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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter TAS1R2 80834 broad.mit.edu 37 1 19168341 19168341 + Silent SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:19168341A>T uc001bba.1 - 5 1474 c.1473T>A c.(1471-1473)CCT>CCA p.P491P NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 491 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACATGGACATAGGGATCTGGA 0.592 14 103 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27094437 27094437 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:27094437C>G uc001bmv.1 + 11 3518 c.3145C>G c.(3145-3147)CTG>GTG p.L1049V ARID1A_uc001bmt.1_Missense_Mutation_p.L1049V|ARID1A_uc001bmu.1_Missense_Mutation_p.L1049V|ARID1A_uc001bmw.1_Missense_Mutation_p.L666V NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1049 ARID. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TAGGAAACCTCTGGACCTCTA 0.547 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 6 175 --- --- --- --- PASS SYTL1 84958 broad.mit.edu 37 1 27675619 27675619 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:27675619G>C uc001bnw.1 + 6 675 c.508G>C c.(508-510)GAG>CAG p.E170Q SYTL1_uc001bnv.1_Missense_Mutation_p.E158Q|SYTL1_uc009vsu.1_Missense_Mutation_p.E158Q|SYTL1_uc001bnx.2_Missense_Mutation_p.E170Q|SYTL1_uc009vsv.1_Missense_Mutation_p.E170Q NM_032872 NP_116261 Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 170 exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding ovary(1) 1 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TTCAGATCCTGAGGAGGCGTC 0.617 6 97 --- --- --- --- PASS AHDC1 27245 broad.mit.edu 37 1 27877043 27877043 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:27877043C>G uc009vsy.2 - 6 2553 c.1584G>C c.(1582-1584)CGG>CGC p.R528R AHDC1_uc009vsz.1_Silent_p.R528R NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 528 DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CTACCACGTTCCGCCCATTGT 0.622 5 78 --- --- --- --- PASS EYA3 2140 broad.mit.edu 37 1 28343723 28343723 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:28343723G>C uc001bpi.1 - 8 692 c.527C>G c.(526-528)TCT>TGT p.S176C EYA3_uc010ofs.1_Missense_Mutation_p.S123C|EYA3_uc010oft.1_Missense_Mutation_p.S130C|EYA3_uc001bpj.2_Missense_Mutation_p.S130C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA NM_001990 NP_001981 Q99504 EYA3_HUMAN eyes absent 3 176 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity ovary(2)|skin(1) 3 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) AGAAGAAGTAGATATCAGGCT 0.378 5 221 --- --- --- --- PASS HMGB4 127540 broad.mit.edu 37 1 34329862 34329862 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:34329862A>G uc001bxp.2 + 2 1813 c.70A>G c.(70-72)AGA>GGA p.R24G CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Splice_Site NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 24 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GCTGAATTACAGAAACAAATT 0.378 10 112 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36226162 36226162 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:36226162G>A uc001bzi.2 - 8 1440 c.1360C>T c.(1360-1362)CAT>TAT p.H454Y CLSPN_uc009vux.2_Missense_Mutation_p.H454Y NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 454 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCCAGGGCATGAGGTTCAAAT 0.502 5 177 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39851507 39851507 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:39851507C>G uc010oiu.1 + 21 9701 c.9570C>G c.(9568-9570)CTC>CTG p.L3190L MACF1_uc010ois.1_Silent_p.L2688L|MACF1_uc001cda.1_Silent_p.L2575L|MACF1_uc001cdc.1_Silent_p.L1754L NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4755 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) GCGATGAACTCTCAGTGCTCA 0.488 3 134 --- --- --- --- PASS SMAP2 64744 broad.mit.edu 37 1 40881009 40881009 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:40881009C>G uc001cfj.2 + 7 702 c.637C>G c.(637-639)CTG>GTG p.L213V SMAP2_uc010ojh.1_Missense_Mutation_p.L213V|SMAP2_uc001cfk.2_Missense_Mutation_p.L183V|SMAP2_uc010oji.1_Missense_Mutation_p.L130V|SMAP2_uc010ojj.1_Missense_Mutation_p.L29V NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 213 Interaction with clathrin heavy chains (By similarity). 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) GGATTTAGATCTGTTGGCCTC 0.453 18 349 --- --- --- --- PASS CYP4A22 284541 broad.mit.edu 37 1 47610264 47610264 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:47610264G>C uc001cqv.1 + 8 991 c.940G>C c.(940-942)GAG>CAG p.E314Q CYP4A22_uc009vyo.2_Missense_Mutation_p.E314Q|CYP4A22_uc009vyp.2_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 314 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 CCTCCGTGCTGAGGTGGACAC 0.552 4 172 --- --- --- --- PASS SLC44A5 204962 broad.mit.edu 37 1 75716933 75716933 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:75716933G>A uc001dgu.2 - 7 451 c.307C>T c.(307-309)CCC>TCC p.P103S SLC44A5_uc001dgt.2_Missense_Mutation_p.P103S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P61S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P61S|SLC44A5_uc010oqz.1_Missense_Mutation_p.P142S|SLC44A5_uc010ora.1_Missense_Mutation_p.P97S|SLC44A5_uc010orb.1_5'UTR NM_152697 NP_689910 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 isoform A 103 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity ovary(2)|skin(2) 4 AACACGGAGGGACTGGTACAG 0.408 5 109 --- --- --- --- PASS ST6GALNAC3 256435 broad.mit.edu 37 1 76779647 76779647 + Missense_Mutation SNP G T T rs142835503 TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:76779647G>T uc001dhh.2 + 2 339 c.176G>T c.(175-177)CGA>CTA p.R59L ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.R59L|ST6GALNAC3_uc010orh.1_Intron NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 59 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 CGGCCCCTTCGAACTCACTAT 0.433 6 98 --- --- --- --- PASS BCAR3 8412 broad.mit.edu 37 1 94049605 94049605 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:94049605C>G uc001dpz.2 - 6 1278 c.1003G>C c.(1003-1005)GCC>CCC p.A335P BCAR3_uc001dqa.2_Missense_Mutation_p.A335P|BCAR3_uc001dqb.2_Missense_Mutation_p.A335P|BCAR3_uc001dpx.3_Missense_Mutation_p.A11P|BCAR3_uc001dpy.2_Missense_Mutation_p.A244P|BCAR3_uc009wdm.1_Missense_Mutation_p.A11P NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 335 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GACTGGTGGGCTTTGAGGGAC 0.512 5 81 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100368264 100368264 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:100368264A>G uc001dsi.1 + 27 4014 c.3614A>G c.(3613-3615)CAG>CGG p.Q1205R AGL_uc001dsj.1_Missense_Mutation_p.Q1205R|AGL_uc001dsk.1_Missense_Mutation_p.Q1205R|AGL_uc001dsl.1_Missense_Mutation_p.Q1205R|AGL_uc001dsm.1_Missense_Mutation_p.Q1189R|AGL_uc001dsn.1_Missense_Mutation_p.Q1188R NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 1205 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GAAGTCATACAGGAAGCAATG 0.408 4 107 --- --- --- --- PASS CD58 965 broad.mit.edu 37 1 117087219 117087219 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:117087219G>A uc001egm.2 - 2 199 c.78C>T c.(76-78)ATC>ATT p.I26I CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.I26I|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Silent_p.I26I NM_001779 NP_001770 P19256 LFA3_HUMAN CD58 molecule isoform 1 26 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding 0 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) AAAAACAGCTGATGAAACCTA 0.348 5 25 --- --- --- --- PASS TRIM45 80263 broad.mit.edu 37 1 117660749 117660749 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:117660749G>C uc001egz.2 - 2 1717 c.1129C>G c.