense_Mutation_p.R363Q|GATAD2A_uc010xqw.1_Missense_Mutation_p.R171Q NM_017660 NP_060130 Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 344 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CCAGCAAGCCGACAGGCGGCC 0.647 GMIP 51291 broad.mit.edu 37 19 19747534 19747534 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:19747534A>C uc002nnd.2 - 13 1426 c.1309T>G c.(1309-1311)TCA>GCA p.S437A GMIP_uc010xrb.1_Missense_Mutation_p.S437A|GMIP_uc010xrc.1_Missense_Mutation_p.S434A NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 437 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GAAGTGGGTGAGTCCAGGGAC 0.627 ZNF254 9534 broad.mit.edu 37 19 24289419 24289419 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:24289419G>A uc002nru.2 + 3 361 c.227G>A c.(226-228)CGA>CAA p.R76Q ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 76 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AATATGAAGCGACATGAGATG 0.423 CHST8 64377 broad.mit.edu 37 19 34263835 34263835 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:34263835C>T uc002nus.3 + 5 1647 c.1142C>T c.(1141-1143)GCG>GTG p.A381V CHST8_uc002nut.3_Missense_Mutation_p.A381V|CHST8_uc002nuu.2_Missense_Mutation_p.A381V NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 381 Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) TCGCAGGAGGCGCGGACCACA 0.612 ARHGAP33 115703 broad.mit.edu 37 19 36279044 36279044 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:36279044C>A uc002obs.1 + 21 3179 c.3094C>A c.(3094-3096)CCC>ACC p.P1032T ARHGAP33_uc002obt.1_Missense_Mutation_p.P1029T|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.P781T NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1193 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TCCTGCCCACCCCCGAAGCCG 0.687 LRFN3 79414 broad.mit.edu 37 19 36430878 36430878 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:36430878C>T uc002oco.2 + 2 1003 c.551C>T c.(550-552)ACG>ATG p.T184M NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 184 Extracellular (Potential).|LRR 6. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AACGTCAACACGTTGGGCCTC 0.652 SIPA1L3 23094 broad.mit.edu 37 19 38573489 38573489 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:38573489G>A uc002ohk.2 + 3 1793 c.1284G>A c.(1282-1284)CCG>CCA p.P428P NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 428 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCAGCTGCCCGCACTTCCGCA 0.647 IL28B 282617 broad.mit.edu 37 19 39734753 39734753 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:39734753C>T uc010xut.1 - 3 307 c.303G>A c.(301-303)ACG>ACA p.T101T IL28B_uc010xuu.1_Silent_p.T101T NM_172139 NP_742151 Q8IZI9 IL28B_HUMAN interleukin 28B 101 response to virus extracellular space cytokine activity 0 all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315) Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GAACCTTCAGCGTCAGGGCCA 0.488 SAMD4B 55095 broad.mit.edu 37 19 39847579 39847579 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:39847579G>T uc002olb.2 + 5 1081 c.46G>T c.(46-48)GGC>TGC p.G16C SAMD4B_uc002ola.2_Missense_Mutation_p.G16C NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 16 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTGGTTCAAAGGCTGGAATGA 0.662 SAMD4B 55095 broad.mit.edu 37 19 39868230 39868230 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:39868230G>A uc002olb.2 + 10 2245 c.1210G>A c.(1210-1212)GCC>ACC p.A404T SAMD4B_uc002ola.2_Missense_Mutation_p.A404T NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 404 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CGTGGCTGCCGCCACCACCAC 0.657 PRX 57716 broad.mit.edu 37 19 40900053 40900053 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:40900053G>A uc002onr.2 - 7 4475 c.4206C>T c.(4204-4206)CCC>CCT p.P1402P PRX_uc002onq.2_Silent_p.P1263P|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1402 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTCTCTGACGGGGGACTTGG 0.692 PRX 57716 broad.mit.edu 37 19 40901223 40901223 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:40901223G>A uc002onr.2 - 7 3305 c.3036C>T c.(3034-3036)GCC>GCT p.A1012A PRX_uc002onq.2_Silent_p.A873A|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1012 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTTGAGGTCGGCCCCTGCCA 0.652 SPTBN4 57731 broad.mit.edu 37 19 41066148 41066148 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:41066148G>T uc002ony.2 + 27 5840 c.5754G>T c.(5752-5754)CAG>CAT p.Q1918H SPTBN4_uc002onx.2_Missense_Mutation_p.Q1918H|SPTBN4_uc002onz.2_Missense_Mutation_p.Q1918H|SPTBN4_uc010egx.2_Missense_Mutation_p.Q661H|SPTBN4_uc002ooa.2_Missense_Mutation_p.Q594H NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1918 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCGGGAGCAGGAGGTGCTGC 0.667 CCDC97 90324 broad.mit.edu 37 19 41822576 41822576 + Missense_Mutation SNP C C T rs142783394 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:41822576C>T uc002oqg.2 + 2 456 c.334C>T c.(334-336)CGC>TGC p.R112C CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 112 0 GGAGCGCTTCCGCACAGGCCT 0.637 ZNF574 64763 broad.mit.edu 37 19 42584249 42584249 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42584249C>T uc002osm.3 + 2 1660 c.1491C>T c.(1489-1491)TGC>TGT p.C497C ZNF574_uc002osk.3_Silent_p.C587C NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 497 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GCCATAAATGCAGCATTTGTG 0.592 ZNF574 64763 broad.mit.edu 37 19 42584642 42584642 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42584642G>T uc002osm.3 + 2 2053 c.1884G>T c.(1882-1884)GTG>GTT p.V628V ZNF574_uc002osk.3_Silent_p.V718V NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 628 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) ACCAGCTCGTGGTCCATGCCG 0.682 ZNF526 116115 broad.mit.edu 37 19 42729572 42729572 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42729572G>T uc002osz.1 + 3 1173 c.1017G>T c.(1015-1017)AAG>AAT p.K339N NM_133444 NP_597701 Q8TF50 ZN526_HUMAN zinc finger protein 526 339 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0704) CCTGCTCCAAGGTCTTCAAGA 0.607 CIC 23152 broad.mit.edu 37 19 42794850 42794850 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42794850G>T uc002otf.1 + 10 1970 c.1930G>T c.(1930-1932)GGA>TGA p.G644* NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 644 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) AGAGGGCGGCGGAGCCAGAGT 0.692 T DUX4 soft tissue sarcoma CIC 23152 broad.mit.edu 37 19 42795222 42795222 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42795222C>A uc002otf.1 + 10 2342 c.2302C>A c.(2302-2304)CCG>ACG p.P768T NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 768 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) GGTGGGCACCCCGGGGTATGG 0.697 T DUX4 soft tissue sarcoma PAFAH1B3 5050 broad.mit.edu 37 19 42801471 42801471 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42801471T>C uc002otg.2 - 5 790 c.455A>G c.(454-456)AAC>AGC p.N152S PAFAH1B3_uc010xwi.1_Missense_Mutation_p.N152S|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.N152S NM_002573 NP_002564 Q15102 PA1B3_HUMAN platelet-activating factor acetylhydrolase, 152 lipid catabolic process|nervous system development cytoplasm 1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding 0 Prostate(69;0.0704) CACCTGTCGGTTCTTCTCCCG 0.587 LIPE 3991 broad.mit.edu 37 19 42910455 42910455 + Silent SNP G G A rs141921519 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42910455G>A uc002otr.2 - 7 2500 c.2223C>T c.(2221-2223)TAC>TAT p.Y741Y uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 741 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CCCGCACCCCGTAGGCTGCTG 0.662 CXCL17 284340 broad.mit.edu 37 19 42938009 42938009 + Splice_Site SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:42938009C>A uc002otu.2 - 2 232 c.80_splice c.e2-1 p.G27_splice uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron NM_198477 NP_940879 Q6UXB2 VCC1_HUMAN chemokine (C-X-C motif) ligand 17 precursor angiogenesis|cell differentiation|chemotaxis extracellular region 0 Prostate(69;0.00899) CTGGCGACCCCTGTCGGAAGG 0.527 OREG0025504 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF296 162979 broad.mit.edu 37 19 45575370 45575370 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:45575370G>A uc002pao.2 - 3 974 c.917C>T c.(916-918)CCG>CTG p.P306L NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 306 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGGACAGCCGGCTCCGGAGG 0.706 PPP1R13L 10848 broad.mit.edu 37 19 45899679 45899679 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:45899679C>T uc002pbn.2 - 5 805 c.728G>A c.(727-729)CGC>CAC p.R243H PPP1R13L_uc002pbo.2_Missense_Mutation_p.R243H|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R243H NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 243 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGGCCGCCGGCGCAGCGTCAG 0.652 OPA3 80207 broad.mit.edu 37 19 46088007 46088007 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:46088007A>C uc002pck.3 - 1 116 c.16T>G c.(16-18)TTC>GTC p.F6V OPA3_uc002pcj.3_Missense_Mutation_p.F6V|OPA3_uc010xxk.1_Intron NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 6 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCCATAGGGAACGCGCCCACC 0.642 QPCTL 54814 broad.mit.edu 37 19 46205129 46205129 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:46205129C>T uc010xxr.1 + 6 1181 c.960C>T c.(958-960)CCC>CCT p.P320P QPCTL_uc010ekn.2_Silent_p.P226P NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 320 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) CCGGGGAGCCCTTTGGCTCTG 0.577 DMWD 1762 broad.mit.edu 37 19 46289676 46289676 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:46289676C>T uc002pdj.1 - 3 1124 c.1078G>A c.(1078-1080)GTG>ATG p.V360M DMWD_uc002pdk.1_Missense_Mutation_p.V360M|DMWD_uc010eko.1_Missense_Mutation_p.V45M NM_004943 NP_004934 Q09019 DMWD_HUMAN dystrophia myotonica-containing WD repeat motif 360 WD 3. meiosis 0 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CGAGCCACCACGCGGCCCTCG 0.667 STRN4 29888 broad.mit.edu 37 19 47242056 47242056 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:47242056C>T uc002pfl.2 - 2 405 c.372G>A c.(370-372)GCG>GCA p.A124A STRN4_uc002pfm.2_Silent_p.A124A|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 124 Potential. cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CCTGCTTCAGCGCATACTCTA 0.607 EHD2 30846 broad.mit.edu 37 19 48239678 48239678 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:48239678G>T uc002phj.3 + 5 1218 c.968G>T c.(967-969)GGG>GTG p.G323V EHD2_uc010xyu.1_Missense_Mutation_p.G187V|EHD2_uc010xyv.1_Missense_Mutation_p.G6V NM_014601 NP_055416 Q9NZN4 EHD2_HUMAN EH-domain containing 2 323 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding ovary(1)|skin(1) 2 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) TCTGTGTTTGGGAAGGAGAAC 0.408 TULP2 7288 broad.mit.edu 37 19 49391480 49391480 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:49391480A>G uc002pkz.2 - 8 826 c.675T>C c.(673-675)TCT>TCC p.S225S NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 225 visual perception cytoplasm|extracellular region ovary(1)|kidney(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) TCGTCCCTGTAGACTCAGAGG 0.552 PRMT1 3276 broad.mit.edu 37 19 50191485 50191485 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:50191485G>A uc010enf.1 + 11 1141 c.1099G>A c.(1099-1101)GAC>AAC p.D367N CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.D343N|PRMT1_uc002ppe.2_Missense_Mutation_p.D349N|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.D314N|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 348 cytoplasm protein methyltransferase activity ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CTGCTCCACCGACTACCGGAT 0.687 SPIB 6689 broad.mit.edu 37 19 50926143 50926143 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:50926143C>T uc002psd.2 + 4 213 c.188C>T c.(187-189)CCG>CTG p.P63L SPIB_uc002pse.2_Missense_Mutation_p.P63L|SPIB_uc010ycc.1_Intron NM_003121 NP_003112 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 63 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding lung(1)|kidney(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GCCTTCGACCCGGCAGCAGCC 0.657 LRRC4B 94030 broad.mit.edu 37 19 51021443 51021443 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:51021443C>T uc002pss.2 - 3 1664 c.1527G>A c.(1525-1527)ACG>ACA p.T509T NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 509 Gly-rich.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GTTCCTTCTCCGTCCCCCGCG 0.642 SYT3 84258 broad.mit.edu 37 19 51129177 51129177 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:51129177G>A uc002pst.2 - 5 2013 c.1379C>T c.(1378-1380)GCG>GTG p.A460V SYT3_uc002psv.2_Missense_Mutation_p.A460V|SYT3_uc010ycd.1_Missense_Mutation_p.A460V NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 460 C2 2.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GAGGTCCATCGCTTTGAGGTT 0.373 ZNF175 7728 broad.mit.edu 37 19 52091581 52091581 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:52091581C>T uc002pxb.2 + 5 2375 c.1997C>T c.(1996-1998)ACG>ATG p.T666M uc002pxc.1_5'Flank NM_007147 NP_009078 Q9Y473 ZN175_HUMAN zinc finger protein 175 666 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CGAATTCACACGGGAGAAAGA 0.423 FPR3 2359 broad.mit.edu 37 19 52327888 52327888 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:52327888G>A uc002pxt.1 + 2 1071 c.887G>A c.(886-888)TGC>TAC p.C296Y NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 296 Helical; Name=7; (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 TTTAACAGCTGCCTCAACCCA 0.448 VSTM1 284415 broad.mit.edu 37 19 54545207 54545207 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:54545207T>C uc002qcw.3 - 7 692 c.516A>G c.(514-516)AGA>AGG p.R172R VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.R141R NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 172 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AATGGCTGGTTCTGAAAGAGA 0.368 VSTM1 284415 broad.mit.edu 37 19 54561722 54561722 + Missense_Mutation SNP C C T rs144159930 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:54561722C>T uc002qcw.3 - 3 369 c.193G>A c.(193-195)GAC>AAC p.D65N VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.D65N NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 65 Ig-like V-type. integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) TACCCAGAGTCGTTCACCTTG 0.547 BRSK1 84446 broad.mit.edu 37 19 55816953 55816953 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:55816953C>T uc002qkg.2 + 16 2166 c.1889C>T c.(1888-1890)TCG>TTG p.S630L BRSK1_uc002qkf.2_Missense_Mutation_p.S646L|BRSK1_uc002qkh.2_Missense_Mutation_p.S325L NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 630 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCCTTTCTGTCGGTGAGGGGC 0.557 FIZ1 84922 broad.mit.edu 37 19 56109101 56109101 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:56109101C>T uc002qli.3 - 2 221 c.131G>A c.(130-132)CGG>CAG p.R44Q FIZ1_uc002qlj.3_Missense_Mutation_p.R44Q|ZNF524_uc002qlk.1_5'Flank NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 44 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CGCTGTGTGCCGGGCAAAGTG 0.677 ZNF835 90485 broad.mit.edu 37 19 57176405 57176405 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:57176405G>A uc010ygo.1 - 2 228 c.228C>T c.(226-228)CGC>CGT p.R76R ZNF835_uc010ygn.1_Silent_p.R54R NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 TGAATTCATCGCGTTCCTGCA 0.627 ZSCAN1 284312 broad.mit.edu 37 19 58565232 58565232 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:58565232C>A uc002qrc.1 + 6 1287 c.1040C>A c.(1039-1041)CCG>CAG p.P347Q NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 347 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CTGGAGCCACCGAGGAAGAAA 0.667 ZNF135 7694 broad.mit.edu 37 19 58574899 58574899 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:58574899C>T uc010yhq.1 + 4 342 c.246C>T c.(244-246)GGC>GGT p.G82G ZNF135_uc002qre.2_Silent_p.G82G|ZNF135_uc002qrd.1_Silent_p.G40G|ZNF135_uc002qrf.2_Silent_p.G40G|ZNF135_uc002qrg.2_Silent_p.G40G|ZNF135_uc010yhr.1_5'UTR NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 82 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) TTCCCCAAGGCGTGTACCCAG 0.567 ZSCAN22 342945 broad.mit.edu 37 19 58846408 58846408 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:58846408C>T uc002qsc.2 + 2 387 c.240C>T c.(238-240)CCC>CCT p.P80P ZSCAN22_uc010yhz.1_Silent_p.P80P NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 80 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) GGCTGCAGCCCGAGGCGCACT 0.667 ZSCAN22 342945 broad.mit.edu 37 19 58846467 58846467 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:58846467C>T uc002qsc.2 + 2 446 c.299C>T c.(298-300)GCG>GTG p.A100V ZSCAN22_uc010yhz.1_Missense_Mutation_p.A100V NM_181846 NP_862829 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 100 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1) 1 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) TTCCTGGGTGCGCTGCCCCCA 0.652 ZNF132 7691 broad.mit.edu 37 19 58945306 58945306 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:58945306A>G uc002qst.3 - 3 1906 c.1505T>C c.(1504-1506)CTC>CCC p.L502P NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 502 C2H2-type 11. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) GTGCTGGATGAGGGTGGAGCT 0.498 SH3YL1 26751 broad.mit.edu 37 2 231124 231124 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:231124C>T uc002qvx.2 - 7 685 c.601G>A c.(601-603)GAA>AAA p.E201K SH3YL1_uc002qvy.2_Missense_Mutation_p.E201K|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvw.2_RNA NM_015677 NP_056492 Q96HL8 SH3Y1_HUMAN SH3 domain containing, Ysc84-like 1 isoform 1 201 ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) TAAAGATCTTCGGCTTGAGCA 0.343 SH3YL1 26751 broad.mit.edu 37 2 234203 234203 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:234203T>C uc002qvx.2 - 5 445 c.361A>G c.(361-363)ACC>GCC p.T121A SH3YL1_uc002qvy.2_Missense_Mutation_p.T121A|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvw.2_RNA NM_015677 NP_056492 Q96HL8 SH3Y1_HUMAN SH3 domain containing, Ysc84-like 1 isoform 1 121 ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) CCTCCGAGGGTCAGATTTCCG 0.398 TMEM18 129787 broad.mit.edu 37 2 669841 669841 + Silent SNP C C T rs145340899 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:669841C>T uc002qwl.2 - 4 337 c.243G>A c.(241-243)TCG>TCA p.S81S TMEM18_uc002qwk.2_RNA NM_152834 NP_690047 Q96B42 TMM18_HUMAN transmembrane protein 18 81 cell migration integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253) all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285) ACTGGTATTTCGAAAATAATC 0.368 TPO 7173 broad.mit.edu 37 2 1491615 1491615 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:1491615A>G uc002qww.2 + 10 1711 c.1620A>G c.(1618-1620)CGA>CGG p.R540R TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.R540R|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.R367R|TPO_uc010yip.1_Silent_p.R540R|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 540 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CACTAATACGAGGCCTTCTTG 0.473 ITGB1BP1 9270 broad.mit.edu 37 2 9547005 9547005 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:9547005T>C uc002qzj.2 - 7 738 c.561A>G c.(559-561)TTA>TTG p.L187L ITGB1BP1_uc002qzk.2_Silent_p.L137L|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Silent_p.L143L|ITGB1BP1_uc002qzn.1_3'UTR NM_004763 NP_004754 O14713 ITBP1_HUMAN integrin cytoplasmic domain-associated protein 1 187 PID. cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding|protein binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) AAGCGGTGGATAAAACCTTGC 0.388 GREB1 9687 broad.mit.edu 37 2 11706632 11706632 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:11706632C>T uc002rbk.1 + 4 604 c.304C>T c.(304-306)CGC>TGC p.R102C GREB1_uc002rbl.2_Missense_Mutation_p.R102C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.R102C NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 102 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GAAGGACCTGCGCCTTGTCTC 0.647 GREB1 9687 broad.mit.edu 37 2 11733023 11733023 + Silent SNP G G A rs148777088 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:11733023G>A uc002rbk.1 + 11 1767 c.1467G>A c.(1465-1467)GCG>GCA p.A489A GREB1_uc002rbo.1_Silent_p.A123A NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 489 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCCGCCCGCGCCCAGCGCCG 0.711 NTSR2 23620 broad.mit.edu 37 2 11802192 11802192 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:11802192C>T uc002rbq.3 - 2 873 c.799G>A c.(799-801)GTA>ATA p.V267I NM_012344 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 267 Cytoplasmic (Potential). sensory perception integral to plasma membrane 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) TTCTTCCATACGATGAAGCTG 0.632 DNAJC27 51277 broad.mit.edu 37 2 25180758 25180758 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:25180758G>A uc002rft.1 - 4 377 c.326C>T c.(325-327)GCG>GTG p.A109V DNAJC27_uc010ykn.1_Missense_Mutation_p.A38V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.A109V NM_016544 NP_057628 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 109 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding skin(1) 1 TGCCAGCCACGCATCAAGGGC 0.433 KHK 3795 broad.mit.edu 37 2 27322109 27322109 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:27322109G>A uc002ril.2 + 6 1127 c.610G>A c.(610-612)GCA>ACA p.A204T KHK_uc002rim.2_Missense_Mutation_p.A204T|KHK_uc002rin.2_Missense_Mutation_p.A205T|KHK_uc002rio.2_Missense_Mutation_p.A120T|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR NM_000221 NP_000212 P50053 KHK_HUMAN ketohexokinase isoform a 204 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTTCCAGTCAGCAGAGGAAGC 0.547 FOSL2 2355 broad.mit.edu 37 2 28627104 28627104 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:28627104G>A uc002rma.2 + 2 1042 c.233G>A c.(232-234)CGC>CAC p.R78H FOSL2_uc010ymi.1_Missense_Mutation_p.R39H NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 78 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) CCATACCCTCGCTCGCACCCC 0.632 YIPF4 84272 broad.mit.edu 37 2 32517418 32517418 + Splice_Site SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:32517418G>A uc002rok.2 + 3 672 c.405_splice c.e3+1 p.R135_splice NM_032312 NP_115688 Q9BSR8 YIPF4_HUMAN Yip1 domain family, member 4 endoplasmic reticulum|integral to membrane protein binding 0 Acute lymphoblastic leukemia(172;0.155) ACAGTTTAGGGTAAGTATATC 0.279 LTBP1 4052 broad.mit.edu 37 2 33487839 33487839 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:33487839C>A uc002ros.2 + 14 2469 c.2469C>A c.(2467-2469)CCC>CCA p.P823P LTBP1_uc002rot.2_Silent_p.P497P|LTBP1_uc002rou.2_Silent_p.P497P|LTBP1_uc002rov.2_Silent_p.P444P|LTBP1_uc010ymz.1_Silent_p.P497P|LTBP1_uc010yna.1_Silent_p.P444P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 823 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGGTCAACCCCAGCTGTCTC 0.383 HEATR5B 54497 broad.mit.edu 37 2 37310522 37310522 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:37310522T>C uc002rpp.1 - 2 132 c.36A>G c.(34-36)GAA>GAG p.E12E CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 12 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GAGCCAAAGCTTCTTCATTTA 0.338 THUMPD2 80745 broad.mit.edu 37 2 39988502 39988502 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:39988502G>A uc002rru.2 - 6 897 c.860C>T c.(859-861)GCG>GTG p.A287V THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A178V|THUMPD2_uc010ynu.1_3'UTR NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 287 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) CATTGCCCACGCTATTGTAGA 0.373 SLC8A1 6546 broad.mit.edu 37 2 40656816 40656816 + Missense_Mutation SNP C C T rs150791349 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:40656816C>T uc002rrx.2 - 1 629 c.605G>A c.(604-606)CGT>CAT p.R202H SLC8A1_uc002rry.2_Missense_Mutation_p.R202H|SLC8A1_uc002rrz.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsa.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsd.3_Missense_Mutation_p.R202H|SLC8A1_uc002rsb.1_Missense_Mutation_p.R202H|SLC8A1_uc010fan.1_Missense_Mutation_p.R202H|SLC8A1_uc002rsc.1_Missense_Mutation_p.R202H NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 202 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AAAGAAGACACGCAAATGCTT 0.458 EML4 27436 broad.mit.edu 37 2 42490379 42490379 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:42490379C>T uc002rsi.2 + 5 836 c.574C>T c.(574-576)CGT>TGT p.R192C EML4_uc010fap.2_Missense_Mutation_p.R134C NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 192 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 AGATGATAGCCGTAATAAATT 0.323 T ALK NSCLC SRBD1 55133 broad.mit.edu 37 2 45826872 45826872 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:45826872C>T uc002rus.2 - 4 440 c.364G>A c.(364-366)GCG>ACG p.A122T NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 122 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TGTGGCTGCGCTGCACATTTC 0.413 PRKCE 5581 broad.mit.edu 37 2 46378289 46378289 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:46378289A>G uc002rut.2 + 13 2038 c.1841A>G c.(1840-1842)GAC>GGC p.D614G NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 614 Protein kinase. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) AATGAGGACGACCTATTTGAG 0.587 FOXN2 3344 broad.mit.edu 37 2 48602066 48602066 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:48602066G>T uc002rwh.1 + 7 1095 c.780G>T c.(778-780)AAG>AAT p.K260N NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 260 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CAGGTGAGAAGCCTCTTCCTC 0.373 ASB3 51130 broad.mit.edu 37 2 53927512 53927512 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:53927512A>G uc002rxg.1 - 8 1269 c.1134T>C c.(1132-1134)TAT>TAC p.Y378Y ASB3_uc002rxh.1_Silent_p.Y305Y|ASB3_uc002rxi.3_Silent_p.Y416Y|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 378 intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTACAAATTCATATATATGGT 0.383 MTIF2 4528 broad.mit.edu 37 2 55467153 55467153 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:55467153G>T uc002ryn.2 - 15 2601 c.1864C>A c.(1864-1866)CCA>ACA p.P622T MTIF2_uc010yox.1_Missense_Mutation_p.P291T|MTIF2_uc002ryo.2_Missense_Mutation_p.P622T NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 622 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TCACCTACTGGGTGCTCTTCC 0.353 MTIF2 4528 broad.mit.edu 37 2 55470699 55470699 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:55470699C>T uc002ryn.2 - 13 2154 c.1417G>A c.(1417-1419)GCA>ACA p.A473T MTIF2_uc010yox.1_Missense_Mutation_p.A142T|MTIF2_uc002ryo.2_Missense_Mutation_p.A473T NM_001005369 NP_001005369 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 473 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity ovary(1) 1 TTCTGATGTGCTTCTTTGTGT 0.398 BMP10 27302 broad.mit.edu 37 2 69092787 69092787 + Silent SNP G G A rs146375788 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:69092787G>A uc002sez.1 - 2 1410 c.1251C>T c.(1249-1251)GCC>GCT p.A417A NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 417 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 ATTCGGAGACGGCCATGCCTT 0.403 ALMS1 7840 broad.mit.edu 37 2 73675218 73675218 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:73675218G>A uc002sje.1 + 9 1675 c.1564G>A c.(1564-1566)GCT>ACT p.A522T ALMS1_uc002sjf.1_Missense_Mutation_p.A479T|ALMS1_uc002sjg.2_5'UTR|ALMS1_uc002sjh.1_5'UTR NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 521 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GTCTCAGTTGGCTGTAAGTTC 0.418 MOGS 7841 broad.mit.edu 37 2 74689115 74689115 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:74689115G>A uc010ffj.2 - 4 1964 c.1801C>T c.(1801-1803)CGA>TGA p.R601* MOGS_uc010ffh.2_Nonsense_Mutation_p.R326*|MOGS_uc010yrt.1_Nonsense_Mutation_p.R482*|MOGS_uc010ffi.2_Nonsense_Mutation_p.R495* NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 601 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 ACCCAACATCGCAGGTCCAGG 0.632 TLX2 3196 broad.mit.edu 37 2 74742968 74742968 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:74742968G>A uc002smb.1 + 2 932 c.609G>A c.(607-609)ACG>ACA p.T203T TLX2_uc002sma.1_Missense_Mutation_p.V74M NM_016170 NP_057254 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 203 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGGTCAAAACGTGGTTCCAGA 0.701 C2orf3 6936 broad.mit.edu 37 2 75929496 75929496 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:75929496C>T uc002sno.2 - 3 578 c.448G>A c.(448-450)GCC>ACC p.A150T C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_5'UTR|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.A150T NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 150 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TGGGCCCTGGCCAATTCACGT 0.453 GNLY 10578 broad.mit.edu 37 2 85924730 85924730 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:85924730C>T uc002sql.3 + 4 485 c.357C>T c.(355-357)ACC>ACT p.T119T GNLY_uc010fgp.2_Silent_p.T104T|GNLY_uc010ysx.1_Silent_p.T146T NM_006433 NP_006424 P22749 GNLY_HUMAN granulysin isoform NKG5 119 Saposin B-type. cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 CTAGAGTTACCCAGGGCCTCG 0.557 REV1 51455 broad.mit.edu 37 2 100079006 100079006 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:100079006A>G uc002tad.2 - 3 345 c.133T>C c.(133-135)TCA>CCA p.S45P REV1_uc002tac.2_Missense_Mutation_p.S45P|REV1_uc002tae.1_Missense_Mutation_p.S24P NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 45 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 ATTGTAGATGAAGTCCCATCC 0.378 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage MALL 7851 broad.mit.edu 37 2 110849314 110849314 + Missense_Mutation SNP C C T rs141817647 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:110849314C>T uc002tfk.2 - 2 913 c.139G>A c.(139-141)GCC>ACC p.A47T MALL_uc010fju.2_Intron NM_005434 NP_005425 Q13021 MALL_HUMAN mal, T-cell differentiation protein-like 47 MARVEL. cholesterol homeostasis clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane protein binding ovary(1)|skin(1) 2 Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18) ATGTGGGTGGCGGCTACCATG 0.468 FBLN7 129804 broad.mit.edu 37 2 112940452 112940452 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:112940452G>A uc002tho.1 + 6 1026 c.755G>A c.(754-756)CGT>CAT p.R252H FBLN7_uc002thn.2_Missense_Mutation_p.R252H|FBLN7_uc010fki.1_Missense_Mutation_p.R206H|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 252 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 GGCTCTTACCGTTGCACCTGC 0.642 RGPD5 84220 broad.mit.edu 37 2 113147664 113147664 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:113147664C>T uc002ths.1 - 20 2935 c.2858G>A c.(2857-2859)GGC>GAC p.G953D RGPD8_uc010fkk.1_Missense_Mutation_p.G813D|RGPD5_uc002tht.1_Missense_Mutation_p.G204D NM_005054 NP_005045 Q99666 RGPD5_HUMAN RANBP2-like and GRIP domain containing 5 isoform 953 intracellular transport cytoplasm binding 0 CTTCTTCCGGCCCCTAATATC 0.418 INSIG2 51141 broad.mit.edu 37 2 118854319 118854319 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:118854319A>T uc002tlk.2 + 2 393 c.187A>T c.(187-189)ATT>TTT p.I63F INSIG2_uc010yye.1_Intron NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 63 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 ACCTGATGTGATTGCAAGCAT 0.413 RALB 5899 broad.mit.edu 37 2 121036293 121036293 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:121036293T>C uc002tmk.2 + 2 243 c.53T>C c.(52-54)ATC>ACC p.I18T RALB_uc010yys.1_Missense_Mutation_p.I40T|RALB_uc002tml.2_Missense_Mutation_p.I18T|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_RNA NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 18 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) CACAAGGTGATCATGGTTGGC 0.562 AMMECR1L 83607 broad.mit.edu 37 2 128631753 128631753 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:128631753C>T uc002tpl.2 - 3 307 c.56G>A c.(55-57)TGT>TAT p.C19Y AMMECR1L_uc002tpm.2_Missense_Mutation_p.C19Y NM_031445 NP_113633 Q6DCA0 AMERL_HUMAN AMME chromosomal region gene 1-like 19 central_nervous_system(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.07) CTTGACCCCACAACAGCCTGC 0.522 TUBA3E 112714 broad.mit.edu 37 2 130951399 130951399 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:130951399C>T uc002tqv.2 - 4 1117 c.1016G>A c.(1015-1017)CGC>CAC p.R339H NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 339 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CTGGATAGTGCGCTTGGTCTT 0.547 NCKAP5 344148 broad.mit.edu 37 2 133540780 133540780 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:133540780T>C uc002ttp.2 - 14 3978 c.3604A>G c.(3604-3606)ACA>GCA p.T1202A NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1202 protein binding 0 TCACCCGCTGTGATCTCCATG 0.478 NCKAP5 344148 broad.mit.edu 37 2 133541060 133541060 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:133541060A>G uc002ttp.2 - 14 3698 c.3324T>C c.(3322-3324)AAT>AAC p.N1108N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1108 Ser-rich. protein binding 0 ATGGTGACTCATTTACCCCTA 0.493 NCKAP5 344148 broad.mit.edu 37 2 133542959 133542959 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:133542959G>A uc002ttp.2 - 14 1799 c.1425C>T c.(1423-1425)CAC>CAT p.H475H NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 475 protein binding 0 CCGCATCAACGTGGGAATCTA 0.517 R3HDM1 23518 broad.mit.edu 37 2 136399316 136399316 + Missense_Mutation SNP C C T rs147536237 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:136399316C>T uc002tuo.2 + 15 1800 c.1430C>T c.(1429-1431)GCG>GTG p.A477V R3HDM1_uc010fni.2_Missense_Mutation_p.A475V|R3HDM1_uc002tup.2_Missense_Mutation_p.A421V|R3HDM1_uc010zbh.1_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 477 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CCCTTGGAAGCGGCAGGCATA 0.433 LRP1B 53353 broad.mit.edu 37 2 141232708 141232708 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:141232708T>G uc002tvj.1 - 60 10596 c.9624A>C c.(9622-9624)AAA>AAC p.K3208N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3208 Extracellular (Potential).|LDL-receptor class B 31. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGACCAACCTTTGTGTCTAT 0.294 TSP Lung(27;0.18) ACVR2A 92 broad.mit.edu 37 2 148684693 148684693 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:148684693C>T uc002twg.2 + 12 1661 c.1392C>T c.(1390-1392)CAC>CAT p.H464H ACVR2A_uc010zbn.1_Silent_p.H356H|ACVR2A_uc002twh.2_Silent_p.H464H NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 464 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) GTTGGGATCACGACGCAGAAG 0.408 MBD5 55777 broad.mit.edu 37 2 149216410 149216410 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:149216410G>A uc002twm.3 + 6 1071 c.83G>A c.(82-84)CGT>CAT p.R28H MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.R28H NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 28 MBD. chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) TGGCAGCGTCGTGTGGATCAA 0.468 EVX2 344191 broad.mit.edu 37 2 176948411 176948411 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:176948411C>T uc010zeu.1 - 1 280 c.94G>A c.(94-96)GCT>ACT p.A32T NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 32 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) GCATTGCCAGCCGAGTTGGAC 0.577 HOXD3 3232 broad.mit.edu 37 2 177036309 177036309 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:177036309G>A uc002ukt.1 + 3 782 c.606G>A c.(604-606)ACG>ACA p.T202T NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 202 Homeobox. anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CGGCATACACGAGCGCGCAGC 0.637 TTN 7273 broad.mit.edu 37 2 179419291 179419291 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179419291T>C uc010zfg.1 - 281 81303 c.81079A>G c.