(1129-1131)CAG>GAG p.Q377E TRIM45_uc009whe.2_Missense_Mutation_p.Q377E|TRIM45_uc001eha.2_Missense_Mutation_p.Q273E NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 377 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GCTTTCTCCTGAGGACAGAAG 0.468 4 189 --- --- --- --- PASS PPIAL4G 644591 broad.mit.edu 37 1 143767819 143767819 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:143767819G>A uc001ejt.2 - 1 63 c.30C>T c.(28-30)ATC>ATT p.I10I NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 10 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity 0 CGTCGACGGTGATGTCAAAAA 0.443 6 284 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144952297 144952297 + Nonsense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:144952297G>C uc001elw.3 - 4 713 c.422C>G c.(421-423)TCA>TGA p.S141* NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.S207*|PDE4DIP_uc001emc.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emd.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emg.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emh.2_Nonsense_Mutation_p.S278* NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 141 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAGTTTCTCTGAGAGCTCCAG 0.522 T PDGFRB MPD 3 109 --- --- --- --- PASS VPS45 11311 broad.mit.edu 37 1 150048382 150048382 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:150048382G>C uc001etp.2 + 4 934 c.361G>C c.(361-363)GAG>CAG p.E121Q VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E85Q|VPS45_uc010pbs.1_Missense_Mutation_p.E85Q|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Missense_Mutation_p.E121Q|VPS45_uc010pbr.1_Missense_Mutation_p.E85Q NM_007259 NP_009190 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45A 121 blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis endosome membrane|Golgi membrane|integral to membrane of membrane fraction central_nervous_system(1)|skin(1) 2 Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGTTGTGGCTGAGGTTCAGGT 0.388 6 152 --- --- --- --- PASS CDC42SE1 56882 broad.mit.edu 37 1 151026774 151026774 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:151026774C>G uc001ewo.2 - 5 759 c.189G>C c.(187-189)ATG>ATC p.M63I CDC42SE1_uc001ewp.2_Missense_Mutation_p.M63I NM_001038707 NP_001033796 Q9NRR8 C42S1_HUMAN CDC42 small effector 1 63 phagocytosis|regulation of cell shape|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase inhibitor activity 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|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;0.211) CCTTGGATCTCATCTGCTCCT 0.448 9 294 --- --- --- --- PASS SEMA6C 10500 broad.mit.edu 37 1 151108092 151108092 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:151108092C>G uc001ewu.2 - 14 1708 c.1408G>C c.(1408-1410)GAG>CAG p.E470Q SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 470 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 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;0.211) GCATCAATCTCTTCCAGGAGG 0.602 4 180 --- --- --- --- PASS PIP5K1A 8394 broad.mit.edu 37 1 151196730 151196730 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:151196730G>T uc001exj.2 + 2 547 c.95G>T c.(94-96)GGA>GTA p.G32V PIP5K1A_uc001exi.2_Missense_Mutation_p.G31V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.G32V|PIP5K1A_uc001exk.2_Missense_Mutation_p.G31V NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 32 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) GCAGCATCTGGAATCAAGAGA 0.383 8 186 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281874 152281874 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:152281874C>G uc001ezu.1 - 3 5524 c.5488G>C c.(5488-5490)GAG>CAG p.E1830Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1830 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGATTGCTCATAGTGGGAT 0.582 Ichthyosis 7 802 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152329650 152329650 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:152329650C>T uc001ezw.3 - 3 685 c.612G>A c.(610-612)CTG>CTA p.L204L uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 204 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTTTCTCTCAGTTCTACAG 0.468 11 358 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154542077 154542077 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:154542077C>T uc001ffg.2 + 2 468 c.204C>T c.(202-204)ATC>ATT p.I68I NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 68 Extracellular (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CCCAGCTCATCAGTGTGGTGA 0.542 7 63 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154794573 154794573 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:154794573C>T uc001ffp.2 - 2 1335 c.1021G>A c.(1021-1023)GAA>AAA p.E341K KCNN3_uc001ffo.2_Missense_Mutation_p.E36K|KCNN3_uc009wox.1_Missense_Mutation_p.E341K NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 346 integral to membrane calmodulin binding lung(1) 1 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ACCTGGACTTCACGTGTGTGG 0.562 3 70 --- --- --- --- PASS CCT3 7203 broad.mit.edu 37 1 156304662 156304662 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:156304662C>T uc001fol.1 - 3 361 c.141G>A c.(139-141)ATG>ATA p.M47I CCT3_uc001fom.1_Missense_Mutation_p.M47I|CCT3_uc001fon.1_Intron|CCT3_uc010phj.1_Missense_Mutation_p.M1I|CCT3_uc010phk.1_Missense_Mutation_p.M1I|CCT3_uc010phl.1_Missense_Mutation_p.M1I|C1orf182_uc001foo.2_5'Flank NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 47 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) AGCCTACCTTCATCATGGACT 0.373 4 138 --- --- --- --- PASS OR6N2 81442 broad.mit.edu 37 1 158747222 158747222 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:158747222G>A uc010pir.1 - 1 204 c.204C>T c.(202-204)TTC>TTT p.F68F NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) ACAACTCCAAGAAGGAAAGAA 0.443 12 233 --- --- --- --- PASS FCGR2A 2212 broad.mit.edu 37 1 161487879 161487879 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:161487879G>A uc001gan.2 + 7 948 c.895G>A c.(895-897)GAT>AAT p.D299N FCGR2A_uc001gam.2_Missense_Mutation_p.D298N|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 299 Cytoplasmic (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) ACCTACTGACGATGATAAAAA 0.383 4 148 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250629 177250629 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:177250629C>G uc001glf.2 + 8 2629 c.2317C>G c.(2317-2319)CCT>GCT p.P773A FAM5B_uc001glg.2_Missense_Mutation_p.P668A NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 773 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GCTGCCAAACCCTGTGGAATA 0.532 5 150 --- --- --- --- PASS GLUL 2752 broad.mit.edu 37 1 182353797 182353797 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:182353797C>G uc001gpa.1 - 7 1077 c.865G>C c.(865-867)GAT>CAT p.D289H GLUL_uc010pnt.1_Missense_Mutation_p.D76H|GLUL_uc001gpb.1_Missense_Mutation_p.D289H|GLUL_uc001gpc.1_Missense_Mutation_p.D289H|GLUL_uc001gpd.1_Missense_Mutation_p.D289H NM_001033056 NP_001028228 P15104 GLNA_HUMAN glutamine synthetase 289 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding 0 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) CCCTTGGGATCATAGGCACGG 0.512 4 148 --- --- --- --- PASS RNASEL 6041 broad.mit.edu 37 1 182551334 182551334 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:182551334C>G uc001gpj.1 - 3 1793 c.1626G>C c.(1624-1626)CTG>CTC p.L542L RNASEL_uc009wxz.1_Silent_p.L542L|RNASEL_uc001gpk.2_Silent_p.L542L|RNASEL_uc009wya.1_3'UTR NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 542 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 TTTGAGCTTTCAGATCCTCAA 0.368 Hereditary_Prostate_Cancer 7 248 --- --- --- --- PASS LGR6 59352 broad.mit.edu 37 1 202288069 202288069 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:202288069C>G uc001gxu.2 + 18 2638 c.2638C>G c.(2638-2640)CTG>GTG p.L880V LGR6_uc001gxv.2_Missense_Mutation_p.L828V|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.L741V NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 880 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 GGATCTCATTCTGGAAGCTTC 0.632 3 130 --- --- --- --- PASS C1orf116 79098 broad.mit.edu 37 1 207196391 207196391 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:207196391C>G uc001hfd.2 - 4 977 c.718G>C c.(718-720)GAG>CAG p.E240Q C1orf116_uc009xcb.1_5'UTR NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 240 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) GGAGTCTGCTCTCTTTCCTGG 0.602 10 292 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207644397 207644397 + Missense_Mutation SNP T G G rs147378770 byFrequency TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:207644397T>G uc001hfw.2 + 8 1552 c.1458T>G c.(1456-1458)TTT>TTG p.F486L CR2_uc001hfv.2_Missense_Mutation_p.F486L|CR2_uc009xch.2_Missense_Mutation_p.F486L|CR2_uc009xci.1_5'UTR NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 486 Sushi 8.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 AGCACCAATTTGTTAGACCAG 0.453 6 158 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215847680 215847680 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:215847680C>G uc001hku.1 - 63 13960 c.13573G>C c.(13573-13575)GAT>CAT p.D4525H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4525 Fibronectin type-III 30.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGGTTCGATCTTTGACAAGA 0.522 HNSCC(13;0.011) 5 152 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222828095 222828095 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:222828095C>T uc001hnl.2 + 18 4576 c.4567C>T c.(4567-4569)CTG>TTG p.L1523L MIA3_uc001hnm.2_Silent_p.L401L NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1523 Cytoplasmic (Potential).|Potential. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) AGTGGAGATTCTGAATGAGCT 0.393 4 88 --- --- --- --- PASS DISC1 27185 broad.mit.edu 37 1 231830302 231830302 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:231830302C>T uc001huz.2 + 2 851 c.798C>T c.(796-798)TTC>TTT p.F266F TSNAX-DISC1_uc010pwe.1_Silent_p.F221F|TSNAX-DISC1_uc010pwf.1_Silent_p.F221F|TSNAX-DISC1_uc010pwg.1_Silent_p.F255F|TSNAX-DISC1_uc010pwh.1_Silent_p.F221F|TSNAX-DISC1_uc010pwi.1_Silent_p.F221F|TSNAX-DISC1_uc010pwj.1_Silent_p.F255F|TSNAX-DISC1_uc010pwk.1_Silent_p.F255F|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Silent_p.F266F|DISC1_uc010pwp.1_Silent_p.F266F|DISC1_uc010pwq.1_Silent_p.F266F|DISC1_uc010pwr.1_Silent_p.F266F|DISC1_uc010pws.1_Silent_p.F266F|DISC1_uc010pwt.1_Silent_p.F266F|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.F266F|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.F266F|DISC1_uc010pxb.1_Silent_p.F266F|DISC1_uc010pxc.1_Silent_p.F266F|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.F266F|DISC1_uc009xfr.2_Silent_p.F221F|DISC1_uc010pxf.1_Silent_p.F266F|DISC1_uc010pxg.1_Silent_p.F266F|DISC1_uc010pxh.1_Silent_p.F266F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.F266F|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.F266F|DISC1_uc010pwm.1_Silent_p.F266F|DISC1_uc001hux.1_Silent_p.F266F|DISC1_uc001hvc.3_Silent_p.F266F|DISC1_uc010pwn.1_Silent_p.F266F NM_018662 NP_061132 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 isoform L 266 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding skin(1) 1 all_cancers(173;0.0208)|Prostate(94;0.0975) CTCGGCCCTTCAGTCTCTTGG 0.617 4 74 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237886440 237886440 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:237886440G>A uc001hyl.1 + 74 10687 c.10567G>A c.(10567-10569)GCT>ACT p.A3523T RYR2_uc010pxz.1_Missense_Mutation_p.A478T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3523 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) GGAGGATCCTGCTATTAGATG 0.393 53 200 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248263470 248263470 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr1:248263470C>T uc001ids.2 + 3 1130 c.793C>T c.(793-795)CGC>TGC p.R265C NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CAGGAATCTCCGCTCACCAGC 0.473 38 107 --- --- --- --- PASS TAF1B 9014 broad.mit.edu 37 2 10050867 10050867 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:10050867G>A uc002qzz.2 + 10 1058 c.958G>A c.(958-960)GAA>AAA p.E320K TAF1B_uc010exc.2_Missense_Mutation_p.E320K|TAF1B_uc002qzy.3_Missense_Mutation_p.E320K|TAF1B_uc010yja.1_Missense_Mutation_p.E65K|TAF1B_uc010exd.2_Missense_Mutation_p.E65K NM_005680 NP_005671 Q53T94 TAF1B_HUMAN TBP-associated factor 1B 320 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1)|pancreas(1) 3 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TTCTTCAGATGAAATGCATAG 0.328 5 64 --- --- --- --- PASS NT5C1B 93034 broad.mit.edu 37 2 18768395 18768395 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:18768395G>C uc002rcz.2 - 3 269 c.165C>G c.(163-165)CCC>CCG p.P55P NT5C1B_uc002rcy.2_Silent_p.P55P|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Silent_p.P55P|NT5C1B_uc010yjw.1_Intron|NT5C1B_uc010exs.2_Silent_p.P55P|NT5C1B_uc002rdb.1_5'Flank NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 55 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GACCCTGGAAGGGGCAACATC 0.547 5 29 --- --- --- --- PASS DPYSL5 56896 broad.mit.edu 37 2 27167566 27167566 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:27167566G>T uc002rhu.3 + 12 1641 c.1483G>T c.(1483-1485)GAT>TAT p.D495Y DPYSL5_uc002rhv.3_Missense_Mutation_p.D495Y NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 495 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACCTGGGGGATGTCGCTGT 0.567 23 78 --- --- --- --- PASS C2orf16 84226 broad.mit.edu 37 2 27801100 27801100 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:27801100A>G uc002rkz.3 + 1 1712 c.1661A>G c.(1660-1662)CAC>CGC p.H554R NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 554 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCTTCAGAGCACCACACAGGG 0.393 4 74 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29416544 29416544 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:29416544G>A uc002rmy.2 - 29 5316 c.4409C>T c.(4408-4410)GCC>GTC p.A1470V ALK_uc010ymo.1_Missense_Mutation_p.A402V NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1470 Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.V1471fs*45(1) NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCCTTCCACGGCCGGCCCTCT 0.592 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 4 145 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37268374 37268374 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:37268374G>A uc002rpp.1 - 19 2854 c.2758C>T c.(2758-2760)CAT>TAT p.H920Y NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 920 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) ACATAACGATGCAAACAACCA 0.433 4 82 --- --- --- --- PASS HNRPLL 92906 broad.mit.edu 37 2 38809072 38809072 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:38809072G>T uc002rqw.2 - 6 1195 c.785C>A c.(784-786)CCA>CAA p.P262Q HNRPLL_uc002rqv.2_5'UTR|HNRPLL_uc002rqx.2_Missense_Mutation_p.P257Q NM_138394 NP_612403 Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like 262 mRNA processing|positive regulation of RNA splicing nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding skin(1) 1 all_hematologic(82;0.248) TCCCAAATATGGTTTAGTGTA 0.328 3 68 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61441575 61441575 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:61441575C>G uc002sbe.2 - 68 8324 c.8302G>C c.