(81079-81081)ACC>GCC p.T27027A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20722A|TTN_uc010zfi.1_Missense_Mutation_p.T20655A|TTN_uc010zfj.1_Missense_Mutation_p.T20530A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 27954 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) ATTTTGGTGGTTGTAATGATG 0.448 TTN 7273 broad.mit.edu 37 2 179458930 179458930 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179458930G>A uc010zfg.1 - 246 50710 c.50486C>T c.(50485-50487)ACG>ATG p.T16829M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T10524M|TTN_uc010zfi.1_Missense_Mutation_p.T10457M|TTN_uc010zfj.1_Missense_Mutation_p.T10332M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17756 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) AACTCGAATCGTGAGCTTATC 0.413 TTN 7273 broad.mit.edu 37 2 179466064 179466064 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179466064G>A uc010zfg.1 - 236 48180 c.47956C>T c.(47956-47958)CGA>TGA p.R15986* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R9681*|TTN_uc010zfi.1_Nonsense_Mutation_p.R9614*|TTN_uc010zfj.1_Nonsense_Mutation_p.R9489* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16913 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) TTTTCTGCTCGCACACGGAAG 0.428 TTN 7273 broad.mit.edu 37 2 179500810 179500810 + Missense_Mutation SNP C C T rs149059189 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179500810C>T uc010zfg.1 - 175 34008 c.33784G>A c.(33784-33786)GTC>ATC p.V11262I TTN_uc010zfh.1_Missense_Mutation_p.V4957I|TTN_uc010zfi.1_Missense_Mutation_p.V4890I|TTN_uc010zfj.1_Missense_Mutation_p.V4765I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12189 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) AAGCCAATGACGCCTGGCACA 0.512 TTN 7273 broad.mit.edu 37 2 179585805 179585805 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179585805G>A uc010zfg.1 - 76 19433 c.19209C>T c.(19207-19209)AGC>AGT p.S6403S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3064S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7330 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) CATGAAGTTCGCTGTCATTTC 0.398 TTN 7273 broad.mit.edu 37 2 179586853 179586853 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:179586853T>C uc010zfg.1 - 75 19029 c.18805A>G c.(18805-18807)AAA>GAA p.K6269E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K2930E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7196 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) AAGGGAGATTTCTTGGGTTCT 0.388 NAB1 4664 broad.mit.edu 37 2 191554976 191554976 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:191554976C>A uc002usb.2 + 10 1953 c.1381C>A c.(1381-1383)CTT>ATT p.L461I NAB1_uc010fsc.2_Missense_Mutation_p.L461I|NAB1_uc010fsd.2_Missense_Mutation_p.L460I|NAB1_uc002usc.2_Missense_Mutation_p.L460I|NAB1_uc010zgh.1_Missense_Mutation_p.L431I NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 461 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) TGTAGAGAGCCTTGGGATTTT 0.338 SDPR 8436 broad.mit.edu 37 2 192700903 192700903 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:192700903G>A uc002utb.2 - 2 1354 c.1024C>T c.(1024-1026)CTC>TTC p.L342F NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 342 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCGCTGGCGAGGGACGCTTCG 0.562 PLCL1 5334 broad.mit.edu 37 2 198949135 198949135 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:198949135G>A uc010fsp.2 + 2 1185 c.894G>A c.(892-894)GTG>GTA p.V298V PLCL1_uc002uuv.3_Silent_p.V219V NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 298 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CCACCCGCGTGACCGAAGAGG 0.373 CASP8 841 broad.mit.edu 37 2 202131490 202131490 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:202131490G>A uc002uxr.1 + 3 490 c.281G>A c.(280-282)GGC>GAC p.G94D CASP8_uc010ftc.1_Missense_Mutation_p.G94D|CASP8_uc002uxo.1_Missense_Mutation_p.G94D|CASP8_uc002uxp.1_Missense_Mutation_p.G94D|CASP8_uc002uxq.1_Missense_Mutation_p.G94D|CASP8_uc002uxs.1_Missense_Mutation_p.G94D|CASP8_uc002uxt.1_Missense_Mutation_p.G153D|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G94D|CASP8_uc002uxw.1_Missense_Mutation_p.G94D|CASP8_uc002uxy.1_Missense_Mutation_p.G94D|CASP8_uc002uxx.1_Missense_Mutation_p.G94D|CASP8_uc010ftf.2_Missense_Mutation_p.G94D NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 94 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CAGACACCAGGCAGGGCTCAA 0.488 HNSCC(4;0.00038) RAPH1 65059 broad.mit.edu 37 2 204320201 204320201 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:204320201G>A uc002vad.2 - 9 1486 c.1261C>T c.(1261-1263)CGA>TGA p.R421* RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473* NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 421 PH. cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1) 10 CCAGATGCTCGCAAGAGAAAA 0.383 ERBB4 2066 broad.mit.edu 37 2 212530068 212530068 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:212530068G>A uc002veg.1 - 15 1949 c.1851C>T c.(1849-1851)TGC>TGT p.C617C ERBB4_uc002veh.1_Silent_p.C617C|ERBB4_uc010zji.1_Silent_p.C617C|ERBB4_uc010zjj.1_Silent_p.C617C|ERBB4_uc010fut.1_Silent_p.C617C NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 617 Extracellular (Potential).|Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) AGTTTGGATGGCATGGGTGGC 0.478 TSP Lung(8;0.080) ABCA12 26154 broad.mit.edu 37 2 215855743 215855743 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:215855743T>C uc002vew.2 - 24 3527 c.3307A>G c.(3307-3309)ATG>GTG p.M1103V ABCA12_uc002vev.2_Missense_Mutation_p.M785V|ABCA12_uc010zjn.1_Missense_Mutation_p.M30V NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1103 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTCACACCCATCATCTTCATG 0.368 IGFBP5 3488 broad.mit.edu 37 2 217542917 217542917 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:217542917T>G uc002vgj.3 - 3 1379 c.605A>C c.(604-606)GAG>GCG p.E202A NM_000599 NP_000590 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 202 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding 0 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGCTTTGAGCTCCTGCAGGGA 0.617 TNS1 7145 broad.mit.edu 37 2 218712867 218712867 + Silent SNP C C T rs149540382 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:218712867C>T uc002vgt.2 - 17 2396 c.1998G>A c.(1996-1998)CAG>CAA p.Q666Q TNS1_uc002vgr.2_Silent_p.Q666Q|TNS1_uc002vgs.2_Silent_p.Q666Q|TNS1_uc010zjv.1_Silent_p.Q666Q|TNS1_uc010fvj.1_Silent_p.Q734Q|TNS1_uc010fvk.1_Silent_p.Q791Q|TNS1_uc010fvi.1_Silent_p.Q353Q NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 666 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTCTTTCCTGCTGGCGTGGAG 0.557 TNS1 7145 broad.mit.edu 37 2 218713028 218713028 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:218713028G>T uc002vgt.2 - 17 2235 c.1837C>A c.(1837-1839)CCC>ACC p.P613T TNS1_uc002vgr.2_Missense_Mutation_p.P613T|TNS1_uc002vgs.2_Missense_Mutation_p.P613T|TNS1_uc010zjv.1_Missense_Mutation_p.P613T|TNS1_uc010fvj.1_Missense_Mutation_p.P681T|TNS1_uc010fvk.1_Missense_Mutation_p.P738T|TNS1_uc010fvi.1_Missense_Mutation_p.P300T NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 613 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) ATACCGCTGGGGTCATGGGCA 0.652 CXCR1 3577 broad.mit.edu 37 2 219029293 219029293 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:219029293C>T uc002vhc.2 - 2 761 c.642G>A c.(640-642)CCG>CCA p.P214P NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 214 Helical; Name=5; (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 TGACAAACAGCGGCACGATGA 0.527 USP37 57695 broad.mit.edu 37 2 219339558 219339558 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:219339558T>C uc002vie.2 - 20 2547 c.2094A>G c.(2092-2094)TCA>TCG p.S698S USP37_uc010fvs.1_Silent_p.S698S|USP37_uc010zkf.1_Silent_p.S698S|USP37_uc002vif.2_Silent_p.S698S|USP37_uc002vig.2_Silent_p.S604S NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 698 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) TGTCAAATCCTGAGTTTTCCA 0.388 SPEG 10290 broad.mit.edu 37 2 220349218 220349218 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:220349218C>A uc010fwg.2 + 30 7033 c.7033C>A c.(7033-7035)CTG>ATG p.L2345M NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2345 Arg-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGAGTCGCCCCTGTCGCTGGG 0.697 OBSL1 23363 broad.mit.edu 37 2 220419260 220419260 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:220419260G>T uc010fwk.2 - 15 4869 c.4812C>A c.(4810-4812)GCC>GCA p.A1604A NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1604 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGCCTGAGTCGGCCAGGCCCA 0.632 SLC4A3 6508 broad.mit.edu 37 2 220504357 220504357 + Silent SNP G G A rs138004203 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:220504357G>A uc002vmp.3 + 20 3446 c.3177G>A c.(3175-3177)GCG>GCA p.A1059A SLC4A3_uc002vmo.3_Silent_p.A1086A|SLC4A3_uc010fwm.2_Silent_p.A609A NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 1059 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATGTCAATGCGTTGACAGTGA 0.652 EPHA4 2043 broad.mit.edu 37 2 222365753 222365753 + Silent SNP G G T rs145141867 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:222365753G>T uc002vmq.2 - 4 1005 c.963C>A c.(961-963)GCC>GCA p.A321A EPHA4_uc002vmr.2_Silent_p.A321A|EPHA4_uc010zlm.1_Silent_p.A262A|EPHA4_uc010zln.1_Silent_p.A321A NM_004438 NP_004429 P54764 EPHA4_HUMAN ephrin receptor EphA4 precursor 321 Cys-rich.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1) 12 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) AGGGCATAGAGGCAGCATCGT 0.557 TRIP12 9320 broad.mit.edu 37 2 230654380 230654380 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:230654380G>T uc002vpw.1 - 30 4526 c.4417C>A c.(4417-4419)CTT>ATT p.L1473I TRIP12_uc002vpx.1_Missense_Mutation_p.L1521I|TRIP12_uc002vpy.1_Missense_Mutation_p.L1203I NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1473 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CTTAAAAGAAGGATCACATCT 0.363 CHRND 1144 broad.mit.edu 37 2 233393579 233393579 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:233393579A>G uc002vsw.2 + 6 521 c.517A>G c.(517-519)AAG>GAG p.K173E CHRND_uc010zmg.1_Missense_Mutation_p.K158E|CHRND_uc010fyc.2_Intron|CHRND_uc010zmh.1_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 173 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) CAGTTCCCTCAAGTATACGGC 0.587 UGT1A5 54579 broad.mit.edu 37 2 234622039 234622039 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:234622039T>C uc002vuw.2 + 1 402 c.402T>C c.(400-402)AAT>AAC p.N134N UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.N134N NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 134 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) TACTGCATAATGAGGCCCTGA 0.443 UGT1A5 54579 broad.mit.edu 37 2 234681161 234681161 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:234681161A>G uc002vuw.2 + 5 1561 c.1561A>G c.(1561-1563)AAA>GAA p.K521E UGT1A8_uc002vup.2_Missense_Mutation_p.K517E|UGT1A10_uc002vur.2_Missense_Mutation_p.K517E|UGT1A9_uc002vus.2_Missense_Mutation_p.K517E|UGT1A7_uc002vut.2_Missense_Mutation_p.K517E|UGT1A6_uc002vuu.2_Missense_Mutation_p.K252E|UGT1A6_uc002vuv.3_Missense_Mutation_p.K519E|UGT1A4_uc002vux.2_Missense_Mutation_p.K521E|UGT1A3_uc002vuy.2_Missense_Mutation_p.K521E|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.K520E NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 521 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ATGCTTGGGGAAAAAAGGGCG 0.453 GBX2 2637 broad.mit.edu 37 2 237074893 237074893 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:237074893G>A uc002vvw.1 - 2 749 c.711C>T c.(709-711)GCC>GCT p.A237A GBX2_uc010zng.1_3'UTR NM_001485 NP_001476 P52951 GBX2_HUMAN gastrulation brain homeo box 2 237 QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) TGCTGCCCGCGGCGCCGCTGC 0.647 IQCA1 79781 broad.mit.edu 37 2 237246962 237246962 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:237246962G>A uc002vvz.1 - 17 2202 c.2020C>T c.(2020-2022)CGG>TGG p.R674W IQCA1_uc002vwb.2_Missense_Mutation_p.R682W|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R633W NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 674 ATP binding ovary(1) 1 ATCAGAATCCGGTCATCTGGT 0.438 ANKMY1 51281 broad.mit.edu 37 2 241439490 241439490 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:241439490G>A uc002vyz.1 - 14 2653 c.2424C>T c.(2422-2424)CGC>CGT p.R808R ANKMY1_uc002vza.1_Silent_p.R584R|ANKMY1_uc010fzd.1_Silent_p.R897R|ANKMY1_uc002vzb.1_Silent_p.R569R|ANKMY1_uc002vzc.1_Silent_p.R587R|ANKMY1_uc002vzd.1_Silent_p.R631R NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 808 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGAACGTCTCGCGCTCTGCTG 0.677 AGXT 189 broad.mit.edu 37 2 241808357 241808357 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:241808357G>T uc002waa.3 + 1 196 c.75G>T c.(73-75)CTG>CTT p.L25L AGXT_uc010zoi.1_Silent_p.L25L NM_000030 NP_000021 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 25 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity 0 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACCAGCTCCTGCTGGGGCCTG 0.652 SIRPG 55423 broad.mit.edu 37 20 1615967 1615967 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:1615967G>T uc002wfm.1 - 4 1092 c.1027C>A c.(1027-1029)CTT>ATT p.L343I SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 343 Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 TCTAGGGCAAGGCGTTTGCTG 0.493 ADAM33 80332 broad.mit.edu 37 20 3652954 3652954 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:3652954C>T uc002wit.2 - 14 1511 c.1424G>A c.(1423-1425)TGC>TAC p.C475Y ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C475Y|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.C475Y|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron NM_025220 NP_079496 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 isoform alpha 475 Extracellular (Potential).|Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding large_intestine(2)|ovary(1)|skin(1) 4 GGCCTGGCGGCACAGCGCTCC 0.667 SNAP25 6616 broad.mit.edu 37 20 10280034 10280034 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:10280034C>T uc002wnq.1 + 7 738 c.526C>T c.(526-528)CGC>TGC p.R176C SNAP25_uc002wnr.1_Missense_Mutation_p.R176C|SNAP25_uc002wns.1_Missense_Mutation_p.R113C|SNAP25_uc010gca.1_Missense_Mutation_p.R176C|SNAP25_uc010gcb.1_Missense_Mutation_p.R113C|SNAP25_uc010gcc.1_Missense_Mutation_p.R70C NM_130811 NP_570824 P60880 SNP25_HUMAN synaptosomal-associated protein 25 isoform 176 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome skin(2) 2 Botulinum Toxin Type A(DB00083) TACACAGAATCGCCAGATCGA 0.507 XRN2 22803 broad.mit.edu 37 20 21328891 21328891 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:21328891G>A uc002wsf.1 + 18 1868 c.1773G>A c.(1771-1773)CCG>CCA p.P591P XRN2_uc002wsg.1_Silent_p.P515P|XRN2_uc010zsk.1_Silent_p.P537P NM_012255 NP_036387 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 591 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding skin(1) 1 GTACGAAACCGGTAAGCTTAA 0.338 NKX2-2 4821 broad.mit.edu 37 20 21494212 21494212 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:21494212C>T uc002wsi.2 - 1 453 c.96G>A c.(94-96)CCG>CCA p.P32P NM_002509 NP_002500 O95096 NKX22_HUMAN NK2 transcription factor related, locus 2 32 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity pancreas(1)|skin(1) 2 TCTCTTCCTCCGGACCTTCGG 0.647 ZNF341 84905 broad.mit.edu 37 20 32349702 32349702 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:32349702T>C uc002wzy.2 + 8 1083 c.1063T>C c.(1063-1065)TGT>CGT p.C355R ZNF341_uc002wzx.2_Missense_Mutation_p.C348R|ZNF341_uc010geq.2_Missense_Mutation_p.C265R|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 355 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GTGCATTGCATGTGGCCGTGC 0.582 NCOA6 23054 broad.mit.edu 37 20 33345657 33345657 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:33345657C>T uc002xav.2 - 8 3465 c.894G>A c.(892-894)CAG>CAA p.Q298Q NCOA6_uc002xaw.2_Silent_p.Q298Q|NCOA6_uc010gew.1_Silent_p.Q255Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 298 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-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 TTCCCTGTGGCTGTTGCTGCT 0.413 GGT7 2686 broad.mit.edu 37 20 33450619 33450619 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:33450619G>A uc002xay.2 - 3 598 c.555C>T c.(553-555)GGC>GGT p.G185G GGT7_uc002xaz.1_Silent_p.G202G|GGT7_uc002xba.1_Silent_p.G185G NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 185 Extracellular (Potential). glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(1) 1 CTCCTTACCCGCCCAGGCCAG 0.597 ACSS2 55902 broad.mit.edu 37 20 33509227 33509227 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:33509227C>T uc002xbd.2 + 11 1493 c.1372C>T c.(1372-1374)CGC>TGC p.R458C ACSS2_uc002xbc.2_Missense_Mutation_p.R363C|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.R471C|ACSS2_uc002xbe.2_Missense_Mutation_p.R166C|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 458 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGTGCCCAGCGCTGCCCCAT 0.587 GDF5 8200 broad.mit.edu 37 20 34025642 34025642 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:34025642A>G uc002xck.1 - 1 386 c.67T>C c.(67-69)TGC>CGC p.C23R GDF5_uc010gfc.1_Missense_Mutation_p.C23R|GDF5_uc010zvc.1_Missense_Mutation_p.C23R NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 23 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) AACACAGTGCAGATGAATTCC 0.597 EPB41L1 2036 broad.mit.edu 37 20 34785881 34785881 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:34785881A>T uc002xfb.2 + 14 1757 c.1586A>T c.(1585-1587)GAT>GTT p.D529V EPB41L1_uc002xeu.2_Missense_Mutation_p.D455V|EPB41L1_uc010zvo.1_Missense_Mutation_p.D529V|EPB41L1_uc002xev.2_Missense_Mutation_p.D529V|EPB41L1_uc002xew.2_Missense_Mutation_p.D420V|EPB41L1_uc002xex.2_Missense_Mutation_p.D486V|EPB41L1_uc002xey.2_Missense_Mutation_p.D444V|EPB41L1_uc002xez.2_Missense_Mutation_p.D455V|EPB41L1_uc010gfq.2_5'UTR NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 529 Spectrin--actin-binding. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) ATCCACCGGGATCGAGACTGG 0.597 DLGAP4 22839 broad.mit.edu 37 20 35064573 35064573 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:35064573C>T uc002xff.2 + 4 1496 c.1061C>T c.(1060-1062)GCG>GTG p.A354V DLGAP4_uc010zvp.1_Missense_Mutation_p.A354V NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 354 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACGGATGCCGCGGCCGAGGGC 0.736 RBL1 5933 broad.mit.edu 37 20 35632262 35632262 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:35632262G>T uc002xgi.2 - 21 2958 c.2879C>A c.(2878-2880)GCT>GAT p.A960D RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A960D NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 960 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) GAGTGGTGGAGCATCCATCTA 0.378 MAFB 9935 broad.mit.edu 37 20 39317104 39317104 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:39317104G>A uc002xji.2 - 1 773 c.387C>T c.(385-387)GGC>GGT p.G129G NM_005461 NP_005452 Q9Y5Q3 MAFB_HUMAN transcription factor MAFB 129 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 Myeloproliferative disorder(115;0.00878) ggtggtgAGCGCCGCGAAAGC 0.587 T IGH@ MM L3MBTL 26013 broad.mit.edu 37 20 42161464 42161464 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:42161464C>T uc010zwh.1 + 12 1316 c.1270C>T c.(1270-1272)CGC>TGC p.R424C L3MBTL_uc002xkl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkm.2_Missense_Mutation_p.R356C|L3MBTL_uc010ggl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkn.1_Missense_Mutation_p.R115C|L3MBTL_uc002xko.2_Missense_Mutation_p.R8C NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 356 MBT 2. chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGCTGTTGACCGCATGAACCC 0.587 MYBL2 4605 broad.mit.edu 37 20 42328520 42328520 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:42328520G>A uc002xlb.1 + 7 1002 c.787G>A c.(787-789)GCA>ACA p.A263T MYBL2_uc010zwj.1_Missense_Mutation_p.A239T|MYBL2_uc002xla.1_Missense_Mutation_p.A263T NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGATCTGGACGCAGTGCGAAC 0.582 KCNK15 60598 broad.mit.edu 37 20 43378878 43378878 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:43378878G>A uc002xmr.2 + 2 456 c.392G>A c.(391-393)CGG>CAG p.R131Q NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 131 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) CTGGGCGAACGGCTGAACGCG 0.692 MATN4 8785 broad.mit.edu 37 20 43927136 43927136 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:43927136A>G uc002xnn.2 - 7 1287 c.1100T>C c.(1099-1101)TTC>TCC p.F367S MATN4_uc002xno.2_Missense_Mutation_p.F326S|MATN4_uc002xnp.2_Missense_Mutation_p.F285S|MATN4_uc010zwr.1_Missense_Mutation_p.F315S|MATN4_uc002xnr.1_Missense_Mutation_p.F367S NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 408 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) CTGGTTCACGAAGCGCTTCAC 0.617 CDH22 64405 broad.mit.edu 37 20 44845508 44845508 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:44845508G>A uc002xrm.2 - 4 1196 c.795C>T c.(793-795)ATC>ATT p.I265I CDH22_uc010ghk.1_Silent_p.I265I|CDH22_uc002xrn.1_Silent_p.I16I NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 265 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) CGGTGACTACGATGGTGACGG 0.627 DDX27 55661 broad.mit.edu 37 20 47850160 47850160 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:47850160G>A uc002xuh.2 + 11 1341 c.1280G>A c.(1279-1281)AGC>AAC p.S427N NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 427 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTTGTGAACAGCAACACAGAT 0.557 ADNP 23394 broad.mit.edu 37 20 49508535 49508535 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:49508535C>T uc002xvt.1 - 5 3061 c.2716G>A c.(2716-2718)GAT>AAT p.D906N ADNP_uc002xvu.1_Missense_Mutation_p.D906N NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 906 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TCTGGGTTATCGTTAGAGATT 0.388 SALL4 57167 broad.mit.edu 37 20 50418891 50418891 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:50418891G>A uc002xwh.3 - 1 158 c.57C>T c.(55-57)GGC>GGT p.G19G SALL4_uc010gii.2_Silent_p.G19G|SALL4_uc002xwi.3_Silent_p.G19G NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 19 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GCTGCTGCTCGCCCTGGTCCT 0.587 CTCFL 140690 broad.mit.edu 37 20 56099127 56099127 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:56099127A>C uc010gix.1 - 1 797 c.135T>G c.(133-135)AGT>AGG p.S45R CTCFL_uc010giw.1_Missense_Mutation_p.S45R|CTCFL_uc002xym.2_Missense_Mutation_p.S45R|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S45R|CTCFL_uc010gjb.1_Missense_Mutation_p.S45R|CTCFL_uc010gjc.1_Missense_Mutation_p.S45R|CTCFL_uc010gjd.1_Missense_Mutation_p.S45R|CTCFL_uc010gje.2_Missense_Mutation_p.S45R|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S45R|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.S45R|CTCFL_uc010gjk.1_Missense_Mutation_p.S45R|CTCFL_uc010gjl.1_Missense_Mutation_p.S45R NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 45 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTCCAACTCACTAGGGCTCC 0.562 ZNF831 128611 broad.mit.edu 37 20 57768587 57768587 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:57768587C>A uc002yan.2 + 1 2513 c.2513C>A c.(2512-2514)CCT>CAT p.P838H NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 838 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CAACCAGAGCCTGTGAGCGCA 0.637 LAMA5 3911 broad.mit.edu 37 20 60886128 60886128 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:60886128G>T uc002ycq.2 - 74 10178 c.10111C>A c.(10111-10113)CTC>ATC p.L3371I NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3371 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTCGCGGGAGGACGTGCATG 0.682 CHRNA4 1137 broad.mit.edu 37 20 61981147 61981147 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:61981147G>A uc002yes.2 - 5 1794 c.1616C>T c.(1615-1617)TCG>TTG p.S539L CHRNA4_uc002yet.1_Missense_Mutation_p.S363L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S468L|CHRNA4_uc002yev.1_Missense_Mutation_p.S363L|CHRNA4_uc010gkf.1_Missense_Mutation_p.S363L NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 539 Cytoplasmic (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGGGGACACCGAAGAGGGCTC 0.716 SOX18 54345 broad.mit.edu 37 20 62679699 62679699 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:62679699G>A uc002yhs.2 - 2 1085 c.975C>T c.(973-975)ACC>ACT p.T325T NM_018419 NP_060889 P35713 SOX18_HUMAN SRY-box 18 325 Sox C-terminal. angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGTCGAACTCGGTGAGGTCCA 0.756 SAMSN1 64092 broad.mit.edu 37 21 15889305 15889305 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:15889305C>A uc002yju.1 - 3 269 c.187G>T c.(187-189)GGA>TGA p.G63* SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.G131* NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 63 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) AAACCGCCTCCATTATTTGAA 0.333 ADAMTS1 9510 broad.mit.edu 37 21 28210316 28210316 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:28210316C>T uc002ymf.2 - 9 2941 c.2486G>A c.(2485-2487)GGC>GAC p.G829D NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 829 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) AAGGGCATTGCCCACAGTAAG 0.463 TIAM1 7074 broad.mit.edu 37 21 32492843 32492843 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:32492843C>T uc002yow.1 - 29 5091 c.4619G>A c.(4618-4620)CGG>CAG p.R1540Q TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1480Q NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1540 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 CAGGGTTTTCCGGCCTCTTTC 0.602 HUNK 30811 broad.mit.edu 37 21 33340634 33340634 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:33340634C>T uc002yph.2 + 6 1307 c.947C>T c.(946-948)GCG>GTG p.A316V NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 316 Protein kinase. multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CAGGCACTGGCGAATCGCTGG 0.522 ETS2 2114 broad.mit.edu 37 21 40186743 40186743 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:40186743C>T uc002yxg.2 + 5 539 c.343C>T c.(343-345)CTT>TTT p.L115F ETS2_uc002yxf.2_Missense_Mutation_p.L255F NM_005239 NP_005230 P15036 ETS2_HUMAN v-ets erythroblastosis virus E26 oncogene 115 PNT. positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1)|breast(1)|pancreas(1) 4 Prostate(19;6.33e-08)|all_epithelial(19;0.123) ATGCCAGTGGCTTCTCTGGGC 0.502 DSCAM 1826 broad.mit.edu 37 21 41385177 41385177 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:41385177C>T uc002yyq.1 - 33 6275 c.5823G>A c.(5821-5823)ACG>ACA p.T1941T DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1941 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCTCCAGGACCGTGGGGCGCT 0.627 DSCAM 1826 broad.mit.edu 37 21 41414420 41414420 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:41414420G>A uc002yyq.1 - 32 6016 c.5564C>T c.(5563-5565)ACG>ATG p.T1855M DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1855 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGACTGTCCGTGTACTCATT 0.527 RIPK4 54101 broad.mit.edu 37 21 43161767 43161767 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:43161767G>A uc002yzn.1 - 8 1634 c.1586C>T c.(1585-1587)TCG>TTG p.S529L NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 529 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CTCGTTGACCGAGGCGTTCTT 0.632 ZNF295 49854 broad.mit.edu 37 21 43412172 43412172 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:43412172G>A uc002zab.3 - 3 2247 c.2033C>T c.(2032-2034)GCG>GTG p.A678V ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.A678V|ZNF295_uc002zaa.3_Missense_Mutation_p.A678V NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 678 C2H2-type 3. negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 AAAGCGGTACGCTTTTCCGCA 0.433 TRPM2 7226 broad.mit.edu 37 21 45811232 45811232 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:45811232C>T uc002zet.1 + 12 1731 c.1518C>T c.(1516-1518)AAC>AAT p.N506N TRPM2_uc002zeu.1_Silent_p.N506N|TRPM2_uc002zew.1_Silent_p.N506N|TRPM2_uc010gpt.1_Silent_p.N506N|TRPM2_uc002zex.1_Silent_p.N292N|TRPM2_uc002zey.1_Silent_p.N19N NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 506 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCCTGGAGAACGGGGTGCAGC 0.557 KRTAP10-9 386676 broad.mit.edu 37 21 46047482 46047482 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:46047482G>A uc002zfp.3 + 1 443 c.394G>A c.(394-396)GCC>ACC p.A132T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 132 25 X 5 AA repeats of C-C-X(3).|11. keratin filament 0 agcttgctgtgcctcttcctc 0.159 COL6A1 1291 broad.mit.edu 37 21 47401840 47401840 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:47401840C>A uc002zhu.1 + 1 178 c.76C>A c.(76-78)CCG>ACG p.P26T NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor 26 N-terminal globular domain. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCCGGAGACCCCGAGGGCCGT 0.721 COL6A2 1292 broad.mit.edu 37 21 47531946 47531946 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:47531946G>A uc002zia.1 + 3 251 c.169G>A c.(169-171)GTC>ATC p.V57I COL6A2_uc002zhy.1_Missense_Mutation_p.V57I|COL6A2_uc002zhz.1_Missense_Mutation_p.V57I|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 57 VWFA 1.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CTCGGAGAGCGTCACCATGCA 0.602 DIP2A 23181 broad.mit.edu 37 21 47987341 47987341 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:47987341C>T uc002zjo.2 + 38 4705 c.4522C>T c.(4522-4524)CAG>TAG p.Q1508* DIP2A_uc011afz.1_Nonsense_Mutation_p.Q1504*|DIP2A_uc002zjs.2_Nonsense_Mutation_p.Q188*|DIP2A_uc002zjt.2_RNA NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 1508 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGGGCTAGAGCAGGATGCCCT 0.612 CECR6 27439 broad.mit.edu 37 22 17601107 17601107 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:17601107G>A uc002zmb.2 - 1 1107 c.911C>T c.(910-912)GCG>GTG p.A304V CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 304 Ala-rich. 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) tgccgcggccgcccccaggcc 0.478 TSSK2 23617 broad.mit.edu 37 22 19119328 19119328 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:19119328G>A uc002zow.2 + 1 1008 c.416G>A c.(415-417)TGC>TAC p.C139Y DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 139 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) GACCTCAAGTGCGAGAACCTT 0.592 HIRA 7290 broad.mit.edu 37 22 19340920 19340920 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:19340920C>T uc002zpf.1 - 23 3027 c.2807G>A c.(2806-2808)CGC>CAC p.R936H HIRA_uc011agx.1_Missense_Mutation_p.R802H|HIRA_uc010grn.1_Missense_Mutation_p.R729H|HIRA_uc010gro.1_Missense_Mutation_p.R892H|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 936 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) GAGCCAATGGCGGTACTCGTG 0.622 CDC45 8318 broad.mit.edu 37 22 19492925 19492925 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:19492925G>A uc002zpr.2 + 10 821 c.745G>A c.(745-747)GTT>ATT p.V249I CDC45_uc011agz.1_Missense_Mutation_p.V244I|CDC45_uc011aha.1_Missense_Mutation_p.V281I|CDC45_uc002zps.2_Missense_Mutation_p.V249I|CDC45_uc002zpt.2_Missense_Mutation_p.V203I NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 249 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 GCAGCGCCACGTTTCCCGCCA 0.542 GNB1L 54584 broad.mit.edu 37 22 19808148 19808148 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:19808148G>A uc002zqe.1 - 3 621 c.227C>T c.(226-228)ACG>ATG p.T76M GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.T76M NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 76 WD 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) CTGGGGCAGCGTCTGCAGCCA 0.652 COMT 1312 broad.mit.edu 37 22 19956195 19956195 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:19956195G>T uc002zqu.2 + 6 1001 c.752G>T c.(751-753)AGG>ATG p.R251M COMT_uc002zqv.2_Missense_Mutation_p.R251M|COMT_uc002zqw.2_Missense_Mutation_p.R251M|COMT_uc011ahd.1_Missense_Mutation_p.R251M|COMT_uc002zqx.2_Missense_Mutation_p.R251M NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 251 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CTGGAATACAGGGAGGTGGTG 0.647 ZDHHC8 29801 broad.mit.edu 37 22 20127121 20127121 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:20127121G>A uc002zrq.2 + 3 453 c.347G>A c.(346-348)CGC>CAC p.R116H ZDHHC8_uc002zrr.1_Missense_Mutation_p.R116H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R14H NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 116 Cytoplasmic (Potential).|DHHC-type. cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CGCCCGCCGCGCTGCTCCCAC 0.657 MED15 51586 broad.mit.edu 37 22 20920849 20920849 + Missense_Mutation SNP G G T rs361923 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:20920849G>T uc002zsp.2 + 7 866 c.786G>T c.(784-786)CAG>CAT p.Q262H MED15_uc002zso.2_Missense_Mutation_p.Q191H|MED15_uc002zsq.2_Missense_Mutation_p.Q262H|MED15_uc010gso.2_Missense_Mutation_p.Q262H|MED15_uc002zsr.2_Missense_Mutation_p.Q236H|MED15_uc011ahs.1_Missense_Mutation_p.Q236H|MED15_uc002zss.2_Missense_Mutation_p.Q181H|MED15_uc011ahu.1_Translation_Start_Site NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) agcagcagcagGCTTTGCAGG 0.333 HIC2 23119 broad.mit.edu 37 22 21799216 21799216 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:21799216G>A uc002zur.3 + 3 262 c.32G>A c.(31-33)TGC>TAC p.C11Y HIC2_uc002zus.3_Missense_Mutation_p.C11Y NM_015094 NP_055909 Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 11 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding skin(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CACAGGTGGTGCGCGTGGGCA 0.672 SMARCB1 6598 broad.mit.edu 37 22 24167550 24167550 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:24167550G>A uc002zyb.2 + 7 1141 c.934G>A c.(934-936)GCA>ACA p.A312T SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.A303T|SMARCB1_uc002zyd.2_Missense_Mutation_p.A321T NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 312 Interaction with PPP1R15A.|2.|2 X approximate tandem repeats. cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(6)|p.L266_*386del(1)|p.A312fs*9(1) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) CACCACCATCGCATACAGCAT 0.557 D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis ZNRF3 84133 broad.mit.edu 37 22 29440829 29440829 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:29440829T>C uc003aeg.2 + 5 560 c.395T>C c.(394-396)GTC>GCC p.V132A ZNRF3_uc003aeh.1_Missense_Mutation_p.V132A NM_032173 NP_115549 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 232 Helical; (Potential). integral to membrane zinc ion binding ovary(1) 1 GTCTCCTTGGTCTGCCTCATC 0.532 EMID1 129080 broad.mit.edu 37 22 29621187 29621187 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:29621187C>T uc003aen.2 + 4 454 c.379C>T c.(379-381)CGG>TGG p.R127W EMID1_uc003aem.2_Missense_Mutation_p.R129W|EMID1_uc003aeo.2_Missense_Mutation_p.R129W|EMID1_uc003aep.2_Missense_Mutation_p.R129W NM_133455 NP_597712 Q96A84 EMID1_HUMAN EMI domain containing 1 127 collagen 0 GATGGCGCTTCGGCCCACAGC 0.632 GAS2L1 10634 broad.mit.edu 37 22 29706822 29706822 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:29706822C>T uc003afa.1 + 5 1043 c.844C>T c.(844-846)CGC>TGC p.R282C GAS2L1_uc010gvm.1_Missense_Mutation_p.R282C|GAS2L1_uc003afb.1_Missense_Mutation_p.R282C|GAS2L1_uc003afc.1_Missense_Mutation_p.R282C|GAS2L1_uc003afd.1_Missense_Mutation_p.R282C|GAS2L1_uc003afe.1_Missense_Mutation_p.R282C NM_152236 NP_689422 Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 isoform a 282 cell cycle arrest cytoplasm|cytoskeleton 0 CGCAGCTCATCGCCCACCCCA 0.687 CCDC157 550631 broad.mit.edu 37 22 30766894 30766894 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:30766894C>T uc011aku.1 + 5 1660 c.1000C>T c.