(8302-8304)GAG>CAG p.E2768Q NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2768 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ATCAGCTTCTCAGTTTTGGAA 0.383 14 54 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69046260 69046260 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:69046260C>A uc002seu.2 + 9 1370 c.1006C>A c.(1006-1008)CCT>ACT p.P336T ARHGAP25_uc010fdg.2_Missense_Mutation_p.P337T|ARHGAP25_uc010yql.1_Missense_Mutation_p.P297T|ARHGAP25_uc002sev.2_Missense_Mutation_p.P330T|ARHGAP25_uc002sew.2_Missense_Mutation_p.P329T|ARHGAP25_uc002sex.2_Missense_Mutation_p.P330T|ARHGAP25_uc002sey.2_Missense_Mutation_p.P63T NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 336 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 TTCAGGGACTCCTCAGATCCA 0.493 19 314 --- --- --- --- PASS SMYD1 150572 broad.mit.edu 37 2 88407937 88407937 + Missense_Mutation SNP G C C rs146456865 byFrequency TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:88407937G>C uc002ssr.2 + 9 1195 c.1193G>C c.(1192-1194)CGG>CCG p.R398P SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R94P NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(2)|lung(1)|skin(1) 4 GCCGTGATGCGGGCAGGGCTG 0.542 4 68 --- --- --- --- PASS TUBA3E 112714 broad.mit.edu 37 2 130951855 130951855 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:130951855G>A uc002tqv.2 - 4 661 c.560C>T c.(559-561)TCC>TTC p.S187F NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 187 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) GGTTAGGATGGAGTTGTAGGG 0.532 21 201 --- --- --- --- PASS TNFAIP6 7130 broad.mit.edu 37 2 152214240 152214240 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:152214240C>T uc002txk.2 + 1 136 c.60C>T c.(58-60)TTC>TTT p.F20F NM_007115 NP_009046 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 20 cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding 0 BRCA - Breast invasive adenocarcinoma(221;0.131) GATGGGGATTCAAGGATGGAA 0.388 11 102 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160755255 160755255 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:160755255G>C uc002ubc.3 - 2 479 c.410C>G c.(409-411)TCT>TGT p.S137C LY75_uc002ubb.3_Missense_Mutation_p.S137C|LY75_uc010fos.2_Missense_Mutation_p.S137C|LY75_uc010fot.1_Missense_Mutation_p.S137C NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 137 Extracellular (Potential).|Ricin B-type lectin. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) CCAGACATCAGATGCATTTGA 0.517 6 125 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163393571 163393571 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:163393571G>A uc002uch.1 - 3 539 c.327C>T c.(325-327)AAC>AAT p.N109N KCNH7_uc002uci.2_Silent_p.N109N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 109 Cytoplasmic (Potential).|PAC. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTATGTGAGTGTTACAAATAA 0.333 5 66 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170089935 170089935 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:170089935G>A uc002ues.2 - 30 5297 c.5084C>T c.(5083-5085)TCG>TTG p.S1695L NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1695 LDL-receptor class B 14.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGGTTGTTTCGAAGGATGAAC 0.468 11 75 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098810 178098810 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:178098810C>G uc002ulh.3 - 2 790 c.235G>C c.(235-237)GAG>CAG p.E79Q NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 79 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCACCTGTCTCTTCATCTAGT 0.443 Mis NSCLC|HNSCC HNSCC(56;0.16) 10 90 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179438359 179438359 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:179438359C>G uc010zfg.1 - 275 65020 c.64796G>C c.(64795-64797)AGA>ACA p.R21599T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15294T|TTN_uc010zfi.1_Missense_Mutation_p.R15227T|TTN_uc010zfj.1_Missense_Mutation_p.R15102T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22526 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) CCATGCCAATCTGCTGGTTTC 0.413 7 458 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179486014 179486014 + Nonsense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:179486014G>C uc010zfg.1 - 195 37951 c.37727C>G c.(37726-37728)TCA>TGA p.S12576* TTN_uc010zfh.1_Nonsense_Mutation_p.S6271*|TTN_uc010zfi.1_Nonsense_Mutation_p.S6204*|TTN_uc010zfj.1_Nonsense_Mutation_p.S6079* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13503 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) GCTTTCTTTTGATATAGAGCA 0.383 4 47 --- --- --- --- PASS CASP8 841 broad.mit.edu 37 2 202149860 202149860 + Nonsense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:202149860C>G uc002uxr.1 + 9 1333 c.1124C>G c.(1123-1125)TCA>TGA p.S375* CASP8_uc002uxp.1_Nonsense_Mutation_p.S392*|CASP8_uc002uxq.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxt.1_Nonsense_Mutation_p.S434*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.S291* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 375 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 GAGACTGATTCAGAGGAGCAA 0.448 HNSCC(4;0.00038) 11 114 --- --- --- --- PASS RAPH1 65059 broad.mit.edu 37 2 204305815 204305815 + Nonsense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:204305815G>A uc002vad.2 - 14 2323 c.2098C>T c.(2098-2100)CAG>TAG p.Q700* NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Ras association and pleckstrin homology domains 700 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 ACCAGGATCTGAGGCTTCACT 0.463 11 58 --- --- --- --- PASS PLEKHM3 389072 broad.mit.edu 37 2 208841936 208841936 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:208841936G>A uc002vcl.2 - 3 1475 c.985C>T c.(985-987)CAT>TAT p.H329Y PLEKHM3_uc002vcm.2_Missense_Mutation_p.H329Y NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 329 intracellular signal transduction metal ion binding ovary(1) 1 TCATCATGATGGCCAAGCCCT 0.527 11 115 --- --- --- --- PASS TNS1 7145 broad.mit.edu 37 2 218713332 218713332 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr2:218713332G>C uc002vgt.2 - 17 1931 c.1533C>G c.(1531-1533)CAC>CAG p.H511Q TNS1_uc002vgr.2_Missense_Mutation_p.H511Q|TNS1_uc002vgs.2_Missense_Mutation_p.H511Q|TNS1_uc010zjv.1_Missense_Mutation_p.H511Q|TNS1_uc010fvj.1_Missense_Mutation_p.H579Q|TNS1_uc010fvk.1_Missense_Mutation_p.H636Q|TNS1_uc010fvi.1_Missense_Mutation_p.H198Q NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 511 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) TGCCCGCACTGTGACCATCCT 0.607 22 79 --- --- --- --- PASS TMPPE 643853 broad.mit.edu 37 3 33134446 33134446 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:33134446G>C uc003cfk.2 - 2 1433 c.1242C>G c.(1240-1242)CTC>CTG p.L414L GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.L277L NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 414 integral to membrane metal ion binding 0 CCACCTGGTAGAGACCAGCAA 0.552 3 52 --- --- --- --- PASS TGM4 7047 broad.mit.edu 37 3 44945440 44945440 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:44945440T>C uc003coc.3 + 9 1109 c.1036T>C c.(1036-1038)TGG>CGG p.W346R NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 346 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CTACGACGGCTGGCAGGCTGT 0.642 12 125 --- --- --- --- PASS CDCP1 64866 broad.mit.edu 37 3 45152242 45152242 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:45152242G>A uc003com.2 - 4 882 c.747C>T c.(745-747)CTC>CTT p.L249L CDCP1_uc003con.2_Silent_p.L249L NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 249 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GCCACGTCATGAGCTCATCCT 0.552 13 190 --- --- --- --- PASS TMIE 259236 broad.mit.edu 37 3 46750623 46750623 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:46750623G>A uc010hjk.1 + 3 374 c.219G>A c.(217-219)ACG>ACA p.T73T TMIE_uc010hjj.1_Missense_Mutation_p.A113T NM_147196 NP_671729 Q8NEW7 TMIE_HUMAN transmembrane inner ear protein precursor 73 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CAGTCATCACGCTGTGCTGTG 0.612 4 62 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48602858 48602858 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:48602858G>A uc003ctz.2 - 115 8513 c.8512C>T c.(8512-8514)CAT>TAT p.H2838Y UCN2_uc003cty.1_5'Flank NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2838 Nonhelical region (NC2). 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) TCCTCTGCATGAGAGACGCGG 0.642 4 17 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51392382 51392382 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:51392382G>C uc011bds.1 + 41 4200 c.4177G>C c.(4177-4179)GAG>CAG p.E1393Q NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1393 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) GATGCTCAGTGAGTTTCCGCA 0.552 6 121 --- --- --- --- PASS STX19 415117 broad.mit.edu 37 3 93733279 93733279 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:93733279G>T uc003drh.1 - 2 1092 c.835C>A c.(835-837)CCT>ACT p.P279T ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 279 intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 ACTCTGCAAGGATTTCTTTTT 0.318 6 45 --- --- --- --- PASS CD96 10225 broad.mit.edu 37 3 111356973 111356973 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:111356973A>T uc003dxw.2 + 13 1653 c.1483A>T c.(1483-1485)ACT>TCT p.T495S CD96_uc003dxx.2_Missense_Mutation_p.T479S|CD96_uc010hpy.1_Missense_Mutation_p.T478S NM_198196 NP_937839 P40200 TACT_HUMAN CD96 antigen isoform 1 precursor 495 Extracellular (Potential).|Pro/Ser/Thr-rich. cell adhesion|immune response|regulation of immune response integral to plasma membrane skin(2)|central_nervous_system(1) 3 AGTCCCCACAACTGCCAATGG 0.368 Opitz_Trigonocephaly_syndrome 4 118 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113847632 113847632 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:113847632G>A uc003ebd.2 - 8 1557 c.1134C>T c.(1132-1134)CTC>CTT p.L378L DRD3_uc010hqn.1_Silent_p.L378L|DRD3_uc003ebb.1_Silent_p.L345L|DRD3_uc003ebc.1_Silent_p.L378L NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 378 Helical; Name=7. 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) TCACAGGGTTGAGGGCGCTAT 0.522 11 449 --- --- --- --- PASS CD86 942 broad.mit.edu 37 3 121822377 121822377 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:121822377T>C uc003eet.2 + 3 199 c.83T>C c.(82-84)ATT>ACT p.I28T CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.I22T NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 28 Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) CCTCTGAAGATTCAAGCTTAT 0.423 9 88 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124053267 124053267 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:124053267G>C uc003ehg.2 + 9 1693 c.1566G>C c.(1564-1566)GAG>GAC p.E522D KALRN_uc010hrv.1_Missense_Mutation_p.E522D|KALRN_uc003ehf.1_Missense_Mutation_p.E522D|KALRN_uc011bjy.1_Missense_Mutation_p.E522D NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 522 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GACGGCTGGAGAGCATCTGGC 0.622 4 85 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130285672 130285672 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:130285672C>T uc010htl.2 + 4 1440 c.1409C>T c.(1408-1410)CCC>CTC p.P470L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 470 VWFA 3.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AACATTGCTCCCCATAAGGTG 0.488 17 184 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130300468 130300468 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:130300468T>C uc010htl.2 + 8 3642 c.3611T>C c.(3610-3612)CTT>CCT p.L1204P COL6A6_uc003eni.3_5'Flank NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1204 VWFA 7.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CAGACTTTGCTTGAAGGTCAG 0.463 14 170 --- --- --- --- PASS AMOTL2 51421 broad.mit.edu 37 3 134084662 134084662 + Nonsense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:134084662G>A uc003eqf.2 - 5 1567 c.1450C>T c.(1450-1452)CAG>TAG p.Q484* AMOTL2_uc003eqg.1_Nonsense_Mutation_p.Q426*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.Q426*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.Q51* NM_016201 NP_057285 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 426 Potential. large_intestine(1) 1 TACTCACTCTGAGCAAGCAGC 0.582 10 117 --- --- --- --- PASS SR140 23350 broad.mit.edu 37 3 142741417 142741417 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:142741417G>A uc003evh.1 + 11 1030 c.931G>A c.(931-933)GAT>AAT p.D311N SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.D311N|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.D310N NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 311 RRM. RNA processing nucleus nucleotide binding|RNA binding 0 GCCTAGAACTGATGAAGAAAG 0.363 4 154 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151131013 151131013 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:151131013C>G uc003eyp.2 + 40 6160 c.6122C>G c.(6121-6123)TCC>TGC p.S2041C MED12L_uc011bnz.1_Intron NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 2041 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AACCTTCCCTCCGTGCCCCTG 0.582 6 105 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154884713 154884713 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:154884713G>T uc010hvr.1 + 18 1894 c.1683G>T c.(1681-1683)CAG>CAT p.Q561H MME_uc003fab.1_Missense_Mutation_p.Q561H|MME_uc003fac.1_Missense_Mutation_p.Q561H|MME_uc003fad.1_Missense_Mutation_p.Q561H|MME_uc003fae.1_Missense_Mutation_p.Q561H NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 561 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GCATTCTGCAGCCCCCCTTCT 0.428 11 93 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169815104 169815104 + Nonsense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:169815104C>A uc010hws.1 - 15 2930 c.2866G>T c.(2866-2868)GAA>TAA p.E956* PHC3_uc003fgl.2_Nonsense_Mutation_p.E968* NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 956 SAM. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGATGGTCTTCTTTCAGCAAG 0.468 8 325 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170198250 170198250 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:170198250C>T uc003fgz.2 - 7 2137 c.1821G>A c.(1819-1821)CTG>CTA p.L607L CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 607 Helical; (Potential). 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) GGGTGCTGATCAGCAGCACCA 0.542 7 139 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183439723 183439723 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:183439723C>G uc003fly.2 + 5 531 c.336C>G c.(334-336)ATC>ATG p.I112M NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 112 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ATCCTGCTATCAAGAAATTTT 0.358 8 268 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183905220 183905220 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:183905220G>A uc003fmz.2 + 4 470 c.337G>A c.(337-339)GAA>AAA p.E113K ABCF3_uc003fna.2_Missense_Mutation_p.E107K|ABCF3_uc003fnb.2_5'Flank NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 113 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTAAAGAGGGAACAGTCCTC 0.463 51 109 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183905691 183905691 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:183905691G>C uc003fmz.2 + 6 622 c.489G>C c.