(1000-1002)CAG>TAG p.Q334* CCDC157_uc011akv.1_Nonsense_Mutation_p.Q334* NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 334 Potential. central_nervous_system(1) 1 GGAGGATGAGCAGTGCCTGTC 0.657 SEC14L3 266629 broad.mit.edu 37 22 30857641 30857641 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:30857641C>T uc003ahy.2 - 10 901 c.812G>A c.(811-813)CGG>CAG p.R271Q SEC14L3_uc003ahz.2_Missense_Mutation_p.R194Q|SEC14L3_uc003aia.2_Missense_Mutation_p.R212Q|SEC14L3_uc003aib.2_Missense_Mutation_p.R212Q NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 271 integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) CACCTGGTCCCGCACGTACAT 0.443 DUSP18 150290 broad.mit.edu 37 22 31059662 31059662 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:31059662C>T uc003aiu.2 - 2 830 c.329G>A c.(328-330)CGC>CAC p.R110H SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.R110H NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN dual specificity phosphatase 18 110 Tyrosine-protein phosphatase. R->K: Abolishes most of in vitro phosphatase activity. cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 GGCAGCTGAGCGGCTCACACC 0.592 MORC2 22880 broad.mit.edu 37 22 31324132 31324132 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:31324132A>G uc003aje.1 - 26 4082 c.2718T>C c.(2716-2718)CGT>CGC p.R906R NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN MORC family CW-type zinc finger 2 968 Potential. ATP binding|zinc ion binding ovary(1)|pancreas(1) 2 GGGAGTCAGCACGGCTCTGGT 0.567 SFI1 9814 broad.mit.edu 37 22 32000924 32000924 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:32000924C>T uc003ale.2 + 20 2440 c.2047C>T c.(2047-2049)CTG>TTG p.L683L SFI1_uc003ald.1_Silent_p.L659L|SFI1_uc003alf.2_Silent_p.L652L|SFI1_uc003alg.2_Silent_p.L601L|SFI1_uc011alp.1_Silent_p.L601L|SFI1_uc011alq.1_Silent_p.L628L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_Intron NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 683 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CAACAGGCAGCTGCTGCGGTG 0.637 SLC5A4 6527 broad.mit.edu 37 22 32628914 32628914 + Silent SNP C C T rs143604627 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:32628914C>T uc003ami.2 - 9 995 c.993G>A c.(991-993)CCG>CCA p.P331P NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 331 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 TGATCATCCCCGGCATCACCA 0.473 TOM1 10043 broad.mit.edu 37 22 35743188 35743188 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:35743188C>T uc003ann.2 + 15 1590 c.1465C>T c.(1465-1467)CTG>TTG p.L489L TOM1_uc011ami.1_Silent_p.L457L|TOM1_uc011amj.1_Silent_p.L332L|TOM1_uc003ans.2_Silent_p.L332L|TOM1_uc011amk.1_Silent_p.L451L|TOM1_uc003anp.2_Silent_p.L490L|TOM1_uc011aml.1_Silent_p.L444L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L483L|TOM1_uc003anr.2_Silent_p.L332L NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 489 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 TGATGACATGCTGTTTGCCTT 0.637 MYH9 4627 broad.mit.edu 37 22 36700098 36700098 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:36700098T>G uc003apg.2 - 19 2564 c.2333A>C c.(2332-2334)AAG>ACG p.K778T MYH9_uc003aph.1_Missense_Mutation_p.K642T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 778 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GTCGGTGATCTTCAGGTCTCG 0.617 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated APOBEC3D 140564 broad.mit.edu 37 22 39418942 39418942 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:39418942C>T uc011aoe.1 + 2 187 c.133C>T c.(133-135)CGC>TGC p.R45C APOBEC3D_uc011aod.1_Missense_Mutation_p.R45C|APOBEC3D_uc011aof.1_Missense_Mutation_p.R45C|APOBEC3D_uc003awu.3_Missense_Mutation_p.R45C|APOBEC3D_uc003awt.3_Missense_Mutation_p.R45C|APOBEC3D_uc010gxu.2_5'UTR NM_152426 NP_689639 Q96AK3 ABC3D_HUMAN apolipoprotein B mRNA editing enzyme, catalytic 45 negative regulation of transposition hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 Melanoma(58;0.04) AAAGAGGGGCCGCTCAAATCT 0.498 SMCR7L 54471 broad.mit.edu 37 22 39909948 39909948 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:39909948C>T uc003axx.2 + 6 1510 c.1012C>T c.(1012-1014)CGG>TGG p.R338W SMCR7L_uc003axw.2_Missense_Mutation_p.R338W|SMCR7L_uc010gxz.1_Missense_Mutation_p.R160W|SMCR7L_uc003axy.2_Missense_Mutation_p.R160W NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 338 integral to membrane|mitochondrion p.R338Q(1) central_nervous_system(1) 1 Melanoma(58;0.04) CAACCTGTGGCGGCTGAGCCT 0.602 OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SGSM3 27352 broad.mit.edu 37 22 40801789 40801789 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:40801789G>A uc003ayu.1 + 8 964 c.755G>A c.(754-756)CGC>CAC p.R252H SGSM3_uc010gyc.1_Missense_Mutation_p.R252H|SGSM3_uc011aos.1_Missense_Mutation_p.R185H|SGSM3_uc011aot.1_Missense_Mutation_p.R189H|SGSM3_uc010gyd.1_Missense_Mutation_p.R252H NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 252 Rab-GAP TBC. cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding ovary(2) 2 CGGGTCCTGCGCCACCTCATT 0.617 RBX1 9978 broad.mit.edu 37 22 41360110 41360110 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:41360110G>T uc003azk.2 + 3 235 c.217G>T c.(217-219)GGA>TGA p.G73* XPNPEP3_uc011aoy.1_RNA NM_014248 NP_055063 P62877 RBX1_HUMAN ring-box 1 73 RING-type. DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex NEDD8 ligase activity|protein binding|zinc ion binding skin(1) 1 TGTCGCATGGGGAGTCTGTAA 0.458 L3MBTL2 83746 broad.mit.edu 37 22 41625570 41625570 + Nonsense_Mutation SNP C C T rs151099443 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:41625570C>T uc003azo.2 + 16 1969 c.1915C>T c.(1915-1917)CGA>TGA p.R639* L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR NM_031488 NP_113676 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 639 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 CACTAAGACGCGACCCCTCAG 0.532 PMM1 5372 broad.mit.edu 37 22 41982188 41982188 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:41982188G>A uc003bal.2 - 2 159 c.97C>T c.(97-99)CCT>TCT p.P33S NM_002676 NP_002667 Q92871 PMM1_HUMAN phosphomannomutase 1 33 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity ovary(1) 1 GCCACCTCAGGGTCAATTTTC 0.557 SEPT3 55964 broad.mit.edu 37 22 42383721 42383721 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:42383721G>A uc003bbr.3 + 5 647 c.509G>A c.(508-510)CGT>CAT p.R170H WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.R170H|SEPT3_uc010gyr.2_Missense_Mutation_p.R106H|SEPT3_uc011apj.1_Missense_Mutation_p.R106H|SEPT3_uc010gys.2_Translation_Start_Site NM_145733 NP_663786 Q9UH03 SEPT3_HUMAN septin 3 isoform A 170 cell cycle|cytokinesis cell junction|septin complex GTP binding 0 CCTGACACTCGTGTCCACTGC 0.517 FBLN1 2192 broad.mit.edu 37 22 45923783 45923783 + Silent SNP C C T rs144410933 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:45923783C>T uc003bgj.1 + 4 525 c.378C>T c.(376-378)TGC>TGT p.C126C FBLN1_uc003bgg.1_Silent_p.C126C|FBLN1_uc003bgh.2_Silent_p.C126C|FBLN1_uc010gzz.2_Silent_p.C164C|FBLN1_uc003bgi.1_Silent_p.C126C NM_006486 NP_006477 P23142 FBLN1_HUMAN fibulin 1 isoform D 126 Anaphylatoxin-like 3. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCCAGAGCTGCGAGTACAGCC 0.622 PKDREJ 10343 broad.mit.edu 37 22 46657387 46657387 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:46657387T>C uc003bhh.2 - 1 1833 c.1833A>G c.(1831-1833)TCA>TCG p.S611S NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 611 Extracellular (Potential).|REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCTCTTTTACTGAACTGATTT 0.428 TTC38 55020 broad.mit.edu 37 22 46681140 46681140 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:46681140C>T uc003bhi.2 + 9 874 c.798C>T c.(796-798)GGC>GGT p.G266G TTC38_uc011aqx.1_Silent_p.G208G NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 266 TPR 3. binding ovary(1) 1 TCTTCCAGGGCGAATATGAGG 0.493 CELSR1 9620 broad.mit.edu 37 22 46773080 46773080 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:46773080C>T uc003bhw.1 - 24 7462 c.7462G>A c.(7462-7464)GTC>ATC p.V2488I CELSR1_uc011arc.1_Missense_Mutation_p.V809I NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2488 Helical; Name=1; (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CTCAGGAGGACGAAGGCCACC 0.602 BRD1 23774 broad.mit.edu 37 22 50217527 50217527 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:50217527C>T uc003biv.2 - 1 926 c.439G>A c.(439-441)GCC>ACC p.A147T BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.A147T|BRD1_uc011arh.1_Missense_Mutation_p.A147T|BRD1_uc003biu.3_Missense_Mutation_p.A147T NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 147 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGTTCCTCGGCCGACTTCTCG 0.627 PLXNB2 23654 broad.mit.edu 37 22 50728599 50728599 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:50728599C>T uc003bkv.3 - 3 521 c.415G>A c.(415-417)GGG>AGG p.G139R NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 139 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GACTTCTCCCCGCTGCCGTCC 0.647 FAM116B 414918 broad.mit.edu 37 22 50755772 50755772 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:50755772A>G uc011aru.1 - 6 475 c.403T>C c.(403-405)TAC>CAC p.Y135H FAM116B_uc011arv.1_Missense_Mutation_p.Y135H NM_001001794 NP_001001794 Q8NEG7 F116B_HUMAN family with sequence similarity 116, member B 135 0 all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCCTGAAGTACACGTAGCCG 0.642 MIOX 55586 broad.mit.edu 37 22 50928041 50928041 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:50928041C>T uc003bll.1 + 9 831 c.717C>T c.(715-717)GAC>GAT p.D239D MIOX_uc003blm.1_Silent_p.D239D|MIOX_uc003bln.1_Intron NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 239 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCAGCAGGACCTGGCCATGC 0.672 CHL1 10752 broad.mit.edu 37 3 402043 402043 + Silent SNP G G A rs144449707 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:402043G>A uc003bou.2 + 11 1465 c.1194G>A c.(1192-1194)GTG>GTA p.V398V CHL1_uc003bot.2_Silent_p.V414V|CHL1_uc003bow.1_Silent_p.V398V|CHL1_uc011asi.1_Silent_p.V414V NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 398 Ig-like C2-type 4.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ATACTGCTGTGTACCAGTGTG 0.428 IL5RA 3568 broad.mit.edu 37 3 3139598 3139598 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:3139598G>T uc011ask.1 - 8 1309 c.665C>A c.(664-666)TCT>TAT p.S222Y IL5RA_uc010hbq.2_Missense_Mutation_p.S222Y|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.S222Y|IL5RA_uc011asl.1_Missense_Mutation_p.S222Y|IL5RA_uc011asm.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbt.2_Missense_Mutation_p.S222Y|IL5RA_uc011asn.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbu.2_Missense_Mutation_p.S222Y NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 222 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CCTGATAGCAGAGTGCTTGCT 0.448 ZFYVE20 64145 broad.mit.edu 37 3 15115637 15115637 + Missense_Mutation SNP C C G rs139954695 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:15115637C>G uc003bzm.1 - 14 2621 c.2007G>C c.(2005-2007)GAG>GAC p.E669D ZFYVE20_uc010hek.1_Missense_Mutation_p.E669D NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 669 Poly-Glu.|Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 CTTCCTCCTCCTCGTCCTCTT 0.557 ZFYVE20 64145 broad.mit.edu 37 3 15127396 15127396 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:15127396A>G uc003bzm.1 - 6 976 c.362T>C c.(361-363)GTC>GCC p.V121A ZFYVE20_uc010hek.1_Missense_Mutation_p.V121A|ZFYVE20_uc011avn.1_Missense_Mutation_p.V121A NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein 121 Necessary for the correct targeting to endosomes. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 TAGTTTATTGACTTCCACAAC 0.358 RFTN1 23180 broad.mit.edu 37 3 16535299 16535299 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:16535299A>G uc003cay.2 - 2 360 c.78T>C c.(76-78)CCT>CCC p.P26P NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 26 plasma membrane ovary(3)|central_nervous_system(1) 4 TTTCCACCTGAGGCCTCTTCA 0.488 KCNH8 131096 broad.mit.edu 37 3 19479672 19479672 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:19479672G>A uc003cbk.1 + 8 1389 c.1194G>A c.(1192-1194)TTG>TTA p.L398L KCNH8_uc011awe.1_Silent_p.L398L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.L29L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 398 Extracellular (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TTCATGAGTTGGGAAAGAGAC 0.443 KAT2B 8850 broad.mit.edu 37 3 20181816 20181816 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:20181816C>T uc003cbq.2 + 13 2410 c.1964C>T c.(1963-1965)CCG>CTG p.P655L NM_003884 NP_003875 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 655 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCACGGATCCCGTACACAGAA 0.418 SCN5A 6331 broad.mit.edu 37 3 38601732 38601732 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:38601732C>T uc003cio.2 - 23 4345 c.4151G>A c.(4150-4152)TGT>TAT p.C1384Y SCN5A_uc003cin.2_Missense_Mutation_p.C1383Y|SCN5A_uc003cil.3_Missense_Mutation_p.C1384Y|SCN5A_uc010hhi.2_Missense_Mutation_p.C1384Y|SCN5A_uc010hhk.2_Missense_Mutation_p.C1383Y|SCN5A_uc011ayr.1_Missense_Mutation_p.C1330Y|SCN5A_uc010hhj.1_Missense_Mutation_p.C994Y NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1384 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) CAAGGACTCACACTGGCTCTT 0.527 CCR3 1232 broad.mit.edu 37 3 46307472 46307472 + Missense_Mutation SNP C C T rs41276535 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:46307472C>T uc003cpg.1 + 4 1366 c.823C>T c.(823-825)CGG>TGG p.R275W CCR3_uc003cpi.1_Missense_Mutation_p.R275W|CCR3_uc003cpj.1_Missense_Mutation_p.R275W|CCR3_uc003cpk.1_Missense_Mutation_p.R296W|CCR3_uc010hjb.1_Missense_Mutation_p.R293W|CCR3_uc003cpl.1_Missense_Mutation_p.R308W NM_178329 NP_847899 P51677 CCR3_HUMAN CC chemokine receptor 3 isoform 1 275 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis integral to plasma membrane ovary(3)|lung(3)|breast(1)|kidney(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216) TGACTGTGAGCGGAGCAAGCA 0.483 MYL3 4634 broad.mit.edu 37 3 46902256 46902256 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:46902256A>G uc003cql.1 - 3 310 c.217T>C c.(217-219)TAC>CAC p.Y73H NM_000258 NP_000249 P08590 MYL3_HUMAN slow skeletal ventricular myosin alkali light 73 EF-hand 1. cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) CACTGCCCGTAGGTGATCTTC 0.607 NBEAL2 23218 broad.mit.edu 37 3 47037020 47037020 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:47037020C>T uc003cqp.2 + 13 1974 c.1795C>T c.(1795-1797)CCA>TCA p.P599S NBEAL2_uc003cqq.1_Missense_Mutation_p.P565S|NBEAL2_uc010hjm.1_Missense_Mutation_p.P160S NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 599 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) ACAGCGATGGCCAGGGCCTGG 0.622 C3orf75 54859 broad.mit.edu 37 3 47545907 47545907 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:47545907C>T uc003crk.2 - 4 355 c.236G>A c.(235-237)GGG>GAG p.G79E C3orf75_uc003crj.2_Missense_Mutation_p.G6E|C3orf75_uc011bba.1_Missense_Mutation_p.G30E|C3orf75_uc003crl.1_Missense_Mutation_p.G79E NM_001031703 NP_001026873 Q0PNE2 CC075_HUMAN transmembrane protein 103 79 0 CACAAGCTGCCCACGCTCCCG 0.547 PFKFB4 5210 broad.mit.edu 37 3 48559432 48559432 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:48559432C>T uc003ctv.2 - 13 1354 c.1337G>A c.(1336-1338)CGG>CAG p.R446Q PFKFB4_uc003ctw.2_Missense_Mutation_p.R255Q|PFKFB4_uc010hkc.2_Missense_Mutation_p.R411Q|PFKFB4_uc003ctx.2_Missense_Mutation_p.R403Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R439Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R435Q NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 446 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) AGGCCTGTCCCGGTGCGTGTT 0.587 COL7A1 1294 broad.mit.edu 37 3 48631879 48631879 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:48631879C>A uc003ctz.2 - 2 189 c.188G>T c.(187-189)GGG>GTG p.G63V NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 63 Nonhelical region (NC1).|VWFA 1. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGCACCAGCCCTTCGAGAAA 0.607 CELSR3 1951 broad.mit.edu 37 3 48698723 48698723 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:48698723C>A uc003cul.2 - 1 1626 c.1345G>T c.(1345-1347)GGC>TGC p.G449C CELSR3_uc003cuf.1_Missense_Mutation_p.G519C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 449 Extracellular (Potential).|Cadherin 2. 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) ATAGGGTAGCCCTCCTCCACA 0.677 NDUFAF3 25915 broad.mit.edu 37 3 49059586 49059586 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49059586C>A uc003cvq.2 + 1 513 c.9C>A c.(7-9)ACC>ACA p.T3T DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Intron|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Intron|NDUFAF3_uc003cvr.2_Intron|NDUFAF3_uc003cvs.2_5'UTR NM_199069 NP_951032 Q9BU61 NDUF3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 3 mitochondrial respiratory chain complex I assembly mitochondrial inner membrane|nucleus protein binding 0 CCATGGCCACCGCTCTCGCGC 0.706 OREG0015566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) USP19 10869 broad.mit.edu 37 3 49152674 49152674 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49152674G>T uc003cwd.1 - 12 1861 c.1700C>A c.(1699-1701)CCT>CAT p.P567H USP19_uc003cwa.2_Missense_Mutation_p.P375H|USP19_uc003cvz.3_Missense_Mutation_p.P670H|USP19_uc011bcg.1_Missense_Mutation_p.P658H|USP19_uc003cwb.2_Missense_Mutation_p.P653H|USP19_uc003cwc.1_Missense_Mutation_p.P325H|USP19_uc011bch.1_Missense_Mutation_p.P668H NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 567 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAACTTGGAAGGCTGGAAGGC 0.612 LAMB2 3913 broad.mit.edu 37 3 49160626 49160626 + Missense_Mutation SNP C C T rs146522641 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49160626C>T uc003cwe.2 - 26 4462 c.4163G>A c.(4162-4164)CGG>CAG p.R1388Q USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1388 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCAAGTGCCCGCTGGTTGGC 0.567 GMPPB 29925 broad.mit.edu 37 3 49760036 49760036 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49760036C>T uc003cxk.1 - 5 779 c.554G>A c.(553-555)CGC>CAC p.R185H AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.R185H NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 185 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CACCTGGATGCGCTGCAGCAC 0.607 HYAL3 8372 broad.mit.edu 37 3 50330720 50330720 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:50330720G>A uc003czd.1 - 4 1484 c.1211C>T c.(1210-1212)CCC>CTC p.P404L HYAL3_uc003czc.1_Missense_Mutation_p.P374L|HYAL3_uc003cze.1_Missense_Mutation_p.P155L|HYAL3_uc003czf.1_Missense_Mutation_p.P125L|HYAL3_uc003czg.1_Missense_Mutation_p.P374L|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank NM_003549 NP_003540 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 precursor 404 EGF-like. carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGGCAGGTGGGGCCAGCCCA 0.597 HYAL1 3373 broad.mit.edu 37 3 50340041 50340041 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:50340041G>A uc003czp.2 - 2 479 c.347C>T c.(346-348)GCC>GTC p.A116V HYAL1_uc003czm.2_5'UTR|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.A116V|HYAL1_uc003czr.2_Missense_Mutation_p.A116V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.A116V|HYAL1_uc003czt.2_Missense_Mutation_p.A116V NM_033159 NP_149349 Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 isoform 1 116 extracellular space|lysosome hyalurononglucosaminidase activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) AGCAGGTATGGCAGCCAGGAT 0.622 DOCK3 1795 broad.mit.edu 37 3 51395471 51395471 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:51395471T>C uc011bds.1 + 46 4870 c.4847T>C c.(4846-4848)ATT>ACT p.I1616T NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1616 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AAGAAGCTAATTGATCAGTTC 0.502 NISCH 11188 broad.mit.edu 37 3 52522247 52522247 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:52522247G>A uc011beg.1 + 17 2811 c.2739G>A c.(2737-2739)ACG>ACA p.T913T NISCH_uc003ded.3_Silent_p.T913T|NISCH_uc003dee.3_Silent_p.T402T|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 913 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGTTGCTCACGCCCCAGCACC 0.647 STAB1 23166 broad.mit.edu 37 3 52537421 52537421 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:52537421G>A uc003dej.2 + 8 830 c.756G>A c.(754-756)AAG>AAA p.K252K STAB1_uc003dei.1_Silent_p.K252K NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 252 EGF-like 4.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGAGCCCCAAGGGGCAGGCTC 0.642 ACTR8 93973 broad.mit.edu 37 3 53911737 53911737 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:53911737A>G uc003dhd.2 - 4 506 c.447T>C c.(445-447)GAT>GAC p.D149D ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_Silent_p.D38D NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 149 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CCGAACAGTGATCTAAAATTG 0.393 C3orf63 23272 broad.mit.edu 37 3 56667826 56667826 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:56667826A>G uc003did.3 - 17 2911 c.2810T>C c.(2809-2811)GTG>GCG p.V937A C3orf63_uc003dib.3_Missense_Mutation_p.V56A|C3orf63_uc003dic.3_Missense_Mutation_p.V561A|C3orf63_uc003die.3_Missense_Mutation_p.V998A NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) CTGCTCCTCCACCTGACCTGT 0.493 FLNB 2317 broad.mit.edu 37 3 58107205 58107205 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:58107205C>A uc003djj.2 + 20 3266 c.3101C>A c.(3100-3102)GCC>GAC p.A1034D FLNB_uc010hne.2_Missense_Mutation_p.A1034D|FLNB_uc003djk.2_Missense_Mutation_p.A1034D|FLNB_uc010hnf.2_Missense_Mutation_p.A1034D|FLNB_uc003djl.2_Missense_Mutation_p.A865D|FLNB_uc003djm.2_Missense_Mutation_p.A865D NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1034 Filamin 8. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACAGTGGAGGCCTCGCTGCCA 0.562 ACOX2 8309 broad.mit.edu 37 3 58512309 58512309 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:58512309C>A uc003dkl.2 - 10 1405 c.1230G>T c.(1228-1230)AGG>AGT p.R410S NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 410 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CGCCACAGGCCCTGCGGCACA 0.587 FEZF2 55079 broad.mit.edu 37 3 62357249 62357249 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:62357249G>T uc003dlh.2 - 2 1153 c.946C>A c.(946-948)CAG>AAG p.Q316K FEZF2_uc003dli.2_Missense_Mutation_p.Q316K NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 316 C2H2-type 2. transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) GTGCTGGCCTGGCGAAAGCCT 0.592 CNTN3 5067 broad.mit.edu 37 3 74474046 74474046 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:74474046C>T uc003dpm.1 - 4 484 c.404G>A c.(403-405)CGT>CAT p.R135H NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 135 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CTGGCCTTCACGCACAGACAC 0.398 ROBO1 6091 broad.mit.edu 37 3 78655965 78655965 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:78655965C>A uc003dqe.2 - 29 4870 c.4662G>T c.(4660-4662)CAG>CAT p.Q1554H ROBO1_uc003dqb.2_Missense_Mutation_p.Q1515H|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1454H|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1509H|ROBO1_uc010hoh.2_Missense_Mutation_p.Q746H|ROBO1_uc011bgl.1_Missense_Mutation_p.Q1126H NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1554 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTTGCTGTTCCTGTGCTTCTC 0.478 PROS1 5627 broad.mit.edu 37 3 93605341 93605341 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:93605341C>T uc003drb.3 - 11 1503 c.1162G>A c.(1162-1164)GTG>ATG p.V388M PROS1_uc010hoo.2_Missense_Mutation_p.V257M|PROS1_uc003dqz.3_Missense_Mutation_p.V257M NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 388 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AATTCTTCCACAGACACCTAC 0.299 ATP6V1A 523 broad.mit.edu 37 3 113503220 113503220 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:113503220G>T uc003eao.2 + 4 427 c.361G>T c.(361-363)GGA>TGA p.G121* ATP6V1A_uc011bik.1_Nonsense_Mutation_p.G88* NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 121 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 CATCCCCAGAGGAGTAAACGT 0.428 KIAA1407 57577 broad.mit.edu 37 3 113761605 113761605 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:113761605T>C uc003eax.2 - 4 507 c.360A>G c.(358-360)TCA>TCG p.S120S KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S98S|KIAA1407_uc011bip.1_Silent_p.S107S NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 120 ovary(2) 2 TAGTGACACTTGACACAGTGT 0.378 DRD3 1814 broad.mit.edu 37 3 113866314 113866314 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:113866314C>T uc003ebd.2 - 5 897 c.474G>A c.(472-474)TGG>TGA p.W158* DRD3_uc010hqn.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebb.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebc.1_Nonsense_Mutation_p.W158* NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 158 Helical; Name=4. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) AGGCCAGTACCCAGACGGCCG 0.542 STXBP5L 9515 broad.mit.edu 37 3 120976118 120976118 + Silent SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:120976118T>G uc003eec.3 + 17 1910 c.1770T>G c.(1768-1770)CTT>CTG p.L590L STXBP5L_uc011bji.1_Silent_p.L590L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 590 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) CAAGGAGTCTTTCTGGGAGCA 0.403 FBXO40 51725 broad.mit.edu 37 3 121345701 121345701 + Nonsense_Mutation SNP C C T rs146248987 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:121345701C>T uc003eeg.2 + 4 2284 c.2074C>T c.(2074-2076)CGA>TGA p.R692* NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 692 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) TGAGCAGGCCCGAGAGAGCTT 0.488 ADCY5 111 broad.mit.edu 37 3 123010154 123010154 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:123010154G>A uc003egh.1 - 18 3133 c.3133C>T c.(3133-3135)CCC>TCC p.P1045S ADCY5_uc003egg.1_Missense_Mutation_p.P703S NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 1045 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) ACGTCCTTGGGCAGGATGTTG 0.592 MYLK 4638 broad.mit.edu 37 3 123356957 123356957 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:123356957G>A uc003ego.2 - 29 5204 c.4922C>T c.(4921-4923)GCC>GTC p.A1641V MYLK_uc010hrr.2_Missense_Mutation_p.A76V|MYLK_uc011bjv.1_Missense_Mutation_p.A441V|MYLK_uc011bjw.1_Missense_Mutation_p.A1641V|MYLK_uc003egp.2_Missense_Mutation_p.A1572V|MYLK_uc003egq.2_Missense_Mutation_p.A1641V|MYLK_uc003egr.2_Missense_Mutation_p.A1572V|MYLK_uc003egs.2_Missense_Mutation_p.A1465V NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1641 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CATGTCTGTGGCGTAGCCGAT 0.572 MCM2 4171 broad.mit.edu 37 3 127327751 127327751 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:127327751T>A uc003ejp.2 + 8 1370 c.1313T>A c.(1312-1314)GTC>GAC p.V438D MCM2_uc011bkm.1_Missense_Mutation_p.V308D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V322D NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 438 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 TTTGCCACTGTCATCCTAGCC 0.522 GP9 2815 broad.mit.edu 37 3 128780678 128780678 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:128780678G>T uc003elm.2 + 3 283 c.96G>T c.(94-96)ATG>ATT p.M32I NM_000174 NP_000165 P14770 GPIX_HUMAN glycoprotein IX (platelet) precursor 32 Extracellular (Potential).|LRRNT. blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane protein binding 0 Quinine(DB00468) TGGAAACCATGGGGCTGTGGG 0.697 PLXND1 23129 broad.mit.edu 37 3 129324661 129324661 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:129324661C>T uc003emx.2 - 1 922 c.822G>A c.(820-822)CAG>CAA p.Q274Q NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 274 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CCAGCTTGTGCTGCTCCTTGG 0.677 COL6A6 131873 broad.mit.edu 37 3 130290188 130290188 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:130290188G>A uc010htl.2 + 6 2959 c.2928G>A c.(2926-2928)AAG>AAA p.K976K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 976 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GAGGTCTGAAGGGAATATTTT 0.453 PPP2R3A 5523 broad.mit.edu 37 3 135720391 135720391 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:135720391C>T uc003eqv.1 + 2 616 c.51C>T c.(49-51)AGC>AGT p.S17S PPP2R3A_uc011blz.1_Intron NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 17 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 ACTACAGCAGCGTGGTGATAG 0.438 MSL2 55167 broad.mit.edu 37 3 135870603 135870603 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:135870603C>T uc003eqx.1 - 2 1853 c.1120G>A c.(1120-1122)GTG>ATG p.V374M MSL2_uc011bmb.1_Missense_Mutation_p.V300M NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 374 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 TCCCGTTTCACTGTCACAGGA 0.438 PAQR9 344838 broad.mit.edu 37 3 142681687 142681687 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:142681687G>A uc003evg.2 - 1 492 c.492C>T c.(490-492)TAC>TAT p.Y164Y PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 164 Helical; (Potential). integral to membrane receptor activity 0 TGCCGAAGCCGTAGTAGCTGA 0.612 ZIC1 7545 broad.mit.edu 37 3 147128165 147128165 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:147128165A>C uc003ewe.2 + 1 985 c.266A>C c.(265-267)TAT>TCT p.Y89S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 89 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTCGGCTCCTATTCCAGCGCA 0.692 IGSF10 285313 broad.mit.edu 37 3 151165673 151165673 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:151165673C>T uc011bod.1 - 4 2096 c.2096G>A c.(2095-2097)CGT>CAT p.R699H NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 699 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAGATGTACGGAGTTGTGC 0.498 SLC7A14 57709 broad.mit.edu 37 3 170244705 170244705 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:170244705C>T uc003fgz.2 - 2 337 c.21G>A c.(19-21)TCG>TCA p.S7S CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 7 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) GGGGGTCCAGCGAGGTGAAGA 0.572 ZMAT3 64393 broad.mit.edu 37 3 178785312 178785312 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:178785312C>T uc003fjg.2 - 2 488 c.229G>A c.(229-231)GTC>ATC p.V77I ZMAT3_uc010hxa.2_Missense_Mutation_p.V77I|ZMAT3_uc003fji.2_Missense_Mutation_p.V77I NM_022470 NP_071915 Q9HA38 ZMAT3_HUMAN p53 target zinc finger protein isoform 1 77 Matrin-type 1. apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding ovary(2) 2 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) TTCAAGGTGACATTGCAGAGT 0.507 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) CHRD 8646 broad.mit.edu 37 3 184104636 184104636 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:184104636C>T uc003fov.2 + 17 2446 c.2200C>T c.(2200-2202)CGA>TGA p.R734* CHRD_uc003fow.2_Nonsense_Mutation_p.R364*|CHRD_uc003fox.2_Nonsense_Mutation_p.R734*|CHRD_uc003foy.2_Nonsense_Mutation_p.R364*|CHRD_uc010hyc.2_Nonsense_Mutation_p.R324*|CHRD_uc011brr.1_Nonsense_Mutation_p.R276* NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 734 VWFC 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGCAGAGACGAACGGTGAT 0.657 IGF2BP2 10644 broad.mit.edu 37 3 185367313 185367313 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:185367313G>A uc003fpo.2 - 14 1550 c.1471C>T c.(1471-1473)CGG>TGG p.R491W IGF2BP2_uc010hyi.2_Missense_Mutation_p.R434W|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R428W|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R355W|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R385W|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R448W|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R496W NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 491 KH 3. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CCAAAGATCCGTCCCTGGGCC 0.532 RTP1 132112 broad.mit.edu 37 3 186915332 186915332 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:186915332G>A uc003frg.2 + 1 59 c.29G>A c.(28-30)CGC>CAC p.R10H NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 10 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) TGGAGACTGCGCTGCCCTGCC 0.552 CLDN1 9076 broad.mit.edu 37 3 190030735 190030735 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:190030735A>G uc003fsh.2 - 2 534 c.314T>C c.(313-315)ATG>ACG p.M105T NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 105 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) CAAGCACTTCATACACTTCAT 0.517 RNF168 165918 broad.mit.edu 37 3 196198765 196198765 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:196198765G>A uc003fwq.2 - 6 2179 c.1641C>T c.(1639-1641)TCC>TCT p.S547S RNF168_uc010iah.2_Silent_p.S380S|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 547 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) GAGCACTTTTGGATACCTTAC 0.403 KIAA1530 57654 broad.mit.edu 37 4 1345607 1345607 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:1345607G>A uc003gde.3 + 4 981 c.534G>A c.(532-534)GCG>GCA p.A178A NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 178 Potential. 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CCAGCCAGGCGGAGAGGGAGA 0.562 OREG0016033 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LETM1 3954 broad.mit.edu 37 4 1843476 1843476 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:1843476G>T uc003gdv.2 - 3 489 c.192C>A c.(190-192)TCC>TCA p.S64S LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.S64S NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 64 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CGCCTCTGGAGGATGTGTACA 0.547 RGS12 6002 broad.mit.edu 37 4 3424244 3424244 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:3424244C>T uc003ggw.2 + 11 3884 c.2980C>T c.(2980-2982)CGG>TGG p.R994W RGS12_uc003ggv.2_Missense_Mutation_p.R994W|RGS12_uc003ggy.1_Missense_Mutation_p.R392W|RGS12_uc003ggz.2_Missense_Mutation_p.R346W|RGS12_uc010icu.1_Missense_Mutation_p.R193W|RGS12_uc011bvs.1_Missense_Mutation_p.R336W|RGS12_uc003gha.2_Missense_Mutation_p.R336W|RGS12_uc010icv.2_Missense_Mutation_p.R193W|RGS12_uc003ghb.2_Missense_Mutation_p.R193W NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 994 RBD 1. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACTCTGTGAGCGGCATGGCAT 0.647 EVC2 132884 broad.mit.edu 37 4 5667369 5667369 + Missense_Mutation SNP G G T rs138882677 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:5667369G>T uc003gij.2 - 8 932 c.878C>A c.(877-879)CCG>CAG p.P293Q EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.P213Q NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 293 integral to membrane large_intestine(3)|ovary(2) 5 GCCGTGGTGCGGCAGAACCTG 0.507 MAN2B2 23324 broad.mit.edu 37 4 6580170 6580170 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:6580170G>A uc003gjf.1 + 3 372 c.336G>A c.(334-336)CAG>CAA p.Q112Q MAN2B2_uc003gje.1_Silent_p.Q112Q|MAN2B2_uc011bwf.1_Silent_p.Q112Q NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 112 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 TCGGAGGCCAGGTCATGCATG 0.592 C4orf23 152992 broad.mit.edu 37 4 8465746 8465746 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:8465746T>C uc003glg.1 + 7 739 c.551T>C c.(550-552)TTC>TCC p.F184S C4orf23_uc003glf.1_Missense_Mutation_p.F172S|C4orf23_uc003glh.1_Missense_Mutation_p.F21S NM_152544 NP_689757 Q8IYL2 TRM44_HUMAN hypothetical protein LOC152992 isoform 2 413 tRNA processing cytoplasm methyltransferase activity|nucleic acid binding|zinc ion binding 0 AAGACCCTTTTCCCTGATGTT 0.423 NCAPG 64151 broad.mit.edu 37 4 17827008 17827008 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:17827008G>A uc003gpp.2 + 11 1653 c.1477G>A c.(1477-1479)GCT>ACT p.A493T NCAPG_uc011bxj.1_Missense_Mutation_p.A2T NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 493 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) CCCTTAGATGGCTGAAATAAA 0.313 PPARGC1A 10891 broad.mit.edu 37 4 23830112 23830112 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:23830112G>A uc003gqs.2 - 5 788 c.668C>T c.