(487-489)AAG>AAC p.K163N ABCF3_uc003fna.2_Missense_Mutation_p.K157N|ABCF3_uc003fnb.2_5'Flank NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 163 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGCAGAAAGGAGAGTCGGT 0.488 86 135 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183906897 183906897 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:183906897G>A uc003fmz.2 + 10 1132 c.999G>A c.(997-999)AGG>AGA p.R333R ABCF3_uc003fna.2_Silent_p.R327R|ABCF3_uc003fnb.2_Silent_p.R14R NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 333 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GTGGCTGGAGGATGAGGCTGG 0.557 32 79 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183907652 183907652 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:183907652G>A uc003fmz.2 + 14 1457 c.1324G>A c.(1324-1326)GAC>AAC p.D442N ABCF3_uc003fna.2_Missense_Mutation_p.D436N|ABCF3_uc003fnb.2_Missense_Mutation_p.D123N NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 442 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGTTTTCATTGACCGGTTTCG 0.572 60 124 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193361385 193361385 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:193361385G>C uc003ftm.2 + 13 1515 c.1281G>C c.(1279-1281)CAG>CAC p.Q427H OPA1_uc003ftg.2_Missense_Mutation_p.Q482H|OPA1_uc003fth.2_Missense_Mutation_p.Q446H|OPA1_uc003fti.2_Missense_Mutation_p.Q464H|OPA1_uc003ftj.2_Missense_Mutation_p.Q445H|OPA1_uc003ftk.2_Missense_Mutation_p.Q428H|OPA1_uc003ftl.2_Missense_Mutation_p.Q409H|OPA1_uc003ftn.2_Missense_Mutation_p.Q391H NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 427 Mitochondrial intermembrane (By similarity). apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) CTTACATGCAGAATCCTAATG 0.323 3 62 --- --- --- --- PASS MUC20 200958 broad.mit.edu 37 3 195453355 195453355 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:195453355G>C uc010hzo.2 + 3 1494 c.1368G>C c.(1366-1368)AAG>AAC p.K456N MUC20_uc010hzp.2_Missense_Mutation_p.K421N|MUC20_uc011bte.1_RNA NM_152673 NP_689886 Q8N307 MUC20_HUMAN mucin 20 isoform L 627 Involved in oligomerization.|Thr-rich. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCTTAGCCAAGATCACAACCT 0.622 6 148 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196612242 196612242 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:196612242C>G uc003fwz.3 + 2 439 c.190C>G c.(190-192)CTT>GTT p.L64V SENP5_uc011bty.1_Missense_Mutation_p.L64V NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 64 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) AAAGAAAGCTCTTCAAATCCA 0.403 3 68 --- --- --- --- PASS LMLN 89782 broad.mit.edu 37 3 197712674 197712674 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr3:197712674C>T uc011buo.1 + 8 864 c.842C>T c.(841-843)TCT>TTT p.S281F LMLN_uc003fyt.2_Missense_Mutation_p.S229F|LMLN_uc010iar.2_Missense_Mutation_p.S281F|LMLN_uc010ias.2_Missense_Mutation_p.S229F|LMLN_uc003fyu.2_Missense_Mutation_p.S41F NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 281 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CAGGGTTTCTCTGCTGGGCTG 0.398 5 141 --- --- --- --- PASS FAM193A 8603 broad.mit.edu 37 4 2701692 2701692 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:2701692G>C uc010icl.2 + 17 3271 c.2920G>C c.(2920-2922)GAG>CAG p.E974Q FAM193A_uc010ick.2_Missense_Mutation_p.E1174Q|FAM193A_uc003gfd.2_Missense_Mutation_p.E974Q|FAM193A_uc011bvm.1_Missense_Mutation_p.E996Q|FAM193A_uc011bvn.1_Missense_Mutation_p.E974Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E828Q NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 974 ovary(3) 3 TGGCTCACTAGAGCAAACTGA 0.517 15 108 --- --- --- --- PASS HS3ST1 9957 broad.mit.edu 37 4 11401378 11401378 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:11401378C>T uc003gmq.2 - 2 575 c.252G>A c.(250-252)GAG>GAA p.E84E NM_005114 NP_005105 O14792 HS3S1_HUMAN heparan sulfate D-glucosaminyl 84 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity skin(1) 1 GGACCTCGTTCTCCGCGGCCG 0.657 11 69 --- --- --- --- PASS C1QTNF7 114905 broad.mit.edu 37 4 15444362 15444362 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:15444362G>C uc011bxb.1 + 3 1036 c.809G>C c.(808-810)GGG>GCG p.G270A C1QTNF7_uc003gno.2_Missense_Mutation_p.G277A|C1QTNF7_uc003gnp.2_Missense_Mutation_p.G270A NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 270 C1q. collagen 0 TTATTCTCCGGGTTTCTCTTA 0.443 5 118 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16510277 16510277 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:16510277T>C uc003goz.2 - 7 1088 c.772A>G c.(772-774)AGA>GGA p.R258G LDB2_uc003gpa.2_Missense_Mutation_p.R258G|LDB2_uc003gpb.2_Missense_Mutation_p.R258G|LDB2_uc011bxh.1_Missense_Mutation_p.R230G|LDB2_uc010iee.2_Missense_Mutation_p.R258G|LDB2_uc003goy.2_Missense_Mutation_p.R133G|LDB2_uc011bxi.1_Missense_Mutation_p.R134G NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 258 LIM domain binding|transcription cofactor activity 0 TTCCTTTTTCTCCGTTTGGTT 0.483 12 93 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20493390 20493390 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:20493390A>G uc003gpr.1 + 9 986 c.782A>G c.(781-783)CAG>CGG p.Q261R SLIT2_uc003gps.1_Missense_Mutation_p.Q261R NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 261 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 TTAGGTCACCAGTCATTTATG 0.393 4 130 --- --- --- --- PASS PCDH7 5099 broad.mit.edu 37 4 30725257 30725257 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:30725257A>G uc003gsk.1 + 1 3221 c.2213A>G c.(2212-2214)AAT>AGT p.N738S PCDH7_uc011bxw.1_Missense_Mutation_p.N691S|PCDH7_uc011bxx.1_Missense_Mutation_p.N738S NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 738 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GAAAATGACAATGCTCCCACA 0.473 6 104 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895496 42895496 + Missense_Mutation SNP T G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:42895496T>G uc003gwt.2 + 1 213 c.213T>G c.(211-213)GAT>GAG p.D71E NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 71 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CAGAAGGTGATGAGAATGAGA 0.468 18 182 --- --- --- --- PASS AFM 173 broad.mit.edu 37 4 74364940 74364940 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:74364940G>C uc003hhb.2 + 11 1430 c.1399G>C c.(1399-1401)GAG>CAG p.E467Q NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 467 Albumin 3. vitamin transport vitamin E binding ovary(2)|central_nervous_system(1) 3 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GCTAAGTGAAGAGTTTGCCTG 0.403 3 68 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79308543 79308543 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:79308543G>C uc003hlb.2 + 29 4103 c.3663G>C c.(3661-3663)CTG>CTC p.L1221L FRAS1_uc003hkw.2_Silent_p.L1221L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1220 CSPG 2.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CCTATGTGCTGAGAAATGAAG 0.473 3 85 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80328291 80328291 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:80328291G>A uc003hlu.2 - 1 1082 c.1064C>T c.(1063-1065)TCT>TTT p.S355F NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 355 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 ACAGCCATAAGAAGTTCCTAC 0.438 5 95 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85687027 85687027 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:85687027G>A uc003hpd.2 - 32 5532 c.5124C>T c.(5122-5124)CTC>CTT p.L1708L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 1708 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTCCACCACTGAGTCCTTCTT 0.403 4 94 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87655973 87655973 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:87655973C>A uc003hpz.2 + 14 2576 c.2096C>A c.