(667-669)ACC>ATC p.T223I PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 223 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) TGTGGGTTTGGTGTGAGGAGG 0.483 LGI2 55203 broad.mit.edu 37 4 25020788 25020788 + Splice_Site SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:25020788C>T uc003grf.2 - 5 584 c.485_splice c.e5+1 p.L162_splice NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 extracellular region 0 Breast(46;0.173) TCATTACTTACAGTTCAATCA 0.363 SLC34A2 10568 broad.mit.edu 37 4 25677886 25677886 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:25677886G>A uc003grr.2 + 13 1669 c.1588G>A c.(1588-1590)GTC>ATC p.V530I SLC34A2_uc003grs.2_Missense_Mutation_p.V529I|SLC34A2_uc010iev.2_Missense_Mutation_p.V529I NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 530 Helical; Name=M7; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CTGGTTCGCCGTCTTCTACCT 0.622 PCDH7 5099 broad.mit.edu 37 4 30724462 30724462 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:30724462C>T uc003gsk.1 + 1 2426 c.1418C>T c.(1417-1419)GCC>GTC p.A473V PCDH7_uc011bxw.1_Missense_Mutation_p.A426V|PCDH7_uc011bxx.1_Missense_Mutation_p.A473V NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 473 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 CTCAAGCCAGCCAGCGACACC 0.622 LIMCH1 22998 broad.mit.edu 37 4 41621327 41621327 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:41621327T>C uc003gvu.3 + 8 859 c.805T>C c.(805-807)TAC>CAC p.Y269H LIMCH1_uc003gvt.1_Missense_Mutation_p.Y110H|LIMCH1_uc003gvv.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gvz.3_Missense_Mutation_p.Y110H|LIMCH1_uc011byu.1_Missense_Mutation_p.Y115H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Y115H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Y115H|LIMCH1_uc011byv.1_Missense_Mutation_p.Y20H|LIMCH1_uc003gwb.1_Missense_Mutation_p.Y117H NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 269 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 TTTTAACCAGTACCTCCCGAA 0.547 RASL11B 65997 broad.mit.edu 37 4 53728795 53728795 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:53728795G>A uc003gzt.2 + 1 301 c.121G>A c.(121-123)GCC>ACC p.A41T NM_023940 NP_076429 Q9BPW5 RSLBB_HUMAN RAS-like family 11 member B 41 Small GTPase-like.|GTP (By similarity). small GTPase mediated signal transduction membrane GTP binding|GTPase activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0302) CGTGGTGGGCGCCAGCGGCGT 0.721 LPHN3 23284 broad.mit.edu 37 4 62453016 62453016 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:62453016C>A uc010ihh.2 + 2 300 c.127C>A c.(127-129)CTT>ATT p.L43I LPHN3_uc003hcq.3_Missense_Mutation_p.L43I|LPHN3_uc010ihg.1_Missense_Mutation_p.L111I NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 43 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TCCTATAGAGCTTCGCTGTCC 0.478 AFP 174 broad.mit.edu 37 4 74308075 74308075 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:74308075C>T uc003hgz.1 + 5 592 c.545C>T c.(544-546)GCT>GTT p.A182V AFP_uc003hha.1_Missense_Mutation_p.A182V|AFP_uc011cbg.1_5'UTR NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 182 Albumin 1. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTTCTTTGGGCTGCTCGCTAT 0.378 Alpha-Fetoprotein_Hereditary_Persistence_of PRDM8 56978 broad.mit.edu 37 4 81123123 81123123 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:81123123C>A uc010ijo.2 + 8 1346 c.507C>A c.(505-507)CCC>CCA p.P169P PRDM8_uc003hmb.3_Silent_p.P169P|PRDM8_uc003hmc.3_Silent_p.P169P NM_020226 NP_064611 Q9NQV8 PRDM8_HUMAN PR domain containing 8 169 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTGAGTTCCCCTATGTGGCGC 0.388 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SMARCAD1 56916 broad.mit.edu 37 4 95185970 95185970 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:95185970T>A uc003htc.3 + 10 1649 c.1394T>A c.(1393-1395)ATT>AAT p.I465N SMARCAD1_uc003htb.3_Missense_Mutation_p.I465N|SMARCAD1_uc003htd.3_Missense_Mutation_p.I465N|SMARCAD1_uc010ila.2_Missense_Mutation_p.I328N|SMARCAD1_uc011cdw.1_Missense_Mutation_p.I35N NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 465 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGTGAAGACATTTCAAATAAA 0.348 ADH5 128 broad.mit.edu 37 4 100003128 100003128 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:100003128G>A uc003hui.2 - 3 334 c.254C>T c.(253-255)GCG>GTG p.A85V ADH5_uc003huk.1_Missense_Mutation_p.A85V|ADH5_uc003huj.2_5'UTR NM_000671 NP_000662 P11766 ADHX_HUMAN class III alcohol dehydrogenase, chi subunit 85 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) CTCCTTACCCGCCTTCAGCTT 0.408 KIAA1109 84162 broad.mit.edu 37 4 123277081 123277081 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:123277081A>G uc003ieh.2 + 81 14481 c.14436A>G c.(14434-14436)TTA>TTG p.L4812L KIAA1109_uc003iem.2_Silent_p.L1168L NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4812 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCTTTGCATTACCAAGGATGC 0.363 BBS12 166379 broad.mit.edu 37 4 123664512 123664512 + Missense_Mutation SNP G G A rs145489987 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:123664512G>A uc003ieu.2 + 2 1658 c.1465G>A c.(1465-1467)GCA>ACA p.A489T NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 489 cellular protein metabolic process cilium ATP binding ovary(2) 2 CAACAGAATCGCAATCTTATT 0.438 Bardet-Biedl_syndrome FAT4 79633 broad.mit.edu 37 4 126241924 126241924 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:126241924G>A uc003ifj.3 + 1 4358 c.4358G>A c.(4357-4359)GGT>GAT p.G1453D NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1453 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G1453G(1) ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACATTAATGGTCAACTATCC 0.398 FAT4 79633 broad.mit.edu 37 4 126370814 126370814 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:126370814C>T uc003ifj.3 + 9 8643 c.8643C>T c.(8641-8643)TGC>TGT p.C2881C FAT4_uc011cgp.1_Silent_p.C1179C|FAT4_uc003ifi.1_Silent_p.C359C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2881 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ATTTAGATTGCCCTGAACTTA 0.373 PLK4 10733 broad.mit.edu 37 4 128808580 128808580 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:128808580C>T uc003ifo.2 + 6 1633 c.1388C>T c.(1387-1389)CCT>CTT p.P463L PLK4_uc011cgs.1_Missense_Mutation_p.P431L|PLK4_uc011cgt.1_Missense_Mutation_p.P422L NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 463 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GGAAAAACTCCTTTTCCATTT 0.328 PHF17 79960 broad.mit.edu 37 4 129773269 129773269 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:129773269G>A uc003igk.2 + 6 822 c.542G>A c.(541-543)CGA>CAA p.R181Q PHF17_uc003igj.2_Missense_Mutation_p.R181Q|PHF17_uc003igl.2_Missense_Mutation_p.R169Q|PHF17_uc011cgy.1_Missense_Mutation_p.R181Q|PHF17_uc003igm.2_Missense_Mutation_p.R181Q NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 181 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 TTTGAGCAGCGATGCTACGAC 0.428 PCDH10 57575 broad.mit.edu 37 4 134072703 134072703 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:134072703G>A uc003iha.2 + 1 2234 c.1408G>A c.(1408-1410)GTG>ATG p.V470M uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470M NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 470 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGTCTACGACGTGTATGTGAC 0.617 SLC10A7 84068 broad.mit.edu 37 4 147363969 147363969 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:147363969G>A uc010ioz.2 - 5 655 c.401C>T c.(400-402)GCT>GTT p.A134V SLC10A7_uc003ikr.2_Missense_Mutation_p.A134V|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.A134V NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 134 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) AAATATTGCAGCTGCCTATGA 0.299 NR3C2 4306 broad.mit.edu 37 4 149357499 149357499 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:149357499C>T uc003ilj.3 - 2 848 c.514G>A c.(514-516)GTG>ATG p.V172M NR3C2_uc003ilk.3_Missense_Mutation_p.V172M|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 172 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CCACCATTCACGGAGCTCCCA 0.483 FGA 2243 broad.mit.edu 37 4 155505317 155505317 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:155505317T>C uc003iod.1 - 6 2618 c.2560A>G c.(2560-2562)AGG>GGG p.R854G NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 854 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CGAACAGCCCTGAGGGAATAA 0.483 GRIA2 2891 broad.mit.edu 37 4 158281222 158281222 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:158281222G>A uc003ipm.3 + 13 2677 c.2218G>A c.(2218-2220)GAC>AAC p.D740N GRIA2_uc011cit.1_Missense_Mutation_p.D693N|GRIA2_uc003ipl.3_Missense_Mutation_p.D740N|GRIA2_uc003ipk.3_Missense_Mutation_p.D693N|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.D50N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.D50N|GRIA2_uc011ciy.1_Missense_Mutation_p.D50N|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 740 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) GAAGCCTTGCGACACCATGAA 0.478 TMEM144 55314 broad.mit.edu 37 4 159140505 159140505 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:159140505C>T uc003ipx.2 + 6 896 c.376C>T c.(376-378)CTG>TTG p.L126L TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 126 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) ATCAAATCCGCTGCTAAATTA 0.353 TKTL2 84076 broad.mit.edu 37 4 164394290 164394290 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:164394290G>A uc003iqp.3 - 1 758 c.597C>T c.(595-597)GGC>GGT p.G199G NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 199 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AGATGTCTGCGCCATGCTCAA 0.517 TLL1 7092 broad.mit.edu 37 4 166915567 166915567 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:166915567A>G uc003irh.1 + 4 1043 c.396A>G c.(394-396)GTA>GTG p.V132V TLL1_uc011cjn.1_Silent_p.V132V|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 132 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AGGGAAAAGTACCTCTACAAT 0.408 GALNTL6 442117 broad.mit.edu 37 4 172735857 172735857 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:172735857C>T uc003isv.2 + 2 862 c.126C>T c.(124-126)CCC>CCT p.P42P NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 42 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 CAGCGGAGCCCGGGGAGCAGC 0.547 KLKB1 3818 broad.mit.edu 37 4 187155141 187155141 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:187155141C>T uc003iyy.2 + 4 328 c.257C>T c.(256-258)ACC>ATC p.T86I KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.T48I NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 86 Apple 1. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) GTTACAGGAACCCTGCCAAAA 0.358 MTNR1A 4543 broad.mit.edu 37 4 187455439 187455439 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:187455439G>A uc003izd.1 - 2 475 c.457C>T c.(457-459)CTC>TTC p.L153F NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 153 Helical; Name=4; (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) AGCGTCAGGAGCCATATGAGG 0.602 FAT1 2195 broad.mit.edu 37 4 187530381 187530381 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:187530381C>T uc003izf.2 - 16 10350 c.10162G>A c.(10162-10164)GTC>ATC p.V3388I NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3388 Extracellular (Potential).|Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCTCCCCTGACGGGGTCAATT 0.443 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187557246 187557246 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:187557246G>T uc003izf.2 - 6 4304 c.4116C>A c.(4114-4116)CCC>CCA p.P1372P NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1372 Extracellular (Potential).|Cadherin 12. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGTGAGCAACGGGGTCACTTT 0.458 HNSCC(5;0.00058) FAT1 2195 broad.mit.edu 37 4 187557926 187557926 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:187557926C>T uc003izf.2 - 5 3973 c.3785G>A c.(3784-3786)CGA>CAA p.R1262Q NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1262 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ATTTCTTTCTCGGTCTGGCTT 0.478 HNSCC(5;0.00058) SLC9A3 6550 broad.mit.edu 37 5 485314 485314 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:485314C>T uc003jbe.2 - 4 820 c.708G>A c.(706-708)GCG>GCA p.A236A SLC9A3_uc011clx.1_Silent_p.A236A NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 236 Extracellular (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CACCTCCCAGCGCCACGAAAG 0.632 TPPP 11076 broad.mit.edu 37 5 666085 666085 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:666085C>A uc003jbg.3 - 2 1183 c.465G>T c.(463-465)ACG>ACT p.T155T TPPP_uc003jbh.3_Silent_p.T155T NM_007030 NP_008961 O94811 TPPP_HUMAN tubulin polymerization promoting protein 155 microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization nucleus|perinuclear region of cytoplasm|soluble fraction calcium ion binding|microtubule binding 0 Ovarian(839;0.0563) Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GBM - Glioblastoma multiforme(108;0.0191) cccTGCTCACCGTCACCCCTG 0.373 IRX2 153572 broad.mit.edu 37 5 2749036 2749036 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:2749036G>A uc003jda.2 - 3 1028 c.786C>T c.(784-786)GAC>GAT p.D262D IRX2_uc003jdb.2_Silent_p.D262D NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 262 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CGTCCTCCAGGTCGTCATACT 0.706 IRX2 153572 broad.mit.edu 37 5 2749798 2749798 + Missense_Mutation SNP C C G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:2749798C>G uc003jda.2 - 2 595 c.353G>C c.(352-354)CGC>CCC p.R118P C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.R118P NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 118 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GGCGTTCTTGCGGTACGCGGG 0.672 ADCY2 108 broad.mit.edu 37 5 7727281 7727281 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:7727281G>A uc003jdz.1 + 14 1845 c.1778G>A c.(1777-1779)CGG>CAG p.R593Q ADCY2_uc011cmo.1_Missense_Mutation_p.R413Q NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 593 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 CCTCAGTACCGGGCCACGGCA 0.507 FAM105B 90268 broad.mit.edu 37 5 14693056 14693056 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:14693056C>T uc003jfk.2 + 7 1110 c.958C>T c.(958-960)CCC>TCC p.P320S NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 320 ovary(2) 2 Lung NSC(4;0.00696) CACAGTCTACCCCACCGACCC 0.537 PDZD2 23037 broad.mit.edu 37 5 32073990 32073990 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:32073990C>T uc003jhl.2 + 18 3166 c.2778C>T c.(2776-2778)AGC>AGT p.S926S PDZD2_uc003jhm.2_Silent_p.S926S|PDZD2_uc011cnx.1_Silent_p.S752S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 926 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTCTTGGGAGCCATCGGGCTT 0.587 GOLPH3 64083 broad.mit.edu 37 5 32126337 32126337 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:32126337A>G uc003jhp.1 - 4 1163 c.878T>C c.(877-879)GTG>GCG p.V293A NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 293 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding ovary(1) 1 GAACGCCGCCACCACCGCCCA 0.483 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:32407029A>T uc003jhr.1 - 6 962 c.882T>A c.(880-882)GCT>GCA p.A294A ZFR_uc010iun.1_Silent_p.A294A NM_016107 NP_057191 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 294 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(35;0.19) cagcagcagcagctgctgctg 0.294 LIFR 3977 broad.mit.edu 37 5 38504084 38504084 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:38504084T>G uc010ive.1 - 10 1763 c.1431A>C c.(1429-1431)CAA>CAC p.Q477H LIFR_uc003jli.2_Missense_Mutation_p.Q477H NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 477 Extracellular (Potential).|Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TTACCTGCTCTTGTACTGAAT 0.284 T PLAG1 salivary adenoma HEATR7B2 133558 broad.mit.edu 37 5 41000384 41000384 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:41000384G>A uc003jmj.3 - 39 4910 c.4420C>T c.(4420-4422)CGT>TGT p.R1474C HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1029C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1474 binding ovary(6)|central_nervous_system(2) 8 TCAAGGAGACGGTCTAATACC 0.502 C5orf39 389289 broad.mit.edu 37 5 43039978 43039978 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:43039978A>G uc003jnf.2 - 1 470 c.171T>C c.(169-171)CTT>CTC p.L57L C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank NM_001014279 NP_001014301 Q3ZCQ2 AX2R_HUMAN annexin II receptor 57 receptor activity 0 AAGGGCTGGAAAGCAGTCCCA 0.552 OREG0016598 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIF2A 3796 broad.mit.edu 37 5 61669536 61669536 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:61669536C>A uc003jsy.3 + 17 1980 c.1669C>A c.(1669-1671)CCA>ACA p.P557T KIF2A_uc003jsz.3_Missense_Mutation_p.P595T|KIF2A_uc010iwp.2_Missense_Mutation_p.P538T|KIF2A_uc003jsx.3_Missense_Mutation_p.P537T|KIF2A_uc010iwq.2_Missense_Mutation_p.P360T NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 557 blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GACTGTAGATCCAACTGCTGC 0.423 IPO11 51194 broad.mit.edu 37 5 61821993 61821993 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:61821993C>A uc003jtc.2 + 21 2111 c.1921C>A c.(1921-1923)CTG>ATG p.L641M IPO11_uc011cqr.1_Missense_Mutation_p.L681M|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Intron NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 641 HEAT 9. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) CAGCAAGAACCTGTACCCTTT 0.393 CWC27 10283 broad.mit.edu 37 5 64267563 64267563 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:64267563A>G uc003jtn.1 + 12 1295 c.1076A>G c.(1075-1077)GAA>GGA p.E359G CWC27_uc010iwt.1_Missense_Mutation_p.E359G NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 359 Potential. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 GCTGTTGCCGAATACAGAAGA 0.388 CENPH 64946 broad.mit.edu 37 5 68487667 68487667 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:68487667G>A uc003jvp.2 + 2 267 c.180G>A c.(178-180)ATG>ATA p.M60I uc003jvn.1_5'Flank|uc003jvo.3_5'Flank|CENPH_uc010ixc.2_Missense_Mutation_p.M60I NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN centromere protein H 60 Potential. cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding large_intestine(1) 1 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) ATAAATCAATGGTTGATGCAA 0.199 GFM2 84340 broad.mit.edu 37 5 74041649 74041649 + Missense_Mutation SNP C C T rs146259893 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:74041649C>T uc003kdh.1 - 10 1007 c.703G>A c.(703-705)GTG>ATG p.V235M GFM2_uc003kdi.1_Missense_Mutation_p.V235M|GFM2_uc010izj.1_Missense_Mutation_p.V267M|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.V235M|GFM2_uc010izl.1_Missense_Mutation_p.V193M NM_032380 NP_115756 Q969S9 RRF2M_HUMAN mitochondrial elongation factor G2 isoform 1 235 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity 0 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) ACATCCACCACTCCTTTGAAA 0.358 VCAN 1462 broad.mit.edu 37 5 82815900 82815900 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:82815900C>T uc003kii.3 + 7 2131 c.1775C>T c.(1774-1776)ACT>ATT p.T592I VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T592I|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 592 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) ACCATCCACACTCATTTAGAA 0.423 VCAN 1462 broad.mit.edu 37 5 82832916 82832916 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:82832916A>G uc003kii.3 + 8 4450 c.4094A>G c.(4093-4095)CAT>CGT p.H1365R VCAN_uc003kij.3_Missense_Mutation_p.H378R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H29R NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1365 GAG-beta. 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) GATCCAGTGCATGATCTAATG 0.308 ELL2 22936 broad.mit.edu 37 5 95236414 95236414 + Missense_Mutation SNP C C T rs150945042 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:95236414C>T uc003klr.3 - 7 1287 c.937G>A c.(937-939)GCT>ACT p.A313T NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 313 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) GAAGATACAGCGTCTCTACTA 0.269 ERAP1 51752 broad.mit.edu 37 5 96126301 96126301 + Missense_Mutation SNP C C T rs150674566 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:96126301C>T uc003kmm.2 - 9 1713 c.1366G>A c.(1366-1368)GCA>ACA p.A456T ERAP1_uc003kml.2_Missense_Mutation_p.A456T|ERAP1_uc010jbm.1_Missense_Mutation_p.A268T|ERAP1_uc003kmn.2_Missense_Mutation_p.A456T NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 456 Lumenal (Potential). angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CTTTTAAATGCGTCAGCACTA 0.348 ST8SIA4 7903 broad.mit.edu 37 5 100191819 100191819 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:100191819T>C uc003knk.2 - 4 1113 c.785A>G c.(784-786)CAT>CGT p.H262R NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 262 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) TCTGACAGCATGAATAAGTCT 0.413 ST8SIA4 7903 broad.mit.edu 37 5 100238656 100238656 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:100238656G>A uc003knk.2 - 1 332 c.4C>T c.(4-6)CGC>TGC p.R2C ST8SIA4_uc003knl.2_Missense_Mutation_p.R2C NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 2 Cytoplasmic (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) CTAATGGAGCGCATCTTGGGT 0.507 KCNN2 3781 broad.mit.edu 37 5 113822861 113822861 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:113822861C>T uc003kqo.2 + 6 1826 c.1369C>T c.(1369-1371)CAA>TAA p.Q457* KCNN2_uc003kqp.2_Nonsense_Mutation_p.Q109*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 457 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AAAATTCCTGCAAGCTATTCA 0.323 GDF9 2661 broad.mit.edu 37 5 132198189 132198189 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:132198189A>C uc003kxz.1 - 2 709 c.457T>G c.(457-459)TTA>GTA p.L153V GDF9_uc011cxj.1_Missense_Mutation_p.L65V NM_005260 NP_005251 O60383 GDF9_HUMAN growth differentiation factor 9 precursor 153 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity skin(1) 1 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACTTGAGTAAGTGTTCAACG 0.383 C5orf15 56951 broad.mit.edu 37 5 133295584 133295584 + Silent SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:133295584A>T uc003kyo.2 - 2 398 c.267T>A c.(265-267)CCT>CCA p.P89P NM_020199 NP_064584 Q8NC54 KCT2_HUMAN keratinocytes associated transmembrane protein 2 89 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TCGTCGTGGGAGGGAGGGTGG 0.463 CAMLG 819 broad.mit.edu 37 5 134077026 134077026 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:134077026G>A uc003kzt.2 + 2 551 c.446G>A c.(445-447)CGC>CAC p.R149H CAMLG_uc003kzu.2_Intron NM_001745 NP_001736 P49069 CAMLG_HUMAN calcium modulating ligand 149 Cytoplasmic (Potential). defense response endoplasmic reticulum|integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) AGGGGTTCCCGCCATGGCCTA 0.507 SPOCK1 6695 broad.mit.edu 37 5 136834106 136834106 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:136834106C>T uc003lbo.2 - 1 333 c.142G>A c.(142-144)GTC>ATC p.V48I SPOCK1_uc003lbp.2_Missense_Mutation_p.V48I NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 48 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TACTGGGAGACGGTGCTCAGC 0.682 SLC4A9 83697 broad.mit.edu 37 5 139747324 139747324 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:139747324T>C uc003lfm.2 + 16 2302 c.2267T>C c.(2266-2268)CTG>CCG p.L756P SLC4A9_uc003lfj.2_Missense_Mutation_p.L732P|SLC4A9_uc011czg.1_Missense_Mutation_p.L669P|SLC4A9_uc003lfl.2_Missense_Mutation_p.L732P|SLC4A9_uc003lfk.2_Missense_Mutation_p.L718P NM_031467 NP_113655 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate 756 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity large_intestine(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTTCCACCTGGACCTCTTC 0.587 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139887548 139887548 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:139887548C>A uc003lfs.1 + 20 3854 c.3730C>A c.(3730-3732)CTG>ATG p.L1244M ANKHD1_uc003lfq.1_Missense_Mutation_p.L1263M|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1244M|ANKHD1_uc003lft.1_Missense_Mutation_p.L455M|ANKHD1_uc003lfu.1_Missense_Mutation_p.L724M|ANKHD1_uc003lfv.1_Missense_Mutation_p.L321M|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1_uc003lfw.2_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1244 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGTTTGCTTCTGGACCGAAA 0.433 PCDHA3 56145 broad.mit.edu 37 5 140182444 140182444 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140182444C>T uc003lhf.2 + 1 1662 c.1662C>T c.(1660-1662)TTC>TTT p.F554F PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.F554F NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 554 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTGTTCGTGCTGGACG 0.687 PCDHA12 56137 broad.mit.edu 37 5 140255709 140255709 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140255709G>A uc003lic.2 + 1 779 c.652G>A c.(652-654)GGT>AGT p.G218S 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_uc011daf.1_Missense_Mutation_p.G218S NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 218 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AATCGATGGCGGTAAACCAGA 0.398 PCDHAC2 56134 broad.mit.edu 37 5 140389267 140389267 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140389267C>A uc003lii.2 + 4 3009 c.2769C>A c.(2767-2769)AGC>AGA p.S923R PCDHA1_uc003lha.2_Missense_Mutation_p.S602R|PCDHA1_uc003lhb.2_Missense_Mutation_p.S866R|PCDHA2_uc003lhd.2_Missense_Mutation_p.S864R|PCDHA3_uc003lhf.2_Missense_Mutation_p.S866R|PCDHA4_uc003lhi.2_Missense_Mutation_p.S863R|PCDHA4_uc003lhh.1_Missense_Mutation_p.S863R|PCDHA5_uc003lhk.1_Missense_Mutation_p.S852R|PCDHA5_uc003lhl.2_Missense_Mutation_p.S852R|PCDHA6_uc003lhn.2_Missense_Mutation_p.S602R|PCDHA6_uc003lho.2_Missense_Mutation_p.S866R|PCDHA7_uc003lhq.2_Missense_Mutation_p.S853R|PCDHA8_uc003lhs.2_Missense_Mutation_p.S866R|PCDHA9_uc003lhu.2_Missense_Mutation_p.S866R|PCDHA10_uc003lhw.2_Missense_Mutation_p.S601R|PCDHA10_uc003lhx.2_Missense_Mutation_p.S864R|PCDHA11_uc003lia.2_Missense_Mutation_p.S865R|PCDHA12_uc003lic.2_Missense_Mutation_p.S857R|PCDHA13_uc003lie.1_Missense_Mutation_p.S866R|PCDHA13_uc003lif.2_Missense_Mutation_p.S866R|PCDHAC1_uc003lih.2_Missense_Mutation_p.S879R NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 923 4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGCAACAGCTGGACCTTTA 0.502 PCDHB9 56127 broad.mit.edu 37 5 140569061 140569061 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140569061C>T uc003liw.1 + 3 2170 c.2170C>T c.(2170-2172)CGC>TGC p.R724C PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 724 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGGTGGGTCGCTGCTCGGT 0.667 PCDHB12 56124 broad.mit.edu 37 5 140589598 140589598 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140589598A>C uc003liz.2 + 1 1308 c.1119A>C c.(1117-1119)AGA>AGC p.R373S PCDHB12_uc011dak.1_Missense_Mutation_p.R36S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 373 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACGAGACAGAGACTCTGGGG 0.433 PCDHB13 56123 broad.mit.edu 37 5 140594909 140594909 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140594909C>T uc003lja.1 + 1 1401 c.1214C>T c.(1213-1215)ACG>ATG p.T405M NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 405 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCCTACTAACGGAGAGACCA 0.453 PCDHGA7 56108 broad.mit.edu 37 5 140764513 140764513 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140764513G>A uc003lka.1 + 1 2047 c.2047G>A c.(2047-2049)GGT>AGT p.G683S 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G683S|PCDHGB4_uc011dav.1_5'Flank NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 683 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) GCCCTCCGACGGTCCTTACAA 0.627 PCDHGA7 56108 broad.mit.edu 37 5 140764701 140764701 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140764701G>T uc003lka.1 + 1 2235 c.2235G>T c.(2233-2235)GGG>GGT p.G745G 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.G745G|PCDHGB4_uc011dav.1_5'Flank NM_018920 NP_061743 Q9Y5G6 PCDG7_HUMAN protocadherin gamma subfamily A, 7 isoform 1 745 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) GCATGGACGGGGTGCAGGCTT 0.617 PCDHGA9 56107 broad.mit.edu 37 5 140784497 140784497 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140784497C>T uc003lkh.1 + 1 1978 c.1978C>T c.(1978-1980)CTC>TTC p.L660F 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.L660F NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 660 Cadherin 6.|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) CACTGTCACGCTCACAGTAGC 0.602 PCDHGA11 56105 broad.mit.edu 37 5 140802769 140802769 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140802769G>A uc003lkq.1 + 1 2233 c.1975G>A c.(1975-1977)GTC>ATC p.V659I 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|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.V659I|PCDHGA11_uc003lkp.1_Intron NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 659 Extracellular (Potential).|Cadherin 6. 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) CTCGGCCACCGTCACGCTCAC 0.672 ARAP3 64411 broad.mit.edu 37 5 141050954 141050954 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:141050954G>T uc003llm.2 - 13 1946 c.1868C>A c.(1867-1869)GCT>GAT p.A623D ARAP3_uc011dbe.1_Missense_Mutation_p.A285D|ARAP3_uc003lln.2_Missense_Mutation_p.A545D NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 623 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 TCTTGCCACAGCTGCACACAG 0.587 SH3RF2 153769 broad.mit.edu 37 5 145439617 145439617 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:145439617C>A uc003lnt.2 + 9 1982 c.1744C>A c.(1744-1746)CTC>ATC p.L582I SH3RF2_uc011dbl.1_Missense_Mutation_p.L582I|SH3RF2_uc011dbm.1_Missense_Mutation_p.L67I|SH3RF2_uc003lnu.2_Missense_Mutation_p.L73I|SH3RF2_uc011dbn.1_Missense_Mutation_p.L73I|SH3RF2_uc011dbo.1_Missense_Mutation_p.L39I NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 582 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCCCGCCCTCACGTGCAT 0.627 SH3TC2 79628 broad.mit.edu 37 5 148386498 148386498 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:148386498C>T uc003lpu.2 - 16 3773 c.3621G>A c.(3619-3621)CTG>CTA p.L1207L SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L851L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L754L|SH3TC2_uc010jgx.2_Silent_p.L1200L NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1207 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCATAGTACAGGGCCTCCT 0.552 CAMK2A 815 broad.mit.edu 37 5 149602570 149602570 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:149602570G>A uc003lru.2 - 17 1630 c.1415C>T c.(1414-1416)GCG>GTG p.A472V CAMK2A_uc003lrs.2_Missense_Mutation_p.A183V|CAMK2A_uc003lrt.2_Missense_Mutation_p.A483V NM_171825 NP_741960 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II 472 interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1) 1 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGGAGGGCGCCCCAGATCT 0.642 GALNT10 55568 broad.mit.edu 37 5 153789220 153789220 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:153789220C>T uc003lvh.2 + 9 1416 c.1284C>T c.(1282-1284)AGC>AGT p.S428S GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.S269S|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.S99S NM_198321 NP_938080 Q86SR1 GLT10_HUMAN GalNAc transferase 10 isoform a 428 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) agctccgcagctcccttaact 0.328 NIPAL4 348938 broad.mit.edu 37 5 156899454 156899454 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:156899454T>C uc003lwx.3 + 6 1003 c.887T>C c.(886-888)ATC>ACC p.I296T ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.I277T NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 296 Helical; (Potential). integral to membrane receptor activity 0 TGCTCTGTGATCGGGGCCTTC 0.557 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) EBF1 1879 broad.mit.edu 37 5 158524021 158524021 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:158524021G>A uc010jip.2 - 2 554 c.252C>T c.(250-252)ATC>ATT p.I84I EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Silent_p.I84I|EBF1_uc003lxl.3_Silent_p.I84I NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 84 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGTCCTCTCGATCTCCACGG 0.627 T HMGA2 lipoma RNF145 153830 broad.mit.edu 37 5 158601022 158601022 + Missense_Mutation SNP G G A rs139327325 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:158601022G>A uc003lxp.2 - 6 1079 c.766C>T c.(766-768)CGT>TGT p.R256C RNF145_uc011ddy.1_Missense_Mutation_p.R270C|RNF145_uc003lxo.1_Missense_Mutation_p.R284C|RNF145_uc011ddz.1_Missense_Mutation_p.R273C|RNF145_uc010jiq.1_Missense_Mutation_p.R286C|RNF145_uc011dea.1_Missense_Mutation_p.R272C NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 256 integral to membrane zinc ion binding ovary(3)|lung(1)|skin(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGCCTCTCACGTGATGCAGGC 0.368 IL12B 3593 broad.mit.edu 37 5 158743807 158743807 + Silent SNP C C A rs144356274 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:158743807C>A uc003lxr.1 - 7 915 c.873G>T c.(871-873)ACG>ACT p.T291T NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 291 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGTCTTGTCCGTGAAGACTC 0.517 OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLIT3 6586 broad.mit.edu 37 5 168187941 168187941 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:168187941C>T uc003mab.2 - 16 2031 c.1611G>A c.(1609-1611)CTG>CTA p.L537L SLIT3_uc010jjg.2_Silent_p.L537L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 537 LRR 12. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATTCAGTCGCCTGTGTAGGA 0.532 GABRP 2568 broad.mit.edu 37 5 170215633 170215633 + Missense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:170215633T>A uc003mau.2 + 2 212 c.14T>A c.(13-15)CTC>CAC p.L5H GABRP_uc011dev.1_Missense_Mutation_p.L5H NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 5 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AACTACAGCCTCCACTTGGCC 0.547 NSD1 64324 broad.mit.edu 37 5 176673788 176673788 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:176673788A>G uc003mfr.3 + 10 4626 c.4488A>G c.(4486-4488)CCA>CCG p.P1496P NSD1_uc003mft.3_Silent_p.P1227P|NSD1_uc003mfs.1_Silent_p.P1393P|NSD1_uc011dfx.1_Silent_p.P1144P NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1496 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAGAGATTCCAGGCTCAGAGG 0.428 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) RGS14 10636 broad.mit.edu 37 5 176793200 176793200 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:176793200C>A uc003mgf.2 + 3 272 c.90C>A c.(88-90)CCC>CCA p.P30P RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 30 chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGACGGGGCCCCAGGGCCAGG 0.692 ADAMTS2 9509 broad.mit.edu 37 5 178557097 178557097 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:178557097C>T uc003mjw.2 - 16 2293 c.2293G>A c.(2293-2295)GTC>ATC p.V765I NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 765 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGGTTCTTGACGGCTGAGAAT 0.567 FLT4 2324 broad.mit.edu 37 5 180043407 180043407 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:180043407C>T uc003mma.3 - 23 3258 c.3179G>A c.(3178-3180)CGG>CAG p.R1060Q FLT4_uc003mlz.3_Missense_Mutation_p.R1060Q NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1060 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GTAGATGTCCCGGGCAAGGCC 0.612 Congenital_Hereditary_Lymphedema TRIM41 90933 broad.mit.edu 37 5 180661483 180661483 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:180661483G>A uc003mne.1 + 6 2295 c.1601G>A c.(1600-1602)CGC>CAC p.R534H TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Missense_Mutation_p.R114H NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 534 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACCATCGCCGCCGCCGGCTC 0.667 HUS1B 135458 broad.mit.edu 37 6 656464 656464 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:656464G>A uc003mtg.2 - 1 501 c.481C>T c.(481-483)CGC>TGC p.R161C EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN HUS1 checkpoint protein B 161 0 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GTCCTCCAGCGCGGCAGGCGG 0.667 C6orf146 222826 broad.mit.edu 37 6 4069468 4069468 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:4069468A>G uc003mvx.2 - 7 1329 c.989T>C c.(988-990)GTG>GCG p.V330A C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.V267A NM_173563 NP_775834 Q8IXS0 CF146_HUMAN hypothetical protein LOC222826 330 ovary(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TGGCTGTCTCACTTTTGGTGT 0.393 RIOK1 83732 broad.mit.edu 37 6 7393491 7393491 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:7393491A>G uc003mxn.2 + 2 405 c.231A>G c.(229-231)GGA>GGG p.G77G RIOK1_uc003mxm.1_5'UTR NM_031480 NP_113668 Q9BRS2 RIOK1_HUMAN RIO kinase 1 isoform 1 77 ATP binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|skin(1) 4 Ovarian(93;0.0418) AAGGAGTTGGAAAACTCGCCA 0.289 DSP 1832 broad.mit.edu 37 6 7583718 7583718 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:7583718C>T uc003mxp.1 + 24 6502 c.6223C>T c.(6223-6225)CGG>TGG p.R2075W DSP_uc003mxq.1_Missense_Mutation_p.R1476W NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2075 Plectin 2.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCCATAGCTCGGGACCTCAT 0.483 DSP 1832 broad.mit.edu 37 6 7585144 7585144 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:7585144G>T uc003mxp.1 + 24 7928 c.7649G>T c.(7648-7650)GGC>GTC p.G2550V DSP_uc003mxq.1_Missense_Mutation_p.G1951V NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2550 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TACCGATCCGGCAGCCTCAGC 0.483 MAK 4117 broad.mit.edu 37 6 10764752 10764752 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:10764752C>T uc003mzl.2 - 13 2034 c.1805G>A c.(1804-1806)CGT>CAT p.R602H SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.R602H NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 602 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GGGCTGTGCACGGTTCACAAT 0.478 MAK 4117 broad.mit.edu 37 6 10796273 10796273 + Silent SNP C C T rs141174473 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:10796273C>T uc003mzl.2 - 8 1330 c.1101G>A c.(1099-1101)CCG>CCA p.P367P SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.P367P|MAK_uc010jov.1_RNA NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 367 Glu/Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) GCGTTTGTGGCGGTTTCTCCT 0.498 ERVFRDE1 405754 broad.mit.edu 37 6 11105044 11105044 + Missense_Mutation SNP C C T rs140934168 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:11105044C>T uc003mzt.2 - 2 870 c.500G>A c.(499-501)CGC>CAC p.R167H LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron NM_207582 NP_997465 P60508 EFRD1_HUMAN syncytin 2 167 Extracellular (Potential). integral to membrane|plasma membrane|virion 0 TGGTTGATGGCGGAATTGGTT 0.443 CD83 9308 broad.mit.edu 37 6 14133942 14133942 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:14133942C>T uc003nbi.2 + 4 623 c.445C>T c.(445-447)CTG>TTG p.L149L CD83_uc003nbh.2_Silent_p.L149L NM_004233 NP_004224 Q01151 CD83_HUMAN CD83 antigen isoform a 149 Helical; (Potential). defense response|humoral immune response|signal transduction integral to plasma membrane 0 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) TGTCCTGCTGCTGGCTCTGGT 0.378 ATXN1 6310 broad.mit.edu 37 6 16328505 16328505 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:16328505G>A uc003nbt.2 - 8 1008 c.37C>T c.(37-39)CCT>TCT p.P13S ATXN1_uc010jpi.2_Missense_Mutation_p.P13S|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 13 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TTCTTGGGAGGCAGGCATTCG 0.602 ZNF165 7718 broad.mit.edu 37 6 28056560 28056560 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:28056560A>G uc003nkg.2 + 5 1854 c.770A>G c.(769-771)AAA>AGA p.K257R ZNF165_uc003nkh.2_Missense_Mutation_p.K257R|ZNF165_uc003nki.3_Missense_Mutation_p.K257R|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 257 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GGTTTTGGTAAAATCCTCACC 0.428 TRIM26 7726 broad.mit.edu 37 6 30166872 30166872 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:30166872C>A uc003npr.2 - 3 218 c.9G>T c.(7-9)ACG>ACT p.T3T TRIM26_uc003nps.2_Silent_p.T3T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.T3T|TRIM26_uc003npu.1_Silent_p.T3T NM_003449 NP_003440 Q12899 TRI26_HUMAN tripartite motif-containing 26 3 DNA binding|zinc ion binding ovary(2)|lung(1) 3 GTGGGGCTGACGTGGCCATGG 0.557 PPP1R10 5514 broad.mit.edu 37 6 30570240 30570240 + Missense_Mutation SNP C C T rs142321584 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:30570240C>T uc003nqn.1 - 19 2738 c.2186G>A c.(2185-2187)CGC>CAC p.R729H PPP1R10_uc010jsc.1_Missense_Mutation_p.R383H NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 729 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 TCCTCCAGAGCGACCTCCTCT 0.597 HSPA1L 3305 broad.mit.edu 37 6 31779132 31779132 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:31779132T>C uc003nxh.2 - 2 801 c.618A>G c.(616-618)ACA>ACG p.T206T HSPA1L_uc010jte.2_Silent_p.T206T NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 206 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 ACACATCAAATGTGCCTCCAC 0.488 CYP21A2 1589 broad.mit.edu 37 6 31975180 31975180 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:31975180C>T uc010jtp.2 + 8 991 c.873C>T c.(871-873)ATC>ATT p.I291I CYP21A2_uc011dpb.1_Silent_p.I261I P08686 CP21A_HUMAN SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA; 290 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 ACCTCCTGATCGGTGGCACTG 0.597 CYP21A2 1589 broad.mit.edu 37 6 32007916 32007916 + Silent SNP C C T rs143877763 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:32007916C>T uc003nze.1 + 7 991 c.873C>T c.(871-873)ATC>ATT p.I291I CYP21A2_uc003nzf.1_Silent_p.I261I NM_000500 NP_000491 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, 290 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 ACCTCCTGATCGGTGGCACTG 0.607 PBX2 5089 broad.mit.edu 37 6 32155040 32155040 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:32155040G>T uc003oav.1 - 6 1274 c.1003C>A c.(1003-1005)CCG>ACG p.P335T PBX2_uc003oaw.2_Missense_Mutation_p.P335T NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 335 transcription factor binding ovary(1) 1 GGGGGTGTCGGGGAGCTGGTG 0.552 BTNL2 56244 broad.mit.edu 37 6 32364033 32364033 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:32364033A>G uc003obg.1 - 5 861 c.861T>C c.(859-861)CGT>CGC p.R287R BTNL2_uc010jty.1_Silent_p.R10R|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.R77R NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 287 Extracellular (Potential).|Ig-like V-type 3. integral to membrane central_nervous_system(1) 1 CAGCAGGGTAACGGTGGGATC 0.557 GRM4 2914 broad.mit.edu 37 6 34003601 34003601 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:34003601C>T uc003oir.3 - 8 2456 c.2286G>A c.(2284-2286)CTG>CTA p.L762L GRM4_uc011dsn.1_Silent_p.L715L|GRM4_uc010jvh.2_Silent_p.L762L|GRM4_uc010jvi.2_Silent_p.L454L|GRM4_uc003oio.2_Silent_p.L454L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L622L|GRM4_uc003oiq.2_Silent_p.L629L|GRM4_uc011dsm.1_Silent_p.L593L NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 762 Helical; Name=5; (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) TGACCATGAGCAGCATGCTGT 0.602 ETV7 51513 broad.mit.edu 37 6 36339255 36339255 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:36339255G>A uc003omb.2 - 5 665 c.516C>T c.(514-516)GGC>GGT p.G172G ETV7_uc003olz.1_Silent_p.G172G|ETV7_uc003oma.1_Silent_p.G117G|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Silent_p.G117G|ETV7_uc010jwj.2_Silent_p.G113G|ETV7_uc010jwh.2_Silent_p.G91G|ETV7_uc010jwi.2_Intron|ETV7_uc011dtl.1_Silent_p.G21G NM_016135 NP_057219 Q9Y603 ETV7_HUMAN ets variant 7 172 organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 CATCCAGGTGGCCGAAGTTGC 0.632 DNAH8 1769 broad.mit.edu 37 6 38800181 38800181 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:38800181C>T uc003ooe.1 + 29 4221 c.3621C>T c.(3619-3621)GAC>GAT p.D1207D 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 TTCGTGAGGACGTGATAAACT 0.333 KIF6 221458 broad.mit.edu 37 6 39688506 39688506 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:39688506T>C uc003oot.2 - 2 243 c.148A>G c.(148-150)AAT>GAT p.N50D KIF6_uc011dua.1_Missense_Mutation_p.N50D|KIF6_uc010jxb.1_Missense_Mutation_p.N50D NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN kinesin family member 6 50 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1) 3 CGCTTATTATTCACAAACCCA 0.308 MOCS1 4337 broad.mit.edu 37 6 39877589 39877589 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:39877589C>T uc003opb.2 - 8 1230 c.1092G>A c.(1090-1092)CGG>CGA p.R364R MOCS1_uc003opa.2_Silent_p.R364R|MOCS1_uc003opc.2_Silent_p.R364R|MOCS1_uc003opd.2_Silent_p.R364R|MOCS1_uc003ope.2_Silent_p.R277R NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 364 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGCATGCTGCCGCTTCTTCC 0.617 MED20 9477 broad.mit.edu 37 6 41884548 41884548 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:41884548C>T uc003ork.2 - 2 265 c.144G>A c.(142-144)ACG>ACA p.T48T MED20_uc003orj.2_5'UTR|MED20_uc011duh.1_Silent_p.T48T|MED20_uc011dui.1_RNA|MED20_uc011duj.1_Intron NM_004275 NP_004266 Q9H944 MED20_HUMAN Trf (TATA binding protein-related 48 regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter mediator complex DNA-directed RNA polymerase activity|protein binding 0 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TAGAGGCGGCCGTATGGTAAG 0.493 CUL7 9820 broad.mit.edu 37 6 43018788 43018788 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:43018788C>T uc003otq.2 - 4 1454 c.1151G>A c.(1150-1152)CGG>CAG p.R384Q CUL7_uc011dvb.1_Missense_Mutation_p.R468Q|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 384 Interaction with TP53. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ATCCAGCATCCGCACTCGCAT 0.567 TTBK1 84630 broad.mit.edu 37 6 43250532 43250532 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:43250532A>G uc003ouq.1 + 14 2333 c.2054A>G c.(2053-2055)TAC>TGC p.Y685C NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 685 Potential. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AGTCTGCCCTACCAGGACTTC 0.617 ZNF318 24149 broad.mit.edu 37 6 43305046 43305046 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:43305046G>A uc003oux.2 - 10 6768 c.6690C>T c.(6688-6690)GGC>GGT p.G2230G ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2230 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TCAGAGGGTCGCCACTGTCAT 0.478 AARS2 57505 broad.mit.edu 37 6 44271116 44271116 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:44271116C>A uc010jza.1 - 15 2055 c.2052G>T c.(2050-2052)GTG>GTT p.V684V SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 684 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) CGGCCTCCTGCACAGTGTTCT 0.627 CDC5L 988 broad.mit.edu 37 6 44376246 44376246 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:44376246T>C uc003oxl.2 + 8 1228 c.969T>C c.(967-969)ACT>ACC p.T323T NM_001253 NP_001244 Q99459 CDC5L_HUMAN CDC5-like 323 Interaction with PPP1R8. 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) CACGTCAAACTGCCGAGGAAT 0.418 PLA2G7 7941 broad.mit.edu 37 6 46677119 46677119 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:46677119G>A uc010jzf.2 - 9 1083 c.814C>T c.(814-816)CAT>TAT p.H272Y PLA2G7_uc010jzg.1_Missense_Mutation_p.H272Y NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 272 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) CCAAAAGAATGTCCAATTACT 0.313 TFAP2D 83741 broad.mit.edu 37 6 50683193 50683193 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:50683193G>C uc003paf.2 + 2 916 c.404G>C c.(403-405)GGC>GCC p.G135A TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 135 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CGGGAGCTGGGCTGCCTCGAT 0.622 PKHD1 5314 broad.mit.edu 37 6 51613339 51613339 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:51613339G>A uc003pah.1 - 58 9351 c.9075C>T c.(9073-9075)GGC>GGT p.G3025G PKHD1_uc010jzn.1_Silent_p.G1008G|PKHD1_uc003pai.2_Silent_p.G3025G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3025 Extracellular (Potential).|PbH1 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAATGCCCCCGCCACAGCTCT 0.458 MYO6 4646 broad.mit.edu 37 6 76564979 76564979 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:76564979G>A uc003pih.1 + 12 1481 c.1202G>A c.(1201-1203)GGC>GAC p.G401D MYO6_uc003pig.1_Missense_Mutation_p.G401D|MYO6_uc003pii.1_Missense_Mutation_p.G401D NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 401 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) ACAGCAGGGGGCACCAAAGGA 0.383 MYO6 4646 broad.mit.edu 37 6 76623846 76623846 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:76623846G>A uc003pih.1 + 34 3785 c.3506G>A c.(3505-3507)CGC>CAC p.R1169H MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 1178 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) CGACAGCAACGCTTCTTCCGC 0.498 IBTK 25998 broad.mit.edu 37 6 82911177 82911177 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:82911177C>T uc003pjl.1 - 19 3279 c.2752G>A c.(2752-2754)GGT>AGT p.G918S IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.G918S|IBTK_uc011dyw.1_Missense_Mutation_p.G717S|IBTK_uc010kbi.1_Missense_Mutation_p.G612S|IBTK_uc003pjm.2_Missense_Mutation_p.G918S NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 918 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TTCAAAACACCATCGCTTAAA 0.318 ZNF292 23036 broad.mit.edu 37 6 87964573 87964573 + Nonsense_Mutation SNP T T A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:87964573T>A uc003plm.3 + 8 1267 c.1226T>A c.(1225-1227)TTG>TAG p.L409* NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) GTGGAAATGTTGTATAATCAG 0.378 MDN1 23195 broad.mit.edu 37 6 90366466 90366466 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:90366466A>C uc003pnn.1 - 91 15354 c.15238T>G c.(15238-15240)TTC>GTC p.F5080V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5080 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGGGCAATGAAATTCGATTCA 0.458 MANEA 79694 broad.mit.edu 37 6 96034484 96034484 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:96034484A>G uc003poo.1 + 2 309 c.169A>G c.(169-171)AAA>GAA p.K57E MANEA_uc003pon.2_Missense_Mutation_p.K57E NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 57 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TCATTTGGGGAAAAATTTTGA 0.358 KLHL32 114792 broad.mit.edu 37 6 97562303 97562303 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:97562303C>A uc010kcm.1 + 7 1744 c.1272C>A c.(1270-1272)AAC>AAA p.N424K KLHL32_uc003poy.2_Missense_Mutation_p.N424K|KLHL32_uc011ead.1_Missense_Mutation_p.N388K|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.N355K|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 424 Kelch 3. ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) CCAAGAAGAACAAATGGACTT 0.473 ASCC3 10973 broad.mit.edu 37 6 101086686 101086686 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:101086686G>C uc003pqk.2 - 25 4242 c.3913C>G c.(3913-3915)CTT>GTT p.L1305V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1305 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AAAGGCTGAAGATCCAGTAAT 0.348 PRDM1 639 broad.mit.edu 37 6 106555298 106555298 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:106555298C>T uc003prd.2 + 7 2649 c.2415C>T c.(2413-2415)AGC>AGT p.S805S PRDM1_uc003pre.2_Silent_p.S671S NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 805 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TGCCTCCCAGCAACCCACTAC 0.418 D|N|Mis|F|S DLBCL BEND3 57673 broad.mit.edu 37 6 107390934 107390934 + Silent SNP C C T rs143332621 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:107390934C>T uc003prs.2 - 5 2111 c.1461G>A c.(1459-1461)GCG>GCA p.A487A NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 487 BEN 2. ovary(3) 3 CTTCACTGCCCGCGTCCAGCC 0.647 SOBP 55084 broad.mit.edu 37 6 107955346 107955346 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:107955346G>A uc003prx.2 + 6 1802 c.1298G>A c.(1297-1299)GGC>GAC p.G433D NM_018013 NP_060483 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog 433 Pro-rich. metal ion binding ovary(1) 1 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) ATGCTTCCCGGCATCGGGCCC 0.706 FYN 2534 broad.mit.edu 37 6 111995713 111995713 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:111995713A>G uc003pvj.2 - 12 1734 c.1394T>C c.(1393-1395)GTG>GCG p.V465A FYN_uc003pvi.2_Missense_Mutation_p.V410A|FYN_uc003pvk.2_Missense_Mutation_p.V465A|FYN_uc003pvh.2_Missense_Mutation_p.V462A NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 465 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TGGGTATGGCACTCTTCCTTT 0.517 GOPC 57120 broad.mit.edu 37 6 117884447 117884447 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:117884447C>T uc003pxu.2 - 9 1589 c.1359G>A c.(1357-1359)CTG>CTA p.L453L GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxs.2_Intron|GOPC_uc003pxv.2_Silent_p.L445L NM_020399 NP_065132 Q9HD26 GOPC_HUMAN golgi associated PDZ and coiled-coil motif 453 apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle cystic fibrosis transmembrane conductance regulator binding ovary(1) 1 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) ACAGAGTGTGCAGATCATCTA 0.393 O ROS1 glioblastoma GJA1 2697 broad.mit.edu 37 6 121768598 121768598 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:121768598G>A uc003pyr.2 + 2 855 c.605G>A c.(604-606)CGC>CAC p.R202H GJA1_uc011ebo.1_Missense_Mutation_p.R103H|GJA1_uc011ebp.1_5'UTR NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 202 Extracellular (Potential). R -> H (in ODDD). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TTCCTCTCTCGCCCCACGGAG 0.473 NKAIN2 154215 broad.mit.edu 37 6 124979412 124979412 + Silent SNP G G A rs142736368 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:124979412G>A uc003pzo.2 + 4 631 c.354G>A c.(352-354)ACG>ACA p.T118T NKAIN2_uc003pzn.1_Silent_p.T118T|NKAIN2_uc003pzp.2_Silent_p.T117T|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.T28T NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 118 integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) GTACGGTGACGTCAGTGACAC 0.488 TCF21 6943 broad.mit.edu 37 6 134210757 134210757 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:134210757G>T uc003qei.3 + 1 498 c.222G>T c.(220-222)CAG>CAT p.Q74H uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Q74H NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 74 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) GGGTCAGCCAGGAGGGGAAGC 0.687 SLC35D3 340146 broad.mit.edu 37 6 137245685 137245685 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:137245685C>T uc003qhe.2 + 2 1267 c.1102C>T c.(1102-1104)CGA>TGA p.R368* NM_001008783 NP_001008783 Q5M8T2 S35D3_HUMAN solute carrier family 35, member D3 368 carbohydrate transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365) GGGCAGCCCCCGAGGAGTCCC 0.637 NMBR 4829 broad.mit.edu 37 6 142409452 142409452 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:142409452C>T uc003qiu.2 - 1 485 c.344G>A c.(343-345)GGC>GAC p.G115D NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 115 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) CAGTTTGCAGCCCACCTTGCC 0.602 GRM1 2911 broad.mit.edu 37 6 146755425 146755425 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:146755425G>T uc010khw.1 + 9 3548 c.3078G>T c.(3076-3078)CAG>CAT p.Q1026H GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1026 Gln/Pro-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCCTCCACAGCAGAAATCGC 0.662 LATS1 9113 broad.mit.edu 37 6 150016224 150016224 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:150016224G>A uc003qmu.1 - 3 1030 c.482C>T c.(481-483)GCC>GTC p.A161V LATS1_uc010kif.1_Missense_Mutation_p.A56V|LATS1_uc003qmv.1_Missense_Mutation_p.A161V|LATS1_uc003qmw.2_Missense_Mutation_p.A161V|LATS1_uc010kig.1_Missense_Mutation_p.A56V NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 161 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTTCATGCTGGCATTAATAGG 0.358 MTHFD1L 25902 broad.mit.edu 37 6 151336756 151336756 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:151336756C>A uc003qob.2 + 24 2781 c.2513C>A c.(2512-2514)TCG>TAG p.S838* MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.S839*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.S786* NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 838 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) GGAAAAGGATCGGTGGACTTG 0.522 IGF2R 3482 broad.mit.edu 37 6 160501183 160501183 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:160501183T>C uc003qta.2 + 39 5857 c.5709T>C c.(5707-5709)TGT>TGC p.C1903C NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1903 13.|Lumenal (Potential).|Fibronectin type-II. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GCGTCCCCTGTGTCTTCCCCT 0.537 MAP3K4 4216 broad.mit.edu 37 6 161470592 161470592 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:161470592C>A uc003qtn.2 + 3 1430 c.1288C>A c.(1288-1290)CCT>ACT p.P430T MAP3K4_uc010kkc.1_Missense_Mutation_p.P430T|MAP3K4_uc003qto.2_Missense_Mutation_p.P430T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 430 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GTTTGAAATCCCTTCCCCTCG 0.418 MAP3K4 4216 broad.mit.edu 37 6 161514015 161514015 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:161514015C>T uc003qtn.2 + 14 3417 c.3275C>T c.(3274-3276)GCG>GTG p.A1092V MAP3K4_uc010kkc.1_Missense_Mutation_p.A1092V|MAP3K4_uc003qto.2_Missense_Mutation_p.A1092V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A545V|MAP3K4_uc003qtp.2_Missense_Mutation_p.A82V NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1092 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding ovary(3)|lung(3)|skin(2)|stomach(1) 9 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACCAGGTGGGCGACTCAAGGA 0.338 PDE10A 10846 broad.mit.edu 37 6 165846548 165846548 + Missense_Mutation SNP T T A rs139733232 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:165846548T>A uc003qun.2 - 8 818 c.577A>T c.(577-579)ATT>TTT p.I193F PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I123F|PDE10A_uc003quo.2_Missense_Mutation_p.I203F NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 193 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GCAGTGACAATTGGTAAGCAA 0.428 WDR27 253769 broad.mit.edu 37 6 170059238 170059238 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:170059238C>T uc003qwx.2 - 12 1783 c.1263G>A c.(1261-1263)GCG>GCA p.A421A WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Silent_p.A421A|WDR27_uc003qwy.2_Silent_p.A294A|WDR27_uc003qwz.1_Silent_p.A154A A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 391 pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CCCTGACTAGCGCGGCCGGGT 0.597 MIOS 54468 broad.mit.edu 37 7 7612108 7612108 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:7612108T>C uc003srf.2 + 4 310 c.2T>C c.(1-3)ATG>ACG p.M1T MIOS_uc010ktp.1_Missense_Mutation_p.M1T NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 1 0 TCAGTAAACATGAGCGGTACC 0.348 NXPH1 30010 broad.mit.edu 37 7 8475382 8475382 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:8475382G>A uc003srv.2 + 2 950 c.39G>A c.(37-39)CAG>CAA p.Q13Q NXPH1_uc011jxh.1_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 13 extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TCCTCCTGCAGCCCACCGTCT 0.557 THSD7A 221981 broad.mit.edu 37 7 11485856 11485856 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:11485856C>T uc003ssf.3 - 13 3148 c.2896G>A c.(2896-2898)GTG>ATG p.V966M NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 966 TSP type-1 10.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CAGTTCCCCACAGGTTGTGCA 0.403 HNSCC(18;0.044) MEOX2 4223 broad.mit.edu 37 7 15725591 15725591 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:15725591G>A uc003stc.2 - 1 718 c.437C>T c.(436-438)CCG>CTG p.P146L MEOX2_uc011jxw.1_Missense_Mutation_p.P146L NM_005924 NP_005915 P50222 MEOX2_HUMAN mesenchyme homeobox 2 146 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) GTAGTCCCCCGGCGCGCACGC 0.706 HOXA4 3201 broad.mit.edu 37 7 27170241 27170241 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:27170241C>T uc003sym.3 - 1 159 c.112G>A c.(112-114)GGG>AGG p.G38R NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 38 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 ccggggcccccgcccgggccg 0.597 HOXA9 3205 broad.mit.edu 37 7 27204787 27204787 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:27204787G>A uc003syt.2 - 1 363 c.290C>T c.(289-291)CCC>CTC p.P97L NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 97 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 CGCCGCCACGGGCGCCTGGGG 0.736 T NUP98|MSI2 AML* TAX1BP1 8887 broad.mit.edu 37 7 27839705 27839705 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:27839705A>T uc003szl.2 + 13 1918 c.1760A>T c.(1759-1761)TAT>TTT p.Y587F TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y587F|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y587F|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y430F NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 587 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) CAGGACAATTATAAAGTAAGT 0.279 CREB5 9586 broad.mit.edu 37 7 28763860 28763860 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:28763860A>G uc003szq.2 + 7 1003 c.613A>G c.(613-615)AAC>GAC p.N205D CREB5_uc003szo.2_Missense_Mutation_p.N172D|CREB5_uc003szr.2_Missense_Mutation_p.N198D|CREB5_uc003szs.2_Missense_Mutation_p.N66D|CREB5_uc011jzr.1_Missense_Mutation_p.N54D NM_182898 NP_878901 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 205 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 AATGTCAGTGAACTCCAGCAT 0.458 NOD1 10392 broad.mit.edu 37 7 30494838 30494838 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:30494838G>A uc003tav.2 - 5 814 c.291C>T c.(289-291)TAC>TAT p.Y97Y NOD1_uc010kvs.2_Silent_p.Y97Y NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 97 CARD. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGAGGTCCACGTAGGCATCTG 0.587 TBX20 57057 broad.mit.edu 37 7 35244126 35244126 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:35244126T>C uc011kas.1 - 7 970 c.959A>G c.(958-960)GAA>GGA p.E320G NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 320 nucleus DNA binding central_nervous_system(1) 1 GACATCTTCTTCTCCTCCGTA 0.488 HERPUD2 64224 broad.mit.edu 37 7 35674970 35674970 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:35674970G>A uc003tet.2 - 6 1521 c.716C>T c.(715-717)CCC>CTC p.P239L HERPUD2_uc003tes.3_Missense_Mutation_p.P239L NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 239 response to unfolded protein integral to membrane ovary(3) 3 AGCTGGTGGGGGTTCTTCTCC 0.473 EPDR1 54749 broad.mit.edu 37 7 37988614 37988614 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:37988614G>A uc003tfp.2 + 2 821 c.802G>A c.(802-804)GTC>ATC p.V268I EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.V87I NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 148 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 GCAGATCACCGTCCAGGAGTG 0.493 GLI3 2737 broad.mit.edu 37 7 42005509 42005509 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:42005509G>A uc011kbh.1 - 15 3253 c.3162C>T c.(3160-3162)GGC>GGT p.G1054G GLI3_uc011kbg.1_Silent_p.G995G NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1054 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGGACTGGCCGCCCTCGGGCC 0.652 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome HECW1 23072 broad.mit.edu 37 7 43477737 43477737 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:43477737G>A uc003tid.1 + 9 1542 c.937G>A c.(937-939)GCC>ACC p.A313T HECW1_uc011kbi.1_Missense_Mutation_p.A313T|HECW1_uc003tie.1_Missense_Mutation_p.A345T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 313 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 GGAGAGACACGCCATAGGGTA 0.512 PKD1L1 168507 broad.mit.edu 37 7 47851635 47851635 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:47851635G>A uc003tny.1 - 50 7361 c.7361C>T c.(7360-7362)ACA>ATA p.T2454I C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T181I NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2454 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GGACAGGGCTGTGTGGGCTTC 0.582 POM121L12 285877 broad.mit.edu 37 7 53103493 53103493 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:53103493G>A uc003tpz.2 + 1 145 c.129G>A c.(127-129)ACG>ACA p.T43T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 43 0 CCCAGACCACGCCATCTCCCC 0.682 EGFR 1956 broad.mit.edu 37 7 55224270 55224270 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:55224270A>G uc003tqk.2 + 9 1297 c.1051A>G c.(1051-1053)ATA>GTA p.I351V EGFR_uc003tqh.2_Missense_Mutation_p.I351V|EGFR_uc003tqi.2_Missense_Mutation_p.I351V|EGFR_uc003tqj.2_Missense_Mutation_p.I351V|EGFR_uc010kzg.1_Missense_Mutation_p.I306V|EGFR_uc011kco.1_Missense_Mutation_p.I298V|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 351 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTCACTCTCCATAAATGCTAC 0.428 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) GUSB 2990 broad.mit.edu 37 7 65432725 65432725 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:65432725A>G uc003tun.2 - 10 1722 c.1646T>C c.(1645-1647)TTT>TCT p.F549S GUSB_uc011kdt.1_Missense_Mutation_p.F403S NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 549 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 TACCTGGTGAAACCCTGCAAT 0.517 AUTS2 26053 broad.mit.edu 37 7 69364323 69364323 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:69364323C>A uc003tvw.3 + 2 1104 c.361C>A c.(361-363)CTG>ATG p.L121M AUTS2_uc003tvv.3_Missense_Mutation_p.L121M|AUTS2_uc003tvx.3_Missense_Mutation_p.L121M NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 121 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) CCAGACGCCCCTGACCAAGAA 0.468 AUTS2 26053 broad.mit.edu 37 7 69583138 69583138 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:69583138C>A uc003tvw.3 + 3 1286 c.543C>A c.(541-543)AGC>AGA p.S181R AUTS2_uc003tvv.3_Missense_Mutation_p.S181R|AUTS2_uc003tvx.3_Missense_Mutation_p.S181R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 181 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) GACAGAACAGCTGCAGGGACA 0.443 AUTS2 26053 broad.mit.edu 37 7 70255474 70255474 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:70255474G>C uc003tvw.3 + 19 4015 c.3272G>C c.(3271-3273)GGC>GCC p.G1091A AUTS2_uc003tvx.3_Missense_Mutation_p.G1067A|AUTS2_uc011keg.1_Missense_Mutation_p.G543A NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1091 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) GACCCGCTGGGCAGGGACTTC 0.637 WBSCR28 135886 broad.mit.edu 37 7 73279655 73279655 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:73279655G>A uc003tzk.2 + 2 441 c.405G>A c.(403-405)CTG>CTA p.L135L RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Silent_p.L34L NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 135 Helical; (Potential). integral to membrane breast(1) 1 Lung NSC(55;0.159) TGTCATGTCTGCACGGCCTGA 0.607 LAT2 7462 broad.mit.edu 37 7 73635972 73635972 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:73635972C>A uc003uag.2 + 10 888 c.338C>A c.(337-339)CCC>CAC p.P113H RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.P113H|LAT2_uc003uai.2_Missense_Mutation_p.P113H|LAT2_uc010lbo.2_Intron NM_032464 NP_115853 Q9GZY6 NTAL_HUMAN linker for activation of T cells family member 113 Cytoplasmic (Potential). B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding 0 GCCAGAGACCCCATTGCCATG 0.597 SEMA3C 10512 broad.mit.edu 37 7 80387683 80387683 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:80387683C>T uc003uhj.2 - 15 2169 c.1607G>A c.(1606-1608)GGC>GAC p.G536D SEMA3C_uc011kgw.1_Missense_Mutation_p.G554D NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 536 immune response|response to drug membrane receptor activity ovary(1) 1 ACAGGAATGGCCATCCCAGGC 0.527 SEMA3A 10371 broad.mit.edu 37 7 83591011 83591011 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:83591011G>T uc003uhz.2 - 17 2307 c.1992C>A c.(1990-1992)ACC>ACA p.T664T NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 664 Ig-like C2-type. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 TGACTTCCAGGGTTACCTTAA 0.428 ABCB4 5244 broad.mit.edu 37 7 87035769 87035769 + Nonsense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:87035769C>T uc003uiv.1 - 26 3418 c.3342G>A c.(3340-3342)TGG>TGA p.W1114* ABCB4_uc003uiw.1_Nonsense_Mutation_p.W1107*|ABCB4_uc003uix.1_Nonsense_Mutation_p.W1060* NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1114 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) GAGCTCTGAGCCACTGGACAT 0.418 ZNF804B 219578 broad.mit.edu 37 7 88847469 88847469 + Missense_Mutation SNP G G C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:88847469G>C uc011khi.1 + 2 647 c.109G>C c.(109-111)GAT>CAT p.D37H NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 37 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) TTTCTTAAAGGATTTTGCAGA 0.348 HNSCC(36;0.09) FZD1 8321 broad.mit.edu 37 7 90895674 90895674 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:90895674G>A uc003ula.2 + 1 1892 c.1479G>A c.(1477-1479)GCG>GCA p.A493A NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 493 Helical; Name=5; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TCGTGCTGGCGCCCCTCTTCG 0.617 PPP1R9A 55607 broad.mit.edu 37 7 94740588 94740588 + Silent SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:94740588C>A uc003unp.2 + 3 1695 c.1413C>A c.(1411-1413)TCC>TCA p.S471S PPP1R9A_uc010lfj.2_Silent_p.S471S|PPP1R9A_uc011kif.1_Silent_p.S471S|PPP1R9A_uc003unq.2_Silent_p.S471S|PPP1R9A_uc011kig.1_Silent_p.S471S NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 471 Interacts with protein phosphatase 1 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) ACACATACTCCAATGAAGACT 0.378 HNSCC(28;0.073) OR2AE1 81392 broad.mit.edu 37 7 99474544 99474544 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:99474544G>A uc003usc.1 - 1 113 c.113C>T c.(112-114)GCG>GTG p.A38V NM_001005276 NP_001005276 Q8NHA4 O2AE1_HUMAN olfactory receptor, family 2, subfamily AE, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) GCCACTCACCGCAATAAGGAA 0.507 TRIM4 89122 broad.mit.edu 37 7 99490019 99490019 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:99490019C>T uc003usd.2 - 7 1400 c.1270G>A c.(1270-1272)GCT>ACT p.A424T TRIM4_uc003use.2_Missense_Mutation_p.A398T|TRIM4_uc011kjc.1_Missense_Mutation_p.A254T NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 424 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CAATAGCCAGCAGCACTCCAA 0.557 SRRT 51593 broad.mit.edu 37 7 100483916 100483916 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:100483916C>T uc003uwy.2 + 14 1775 c.1507C>T c.(1507-1509)CGC>TGC p.R503C SRRT_uc010lhl.1_Missense_Mutation_p.R502C|SRRT_uc003uxa.2_Missense_Mutation_p.R502C|SRRT_uc003uwz.2_Missense_Mutation_p.R503C NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 503 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 CCTGACCCGGCGCGTTCGCAA 0.602 TRIM56 81844 broad.mit.edu 37 7 100732461 100732461 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:100732461G>A uc003uxq.2 + 3 2099 c.1868G>A c.(1867-1869)CGG>CAG p.R623Q TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 623 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) CTGGCCACCCGGTTCATTCCT 0.687 PLOD3 8985 broad.mit.edu 37 7 100849621 100849621 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:100849621C>T uc003uyd.2 - 19 2614 c.2158G>A c.