(2095-2097)TCC>TAC p.S699Y PTPN13_uc003hpy.2_Missense_Mutation_p.S699Y|PTPN13_uc003hqa.2_Missense_Mutation_p.S699Y|PTPN13_uc003hqb.2_Missense_Mutation_p.S699Y NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 699 FERM. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) GATGAGACTTCCTTATTGCTG 0.408 7 223 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89574214 89574214 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:89574214G>A uc003hrw.1 + 6 824 c.658G>A c.(658-660)GGG>AGG p.G220R HERC3_uc003hrv.2_Missense_Mutation_p.G220R|HERC3_uc011cdn.1_Missense_Mutation_p.G102R NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 220 RCC1 5. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GAATAATGCCGGGCAGCTAGG 0.438 9 91 --- --- --- --- PASS HPGDS 27306 broad.mit.edu 37 4 95220778 95220778 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:95220778G>A uc003hte.1 - 6 544 c.453C>T c.(451-453)TTC>TTT p.F151F NM_014485 NP_055300 O60760 HPGDS_HUMAN prostaglandin D2 synthase, hematopoietic 151 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity ovary(1) 1 Glutathione(DB00143) TCTCCCAGTAGAAGTCTGCCC 0.388 10 57 --- --- --- --- PASS ADH4 127 broad.mit.edu 37 4 100057749 100057749 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:100057749A>T uc003hun.2 - 5 526 c.450T>A c.(448-450)AGT>AGA p.S150R uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.S169R NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 150 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GAGAGAATGTACTGGTTCCAA 0.388 13 79 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126336234 126336234 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:126336234T>C uc003ifj.3 + 5 6116 c.6116T>C c.(6115-6117)ATT>ACT p.I2039T FAT4_uc011cgp.1_Missense_Mutation_p.I337T NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2039 Cadherin 19.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAAGTCTCCATTATTTTGTTG 0.408 21 181 --- --- --- --- PASS UCP1 7350 broad.mit.edu 37 4 141489037 141489037 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:141489037A>T uc011chj.1 - 2 297 c.221T>A c.(220-222)CTC>CAC p.L74H UCP1_uc011chk.1_Missense_Mutation_p.L74H NM_021833 NP_068605 P25874 UCP1_HUMAN uncoupling protein 1 74 Solcar 1.|Helical; Name=2; (Potential). brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding ovary(1) 1 all_hematologic(180;0.162) CCCGCTGTAGAGTTTCATCCG 0.562 9 127 --- --- --- --- PASS FHDC1 85462 broad.mit.edu 37 4 153896413 153896413 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:153896413C>T uc003inf.2 + 11 2045 c.1970C>T c.(1969-1971)TCA>TTA p.S657L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 657 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) AGCCTGGGCTCAGCACAGTCC 0.637 4 55 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169305853 169305853 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:169305853C>G uc003irq.3 - 30 4247 c.4026G>C c.(4024-4026)CTG>CTC p.L1342L NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 1342 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) ACTGTCCTCTCAGCTCAGGAA 0.502 5 40 --- --- --- --- PASS DCTD 1635 broad.mit.edu 37 4 183812586 183812586 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:183812586G>A uc003ivf.2 - 6 677 c.503C>T c.(502-504)TCA>TTA p.S168L DCTD_uc003ivg.2_Missense_Mutation_p.S179L|DCTD_uc010irw.2_Missense_Mutation_p.S109L|DCTD_uc003ivh.2_Missense_Mutation_p.S109L NM_001921 NP_001912 P32321 DCTD_HUMAN dCMP deaminase isoform b 168 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding 0 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) GCTGTTAATTGAATCAAAGTC 0.348 5 208 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr4:187540391G>C uc003izf.2 - 10 7537 c.7349C>G c.(7348-7350)TCA>TGA p.S2450* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2450 Extracellular (Potential).|Cadherin 22. 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 GTGCAGGTTTGAGAGGGTGAT 0.433 HNSCC(5;0.00058) 24 214 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26886084 26886084 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:26886084C>T uc003jgs.1 - 10 1790 c.1621G>A c.(1621-1623)GAT>AAT p.D541N CDH9_uc011cnv.1_Missense_Mutation_p.D134N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 541 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CCTTTATTATCTACAATGGTG 0.303 6 195 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31464342 31464342 + Splice_Site SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:31464342C>A uc003jhg.2 - 19 2933 c.2574_splice c.e19+1 p.Q858_splice RNASEN_uc003jhh.2_Splice_Site_p.Q821_splice|RNASEN_uc003jhi.2_Splice_Site_p.Q821_splice NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AGTCTCCCCACCTGACAGACA 0.408 13 59 --- --- --- --- PASS SUB1 10923 broad.mit.edu 37 5 32599095 32599095 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:32599095G>A uc003jhs.2 + 4 352 c.224G>A c.(223-225)CGC>CAC p.R75H SUB1_uc003jht.2_RNA NM_006713 NP_006704 P53999 TCP4_HUMAN activated RNA polymerase II transcription 75 R->G: Reduced ssDNA binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus|transcription factor complex protein binding|single-stranded DNA binding|transcription coactivator activity 0 GTTAGTGTTCGCGATTTTAAA 0.353 7 86 --- --- --- --- PASS C9 735 broad.mit.edu 37 5 39306829 39306829 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:39306829A>T uc003jlv.3 - 9 1395 c.1306T>A c.(1306-1308)TAT>AAT p.Y436N NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 436 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCAAATGCATATTTTCTGGTT 0.403 30 113 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852847 40852847 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:40852847C>G uc003jmg.2 + 3 1488 c.1413C>G c.(1411-1413)CTC>CTG p.L471L NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 471 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CCAGAATCCTCAACACACTTC 0.453 15 125 --- --- --- --- PASS OTP 23440 broad.mit.edu 37 5 76932787 76932787 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:76932787C>T uc003kfg.2 - 2 454 c.306G>A c.(304-306)CAG>CAA p.Q102Q NM_032109 NP_115485 Q5XKR4 OTP_HUMAN orthopedia homeobox 102 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GCTTCTGCTTCTGTTGGCCCT 0.677 9 147 --- --- --- --- PASS TTC37 9652 broad.mit.edu 37 5 94852864 94852864 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:94852864G>C uc003klb.2 - 21 2547 c.2277C>G c.(2275-2277)CTC>CTG p.L759L NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 759 binding ovary(3)|pancreas(1) 4 CTCCAAGGTGGAGGAGCTCAT 0.358 5 52 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95759116 95759116 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:95759116C>G uc003kls.1 - 4 650 c.444G>C c.(442-444)GTG>GTC p.V148V NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 148 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAACAGGTATCACATGAAGGT 0.438 4 46 --- --- --- --- PASS MATR3 9782 broad.mit.edu 37 5 138654711 138654711 + Nonsense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:138654711A>T uc003ldu.2 + 11 1850 c.1423A>T c.(1423-1425)AAA>TAA p.K475* MATR3_uc010jfb.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K137*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K475*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K152*|MATR3_uc011czb.1_Nonsense_Mutation_p.K187*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K475*|MATR3_uc003lea.2_Nonsense_Mutation_p.K475*|MATR3_uc003leb.2_Nonsense_Mutation_p.K137*|MATR3_uc003lec.2_Nonsense_Mutation_p.K152* NM_199189 NP_954659 P43243 MATR3_HUMAN matrin 3 475 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCAGAAGTATAAAAGAATAAA 0.338 4 45 --- --- --- --- PASS PCDHAC2 56134 broad.mit.edu 37 5 140346482 140346482 + Missense_Mutation SNP T A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:140346482T>A uc003lii.2 + 1 371 c.131T>A c.