(2158-2160)GAG>AAG p.E720K PLOD3_uc010lhs.2_Missense_Mutation_p.E285K NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 720 Fe2OG dioxygenase. 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) GGCAGCCCCTCGTGGTAGTGG 0.642 ORAI2 80228 broad.mit.edu 37 7 102087428 102087428 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:102087428C>T uc010lhz.1 + 4 929 c.694C>T c.(694-696)CGC>TGC p.R232C ORAI2_uc003uzj.2_Missense_Mutation_p.R232C|ORAI2_uc003uzk.2_Missense_Mutation_p.R232C|ORAI2_uc011kks.1_Missense_Mutation_p.R155C NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 232 integral to membrane protein binding ovary(1)|kidney(1) 2 GCGCCACAACCGCGAGATCGA 0.652 SLC26A5 375611 broad.mit.edu 37 7 103014994 103014994 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:103014994G>T uc003vbz.2 - 20 2323 c.2087C>A c.(2086-2088)CCT>CAT p.P696H SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P664H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 696 Cytoplasmic (Potential).|STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 CCATAGGGCAGGATTTTCAAA 0.443 TSPAN12 23554 broad.mit.edu 37 7 120496814 120496814 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:120496814C>T uc003vjk.2 - 2 378 c.4G>A c.(4-6)GCC>ACC p.A2T NM_012338 NP_036470 O95859 TSN12_HUMAN transmembrane 4 superfamily member 12 2 Cytoplasmic (Potential). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction 0 all_neural(327;0.117) TCTTCTCTGGCCATTGTGAGC 0.567 OREG0018280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AASS 10157 broad.mit.edu 37 7 121716636 121716636 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:121716636C>A uc003vka.2 - 23 2784 c.2688G>T c.(2686-2688)ATG>ATT p.M896I AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.M896I|AASS_uc011knw.1_Missense_Mutation_p.M384I NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 896 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) AAAAGGGCCCCATTAGGCCTT 0.383 GCC1 79571 broad.mit.edu 37 7 127222690 127222690 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:127222690C>T uc003vma.2 - 2 2124 c.1706G>A c.(1705-1707)CGG>CAG p.R569Q NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 569 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 CAGCTGGCACCGCTCCAGCTC 0.637 FSCN3 29999 broad.mit.edu 37 7 127235972 127235972 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:127235972G>T uc003vmd.1 + 2 975 c.756G>T c.(754-756)AGG>AGT p.R252S FSCN3_uc003vmc.1_Missense_Mutation_p.R207S|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R118S|FSCN3_uc010llc.1_Missense_Mutation_p.R252S NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 252 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 ACCCCATGAGGGGTGAGGAGT 0.587 SLC13A4 26266 broad.mit.edu 37 7 135384171 135384171 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:135384171G>T uc003vta.2 - 8 1526 c.837C>A c.(835-837)GGC>GGA p.G279G SLC13A4_uc003vtb.2_Silent_p.G280G NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate 279 Helical; (Potential). integral to plasma membrane sodium:sulfate symporter activity 0 TGGTCAGGCCGCCAATGGTAG 0.453 ZC3HAV1L 92092 broad.mit.edu 37 7 138711299 138711299 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:138711299G>A uc003vum.1 - 5 906 c.894C>T c.(892-894)TGC>TGT p.C298C NM_080660 NP_542391 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 298 0 TTTACTTCTCGCAAGACACTG 0.378 OR2A1 346528 broad.mit.edu 37 7 144015504 144015504 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:144015504G>A uc011kud.1 + 1 269 c.269G>A c.(268-270)TGC>TAC p.C90Y OR2A9P_uc003wec.1_Intron NM_001001802 NP_001001802 Q8NGT9 OR2A1_HUMAN olfactory receptor, family 2, subfamily A, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.14) TTTGCTGGCTGCATGACGCAG 0.577 NOBOX 135935 broad.mit.edu 37 7 144098459 144098459 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:144098459C>T uc011kue.1 - 4 524 c.524G>A c.(523-525)CGC>CAC p.R175H NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 175 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) GGGCCTGGAGCGGGCTAGAGT 0.622 SSPO 23145 broad.mit.edu 37 7 149493767 149493767 + Missense_Mutation SNP G G A rs118118675 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:149493767G>A uc010lpk.2 + 46 6763 c.6763G>A c.(6763-6765)GGT>AGT p.G2255S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2255 LDL-receptor class A 8. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCTTGTGACGGTGTTCTGGA 0.647 GIMAP6 474344 broad.mit.edu 37 7 150325347 150325347 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:150325347G>A uc003whn.2 - 3 763 c.339C>T c.(337-339)TGC>TGT p.C113C GIMAP6_uc003whm.2_Silent_p.C33C NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 113 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGATGGCTTGGCAGATAGCGT 0.632 SLC4A2 6522 broad.mit.edu 37 7 150768521 150768521 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:150768521C>T uc003wit.3 + 14 2276 c.2020C>T c.(2020-2022)CCC>TCC p.P674S SLC4A2_uc011kve.1_Missense_Mutation_p.P665S|SLC4A2_uc003wiu.3_Missense_Mutation_p.P660S|SLC4A2_uc003wiv.3_5'Flank NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 674 Cytoplasmic (Potential). AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGAAGATGATCCCCTTCGGCG 0.672 GBX1 2636 broad.mit.edu 37 7 150864251 150864251 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:150864251C>T uc011kvg.1 - 1 617 c.385G>A c.(385-387)GCC>ACC p.A129T NM_001098834 NP_001092304 Q14549 GBX1_HUMAN gastrulation brain homeo box 1 129 Ala-rich.|Pro-rich. nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) gcagtggcggcggcggcggca 0.577 MLL3 58508 broad.mit.edu 37 7 151853315 151853315 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:151853315T>G uc003wla.2 - 45 12006 c.11787A>C c.(11785-11787)AAA>AAC p.K3929N MLL3_uc003wkz.2_Missense_Mutation_p.K3047N|MLL3_uc003wkx.2_Missense_Mutation_p.K87N|MLL3_uc003wky.2_Missense_Mutation_p.K1493N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 3929 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ACACTCCGGCTTTTCCAGCAA 0.473 N medulloblastoma MNX1 3110 broad.mit.edu 37 7 156798390 156798390 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:156798390T>C uc003wnd.1 - 3 1333 c.1030A>G c.(1030-1032)AGC>GGC p.S344G MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.S137G|MNX1_uc003wnc.1_Missense_Mutation_p.S132G|MNX1_uc010lqr.1_RNA NM_005515 NP_005506 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 isoform 1 344 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGCGTCCGCTGCCCTTGTCT 0.622 Currarino_syndrome CSMD1 64478 broad.mit.edu 37 8 3046481 3046481 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:3046481G>A uc011kwk.1 - 35 5844 c.5454C>T c.(5452-5454)GGC>GGT p.G1818G CSMD1_uc011kwj.1_Silent_p.G1210G|CSMD1_uc003wqe.2_Silent_p.G974G|CSMD1_uc010lrg.2_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1818 Extracellular (Potential).|CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTCAGGGTAGCCGGGGGACA 0.468 RP1L1 94137 broad.mit.edu 37 8 10467926 10467926 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:10467926T>C uc003wtc.2 - 4 3911 c.3682A>G c.(3682-3684)ACA>GCA p.T1228A NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1228 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GGCAGCTCTGTCCCCTGTGTC 0.577 RP1L1 94137 broad.mit.edu 37 8 10468442 10468442 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:10468442C>T uc003wtc.2 - 4 3395 c.3166G>A c.(3166-3168)GCA>ACA p.A1056T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1056 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCGGCCTCTGCAGGGGCCTCG 0.672 FAM160B2 64760 broad.mit.edu 37 8 21958382 21958382 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:21958382C>T uc011kyx.1 + 12 1566 c.1515C>T c.(1513-1515)ACC>ACT p.T505T FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 505 0 CCTACTTCACCGACAGCTTCC 0.567 LGI3 203190 broad.mit.edu 37 8 22012138 22012138 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:22012138G>A uc003xav.2 - 3 574 c.285C>T c.(283-285)CTC>CTT p.L95L LGI3_uc010ltu.2_Silent_p.L95L NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 95 LRR 1. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) TGTTGGAGTTGAGTAACCTGC 0.562 KIAA1967 57805 broad.mit.edu 37 8 22473261 22473261 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:22473261G>A uc003xch.2 + 13 1581 c.1444G>A c.(1444-1446)GCA>ACA p.A482T KIAA1967_uc003xci.2_Missense_Mutation_p.A482T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A151T NM_199205 NP_954675 Q8N163 K1967_HUMAN p30 DBC protein 482 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TAGACGGAACGCAGAAACTCC 0.587 TRIM35 23087 broad.mit.edu 37 8 27146721 27146721 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:27146721G>A uc003xfl.1 - 5 944 c.862C>T c.(862-864)CAG>TAG p.Q288* TRIM35_uc010lup.1_Missense_Mutation_p.A248V NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 288 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACGCGGTACTGCAGGGAGCCC 0.562 CHRNA2 1135 broad.mit.edu 37 8 27327344 27327344 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:27327344C>T uc010lur.2 - 3 837 c.228G>A c.(226-228)CCG>CCA p.P76P CHRNA2_uc011lal.1_Silent_p.P76P|CHRNA2_uc010lus.2_5'UTR NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 76 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) TGTTGGGCACCGGGCGCGCCC 0.637 TEX15 56154 broad.mit.edu 37 8 30695230 30695230 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:30695230C>A uc003xil.2 - 3 7421 c.7421G>T c.(7420-7422)GGG>GTG p.G2474V NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 2474 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CAAAAGCGTCCCATGGTCTGG 0.393 WRN 7486 broad.mit.edu 37 8 30945390 30945390 + Missense_Mutation SNP A A T rs149565907 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:30945390A>T uc003xio.3 + 12 2318 c.1530A>T c.(1528-1530)GAA>GAT p.E510D WRN_uc011lbe.1_Missense_Mutation_p.E38D|WRN_uc010lvk.2_Translation_Start_Site NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 510 Poly-Glu. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) aagaagaagaagatgatgaaa 0.279 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome RAB11FIP1 80223 broad.mit.edu 37 8 37730383 37730383 + Missense_Mutation SNP T T G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:37730383T>G uc003xkm.1 - 4 1981 c.1937A>C c.(1936-1938)AAT>ACT p.N646T RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 646 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGAACCAGAATTTGGAACCGG 0.522 MYST3 7994 broad.mit.edu 37 8 41836271 41836271 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:41836271C>T uc010lxb.2 - 7 1476 c.932G>A c.(931-933)CGA>CAA p.R311Q MYST3_uc010lxc.2_Missense_Mutation_p.R311Q|MYST3_uc003xon.3_Missense_Mutation_p.R311Q|MYST3_uc010lxd.2_Missense_Mutation_p.R311Q NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 311 PHD-type 2. histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TTTCCTAGGTCGACATATTTG 0.348 PRKDC 5591 broad.mit.edu 37 8 48701529 48701529 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:48701529A>G uc003xqi.2 - 77 10897 c.10840T>C c.(10840-10842)TAT>CAT p.Y3614H PRKDC_uc003xqj.2_Missense_Mutation_p.Y3614H|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3614 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AAGGCTGCATACATTCTTTCA 0.418 NHEJ GGH 8836 broad.mit.edu 37 8 63939790 63939790 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:63939790G>A uc003xuw.2 - 4 593 c.310C>T c.(310-312)CGC>TGC p.R104C NM_003878 NP_003869 Q92820 GGH_HUMAN gamma-glutamyl hydrolase precursor 104 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity 0 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) TAATCTGAGCGTCTGAGGTCA 0.378 C8orf46 254778 broad.mit.edu 37 8 67405953 67405953 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:67405953G>A uc003xwg.2 + 1 463 c.70G>A c.(70-72)GTA>ATA p.V24I C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.V24I NM_152765 NP_689978 Q8TAG6 CH046_HUMAN hypothetical protein LOC254778 24 skin(2) 2 Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226) TCCTTCCAAGGGTGAGTGAAA 0.498 PREX2 80243 broad.mit.edu 37 8 69069574 69069574 + Nonsense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:69069574G>T uc003xxv.1 + 35 4276 c.4249G>T c.(4249-4251)GGA>TGA p.G1417* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1417 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GAGCATGGAAGGATATTATTA 0.343 SLCO5A1 81796 broad.mit.edu 37 8 70744535 70744535 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:70744535G>A uc003xyl.2 - 2 1081 c.374C>T c.(373-375)ACG>ATG p.T125M SLCO5A1_uc010lzb.2_Missense_Mutation_p.T125M|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T125M|SLCO5A1_uc010lzc.2_Missense_Mutation_p.T125M NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 125 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ACGGGAATCCGTGAGGACCAC 0.557 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC7A13 157724 broad.mit.edu 37 8 87230057 87230057 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:87230057G>A uc003ydq.1 - 3 919 c.821C>T c.(820-822)GCT>GTT p.A274V SLC7A13_uc003ydr.1_Missense_Mutation_p.A265V NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 274 Extracellular (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 GATAGCTACAGCATCTGCAGA 0.303 DCAF4L2 138009 broad.mit.edu 37 8 88885021 88885021 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:88885021G>T uc003ydz.2 - 1 1276 c.1179C>A c.(1177-1179)TCC>TCA p.S393S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 393 ovary(1) 1 ATTAACCGTAGGAGAAACAAT 0.502 KIAA0196 9897 broad.mit.edu 37 8 126061300 126061300 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:126061300C>T uc003yrt.2 - 19 2656 c.2327G>A c.(2326-2328)CGT>CAT p.R776H KIAA0196_uc011lir.1_Missense_Mutation_p.R628H|KIAA0196_uc003yru.1_Missense_Mutation_p.R350H NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 776 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) ATTTATGATACGAGATACTTC 0.343 ASAP1 50807 broad.mit.edu 37 8 131140189 131140189 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:131140189G>A uc003yta.1 - 15 1393 c.1365C>T c.(1363-1365)TGC>TGT p.C455C ASAP1_uc003ysz.1_Silent_p.C266C|ASAP1_uc011liw.1_Silent_p.C448C NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 455 Arf-GAP.|C4-type. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AGCCACAATCGCAGCAAATGT 0.458 ASAP1 50807 broad.mit.edu 37 8 131172126 131172126 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:131172126G>A uc003yta.1 - 11 1022 c.994C>T c.(994-996)CTA>TTA p.L332L ASAP1_uc003ysz.1_Silent_p.L143L|ASAP1_uc011liw.1_Silent_p.L325L NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 332 PH. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 CTTTTCTTTAGCAGGTACCCC 0.448 TG 7038 broad.mit.edu 37 8 133906122 133906122 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:133906122G>A uc003ytw.2 + 11 2990 c.2949G>A c.(2947-2949)GCG>GCA p.A983A NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 983 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGGCTTTCGCGGAGCAGTTTC 0.602 ST3GAL1 6482 broad.mit.edu 37 8 134488254 134488254 + Missense_Mutation SNP C C T rs145602093 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:134488254C>T uc003yuk.2 - 5 843 c.14G>A c.(13-15)CGG>CAG p.R5Q ST3GAL1_uc003yum.2_Missense_Mutation_p.R5Q NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Cytoplasmic (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GGTCCTCTTCCGCAGGGTCAC 0.547 BAI1 575 broad.mit.edu 37 8 143614778 143614778 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:143614778C>T uc003ywm.2 + 24 3704 c.3521C>T c.(3520-3522)TCG>TTG p.S1174L NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1174 Helical; Name=7; (Potential). axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GTCTTCGACTCGCTGGAGGGC 0.672 ZNF623 9831 broad.mit.edu 37 8 144733545 144733545 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:144733545C>T uc003yzd.2 + 1 1592 c.1503C>T c.(1501-1503)AAC>AAT p.N501N ZNF623_uc011lkp.1_Silent_p.N461N|ZNF623_uc003yzc.2_Silent_p.N461N NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 501 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAACTACAAACGTTAAAAATA 0.408 PLEC 5339 broad.mit.edu 37 8 144991091 144991091 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:144991091G>A uc003zaf.1 - 32 13479 c.13309C>T c.(13309-13311)CGG>TGG p.R4437W PLEC_uc003zab.1_Missense_Mutation_p.R4300W|PLEC_uc003zac.1_Missense_Mutation_p.R4304W|PLEC_uc003zad.2_Missense_Mutation_p.R4300W|PLEC_uc003zae.1_Missense_Mutation_p.R4268W|PLEC_uc003zag.1_Missense_Mutation_p.R4278W|PLEC_uc003zah.2_Missense_Mutation_p.R4286W|PLEC_uc003zaj.2_Missense_Mutation_p.R4327W NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4437 Globular 2.|Plectin 29. 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 ACCAGGTTCCGGTGCATGGCC 0.677 PLEC 5339 broad.mit.edu 37 8 144991208 144991208 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:144991208C>T uc003zaf.1 - 32 13362 c.13192G>A c.(13192-13194)GCC>ACC p.A4398T PLEC_uc003zab.1_Missense_Mutation_p.A4261T|PLEC_uc003zac.1_Missense_Mutation_p.A4265T|PLEC_uc003zad.2_Missense_Mutation_p.A4261T|PLEC_uc003zae.1_Missense_Mutation_p.A4229T|PLEC_uc003zag.1_Missense_Mutation_p.A4239T|PLEC_uc003zah.2_Missense_Mutation_p.A4247T|PLEC_uc003zaj.2_Missense_Mutation_p.A4288T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4398 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 CTGGAGACGGCGGGGCTGATG 0.667 PLEC 5339 broad.mit.edu 37 8 144992277 144992277 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:144992277G>A uc003zaf.1 - 32 12293 c.12123C>T c.(12121-12123)GAC>GAT p.D4041D PLEC_uc003zab.1_Silent_p.D3904D|PLEC_uc003zac.1_Silent_p.D3908D|PLEC_uc003zad.2_Silent_p.D3904D|PLEC_uc003zae.1_Silent_p.D3872D|PLEC_uc003zag.1_Silent_p.D3882D|PLEC_uc003zah.2_Silent_p.D3890D|PLEC_uc003zaj.2_Silent_p.D3931D NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4041 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 CCGTGGCCTCGTCCATGACCT 0.652 KIFC2 90990 broad.mit.edu 37 8 145692675 145692675 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:145692675G>A uc003zcz.2 + 4 485 c.420G>A c.(418-420)CTG>CTA p.L140L CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 140 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GGCAGGCCCTGCTCCAGGGGA 0.622 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF16 7564 broad.mit.edu 37 8 146156815 146156815 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:146156815C>A uc003zet.2 - 4 1545 c.1358G>T c.(1357-1359)AGA>ATA p.R453I ZNF16_uc003zeu.2_Missense_Mutation_p.R453I NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 453 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) AGTGTGAATTCTCCGATGCTG 0.478 C8orf33 65265 broad.mit.edu 37 8 146278795 146278795 + Silent SNP C C T rs149041357 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:146278795C>T uc003zfc.3 + 4 570 c.516C>T c.(514-516)GCC>GCT p.A172A C8orf33_uc003zfd.2_RNA NM_023080 NP_075568 Q9H7E9 CH033_HUMAN hypothetical protein LOC65265 172 0 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) AGATGGAAGCCGAATGGCGTG 0.567 FOXD4 2298 broad.mit.edu 37 9 117579 117579 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:117579C>T uc003zfz.2 - 1 839 c.541G>A c.(541-543)GAC>AAC p.D181N NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 181 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GAGGCGGGGTCCAGGCTCCAG 0.662 DMRT3 58524 broad.mit.edu 37 9 990066 990066 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:990066C>T uc003zgw.1 + 2 518 c.480C>T c.(478-480)GAC>GAT p.D160D NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 160 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GACTTGGAGACGGCAAGTCGG 0.488 MPDZ 8777 broad.mit.edu 37 9 13190239 13190239 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:13190239C>T uc010mia.1 - 15 2085 c.2028G>A c.(2026-2028)GCG>GCA p.A676A MPDZ_uc010mhy.2_Silent_p.A676A|MPDZ_uc010mhz.2_Silent_p.A676A|MPDZ_uc011lmn.1_Silent_p.A676A|MPDZ_uc003zlb.3_Silent_p.A676A NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 676 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) CATCAGTCATCGCCAGCACTG 0.507 ADAMTSL1 92949 broad.mit.edu 37 9 18504847 18504847 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:18504847C>T uc003zne.3 + 2 211 c.84C>T c.(82-84)TCC>TCT p.S28S ADAMTSL1_uc003znb.2_Silent_p.S28S|ADAMTSL1_uc003znc.3_Silent_p.S28S NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 28 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CCGCACGCTCCGAGGAGGACC 0.582 SLC24A2 25769 broad.mit.edu 37 9 19622274 19622274 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:19622274A>C uc003zoa.1 - 2 1016 c.954T>G c.(952-954)GAT>GAG p.D318E SLC24A2_uc003zob.1_Missense_Mutation_p.D318E NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 318 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAGTTGGTTCATCCTTGTCCC 0.463 TAF1L 138474 broad.mit.edu 37 9 32630586 32630586 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:32630586C>T uc003zrg.1 - 1 5082 c.4992G>A c.(4990-4992)CAG>CAA p.Q1664Q uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1664 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TATCAGGAGGCTGAGATGTGT 0.453 APTX 54840 broad.mit.edu 37 9 32987827 32987827 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:32987827G>T uc003zrm.2 - 3 395 c.198C>A c.(196-198)ACC>ACA p.T66T APTX_uc010mjm.2_Intron|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_Intron|APTX_uc003zrl.2_Intron|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Silent_p.T66T|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Silent_p.T66T|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Silent_p.T80T|APTX_uc003zrw.2_Silent_p.T66T|APTX_uc003zrx.2_Silent_p.T66T|APTX_uc003zry.2_Silent_p.T66T|APTX_uc003zrz.2_Intron|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_Intron|APTX_uc003zsc.1_Intron NM_175072 NP_778242 Q7Z2E3 APTX_HUMAN aprataxin isoform c 80 Interactions with ADPRT and NCL.|FHA-like. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) AGTCAATGCTGGTGGGATTGA 0.408 Direct_reversal_of_damage|Editing_and_processing_nucleases NFX1 4799 broad.mit.edu 37 9 33294992 33294992 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:33294992G>A uc003zsq.2 + 2 661 c.600G>A c.(598-600)CCG>CCA p.P200P SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.P200P|NFX1_uc003zso.2_Silent_p.P200P|NFX1_uc003zsp.1_Silent_p.P200P|NFX1_uc010mjr.1_Silent_p.P200P|NFX1_uc003zsr.2_Silent_p.P200P NM_002504 NP_002495 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 200 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CTCCAAAACCGGAGGATGCTG 0.468 KIAA1161 57462 broad.mit.edu 37 9 34371970 34371970 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:34371970G>A uc003zue.3 - 3 1139 c.972C>T c.(970-972)TAC>TAT p.Y324Y NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 324 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CGGCGCGCCCGTACAGCGCCC 0.597 ENHO 375704 broad.mit.edu 37 9 34521556 34521556 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:34521556T>C uc003zun.1 - 2 562 c.138A>G c.(136-138)GAA>GAG p.E46E ENHO_uc003zuo.2_RNA NM_198573 NP_940975 Q6UWT2 ENHO_HUMAN adropin precursor 46 extracellular region 0 TGGGACTGGATTCAGAGAGAG 0.632 KIAA1045 23349 broad.mit.edu 37 9 34976565 34976565 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:34976565A>G uc003zvq.2 + 5 855 c.677A>G c.(676-678)TAC>TGC p.Y226C KIAA1045_uc003zvr.2_Missense_Mutation_p.Y226C NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 226 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TTTCTGCGTTACCGCCACCAA 0.637 RUSC2 9853 broad.mit.edu 37 9 35547473 35547473 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:35547473G>A uc003zww.2 + 2 1210 c.955G>A c.(955-957)GCC>ACC p.A319T RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 319 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGACCCTGGCGCCTTCTATCT 0.567 GBA2 57704 broad.mit.edu 37 9 35737772 35737772 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:35737772G>A uc003zxw.2 - 16 3002 c.2478C>T c.(2476-2478)TAC>TAT p.Y826Y GBA2_uc003zxx.1_Silent_p.Y121Y|GBA2_uc011lpb.1_Silent_p.Y826Y|GBA2_uc011lpc.1_Silent_p.Y826Y|GBA2_uc011lpd.1_Silent_p.Y832Y NM_020944 NP_065995 Q9HCG7 GBA2_HUMAN bile acid beta-glucosidase 826 Cytoplasmic (Potential). bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity ovary(3)|skin(1) 4 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTGCCAGCCCGTAGACCACAC 0.537 RGP1 9827 broad.mit.edu 37 9 35751682 35751682 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:35751682T>C uc011lpf.1 + 7 834 c.693T>C c.(691-693)TCT>TCC p.S231S GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.S271S NM_001080496 NP_001073965 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog 231 ovary(1) 1 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCTTCAAATCTGTGTACAGAC 0.488 GNE 10020 broad.mit.edu 37 9 36246267 36246267 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:36246267A>G uc010mlh.2 - 3 592 c.377T>C c.(376-378)ATG>ACG p.M126T CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M126T|GNE_uc011lpl.1_Missense_Mutation_p.M67T|GNE_uc010mli.2_Missense_Mutation_p.M157T|GNE_uc010mlj.2_Missense_Mutation_p.M121T NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 126 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) TCGGATGTTCATCAAGGCAGC 0.478 MCART1 92014 broad.mit.edu 37 9 37888456 37888456 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:37888456A>G uc004aau.2 - 3 836 c.92T>C c.(91-93)ATG>ACG p.M31T MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.M31T NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 31 Solcar 1. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) GTAATGCTTCATCTCACCAAC 0.408 CNTNAP3 79937 broad.mit.edu 37 9 39176052 39176052 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:39176052C>T uc004abi.2 - 7 1204 c.965G>A c.(964-966)CGG>CAG p.R322Q CNTNAP3_uc004abj.2_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R322Q|CNTNAP3_uc004abl.1_Missense_Mutation_p.R234Q NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 322 Extracellular (Potential).|Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCTGAATGCCCGCGATCTTCC 0.383 C9orf135 138255 broad.mit.edu 37 9 72435828 72435828 + Nonsense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:72435828G>A uc004ahl.2 + 1 98 c.33G>A c.(31-33)TGG>TGA p.W11* C9orf135_uc011lrw.1_Translation_Start_Site|C9orf135_uc010moq.2_Translation_Start_Site|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Nonsense_Mutation_p.W11*|uc004ahk.2_5'Flank NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 11 Extracellular (Potential). integral to membrane ovary(1) 1 GCCAGGACTGGTGCGACAGGA 0.592 TRPM6 140803 broad.mit.edu 37 9 77354736 77354736 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:77354736G>A uc004ajl.1 - 34 5628 c.5390C>T c.(5389-5391)CCG>CTG p.P1797L TRPM6_uc004ajk.1_Missense_Mutation_p.P1792L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P748L|TRPM6_uc010mpd.1_Missense_Mutation_p.P630L|TRPM6_uc010mpe.1_Missense_Mutation_p.P344L|TRPM6_uc004ajj.1_Missense_Mutation_p.P753L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1797 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 AACTTGTCCCGGCTTGAGAAT 0.507 PRUNE2 158471 broad.mit.edu 37 9 79469112 79469112 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:79469112G>A uc010mpk.2 - 2 173 c.49C>T c.(49-51)CGC>TGC p.R17C PRUNE2_uc004akn.2_Missense_Mutation_p.R17C NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 17 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 TTCTCCAAGCGTTTGCTTCGA 0.338 TLE1 7088 broad.mit.edu 37 9 84205815 84205815 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:84205815G>A uc004aly.2 - 16 2175 c.1734C>T c.(1732-1734)TAC>TAT p.Y578Y TLE1_uc004alz.2_Silent_p.Y588Y|TLE1_uc011lsr.1_Silent_p.Y563Y|TLE1_uc004ama.1_Silent_p.Y577Y NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 578 WD 3. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 TGGCCAGGGCGTAGCAGGCGG 0.617 FLJ46321 389763 broad.mit.edu 37 9 84605984 84605984 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:84605984T>C uc004amn.2 + 4 646 c.599T>C c.(598-600)CTC>CCC p.L200P NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 200 Pro-rich. integral to membrane 0 CCCTTAATTCTCTCACCTGAC 0.552 AUH 549 broad.mit.edu 37 9 94060317 94060317 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:94060317C>T uc004arf.3 - 5 582 c.547G>A c.(547-549)GCT>ACT p.A183T AUH_uc004arg.3_Missense_Mutation_p.A154T|AUH_uc011ltu.1_Missense_Mutation_p.A183T NM_001698 NP_001689 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-Coenzyme A 183 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding 0 CCACCTAAAGCGAGTCCATCT 0.343 IPPK 64768 broad.mit.edu 37 9 95410357 95410357 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:95410357A>G uc004asl.1 - 6 765 c.488T>C c.(487-489)ATG>ACG p.M163T NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 163 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 GTGCTGGTGCATGCAGTATCG 0.483 ZNF367 195828 broad.mit.edu 37 9 99160514 99160514 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:99160514C>T uc004awf.2 - 2 858 c.503G>A c.(502-504)CGT>CAT p.R168H ZNF367_uc004awg.2_Missense_Mutation_p.R168H NM_153695 NP_710162 Q7RTV3 ZN367_HUMAN zinc finger protein 367 168 C2H2-type 1. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0167) GATGTTACAACGGATTCTGCT 0.433 TSTD2 158427 broad.mit.edu 37 9 100380087 100380087 + Silent SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:100380087G>T uc004axn.2 - 4 1043 c.555C>A c.(553-555)ATC>ATA p.I185I TSTD2_uc004axo.2_Translation_Start_Site|TSTD2_uc004axp.1_Translation_Start_Site NM_139246 NP_640339 Q5T7W7 TSTD2_HUMAN thiosulfate sulfurtransferase (rhodanese)-like 185 ovary(2) 2 GCCAGGCACAGATCCATTGGG 0.512 HEMGN 55363 broad.mit.edu 37 9 100693288 100693288 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:100693288T>C uc004axy.2 - 3 497 c.389A>G c.(388-390)GAG>GGG p.E130G HEMGN_uc004axz.2_Missense_Mutation_p.E130G NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 130 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) AAAGTGTTCCTCAGGCACAAC 0.403 CORO2A 7464 broad.mit.edu 37 9 100895424 100895424 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:100895424C>T uc004ayl.2 - 5 810 c.544G>A c.(544-546)GTG>ATG p.V182M CORO2A_uc004aym.2_Missense_Mutation_p.V182M NM_003389 NP_003380 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 182 WD 3. actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding skin(2)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(62;0.0559) GAGAGGATCACATCTTGGTGA 0.542 TBC1D2 55357 broad.mit.edu 37 9 101014085 101014085 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:101014085C>T uc011lvb.1 - 2 673 c.493G>A c.(493-495)GTC>ATC p.V165I TBC1D2_uc004ayq.2_Missense_Mutation_p.V165I|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.V165I NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 165 Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGCAGGACGGGCCCATTC 0.637 PPP3R2 5535 broad.mit.edu 37 9 104357023 104357023 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:104357023C>T uc004bbr.2 - 1 261 c.190G>A c.(190-192)GTC>ATC p.V64I GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 61 EF-hand 2. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) GTGTCGAAGACGTCGATCACT 0.567 SLC44A1 23446 broad.mit.edu 37 9 108126852 108126852 + Silent SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:108126852T>C uc004bcn.2 + 10 1325 c.1104T>C c.(1102-1104)AAT>AAC p.N368N SLC44A1_uc010mtk.1_Silent_p.N368N|SLC44A1_uc004bco.1_Silent_p.N160N NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 368 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) CTGTTCAGAATGAGCAAGGCT 0.428 ZNF483 158399 broad.mit.edu 37 9 114304716 114304716 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:114304716G>T uc004bff.2 + 6 1725 c.1501G>T c.(1501-1503)GGG>TGG p.G501W ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 501 C2H2-type 3. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 TGATGACTGTGGGAAAGGTTT 0.388 C9orf84 158401 broad.mit.edu 37 9 114453877 114453877 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:114453877C>T uc004bfr.2 - 25 4323 c.4188G>A c.(4186-4188)AGG>AGA p.R1396R C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.R1357R|C9orf84_uc010mug.2_Silent_p.R1307R NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1396 ovary(2) 2 ATTCATGGTGCCTTTTCTGTC 0.313 ZFP37 7539 broad.mit.edu 37 9 115805249 115805249 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:115805249C>T uc004bgm.1 - 4 1677 c.1649G>A c.(1648-1650)TGT>TAT p.C550Y ZFP37_uc011lwz.1_Missense_Mutation_p.C565Y|ZFP37_uc011lxa.1_Missense_Mutation_p.C551Y NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 550 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGCTTTCCCACATTCATTACA 0.378 CEP110 11064 broad.mit.edu 37 9 123903687 123903687 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:123903687A>G uc004bkx.1 + 16 2543 c.2512A>G c.(2512-2514)AAA>GAA p.K838E CEP110_uc004bky.1_Missense_Mutation_p.K442E|CEP110_uc004bkz.1_Missense_Mutation_p.K286E|CEP110_uc004bla.1_Missense_Mutation_p.K286E|CEP110_uc010mvo.1_5'Flank NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 838 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 TGTCTTAGGGAAAAGTCTTGC 0.383 OR1L8 138881 broad.mit.edu 37 9 125330410 125330410 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:125330410A>G uc004bmp.1 - 1 347 c.347T>C c.(346-348)CTG>CCG p.L116P NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 CATGACTGCCAGAAGGCAGCT 0.527 OR1K1 392392 broad.mit.edu 37 9 125562752 125562752 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:125562752G>A uc011lze.1 + 1 351 c.351G>A c.(349-351)GCG>GCA p.A117A NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTCTTCTGGCGGCCATGGCCT 0.612 NR5A1 2516 broad.mit.edu 37 9 127262453 127262453 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:127262453G>A uc004boo.1 - 4 973 c.786C>T c.(784-786)TTC>TTT p.F262F NM_004959 NP_004950 Q13285 STF1_HUMAN nuclear receptor subfamily 5, group A, member 1 262 Important for dimerization.|Ligand-binding. cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 ACAGGAGGCCGAAGGCCGCCG 0.662 RABEPK 10244 broad.mit.edu 37 9 127965332 127965332 + Missense_Mutation SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:127965332A>G uc004bpi.2 + 3 213 c.40A>G c.(40-42)AGG>GGG p.R14G RABEPK_uc004bph.1_Missense_Mutation_p.R14G|RABEPK_uc004bpj.2_Missense_Mutation_p.R14G|RABEPK_uc004bpk.2_Missense_Mutation_p.R14G|RABEPK_uc004bpl.1_Missense_Mutation_p.R14G|RABEPK_uc004bpm.2_Missense_Mutation_p.R14G NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 14 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 AGACAAGCCCAGGAAAGCAAC 0.363 SPTAN1 6709 broad.mit.edu 37 9 131346761 131346761 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:131346761G>A uc004bvl.3 + 17 2507 c.2394G>A c.(2392-2394)ACG>ACA p.T798T SPTAN1_uc011mbg.1_Silent_p.T798T|SPTAN1_uc011mbh.1_Silent_p.T810T|SPTAN1_uc004bvm.3_Silent_p.T798T|SPTAN1_uc004bvn.3_Silent_p.T798T NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 798 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATGAGGAGACGTGGATTCGAG 0.547 ZER1 10444 broad.mit.edu 37 9 131503159 131503159 + Missense_Mutation SNP G G T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:131503159G>T uc004bwa.1 - 12 2178 c.1745C>A c.(1744-1746)CCA>CAA p.P582Q NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 582 ARM 3. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 CTGCTTCTCTGGGAATTCCTG 0.463 LRRC8A 56262 broad.mit.edu 37 9 131671140 131671140 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:131671140G>A uc004bwl.3 + 3 1951 c.1697G>A c.(1696-1698)GGC>GAC p.G566D LRRC8A_uc010myp.2_Missense_Mutation_p.G566D|LRRC8A_uc010myq.2_Missense_Mutation_p.G566D NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 566 LRR 8. pre-B cell differentiation integral to membrane 0 ACAGATGTGGGCGTGCACCTG 0.577 NUP188 23511 broad.mit.edu 37 9 131764178 131764178 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:131764178G>A uc004bws.1 + 36 4082 c.4060G>A c.(4060-4062)GCT>ACT p.A1354T NUP188_uc004bwu.2_Missense_Mutation_p.A697T NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1354 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CACAGCAGTGGCTGGAGCTGG 0.597 TOR1A 1861 broad.mit.edu 37 9 132576463 132576463 + Missense_Mutation SNP T T C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:132576463T>C uc004byl.2 - 5 864 c.787A>G c.(787-789)ATT>GTT p.I263V TOR1A_uc004bym.2_RNA NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 263 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) AAATAATCAATGAGGTTCCGG 0.478 MED27 9442 broad.mit.edu 37 9 134955187 134955187 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:134955187G>A uc004cbe.1 - 1 67 c.45C>T c.(43-45)TCC>TCT p.S15S MED27_uc004cbf.1_Silent_p.S15S|MED27_uc011mco.1_Silent_p.S15S|MED27_uc004cbg.3_Silent_p.S15S NM_004269 NP_004260 Q6P2C8 MED27_HUMAN mediator complex subunit 27 15 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity skin(1) 1 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) TAATGGCCTGGGAAAAGGCCT 0.617 RALGDS 5900 broad.mit.edu 37 9 135976954 135976954 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:135976954G>A uc004cco.2 - 16 2427 c.2407C>T c.(2407-2409)CGC>TGC p.R803C RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'UTR|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.R791C|RALGDS_uc004ccr.2_Missense_Mutation_p.R802C|RALGDS_uc011mcv.1_Missense_Mutation_p.R774C|RALGDS_uc004ccs.2_Missense_Mutation_p.R748C|RALGDS_uc011mcw.1_Missense_Mutation_p.R874C|RALGDS_uc004ccv.1_Missense_Mutation_p.P630L|RALGDS_uc004ccu.1_Missense_Mutation_p.R572C NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 803 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGGCTGACGCGGATGATACAG 0.642 T CIITA PMBL|Hodgkin Lymphona| CAMSAP1 157922 broad.mit.edu 37 9 138714882 138714882 + Missense_Mutation SNP A A C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:138714882A>C uc004cgr.3 - 11 1625 c.1625T>G c.(1624-1626)CTT>CGT p.L542R CAMSAP1_uc004cgq.3_Missense_Mutation_p.L432R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.L264R NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 542 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) AATAGCCACAAGCTCCTCTTC 0.592 LHX3 8022 broad.mit.edu 37 9 139091594 139091594 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:139091594G>A uc004cha.2 - 3 481 c.384C>T c.(382-384)GGC>GGT p.G128G LHX3_uc004cgz.2_Silent_p.G133G NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 128 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) AGAACTCGTCGCCCGTGGCCA 0.667 PTGDS 5730 broad.mit.edu 37 9 139873455 139873455 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:139873455G>A uc004cke.2 + 2 200 c.125G>A c.(124-126)CGC>CAC p.R42H PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA NM_000954 NP_000945 P41222 PTGDS_HUMAN prostaglandin D2 synthase, brain 42 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity ovary(1) 1 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TTCCTGGGGCGCTGGTTCAGC 0.711 ABCA2 20 broad.mit.edu 37 9 139905912 139905912 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:139905912C>T uc011mem.1 - 36 5891 c.5743G>A c.(5743-5745)GGC>AGC p.G1915S ABCA2_uc011mel.1_Missense_Mutation_p.G1916S|ABCA2_uc004ckl.1_Missense_Mutation_p.G1846S|ABCA2_uc004ckm.1_Missense_Mutation_p.G1946S NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1915 Helical; (Potential). cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCGGTGATGCCGATGAAGAGA 0.632 MAN1B1 11253 broad.mit.edu 37 9 139983450 139983450 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:139983450C>T uc004cld.2 + 3 493 c.458C>T c.(457-459)TCG>TTG p.S153L MAN1B1_uc004clc.2_Missense_Mutation_p.S54L|MAN1B1_uc011meo.1_Missense_Mutation_p.S54L|MAN1B1_uc011mep.1_Missense_Mutation_p.S153L|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 153 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CCTGAGATTTCGTCACAGGTA 0.458 FAM166A 401565 broad.mit.edu 37 9 140139864 140139864 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:140139864G>A uc004cmi.1 - 3 472 c.417C>T c.(415-417)TGC>TGT p.C139C NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 139 ovary(1) 1 TGCCTGGTGGGCACGGAGGGT 0.652 PNPLA7 375775 broad.mit.edu 37 9 140437937 140437937 + Silent SNP G G A rs139510260 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:140437937G>A uc004cnf.2 - 5 715 c.378C>T c.(376-378)GAC>GAT p.D126D PNPLA7_uc010ncj.1_Silent_p.D151D NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 126 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AATTCTTCACGTCAAACTCCG 0.602 CSF2RA 1438 broad.mit.edu 37 X 1413254 1413254 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:1413254G>A uc010nct.2 + 9 1002 c.680G>A c.(679-681)CGT>CAT p.R227H CSF2RA_uc011mhb.1_Missense_Mutation_p.R227H|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpo.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R94H|CSF2RA_uc004cpp.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncv.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpr.2_Missense_Mutation_p.R227H NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 227 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GTCACCGTACGTTGCAACACG 0.572 SLC25A6 293 broad.mit.edu 37 X 1508411 1508411 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:1508411C>T uc004cpt.2 - 2 417 c.321G>A c.(319-321)ACG>ACA p.T107T SLC25A6_uc004cpu.2_RNA NM_001636 NP_001627 P12236 ADT3_HUMAN adenine nucleotide translocator 3 107 KHTQ -> RHA (in Ref. 5; AAA36750). active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Clodronate(DB00720) TCCAGAACTGCGTGTGCTTGT 0.612 SHROOM2 357 broad.mit.edu 37 X 9864465 9864465 + Silent SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:9864465G>A uc004csu.1 + 4 2607 c.2517G>A c.(2515-2517)ACG>ACA p.T839T NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 839 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GTGAGGGCACGGAGCCCTGGT 0.667 MED14 9282 broad.mit.edu 37 X 40572274 40572274 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:40572274G>A uc004dex.3 - 6 813 c.673C>T c.(673-675)CGT>TGT p.R225C MED14_uc010nhe.1_Missense_Mutation_p.R109C NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 225 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 CCTTCAACACGAAACTTCACC 0.408 PORCN 64840 broad.mit.edu 37 X 48374500 48374500 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:48374500G>A uc010nie.1 + 13 1297 c.1139G>A c.(1138-1140)CGG>CAG p.R380Q PORCN_uc004djr.1_Missense_Mutation_p.R375Q|PORCN_uc004djs.1_Missense_Mutation_p.R369Q|PORCN_uc004djt.1_Missense_Mutation_p.R298Q|PORCN_uc011mlx.1_Missense_Mutation_p.R298Q|PORCN_uc004dju.1_Missense_Mutation_p.R238Q|PORCN_uc004djv.1_Missense_Mutation_p.R380Q|PORCN_uc004djw.1_Missense_Mutation_p.R374Q NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D 380 Extracellular (Potential). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TTGTCAAAGCGGTGCCCGCCA 0.592 KDM5C 8242 broad.mit.edu 37 X 53225096 53225096 + Splice_Site SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:53225096A>G uc004drz.2 - 20 3653 c.3120_splice c.e20+1 p.Q1040_splice KDM5C_uc011moc.1_Splice_Site|KDM5C_uc011mod.1_Splice_Site_p.Q973_splice|KDM5C_uc004dsa.2_Splice_Site_p.Q1039_splice NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 CAGGGTCCTCACTTGGATCTC 0.577 N|F|S clear cell renal carcinoma AR 367 broad.mit.edu 37 X 66905888 66905888 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:66905888G>A uc004dwu.1 + 3 2920 c.1805G>A c.(1804-1806)TGC>TAC p.C602Y AR_uc011mpd.1_Missense_Mutation_p.C602Y|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.C602Y|AR_uc004dwv.1_Missense_Mutation_p.C70Y NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 601 NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor. C -> F (in AIS). cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AGAAATGATTGCACTATTGAT 0.398 Androgen_Insensitivity_Syndrome CDX4 1046 broad.mit.edu 37 X 72667289 72667289 + Missense_Mutation SNP C C T rs145092385 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:72667289C>T uc011mqk.1 + 1 200 c.200C>T c.(199-201)CCG>CTG p.P67L NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 67 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) CCTCACTGGCCGTCTCTGGGA 0.612 BRWD3 254065 broad.mit.edu 37 X 79978130 79978130 + Missense_Mutation SNP G G A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:79978130G>A uc004edt.2 - 17 2070 c.1807C>T c.(1807-1809)CGG>TGG p.R603W BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.R199W|BRWD3_uc004edp.2_Missense_Mutation_p.R432W|BRWD3_uc004edq.2_Missense_Mutation_p.R199W|BRWD3_uc010nmj.1_Missense_Mutation_p.R199W|BRWD3_uc004edr.2_Missense_Mutation_p.R273W|BRWD3_uc004eds.2_Missense_Mutation_p.R199W|BRWD3_uc004edu.2_Missense_Mutation_p.R273W|BRWD3_uc004edv.2_Missense_Mutation_p.R199W|BRWD3_uc004edw.2_Missense_Mutation_p.R199W|BRWD3_uc004edx.2_Missense_Mutation_p.R199W|BRWD3_uc004edy.2_Missense_Mutation_p.R199W|BRWD3_uc004edz.2_Missense_Mutation_p.R273W|BRWD3_uc004eea.2_Missense_Mutation_p.R273W|BRWD3_uc004eeb.2_Missense_Mutation_p.R199W NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 603 ovary(4) 4 GGTACCAACCGTTGGAATTTT 0.398 RPS6KA6 27330 broad.mit.edu 37 X 83352808 83352808 + Nonsense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:83352808C>A uc004eej.1 - 19 1902 c.1825G>T c.(1825-1827)GGA>TGA p.G609* RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.G609*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.G506* NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 609 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 AAAAGGACTCCTAAACTCCAG 0.313 BHLHB9 80823 broad.mit.edu 37 X 102005402 102005402 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:102005402C>T uc010nog.2 + 4 2050 c.1479C>T c.(1477-1479)ATC>ATT p.I493I BHLHB9_uc011mrq.1_Silent_p.I493I|BHLHB9_uc011mrr.1_Silent_p.I493I|BHLHB9_uc011mrs.1_Silent_p.I493I|BHLHB9_uc011mrt.1_Silent_p.I493I|BHLHB9_uc004ejo.2_Silent_p.I493I|BHLHB9_uc011mru.1_Silent_p.I493I|BHLHB9_uc011mrv.1_Silent_p.I493I NM_001142526 NP_001135998 Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class 493 cytoplasm|nucleus binding ovary(2) 2 TAAAACTCATCTTTAACCAGA 0.358 PLP1 5354 broad.mit.edu 37 X 103041549 103041549 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:103041549C>T uc010nov.2 + 4 627 c.347C>T c.(346-348)ACG>ATG p.T116M RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.T116M|PLP1_uc004elj.2_Missense_Mutation_p.T116M|PLP1_uc011msf.1_Missense_Mutation_p.T61M|PLP1_uc010now.1_Missense_Mutation_p.T120M|PLP1_uc010nox.2_Missense_Mutation_p.T70M NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 116 Cytoplasmic (Probable). T -> K (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 CTGAGCGCAACGGTAACAGGG 0.597 H2BFWT 158983 broad.mit.edu 37 X 103267317 103267317 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:103267317A>G uc004elr.2 - 2 519 c.495T>C c.(493-495)ACT>ACC p.T165T NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 165 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 catacagtgaagttctggaaa 0.194 NRK 203447 broad.mit.edu 37 X 105189887 105189887 + Silent SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:105189887C>T uc004emd.2 + 25 4386 c.4083C>T c.(4081-4083)GAC>GAT p.D1361D NRK_uc011msi.1_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1361 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 AATCAGCAGACTCTGAAGGAG 0.438 HNSCC(51;0.14) RBMX 27316 broad.mit.edu 37 X 135958813 135958813 + Silent SNP A A G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:135958813A>G uc004fae.1 - 5 600 c.390T>C c.(388-390)GAT>GAC p.D130D RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Silent_p.D130D|RBMX_uc011mwg.1_Silent_p.D91D|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Silent_p.D91D|RBMX_uc004fag.1_Silent_p.D2D NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 130 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATCCACCGTCATCTGCATCAA 0.318 MAGEC1 9947 broad.mit.edu 37 X 140994236 140994236 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:140994236C>T uc004fbt.2 + 4 1332 c.1046C>T c.(1045-1047)ACT>ATT p.T349I MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 349 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCTCTACTTTATTGAGT 0.478 HNSCC(15;0.026) RPS4Y1 6192 broad.mit.edu 37 Y 2713761 2713761 + Missense_Mutation SNP C C T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrY:2713761C>T uc004fqi.2 + 4 380 c.337C>T c.(337-339)CGC>TGC p.R113C NM_001008 NP_000999 P22090 RS4Y1_HUMAN ribosomal protein S4, Y-linked 1 Y isoform 113 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 TGCTGTTCACCGCATCACAGT 0.458 TBL1Y 90665 broad.mit.edu 37 Y 6954381 6954381 + Missense_Mutation SNP C C A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrY:6954381C>A uc004frb.2 + 16 1850 c.1203C>A c.(1201-1203)AGC>AGA p.S401R TBL1Y_uc004frc.2_Missense_Mutation_p.S401R|TBL1Y_uc004frd.2_Missense_Mutation_p.S401R|TBL1Y_uc011nap.1_Missense_Mutation_p.S243R NM_033284 NP_150600 Q9BQ87 TBL1Y_HUMAN transducin beta-like 1Y 401 WD 6. transcription, DNA-dependent 0 AGGCTCACAGCAAAGAGATCT 0.562 KDM5D 8284 broad.mit.edu 37 Y 21869171 21869171 + Missense_Mutation SNP A A T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrY:21869171A>T uc004fug.2 - 24 4149 c.3861T>A c.(3859-3861)GAT>GAA p.D1287E KDM5D_uc011naz.1_Missense_Mutation_p.D1318E|KDM5D_uc010nwy.2_Missense_Mutation_p.D1230E|KDM5D_uc004fuf.2_Missense_Mutation_p.D462E NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1287 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) GAGCAGTCACATCTTCAGAGG 0.612 ROR1 4919 broad.mit.edu 37 1 64516359 64516359 + Splice_Site DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:64516358_64516358GC>G uc001dbj.2 + 4 851 c.452_splice c.e4-1 p.G151_splice ROR1_uc001dbi.4_Splice_Site_p.G151_splice NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 151 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ATTTCTTCAGGCCCCCCTCCC 0.398 PSME4 23198 broad.mit.edu 37 2 54167140 54167140 + Splice_Site DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:54167139_54167139TG>T uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAA 0.348 DTNBP1 84062 broad.mit.edu 37 6 15638038 15638038 + Splice_Site DEL A A - rs140124163 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:15638037_15638037TA>T uc003nbm.3 - 4 351 c.162_splice c.e4-1 p.R54_splice DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 54 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) TCCTCATACCTAAAAAAAAGC 0.363 Hermansky-Pudlak syndrome EYA1 2138 broad.mit.edu 37 8 72123392 72123392 + Splice_Site DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:72123391_72123391CT>C uc003xyu.3 - 17 2338 c.1698_splice c.e17+1 p.K566_splice EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 566 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATGCTCACCTTTTTTGCTC 0.358 TMEM55A 55529 broad.mit.edu 37 8 92020972 92020972 + Splice_Site DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:92020971_92020971AT>A uc003yes.3 - 5 765 c.539_splice c.e5+1 p.I180_splice NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN Homo sapiens transmembrane protein 55A (TMEM55A), mRNA. 180 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity p.I180fs*6(1) breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) GGGAACTTACATTTTTTTGCA 0.318 DPEP2 64174 broad.mit.edu 37 16 68026099 68026100 + Splice_Site INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:68026098_68026099T>TG uc010cey.3 - 3 555 c.391_splice c.e3-1 p.F131_splice DPEP2_uc002eve.3_Splice_Site_p.F131_splice|DPEP2_uc002evf.3_Splice_Site|DPEP2_uc002evg.3_Intron NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN Homo sapiens dipeptidase 2 (DPEP2), mRNA. 131 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGACCAGAACTGGGGGGAAGGC 0.634 SEMA4B 10509 broad.mit.edu 37 15 90768580 90768582 + In_Frame_Del DEL TCT TCT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:90768580_90768582delTCT uc002boy.2 + 12 1755_1757 c.1472_1474delTCT c.(1471-1476)ATCTTC>ATC p.F492del SEMA4B_uc002boz.2_In_Frame_Del_p.F492del|SEMA4B_uc010uqd.1_In_Frame_Del_p.F330del|SEMA4B_uc002bpa.2_In_Frame_Del_p.F330del|SEMA4B_uc010bnv.1_In_Frame_Del_p.F130del NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) GAGCTGCAGATCTTCTCATCGGG 0.640 AMH 268 broad.mit.edu 37 19 2249675 2249676 + Frame_Shift_Del DEL TA TA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:2249675_2249676delTA uc002lvh.2 + 1 563_564 c.344_345delTA c.(343-345)CTAfs p.L115fs hsa-mir-4321|MI0015852_5'Flank NM_000479 NP_000470 P03971 MIS_HUMAN anti-Mullerian hormone precursor 115 cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination extracellular space growth factor activity|hormone activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTGCCCTCTCTACGGCGGCTGG 0.728 Persistant_Mullerian_Duct_Syndrome_(type_I_and_II) TRIO 7204 broad.mit.edu 37 5 14488156 14488156 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:14488156delC uc003jff.2 + 48 7425 c.7419delC c.(7417-7419)TTCfs p.F2473fs TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Del_p.F2122fs NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2473 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) AGGAGCCCTTCCCCCCCAGCA 0.746 MAGEE2 139599 broad.mit.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - rs61732441 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:75004754delG uc004ecj.1 - 1 318 c.133delC c.(133-135)CAGfs p.Q45fs NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 45 ovary(1)|skin(1) 2 TGAGGGCACTGGGGGGCATCA 0.587 ZBTB48 3104 broad.mit.edu 37 1 6640765 6640765 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:6640764_6640764TG>T uc009vmc.2 + 1 218 c.95_95TG>T c.(94-96)gtgfs p.V32fs ZBTB48_uc001anx.3_Frame_Shift_Del_p.V32fs|ZBTB48_uc009vmd.2_Frame_Shift_Del_p.V32fs NM_005341 NP_005332 P10074 ZBT48_HUMAN Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA. 32 BTB. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|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;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642) ACTCTGGACGTGGGGGGCCTG 0.612 FBLIM1 54751 broad.mit.edu 37 1 16093879 16093879 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:16093878_16093878AC>A uc001axd.1 + 4 701 c.258_258AC>A c.(256-258)ccafs p.P86fs FBLIM1_uc001axe.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axg.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA. 86 Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|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;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CAGGATGCCCACCCCCTCCTC 0.622 ZBTB17 7709 broad.mit.edu 37 1 16268477 16268477 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:16268476_16268476CG>C uc001axl.4 - 15 2639 c.2400_2400CG>G c.(2398-2400)ccgfs p.P800fs ZBTB17_uc010obs.2_Frame_Shift_Del_p.P724fs|ZBTB17_uc010obq.2_Frame_Shift_Del_p.P718fs|ZBTB17_uc010obr.2_Frame_Shift_Del_p.P807fs NM_003443 NP_003434 Q13105 ZBT17_HUMAN Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA. 800 Interaction with HCFC1. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) ACTCGGCAGGCGGGGGACATT 0.627 LYPLA2 11313 broad.mit.edu 37 1 24119502 24119502 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:24119501_24119501AT>A uc001bht.3 + 2 203 c.82_82AT>A c.(82-84)attfs p.I28fs NM_007260 NP_009191 O95372 LYPA2_HUMAN Homo sapiens lysophospholipase II (LYPLA2), mRNA. 28 fatty acid metabolic process cytoplasm hydrolase activity endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TTTCCAGGTTATTTTTTTACA 0.582 STIL 6491 broad.mit.edu 37 1 47717309 47717309 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:47717308_47717308AT>A uc001crd.1 - 16 3522 c.3367_3367AT>T c.(3367-3369)tatfs p.Y1123fs TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.Y1076fs|STIL_uc010omo.1_Frame_Shift_Del_p.Y1105fs|STIL_uc001crc.1_Frame_Shift_Del_p.Y1122fs|STIL_uc001cre.1_Frame_Shift_Del_p.Y1122fs NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 1122 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTCTTCATATATTTTTTGGTT 0.373 ROR1 4919 broad.mit.edu 37 1 64516359 64516359 + Splice_Site DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:64516358_64516358GC>G uc001dbj.2 + 4 851 c.452_splice c.e4-1 p.G151_splice ROR1_uc001dbi.4_Splice_Site_p.G151_splice NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 151 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ATTTCTTCAGGCCCCCCTCCC 0.398 ROR1 4919 broad.mit.edu 37 1 64608186 64608187 + Frame_Shift_Ins INS - - CA TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:64608185_64608186C>CCA uc001dbj.2 + 6 1425_1426 c.1026_1027C>CCA c.(1024-1029)ccccacfs p.P342fs ROR1_uc001dbi.4_Frame_Shift_Ins_p.P342fs|AK096291_uc001dbl.3_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 342 Kringle. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCCAGTATCCCCACACACACAC 0.554 LPHN2 23266 broad.mit.edu 37 1 82447518 82447519 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:82447517_82447518C>CT uc001dit.4 + 17 3269_3270 c.3088_3089C>CT c.(3088-3090)cttfs p.L1030fs LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001div.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc009wcd.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001diw.3_Frame_Shift_Ins_p.L614fs|LPHN2_uc009wce.1_Frame_Shift_Ins_p.L131fs NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 1043 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.A1029T(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CGCTTTCGCTCTTCTGTGTCTT 0.386 GBP7 388646 broad.mit.edu 37 1 89613322 89613323 + Frame_Shift_Ins INS - - C rs138127555 TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:89613321_89613322G>GC uc001dna.2 - 7 1432_1433 c.1293_1294C>GC c.(1291-1296)gggcacfs p.G431fs GBP2_uc001dmy.1_Non-coding_Transcript NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN Homo sapiens guanylate binding protein 7 (GBP7), mRNA. 431 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 RBM15 64783 broad.mit.edu 37 1 110882873 110882873 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:110882872_110882872AC>A uc001dzl.1 + 0 928 c.845_845AC>A c.(844-846)cacfs p.H282fs RBM15_uc001dzm.1_Frame_Shift_Del_p.H282fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.H282fs NM_022768 NP_073605 Q96T37 RBM15_HUMAN Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA. 282 interspecies interaction between organisms nucleus RNA binding|nucleotide binding|protein binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) GGTCACCGGCACCCCCCTGGA 0.622 T MKL1 acute megakaryocytic leukemia SV2A 9900 broad.mit.edu 37 1 149885019 149885020 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:149885018_149885019G>GC uc001etg.3 - 1 865_866 c.374_375C>GC c.(373-375)ggcfs p.G125fs SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA. 125 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATCACTCAAGCCCCCCCTTAC 0.629 GON4L 54856 broad.mit.edu 37 1 155823103 155823103 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:155823102_155823102GA>G uc001flz.2 - 1 567 c.470_470TC>C c.(469-471)tcafs p.S157fs GON4L_uc001fly.1_Frame_Shift_Del_p.S157fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fma.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.S157fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.S157fs|GON4L_uc009wri.3_5'UTR NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 157 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGGCTCTCCTGAAAAAGGCTC 0.448 F5 2153 broad.mit.edu 37 1 169510827 169510828 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:169510826_169510827T>TG uc001ggg.1 - 12 3646_3647 c.3501_3502A>CA c.(3499-3504)cccacafs p.P1167fs NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1167 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.P1167T(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CTTATATCTGTGGGGAAGGACT 0.500 C1orf49 84066 broad.mit.edu 37 1 178489957 178489957 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:178489956_178489956CA>C uc001glt.2 + 6 602 c.490_490CA>C c.(490-492)caafs p.Q164fs C1orf49_uc021pfd.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glu.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc021pfe.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glw.2_Frame_Shift_Del_p.Q172fs|C1orf49_uc001glv.1_Non-coding_Transcript NM_032126 NP_115502 Q5T0J7 CA049_HUMAN Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA. 164 microtubule cytoskeleton breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1) 13 GATGGCACCACAAAAAACAAA 0.552 CR1L 1379 broad.mit.edu 37 1 207850873 207850873 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:207850872_207850872TA>T uc001hga.4 + 1 357 c.236_236TA>T c.(235-237)ctafs p.L79fs CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA. 79 Sushi 1. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ATCATCTGCCTAAAAAACTCA 0.438 WNT9A 7483 broad.mit.edu 37 1 228111954 228111954 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:228111953_228111953GC>G uc001hri.2 - 2 589 c.501_501GC>C c.(499-501)ggcfs p.G167fs NM_003395 NP_003386 O14904 WNT9A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA. 167 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity p.G167fs*38(1)|p.C168fs*6(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) TGTCTCCGCAGCCCCCCCACT 0.632 SLC35F3 148641 broad.mit.edu 37 1 234444860 234444860 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:234444859_234444859AT>A uc001hvy.1 + 3 766 c.621_621AT>A c.(619-621)cgafs p.R207fs SLC35F3_uc001hwa.1_Frame_Shift_Del_p.R138fs NM_173508 NP_775779 Q8IY50 S35F3_HUMAN Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA. 138 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) AATGCTGTCGATTTTTTGGAG 0.378 LYST 1130 broad.mit.edu 37 1 235969716 235969716 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:235969715_235969715TA>T uc001hxj.2 - 5 2896 c.2721_2721TA>A c.(2719-2721)ttafs p.L907fs LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Del_p.L907fs NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 907 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TACTTACGCATAAAAAAGCCA 0.433 OR2C3 81472 broad.mit.edu 37 1 247695193 247695194 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr1:247695192_247695193C>CA uc021pmb.1 - 0 621_622 c.621_622G>TG c.(619-624)tttgttfs p.F207fs C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Ins_p.F207fs NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GGCAGGACAACAAAGACAAAGC 0.540 C2orf42 54980 broad.mit.edu 37 2 70402811 70402812 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:70402810_70402811C>CT uc002sgh.3 - 4 1361_1362 c.1033_1034G>AG c.(1033-1035)aggfs p.R345fs NM_017880 NP_060350 Q9NWW7 CB042_HUMAN Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA. 345 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CTTACCCTGCCTTTTTAACGAG 0.450 FBLN7 129804 broad.mit.edu 37 2 112940399 112940399 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:112940398_112940398AG>A uc002tho.1 + 5 972 c.701_701AG>A c.(700-702)gagfs p.E234fs FBLN7_uc010fki.1_Frame_Shift_Del_p.E188fs|FBLN7_uc010fkj.1_Intron NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA. 234 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TACGGGCAGGAGGGGCGCCCC 0.617 CRYGD 1421 broad.mit.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:209025576_209025576AC>A uc002vcq.4 - 2 494 c.477_477GT>T c.(475-477)ggtfs p.G159fs CRYGD_uc021vvu.1_Intron NM_014617 NP_055432 P07320 CRGD_HUMAN Homo sapiens crystallin, gamma A (CRYGA), mRNA. 159 Beta/gamma crystallin 'Greek key' 4. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TGGCATCTGCACCCCCCCAGT 0.527 COL4A4 1286 broad.mit.edu 37 2 227914822 227914822 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr2:227914821_227914821AG>A uc021vxr.1 - 32 3278 c.3177_3177CT>T c.(3175-3177)cctfs p.P1059fs COL4A4_uc021vxs.1_Frame_Shift_Del_p.P1059fs NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1059 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGAAAATCCAGGGGGACCTG 0.423 EOMES 8320 broad.mit.edu 37 3 27761703 27761703 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:27761702_27761702GC>G uc003cdy.3 - 1 996 c.996_996GC>C c.(994-996)ggcfs p.G332fs EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs NM_005442 NP_005433 O95936 EOMES_HUMAN Homo sapiens eomesodermin (EOMES), mRNA. 332 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 TCACCCATTTGCCCCCCTGGA 0.577 KLHDC8B 200942 broad.mit.edu 37 3 49211691 49211691 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49211690_49211690TG>T uc003cwh.3 + 2 630 c.395_395TG>T c.(394-396)ctgfs p.L132fs KLHDC8B_uc003cwi.1_Frame_Shift_Del_p.L5fs NM_173546 NP_775817 Q8IXV7 KLD8B_HUMAN Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA. 132 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTGTATGCTCTGGGGGGAATG 0.612 CCDC36 339834 broad.mit.edu 37 3 49294312 49294312 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49294311_49294311CA>C uc003cwk.2 + 9 1768 c.1381_1381CA>C c.(1381-1383)caafs p.Q461fs CCDC36_uc011bck.1_Frame_Shift_Del_p.Q461fs NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA. 461 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) AGCCAGCAAGCAAAAACAAAT 0.512 BSN 8927 broad.mit.edu 37 3 49688112 49688112 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49688111_49688111AC>A uc003cxe.4 + 3 1699 c.1585_1585AC>A c.(1585-1587)accfs p.T529fs NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 529 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) AGGAGAGCCGACCCCCCTGCC 0.617 BSN 8927 broad.mit.edu 37 3 49689123 49689123 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:49689122_49689122AG>A uc003cxe.4 + 4 2247 c.2133_2133AG>A c.(2131-2133)gcafs p.A711fs NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 711 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGGACAGTGCAGGGGTGACAG 0.627 STAB1 23166 broad.mit.edu 37 3 52556205 52556205 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:52556204_52556204CG>C uc003dej.3 + 58 6497 c.6423_6423CG>C c.(6421-6423)cgcfs p.R2141fs STAB1_uc003dek.1_Frame_Shift_Del_p.R156fs|STAB1_uc003del.3_Frame_Shift_Del_p.R28fs NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2141 EGF-like 16. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) ATGGCCACCGCGGGGGCTGCA 0.667 ERC2 26059 broad.mit.edu 37 3 56114958 56114958 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:56114957_56114957GT>G uc021wzo.1 - 5 1669 c.1529_1529AC>C c.(1528-1530)acafs p.T510fs ERC2_uc003dhr.1_Frame_Shift_Del_p.T510fs|ERC2_uc003dht.1_5'UTR NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 510 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TAGCTGTTTTGTTTTTTTATT 0.388 FAM116A 201627 broad.mit.edu 37 3 57619023 57619023 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:57619022_57619022CA>C uc003dja.3 - 14 1394 c.1323_1323TG>G c.(1321-1323)ttgfs p.L441fs NM_152678 NP_689891 Q8IWF6 F116A_HUMAN Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA. 441 p.L441fs*3(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607) GTGTCAGTTCCAAAAAATAGC 0.333 STAG1 10274 broad.mit.edu 37 3 136323166 136323167 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:136323165_136323166T>TC uc003era.1 - 3 574_575 c.282_283A>GA c.(280-285)gggaaafs p.G94fs STAG1_uc003erb.1_Frame_Shift_Ins_p.G94fs|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Frame_Shift_Ins_p.G94fs NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN Homo sapiens stromal antigen 1 (STAG1), mRNA. 94 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 ATTGCACTTTTCCCCAGTTTCA 0.411 ATR 545 broad.mit.edu 37 3 142242921 142242922 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:142242920_142242921T>TC uc003eux.4 - 21 4188_4189 c.4066_4067A>GA c.(4066-4068)gaafs p.E1356fs NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1356 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCCTAAACATTCCCCACAGAGC 0.416 Other conserved DNA damage response genes NMD3 51068 broad.mit.edu 37 3 160942804 160942805 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:160942803_160942804C>CA uc003feb.1 + 2 249_250 c.130_131C>CA c.(130-132)caafs p.Q44fs NMD3_uc003fec.3_Frame_Shift_Ins_p.Q44fs|NMD3_uc003fed.1_Frame_Shift_Ins_p.Q44fs NM_015938 NP_057022 Q96D46 NMD3_HUMAN Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA. 44 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GGACATCAGCCAAGGTATTCCG 0.391 TMEM41A 90407 broad.mit.edu 37 3 185212518 185212518 + Frame_Shift_Del DEL A A - rs150885877 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr3:185212517_185212517GA>G uc003fpj.2 - 3 564 c.468_468TC>C c.(466-468)ttcfs p.F156fs TMEM41A_uc003fpl.2_3'UTR NM_080652 NP_542383 Q96HV5 TM41A_HUMAN Homo sapiens transmembrane protein 41A (TMEM41A), mRNA. 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACA 0.443 PIGG 54872 broad.mit.edu 37 4 524250 524251 + Frame_Shift_Del DEL TA TA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:524249_524250TTA>T uc003gak.4 + 10 2422_2423 c.2286_2287TTA>T c.(2284-2289)gtttatfs p.V762fs PIGG_uc003gaj.4_Frame_Shift_Del_p.V754fs|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Frame_Shift_Del_p.V629fs|PIGG_uc003gal.4_Frame_Shift_Del_p.V673fs NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA. 762 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 CTCGTTTTGTTTATGTCTTTGT 0.366 LARP1B 55132 broad.mit.edu 37 4 129127627 129127628 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:129127626_129127627G>GA uc003iga.3 + 17 2484_2485 c.2353_2354G>GA c.(2353-2355)gaafs p.E785fs LARP1B_uc003igc.3_Frame_Shift_Ins_p.E204fs|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Intron NM_018078 NP_060548 Q659C4 LAR1B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA. 785 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TTATGGACTGGAAAAAAAATTC 0.292 CLGN 1047 broad.mit.edu 37 4 141321549 141321549 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr4:141321548_141321548CT>C uc011chi.2 - 7 875 c.657_657AG>G c.(655-657)aagfs p.K219fs CLGN_uc003iii.3_Frame_Shift_Del_p.K219fs NM_001130675 NP_004353 O14967 CLGN_HUMAN Homo sapiens calmegin (CLGN), transcript variant 2, mRNA. 219 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding p.K218E(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) CTGTAAAGAACTTTTTAAGGT 0.333 MAP3K1 4214 broad.mit.edu 37 5 56170909 56170910 + Frame_Shift_Del DEL GA GA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:56170908_56170909TGA>T uc003jqw.4 + 9 2237_2238 c.1736_1737TGA>T c.(1735-1737)gtgfs p.V579fs NM_005921 NP_005912 Q13233 M3K1_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA. 579 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AACTGGAATGTGAGAGAGATGG 0.485 PCDHAC2 56134 broad.mit.edu 37 5 140250189 140250190 + Frame_Shift_Del DEL CG CG - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140250188_140250189CCG>C uc003lia.2 + 0 2358_2359 c.1500_1501CCG>C c.(1498-1503)gaccgcfs p.D500fs PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Frame_Shift_Del_p.D500fs NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 515 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.K499K(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTGGGCGACCGCGCGCTGTC 0.678 PCDHGC5 56097 broad.mit.edu 37 5 140725098 140725098 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:140725097_140725097GC>G uc003ljm.2 + 0 1497 c.1497_1497GC>G c.(1495-1497)gcgfs p.A499fs PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Frame_Shift_Del_p.A499fs NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 501 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCAGGGGGCGCCCCTGTCCT 0.542 TBC1D9B 23061 broad.mit.edu 37 5 179290809 179290810 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr5:179290808_179290809G>GC uc003mlh.3 - 21 3427_3428 c.3392_3393C>GC c.(3391-3393)ggcfs p.G1131fs TBC1D9B_uc003mli.3_Frame_Shift_Ins_p.G1114fs|TBC1D9B_uc003mlj.3_Frame_Shift_Ins_p.G1113fs|TBC1D9B_uc003mlf.3_Frame_Shift_Ins_p.G205fs|TBC1D9B_uc003mlg.3_Frame_Shift_Ins_p.G290fs|TBC1D9B_uc011dgv.2_Frame_Shift_Ins_p.G290fs NM_198868 NP_942568 Q66K14 TBC9B_HUMAN Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA. 1131 integral to membrane|intracellular Rab GTPase activator activity|calcium ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 28 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCGCCGCTGCCCCCCTCCAC 0.644 DDR1 780 broad.mit.edu 37 6 30863251 30863251 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:30863250_30863250GC>G uc003nrv.3 + 10 1625 c.1583_1583GC>G c.(1582-1584)ggcfs p.G528fs DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrs.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Frame_Shift_Del_p.A300fs NM_013994 NP_054700 Q08345 DDR1_HUMAN Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA. 528 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CGAGGCCCGGGCCCCCCCACA 0.687 HSPA1L 3305 broad.mit.edu 37 6 31779627 31779627 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:31779626_31779626TG>T uc003nxh.3 - 1 307 c.124_124CA>A c.(124-126)agcfs p.S42fs HSPA1L_uc010jte.3_Frame_Shift_Del_p.S42fs|HSPA1L_uc021yuz.1_Frame_Shift_Del_p.S42fs NM_005527 NP_005518 P34931 HS71L_HUMAN Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA. 42 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GCCACGTAGCTGGGGGTGGTG 0.582 SPATS1 221409 broad.mit.edu 37 6 44336141 44336142 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:44336140_44336141C>CA uc021yzz.1 + 5 700_701 c.599_600C>CA c.(598-600)ccafs p.P200fs TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Frame_Shift_Ins_p.P85fs|SPATS1_uc003oxk.3_Frame_Shift_Ins_p.P200fs NM_145026 NP_659463 Q496A3 SPAS1_HUMAN Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA. 200 NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1) 14 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATGGAATCCCAAAGTTAACTC 0.411 CDC5L 988 broad.mit.edu 37 6 44371656 44371656 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:44371655_44371655GA>G uc003oxl.3 + 5 959 c.649_649GA>G c.(649-651)gaafs p.E217fs NM_001253 NP_001244 Q99459 CDC5L_HUMAN Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA. 217 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATCCCATTTGAAAAAAAGCC 0.398 COL12A1 1303 broad.mit.edu 37 6 75799878 75799878 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:75799877_75799877GC>G uc021zbv.1 - 61 8925 c.8890_8890GC>C c.(8890-8892)cggfs p.R2964fs COL12A1_uc021zbw.1_Frame_Shift_Del_p.R1800fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.R2964fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.R1800fs NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2964 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AAGCCTGGCCGCCCCCCAGGC 0.617 LCA5 167691 broad.mit.edu 37 6 80196842 80196843 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:80196841_80196842G>GA uc003piy.3 - 8 2585_2586 c.1973_1974C>TC c.(1972-1974)ttcfs p.F658fs LCA5_uc003pix.3_Frame_Shift_Ins_p.F658fs NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 658 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CTTCACTGAGGAAAAAGCCTTC 0.396 LAMA2 3908 broad.mit.edu 37 6 129759816 129759816 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:129759815_129759815TA>T uc021zfb.1 + 41 6098 c.5993_5993TA>T c.(5992-5994)ttafs p.L1998fs LAMA2_uc003qbn.3_Frame_Shift_Del_p.L1998fs|LAMA2_uc003qbo.3_Frame_Shift_Del_p.L1998fs|U6_uc021zfc.1_5'Flank NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 1998 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTAAATGGCTTAAAAACCAGG 0.338 AKAP12 9590 broad.mit.edu 37 6 151672365 151672365 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:151672364_151672364AC>A uc011eep.2 + 3 3078 c.2838_2838AC>A c.(2836-2838)gaafs p.E946fs AKAP12_uc003qoe.3_Frame_Shift_Del_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.E841fs NM_005100 NP_005091 Q02952 AKA12_HUMAN Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA. 946 E -> G (in Ref. 4; CAH18338). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CAGAAGAAGAACCCCCCACGG 0.527 SYNE1 23345 broad.mit.edu 37 6 152708428 152708428 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr6:152708427_152708427AT>A uc021zhb.1 - 51 8490 c.8267_8267AT>T c.(8266-8268)atafs p.I2756fs SYNE1_uc003qot.4_Frame_Shift_Del_p.I2763fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.I2756fs|SYNE1_uc010kjb.1_Frame_Shift_Del_p.I2739fs NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 2756 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding p.K2755*(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGGATGTTCTATTTTTTGATC 0.453 HNSCC(10;0.0054) COL28A1 340267 broad.mit.edu 37 7 7495740 7495740 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:7495739_7495739TC>T uc003src.1 - 15 1424 c.1307_1307GA>A c.(1306-1308)gatfs p.D436fs COL28A1_uc011jxe.1_Frame_Shift_Del_p.D119fs|COL28A1_uc003srd.3_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 436 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) AGGTCCTATATCCCCCTGCAC 0.408 PCLO 27445 broad.mit.edu 37 7 82764463 82764464 + Frame_Shift_Ins INS - - T TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:82764462_82764463G>GT uc003uhx.2 - 2 2692_2693 c.2403_2404C>AC c.(2401-2406)aaacccfs p.K801fs PCLO_uc003uhv.2_Frame_Shift_Ins_p.K801fs NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 747 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTCTGTGAGGGTTTGGCAGAGT 0.426 ZAN 7455 broad.mit.edu 37 7 100349935 100349936 + Frame_Shift_Ins INS - - A TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:100349934_100349935G>GA uc003uwj.3 + 13 2371_2372 c.2206_2207G>GA c.(2206-2208)gaafs p.E736fs ZAN_uc003uwk.3_Frame_Shift_Ins_p.E736fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 736 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CATCTCCCCAGAAAAACCCACC 0.520 RELN 5649 broad.mit.edu 37 7 103236957 103236958 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:103236956_103236957G>GC uc022ajr.1 - 24 3645_3646 c.3485_3486C>GC c.(3484-3486)ggcfs p.G1162fs RELN_uc022ajq.1_Frame_Shift_Ins_p.G1162fs|RELN_uc010liz.3_Frame_Shift_Ins_p.G1162fs NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1162 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GCCACTGGATGCCCCCATTGTT 0.510 SLC13A4 26266 broad.mit.edu 37 7 135368918 135368918 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr7:135368917_135368917AG>A uc003vtb.3 - 14 2390 c.1701_1701CT>T c.(1699-1701)cctfs p.P567fs SLC13A4_uc003vta.3_Frame_Shift_Del_p.P566fs|C7orf73_uc003vsz.4_Intron NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA. 566 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 CGATGGCATTAGGGGGATTGC 0.552 TNKS 8658 broad.mit.edu 37 8 9565940 9565940 + Frame_Shift_Del DEL A A - rs56411177 byFrequency TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:9565939_9565939TA>T uc003wss.3 + 8 1520 c.1515_1515TA>T c.(1513-1515)gttfs p.V505fs TNKS_uc011kwv.1_Frame_Shift_Del_p.V505fs|TNKS_uc011kww.2_Frame_Shift_Del_p.V268fs NM_003747 NP_003738 O95271 TNKS1_HUMAN Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA. 505 Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) TAGCTAAAGTTAAAAAAACAC 0.328 EYA1 2138 broad.mit.edu 37 8 72123392 72123392 + Splice_Site DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:72123391_72123391CT>C uc003xyu.3 - 17 2338 c.1698_splice c.e17+1 p.K566_splice EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 566 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATGCTCACCTTTTTTGCTC 0.358 TMEM55A 55529 broad.mit.edu 37 8 92020972 92020972 + Splice_Site DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr8:92020971_92020971AT>A uc003yes.3 - 5 765 c.539_splice c.e5+1 p.I180_splice NM_018710 NP_061180 Q8N4L2 TM55A_HUMAN Homo sapiens transmembrane protein 55A (TMEM55A), mRNA. 180 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity p.I180fs*6(1) breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) GGGAACTTACATTTTTTTGCA 0.318 PIGO 84720 broad.mit.edu 37 9 35091523 35091523 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:35091522_35091522TG>T uc003zwd.3 - 6 2758 c.2362_2362CA>A c.(2362-2364)actfs p.T788fs PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(2) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCT 0.602 PRUNE2 158471 broad.mit.edu 37 9 79267433 79267433 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr9:79267432_79267432CG>C uc010mpk.3 - 10 8648 c.8524_8524CG>G c.(8524-8526)gatfs p.D2842fs PRUNE2_uc011lsk.2_Frame_Shift_Del_p.D91fs|PRUNE2_uc011lsl.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc011lsm.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc004akj.4_Frame_Shift_Del_p.D295fs|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Frame_Shift_Del_p.D295fs NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2842 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCTGCTTCATCGGGGGTATCA 0.393 LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:890938_890938GT>G uc001ifs.1 - 4 529 c.488_488AC>C c.(487-489)acafs p.T163fs NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 163 HTH La-type RNA-binding. RNA binding|nucleotide binding p.T163P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GAATTCCAATGTTTTTTTAAG 0.353 CUBN 8029 broad.mit.edu 37 10 16967360 16967360 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:16967359_16967359CA>C uc001ioo.3 - 42 6579 c.6527_6527TG>G c.(6526-6528)tgtfs p.C2176fs NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 2176 CUB 15. 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 breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGACTGCCACAAAAATGACC 0.383 DNAJC1 64215 broad.mit.edu 37 10 22208818 22208818 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:22208817_22208817CT>C uc001irc.3 - 4 866 c.579_579AG>G c.(577-579)aagfs p.K193fs DNAJC1_uc021pnz.1_Non-coding_Transcript NM_022365 NP_071760 Q96KC8 DNJC1_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA. 193 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) TGCTGCCAGTCTTTTTTTTCT 0.303 KIAA1217 56243 broad.mit.edu 37 10 24832910 24832910 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:24832909_24832909GA>G uc001iru.4 + 18 5113 c.4710_4710GA>G c.(4708-4710)aagfs p.K1570fs KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Del_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Del_p.K406fs NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1570 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AAAGCCCCAAGAAAAAGTTTA 0.468 ZMIZ1 57178 broad.mit.edu 37 10 81067262 81067263 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:81067261_81067262A>AC uc001kaf.2 + 22 3340_3341 c.2768_2769A>AC c.(2767-2769)cacfs p.H923fs ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.H76fs NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 923 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CAGCTCTCCCACCCCCCGGACA 0.609 WAPAL 23063 broad.mit.edu 37 10 88259918 88259918 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:88259917_88259917TA>T uc001kdn.3 - 3 1221 c.1212_1212TA>A c.(1210-1212)ttafs p.L404fs WAPAL_uc001kdo.3_Frame_Shift_Del_p.L361fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.L361fs NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA. 361 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AAGATGGATGTAAAACAGTGT 0.448 PI4K2A 55361 broad.mit.edu 37 10 99344577 99344577 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr10:99344576_99344576AC>A uc010qoy.1 + 0 475 c.116_116AC>A c.(115-117)tacfs p.Y39fs PI4K2A_uc001knx.2_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001kny.3_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001knz.3_Frame_Shift_Del_p.Y39fs NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA. 0 Poly-Ala. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GCGGGTATCTACCCCCCTGTG 0.592 PTPN5 84867 broad.mit.edu 37 11 18765665 18765665 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:18765664_18765664AG>A uc001mpd.3 - 3 611 c.180_180CT>T c.(178-180)cctfs p.P60fs PTPN5_uc001mpb.3_Frame_Shift_Del_p.P60fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.P5fs NM_006906 NP_116170 P54829 PTN5_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA. 60 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 GCGAGGGAGGAGGGGGTGGCG 0.647 SVIP 258010 broad.mit.edu 37 11 22848803 22848803 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:22848802_22848802AT>A uc001mqp.4 - 2 258 c.170_170AT>T c.(169-171)atafs p.I57fs NM_148893 NP_683691 Q8NHG7 SVIP_HUMAN Homo sapiens small VCP/p97-interacting protein (SVIP), mRNA. 57 Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 3 TTGTTTTTCTATTTTTTCCTT 0.338 GANAB 23193 broad.mit.edu 37 11 62407174 62407174 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:62407173_62407173TA>T uc001nua.3 - 1 102 c.69_69TA>A c.(67-69)ttafs p.L23fs GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 23 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GGCAGACCCCTAAAAAAGCCA 0.478 MYO7A 4647 broad.mit.edu 37 11 76873961 76873962 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:76873960_76873961T>TC uc001oyb.2 + 13 1888_1889 c.1616_1617T>TC c.(1615-1617)atcfs p.I539fs MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 539 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity p.K542fs*80(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCCAACTACATCCCCCCCAAGA 0.564 SLC36A4 120103 broad.mit.edu 37 11 92918940 92918940 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:92918939_92918939CA>C uc001pdn.3 - 1 194 c.97_97TG>G c.(97-99)gatfs p.D33fs SLC36A4_uc001pdm.3_5'UTR NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA. 33 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GATGTCCCATCAAAATTCTGC 0.358 CASP4 837 broad.mit.edu 37 11 104825505 104825505 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:104825504_104825504TA>T uc001pid.1 - 1 305 c.232_232TA>A c.(232-234)aacfs p.N78fs CASP4_uc001pib.1_Frame_Shift_Del_p.N22fs|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Frame_Shift_Del_p.N78fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.N78fs NM_001225 NP_150649 P49662 CASP4_HUMAN Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA. 78 CARD. apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2) 23 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) TGGTCTATGTTAAAAAAGGTT 0.373 SIK3 23387 broad.mit.edu 37 11 116733011 116733012 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:116733010_116733011G>GC uc001ppy.3 - 15 1854_1855 c.1818_1819C>GC c.(1816-1821)gggcagfs p.G606fs SIK3_uc001ppz.3_Frame_Shift_Ins_p.G505fs|SIK3_uc001pqa.3_Frame_Shift_Ins_p.G606fs|SIK3_uc001ppw.3_Frame_Shift_Ins_p.G23fs|SIK3_uc001ppx.3_Frame_Shift_Ins_p.G81fs|SIK3_uc001pqb.3_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN Homo sapiens SIK family kinase 3 (SIK3), mRNA. 606 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCATCAATCTGCCCCCCGTACA 0.500 DSCAML1 57453 broad.mit.edu 37 11 117375668 117375668 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:117375667_117375667TG>T uc001prh.1 - 9 2336 c.2334_2334CA>A c.(2332-2334)ccafs p.P778fs NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 718 Ig-like C2-type 8. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGACCTTGGGTGGGGGGTAGC 0.592 CCDC153 283152 broad.mit.edu 37 11 119061043 119061043 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr11:119061042_119061042AG>A uc010rze.2 - 6 814 c.600_600CT>T c.(598-600)cctfs p.P200fs NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 200 lung(3)|stomach(1) 4 TCAAAGATCCAGGGGGGGTGA 0.572 GUCY2C 2984 broad.mit.edu 37 12 14794043 14794045 + In_Frame_Del DEL AGA AGA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:14794042_14794044TAGA>T uc001rcd.3 - 17 2177_2179 c.2040_2042TCTA>A c.(2038-2043)ttctac>ttAc p.680_681FY>L NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 680 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GCTCAAAGTGTAGAAGGTTTCTT 0.512 PRPF40B 25766 broad.mit.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:50025257_50025257TC>T uc001rur.1 + 1 155 c.92_92TC>T c.(91-93)atcfs p.I31fs PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA. 31 Pro-rich. RNA splicing|mRNA processing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCACCAGCTATCCCCCCCATG 0.607 NAA25 80018 broad.mit.edu 37 12 112485541 112485543 + In_Frame_Del DEL TCT TCT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr12:112485540_112485542ATCT>A uc001ttm.3 - 16 1991_1993 c.1933_1935AGAT>T c.(1933-1935)gat>T p.D646del NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_In_Frame_Del_p.D618del|NAA25_uc009zwa.2_In_Frame_Del_p.D646del NM_024953 NP_079229 Q14CX7 NAA25_HUMAN Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA. 646 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ATGGAATGTCATCTTCTTCTGGC 0.355 PCDH8 5100 broad.mit.edu 37 13 53420216 53420216 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr13:53420215_53420215GC>G uc001vhi.3 - 0 2561 c.2357_2357GC>C c.(2356-2358)gccfs p.A786fs PCDH8_uc001vhj.3_Intron NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 786 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTCCCGGAGGGCCCCCCCTTT 0.751 SYNE2 23224 broad.mit.edu 37 14 64681100 64681100 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:64681099_64681099TC>T uc001xgl.3 + 105 19474 c.19244_19244TC>T c.(19243-19245)atcfs p.I6415fs SYNE2_uc001xgm.3_Frame_Shift_Del_p.I6415fs|SYNE2_uc010apy.3_Frame_Shift_Del_p.I2800fs|SYNE2_uc001xgn.3_Frame_Shift_Del_p.I1377fs|SYNE2_uc021rui.1_Frame_Shift_Del_p.I1402fs|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Frame_Shift_Del_p.I385fs|SYNE2_uc001xgq.3_Frame_Shift_Del_p.I780fs|SYNE2_uc001xgr.3_Frame_Shift_Del_p.I198fs|SYNE2_uc010tsi.2_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgs.3_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgt.3_5'Flank NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 6415 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GTGGACTCCATCCCCCTGGAG 0.642 ZFP36L1 677 broad.mit.edu 37 14 69256455 69256455 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:69256454_69256454AC>A uc021rve.1 - 2 1114 c.1020_1020GT>T c.(1018-1020)ggtfs p.G340fs ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs NM_001244701 NP_001231630 Q07352 TISB_HUMAN Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA. 271 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TCGGGGAGCCACCCCCGGGCA 0.637 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BTBD7 55727 broad.mit.edu 37 14 93709015 93709015 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr14:93709014_93709014GT>G uc001ybo.3 - 10 3330 c.3004_3004AC>C c.(3004-3006)cagfs p.Q1002fs BTBD7_uc010aur.3_Frame_Shift_Del_p.Q527fs|BTBD7_uc010two.2_Frame_Shift_Del_p.Q822fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Q651fs NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA. 1002 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GCTTCTTCCTGTTTTTTAGGA 0.488 B2M 567 broad.mit.edu 37 15 45003786 45003789 + Frame_Shift_Del DEL TCTT TCTT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:45003785_45003788CTCTT>C uc001zuc.3 + 0 101_104 c.41_44CTCTT>C c.(40-45)tctcttfs p.S14fs B2M_uc010uek.1_Frame_Shift_Del_p.S14fs|B2M_uc010bdx.1_Frame_Shift_Del_p.S14fs NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 14 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.L15fs*41(6)|p.A11fs*42(1)|p.L13F(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GCGCTACTCTCTCTTTCTGGCCTG 0.618 MEX3B 84206 broad.mit.edu 37 15 82336174 82336174 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr15:82336173_82336173TC>T uc002bgq.1 - 1 1353 c.1038_1038GA>A c.(1036-1038)ggafs p.G346fs NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA. 346 protein autophosphorylation cytoplasmic mRNA processing body|nucleus RNA binding|calcium ion binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CTGAGGCTTCTCCCCCCGCTG 0.647 USP7 7874 broad.mit.edu 37 16 8993506 8993508 + In_Frame_Del DEL ATC ATC - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:8993505_8993507GATC>G uc002czl.2 - 21 2616_2618 c.2417_2419GATC>C c.(2416-2421)gatcct>gCct p.806_807DP>A USP7_uc010uyk.1_In_Frame_Del_p.707_708DP>A|USP7_uc010uyj.1_In_Frame_Del_p.707_708DP>A|USP7_uc002czk.2_In_Frame_Del_p.790_791DP>A NM_003470 NP_003461 Q93009 UBP7_HUMAN Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA. 806 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process PML body|cytoplasm cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.D806Y(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ACAAATCCAGGATCATTAGGGAT 0.369 RSL1D1 26156 broad.mit.edu 37 16 11931680 11931680 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:11931679_11931679AT>A uc002dbp.1 - 8 1511 c.1438_1438AT>T c.(1438-1440)tggfs p.W480fs RSL1D1_uc010buv.1_Frame_Shift_Del_p.W479fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.W260fs NM_015659 NP_056474 O76021 RL1D1_HUMAN Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA. 480 regulation of protein localization|translation large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 TTTTTGGGCCATTTTTTGGGG 0.453 ABCC1 4363 broad.mit.edu 37 16 16101774 16101774 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:16101773_16101773TC>T uc010bvi.3 + 1 324 c.149_149TC>T c.(148-150)ttcfs p.F50fs ABCC1_uc010bvj.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvk.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvl.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvm.3_Frame_Shift_Del_p.F50fs|ABCC1_uc002del.4_5'Flank NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 50 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGGGCCTGTTTCCCCTTCTAC 0.507 ACSM3 6296 broad.mit.edu 37 16 20796371 20796371 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:20796370_20796370GA>G uc010vba.2 + 7 1246 c.1171_1171GA>G c.(1171-1173)gaafs p.E391fs ACSM3_uc002dhq.3_Frame_Shift_Del_p.E362fs|ACSM3_uc002dhr.3_Frame_Shift_Del_p.E362fs|ERI2_uc002dhs.3_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 362 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TGACGTGACTGAAAAATGGAG 0.423 PLK1 5347 broad.mit.edu 37 16 23698897 23698898 + Frame_Shift_Del DEL CA CA - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:23698896_23698897GCA>G uc002dlz.1 + 5 1196_1197 c.1143_1144GCA>G c.(1141-1146)ctgcacfs p.L381fs NM_005030 NP_005021 P53350 PLK1_HUMAN Homo sapiens polo-like kinase 1 (PLK1), mRNA. 381 G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) TGCAGCAGCTGCACAGTGTCAA 0.624 ATXN2L 11273 broad.mit.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:28847349_28847349TG>T uc002dqy.3 + 21 3158 c.2991_2991TG>T c.(2989-2991)catfs p.H997fs NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs NM_148414 NP_680780 Q8WWM7 ATX2L_HUMAN Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA. 997 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCCAGAGTCATGGGGGGCCCC 0.687 DPEP2 64174 broad.mit.edu 37 16 68026099 68026100 + Splice_Site INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:68026098_68026099T>TG uc010cey.3 - 3 555 c.391_splice c.e3-1 p.F131_splice DPEP2_uc002eve.3_Splice_Site_p.F131_splice|DPEP2_uc002evf.3_Splice_Site|DPEP2_uc002evg.3_Intron NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN Homo sapiens dipeptidase 2 (DPEP2), mRNA. 131 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGACCAGAACTGGGGGGAAGGC 0.634 WDR59 79726 broad.mit.edu 37 16 74976691 74976691 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr16:74976690_74976690AT>A uc002fdh.1 - 6 582 c.480_480AT>T c.(478-480)aatfs p.N160fs WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 160 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GGCAGTTAGCATTTTTTTTAT 0.498 WRAP53 55135 broad.mit.edu 37 17 7606715 7606715 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:7606714_7606714TG>T uc010vuh.2 + 10 1712 c.1557_1557TG>T c.(1555-1557)tgtfs p.C519fs WRAP53_uc010vui.2_Frame_Shift_Del_p.C519fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.C486fs|EFNB3_uc002gis.3_5'Flank NM_001143990 NP_060551 Q9BUR4 WAP53_HUMAN Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA. 519 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex RNA binding|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2) 18 TCTGGTGGTGTGGGGGGGCGC 0.602 SEZ6 124925 broad.mit.edu 37 17 27296914 27296914 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:27296913_27296913GC>G uc002hdp.2 - 3 1110 c.916_916GC>C c.(916-918)cctfs p.P306fs SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Del_p.P306fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.P181fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.P306fs NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA. 306 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) AGTGGGTCAGGCCCCCCCAGG 0.617 SLFN12 55106 broad.mit.edu 37 17 33749957 33749957 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:33749956_33749956AT>A uc002hji.4 - 1 469 c.92_92AT>T c.(91-93)atgfs p.M31fs SLFN12_uc002hjj.4_Frame_Shift_Del_p.M31fs|SLFN12_uc010cts.3_Frame_Shift_Del_p.M31fs NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN Homo sapiens schlafen family member 12 (SLFN12), mRNA. 31 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACAATCCTTCATTTTTTTCCT 0.423 EZH1 2145 broad.mit.edu 37 17 40874914 40874914 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:40874913_40874913CA>C uc010wgu.2 - 4 441 c.405_405TG>G c.(403-405)ttgfs p.L135fs EZH1_uc002iaz.3_Frame_Shift_Del_p.L129fs|EZH1_uc002iba.3_Frame_Shift_Del_p.L120fs|EZH1_uc010wgt.2_Frame_Shift_Del_p.L59fs|EZH1_uc010wgv.2_Frame_Shift_Del_p.L89fs|EZH1_uc010wgw.2_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Frame_Shift_Del_p.L46fs|EZH1_uc010cys.2_Frame_Shift_Del_p.L80fs|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank NM_001991 NP_001982 Q92800 EZH1_HUMAN Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA. 129 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|chromatin binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GAATATTGCACAAAACCGTCT 0.398 SP2 6668 broad.mit.edu 37 17 45993940 45993940 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:45993939_45993939AC>A uc002imk.3 + 2 639 c.502_502AC>A c.(502-504)accfs p.T168fs SP2_uc002iml.3_Frame_Shift_Del_p.T161fs|BC038442_uc002imm.3_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Homo sapiens Sp2 transcription factor (SP2), mRNA. 168 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 13 AGCCATCATCACCCCCTCACC 0.582 XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:48433966_48433966AC>A uc002iqo.3 + 7 1686 c.1577_1577AC>A c.(1576-1578)tacfs p.Y526fs XYLT2_uc010dbo.3_Non-coding_Transcript NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN Homo sapiens xylosyltransferase II (XYLT2), mRNA. 526 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TATGGCAGCTACCCCCCCGGC 0.602 ARHGDIA 396 broad.mit.edu 37 17 79826767 79826769 + In_Frame_Del DEL CTT CTT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr17:79826766_79826768CCTT>C uc021uff.1 - 5 905_907 c.599_601AAGG>G c.(598-603)aaggac>aGac p.200_201KD>R AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_In_Frame_Del_p.200_201KD>R|ARHGDIA_uc021ufg.1_In_Frame_Del_p.156_157KD>R|ARHGDIA_uc010dig.2_Non-coding_Transcript NM_001185077 NP_004300 P52565 GDIR1_HUMAN Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA. 200 Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCCTTCCAGTCCTTCTTGATGGT 0.640 MBD2 8932 broad.mit.edu 37 18 51731402 51731405 + Frame_Shift_Del DEL TGTT TGTT - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:51731401_51731404CTGTT>C uc002lfg.2 - 1 895_898 c.666_669AACAG>G c.(664-669)aaacagfs p.K222fs MBD2_uc002lfh.2_Frame_Shift_Del_p.K222fs NM_003927 NP_003918 Q9UBB5 MBD2_HUMAN Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA. 222 transcription, DNA-dependent C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188) Hexobarbital(DB01355) TTCGCAGTCTCTGTTTGTTCTTCT 0.387 WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr18:54358512_54358512CG>C uc002lgk.1 + 7 994 c.783_783CG>C c.(781-783)accfs p.T261fs WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA. 261 p.T261P(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) AGACATGGACCGGGGGGGACT 0.418 ZNF358 140467 broad.mit.edu 37 19 7584517 7584517 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:7584516_7584516AC>A uc002mgn.2 + 1 558 c.388_388AC>A c.(388-390)accfs p.T130fs ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN Homo sapiens zinc finger protein 358 (ZNF358), mRNA. 130 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CCTCACTGCCACCCCCCAGGT 0.697 NOTCH3 4854 broad.mit.edu 37 19 15290896 15290896 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:15290895_15290895GC>G uc002nan.3 - 19 3391 c.3315_3315GC>C c.(3313-3315)ggcfs p.G1105fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.G1053fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1105 EGF-like 28. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.G1104W(1) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CACACATGTAGCCCCCCATAT 0.642 DMKN 93099 broad.mit.edu 37 19 35989795 35989795 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:35989794_35989794TC>T uc002nzm.4 - 13 1548 c.1365_1365GA>A c.(1363-1365)ggafs p.G455fs DMKN_uc002nzi.4_Frame_Shift_Del_p.G69fs|DMKN_uc002nzj.3_Frame_Shift_Del_p.G143fs|DMKN_uc002nzl.4_Frame_Shift_Del_p.G168fs|DMKN_uc002nzk.4_Frame_Shift_Del_p.G116fs|DMKN_uc002nzo.4_Frame_Shift_Del_p.G444fs|DMKN_uc002nzn.4_Frame_Shift_Del_p.G428fs|DMKN_uc002nzu.2_Frame_Shift_Del_p.G116fs|DMKN_uc002nzv.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzw.2_Frame_Shift_Del_p.G125fs|DMKN_uc002nzq.2_Frame_Shift_Del_p.G131fs|DMKN_uc002nzp.2_Frame_Shift_Del_p.G149fs|DMKN_uc002nzr.2_Frame_Shift_Del_p.G111fs|DMKN_uc002nzs.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzt.2_Frame_Shift_Del_p.G102fs NM_033317 NP_201574 Q6E0U4 DMKN_HUMAN Homo sapiens dermokine (DMKN), transcript variant 2, mRNA. 455 extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AAGGTGAGACTCCCCCCTGCA 0.592 MLL2 8085 broad.mit.edu 37 19 36210764 36210765 + Frame_Shift_Ins INS - - C rs60207923 by1000genomes TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:36210763_36210764A>AC uc021usv.1 + 2 514_515 c.514_515A>AC c.(514-516)accfs p.T172fs MLL2_uc021usu.1_5'UTR NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 629 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TGTGGCTCCTACCCCCCCAAAG 0.634 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) ZNF701 55762 broad.mit.edu 37 19 53086002 53086002 + Frame_Shift_Del DEL A A - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:53086001_53086001TA>T uc010ydn.2 + 4 950 c.887_887TA>T c.(886-888)ttafs p.L296fs ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs NM_018260 NP_060730 Q9NV72 ZN701_HUMAN Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA. 230 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGCTCACTCTTAAAAAAACAT 0.388 OSCAR 126014 broad.mit.edu 37 19 54600445 54600445 + Frame_Shift_Del DEL G G - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr19:54600444_54600444TG>T uc002qdd.3 - 3 270 c.153_153CA>A c.(151-153)ccafs p.P51fs OSCAR_uc002qcy.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qcz.3_Frame_Shift_Del_p.P26fs|OSCAR_uc002qda.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qdb.3_Frame_Shift_Del_p.P15fs|OSCAR_uc010erc.3_5'UTR|OSCAR_uc002qdc.3_Frame_Shift_Del_p.P40fs|OSCAR_uc021vbh.1_5'Flank NM_206818 NP_996554 Q8IYS5 OSCAR_HUMAN Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA. 26 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GGTATGAAGCTGGGGGGACTG 0.602 EMILIN3 90187 broad.mit.edu 37 20 39990829 39990829 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:39990828_39990828AC>A uc002xjy.1 - 3 1605 c.1381_1381GT>T c.(1381-1383)tggfs p.W461fs NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 461 proteinaceous extracellular matrix p.W461fs*31(2) biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CCCACTCCCCACCCCCCCATG 0.642 COL20A1 57642 broad.mit.edu 37 20 61950424 61950424 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr20:61950423_61950423GC>G uc011aau.2 + 21 2777 c.2677_2677GC>G c.(2677-2679)gccfs p.A893fs COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 893 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CGTCTACCCAGCCCCCCTACC 0.647 SLC5A3 6526 broad.mit.edu 37 21 35467872 35467872 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:35467871_35467871AT>A uc021wir.1 + 0 374 c.374_374AT>A c.(373-375)tatfs p.Y125fs SLC5A3_uc002yto.3_Frame_Shift_Del_p.Y125fs|MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA. 125 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 ATTCAGGTCTATTTTGCAGCC 0.453 ZNF295 49854 broad.mit.edu 37 21 43412134 43412134 + Frame_Shift_Del DEL T T - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr21:43412133_43412133AT>A uc021wjo.1 - 0 2072 c.2072_2072AT>T c.(2071-2073)atgfs p.M691fs ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.M691fs NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 691 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 TCCTGGATGCATTTTTATATG 0.418 SREBF2 6721 broad.mit.edu 37 22 42289201 42289201 + Frame_Shift_Del DEL C C - TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:42289200_42289200AC>A uc003bbi.3 + 11 2457 c.2288_2288AC>A c.(2287-2289)cacfs p.H763fs bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 763 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TGGCTCTGCCACCCCCTGGGC 0.597 MOV10L1 54456 broad.mit.edu 37 22 50553620 50553621 + Frame_Shift_Ins INS - - G TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chr22:50553619_50553620T>TG uc003bjj.3 + 7 1286_1287 c.1203_1204T>TG c.(1201-1206)cctgggfs p.P401fs MOV10L1_uc003bjk.4_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.2_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_Non-coding_Transcript NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 401 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) AGCCTGAGCCTGGGGGGCTTGT 0.460 DMD 1756 broad.mit.edu 37 X 31196799 31196800 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:31196798_31196799T>TC uc004dda.1 - 69 10454_10455 c.10210_10211A>GA c.(10210-10212)gacfs p.D3404fs DMD_uc004dcq.1_Frame_Shift_Ins_p.D675fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dct.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.D2060fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.D2063fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.D3281fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.D3400fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.D3396fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.D336fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dco.1_Frame_Shift_Ins_p.D336fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.D336fs NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3404 Interaction with SYNM (By similarity). 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 NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 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) TTCCATGTTGTCCCCCTCTAAG 0.446 IRS4 8471 broad.mit.edu 37 X 107977803 107977804 + Frame_Shift_Ins INS - - C TCGA-CD-A4MI-01A-21D-A25D-08 TCGA-CD-A4MI-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ae40034-9f70-4e54-9cb6-9cc245d004fa 09571074-d3af-4948-af81-67e8e6a02f50 g.chrX:107977802_107977803G>GC uc004eoc.2 - 0 1805_1806 c.1772_1773C>GC c.(1771-1773)ggcfs p.G591fs NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 591 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGCCTTTGCCCCCCCCAGA 0.545