(130-132)CTG>CAG p.L44Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.L44Q NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 44 Cadherin 1.|Extracellular (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) GCCTCCCAGCTGCGATACTCT 0.572 5 12 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554092 140554092 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:140554092C>A uc003lit.2 + 1 1850 c.1676C>A c.(1675-1677)CCC>CAC p.P559H NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 559 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAACTCGCCCTTCGTGCTG 0.726 8 90 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156390205 156390205 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:156390205G>C uc003lwh.2 - 1 62 c.5C>G c.(4-6)TCC>TGC p.S2C TIMD4_uc010jii.2_Missense_Mutation_p.S2C NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 2 integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGGTTCTTTGGACATTTTGAC 0.448 13 138 --- --- --- --- PASS THG1L 54974 broad.mit.edu 37 5 157158520 157158520 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:157158520G>C uc003lxd.2 + 1 198 c.72G>C c.(70-72)CTG>CTC p.L24L THG1L_uc011ddu.1_5'UTR NM_017872 NP_060342 Q9NWX6 THG1_HUMAN interphase cytoplasmic foci protein 45 24 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity 0 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACGGTACCTGAGATTGGGGG 0.557 4 167 --- --- --- --- PASS RNF145 153830 broad.mit.edu 37 5 158585685 158585685 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:158585685G>A uc003lxp.2 - 11 2298 c.1985C>T c.(1984-1986)TCA>TTA p.S662L RNF145_uc011ddy.1_Missense_Mutation_p.S676L|RNF145_uc003lxo.1_Missense_Mutation_p.S690L|RNF145_uc011ddz.1_Missense_Mutation_p.S679L|RNF145_uc010jiq.1_Missense_Mutation_p.S692L NM_144726 NP_653327 Q96MT1 RN145_HUMAN ring finger protein 145 662 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) CCTCTAGGCTGATTCAACAGG 0.423 18 213 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160047610 160047610 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:160047610C>G uc003lym.1 - 15 3007 c.2160G>C c.(2158-2160)GAG>GAC p.E720D ATP10B_uc010jit.1_Missense_Mutation_p.E37D|ATP10B_uc003lyn.2_Missense_Mutation_p.E278D NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 720 Cytoplasmic (Potential). 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 ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATCAGGGCTCTCAGCCTCGT 0.642 5 63 --- --- --- --- PASS ZNF346 23567 broad.mit.edu 37 5 176477774 176477774 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr5:176477774G>C uc003mfi.2 + 5 583 c.540G>C c.(538-540)ATG>ATC p.M180I ZNF346_uc011dfr.1_Missense_Mutation_p.M148I|ZNF346_uc011dfs.1_Missense_Mutation_p.M82I|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.M205I|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN zinc finger protein 346 180 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding 0 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) 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) ATAGAGAGATGATAGACCCAG 0.463 11 90 --- --- --- --- PASS SERPINB6 5269 broad.mit.edu 37 6 2948803 2948803 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:2948803C>T uc003muk.2 - 6 2855 c.860G>A c.(859-861)CGC>CAC p.R287H SERPINB6_uc003mui.2_Missense_Mutation_p.R170H|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.R287H|SERPINB6_uc003mum.2_Missense_Mutation_p.R287H|SERPINB6_uc003mun.2_Missense_Mutation_p.R287H|SERPINB6_uc003muo.2_Missense_Mutation_p.R287H NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 287 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) GCCCAGGTTGCGCAGGACACT 0.537 10 207 --- --- --- --- PASS MYLIP 29116 broad.mit.edu 37 6 16130818 16130818 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:16130818G>A uc003nbq.2 + 2 355 c.118G>A c.(118-120)GAC>AAC p.D40N MYLIP_uc003nbr.2_Intron NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 40 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) CATAGAAGTTGACTATTTTGG 0.478 9 148 --- --- --- --- PASS FAM65B 9750 broad.mit.edu 37 6 24865603 24865603 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:24865603C>T uc003neo.1 - 7 666 c.490G>A c.(490-492)GCA>ACA p.A164T FAM65B_uc011djs.1_Missense_Mutation_p.A193T|FAM65B_uc011dju.1_Missense_Mutation_p.A198T|FAM65B_uc003nep.2_Missense_Mutation_p.A164T|FAM65B_uc011djt.1_Missense_Mutation_p.A164T NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 164 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 GGGGATGTTGCGAAGGCTTGC 0.493 4 73 --- --- --- --- PASS HIST1H2BI 8346 broad.mit.edu 37 6 26273483 26273483 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:26273483G>C uc003nhk.2 + 1 280 c.280G>C c.(280-282)GAG>CAG p.E94Q HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 94 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CACTTCCAGGGAGATCCAAAC 0.592 3 127 --- --- --- --- PASS MOG 4340 broad.mit.edu 37 6 29627140 29627140 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:29627140G>A uc003nnf.2 + 2 311 c.133G>A c.(133-135)GTC>ATC p.V45I MOG_uc003qzk.1_Missense_Mutation_p.V45I|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.V45I|MOG_uc003nmz.2_Missense_Mutation_p.V45I|MOG_uc011dlt.1_5'UTR|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.V45I|MOG_uc003nne.2_Missense_Mutation_p.V45I|MOG_uc003nng.2_Missense_Mutation_p.V45I|MOG_uc003nnh.2_Missense_Mutation_p.V45I|MOG_uc003nni.2_Missense_Mutation_p.V45I|MOG_uc003nnj.2_Missense_Mutation_p.V45I|MOG_uc003nnk.2_Missense_Mutation_p.V45I NM_206809 NP_996532 Q16653 MOG_HUMAN myelin oligodendrocyte glycoprotein isoform 45 Ig-like V-type.|Extracellular (Potential). cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane ovary(1) 1 CCGGGCTCTGGTCGGGGATGA 0.547 70 189 --- --- --- --- PASS C6orf27 80737 broad.mit.edu 37 6 31733830 31733830 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:31733830G>A uc011dog.1 - 16 2567 c.2329C>T c.(2329-2331)CAC>TAC p.H777Y NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 777 extracellular region ovary(3) 3 AGTTCCAGGTGAGCCCTGGAG 0.647 10 126 --- --- --- --- PASS HSPA1L 3305 broad.mit.edu 37 6 31778604 31778604 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:31778604C>G uc003nxh.2 - 2 1329 c.1146G>C c.(1144-1146)CTG>CTC p.L382L HSPA1L_uc010jte.2_Silent_p.L382L NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 382 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 TGTCCCCCATCAGGATGGCTG 0.597 4 101 --- --- --- --- PASS SLC39A7 7922 broad.mit.edu 37 6 33169260 33169260 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:33169260G>C uc003odf.2 + 2 355 c.238G>C c.(238-240)GAC>CAC p.D80H RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.D80H|SLC39A7_uc011dqv.1_Intron|SLC39A7_uc003odh.2_5'Flank NM_001077516 NP_001070984 Q92504 S39A7_HUMAN solute carrier family 39, member 7 80 His-rich. endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity large_intestine(1) 1 CCACGATCACGACCATGGACA 0.537 3 128 --- --- --- --- PASS ETV7 51513 broad.mit.edu 37 6 36336811 36336811 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:36336811G>A uc003omb.2 - 6 851 c.702C>T c.(700-702)CTC>CTT p.L234L ETV7_uc003olz.1_Silent_p.L234L|ETV7_uc003oma.1_Silent_p.L179L|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Silent_p.L179L|ETV7_uc010jwj.2_Silent_p.L175L|ETV7_uc010jwh.2_Silent_p.L153L|ETV7_uc010jwi.2_Silent_p.L157L|ETV7_uc011dtl.1_Silent_p.L83L NM_016135 NP_057219 Q9Y603 ETV7_HUMAN ets variant 7 234 ETS. 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 GGGTATCAAGGAGCAGCTGAT 0.537 5 109 --- --- --- --- PASS TJAP1 93643 broad.mit.edu 37 6 43472651 43472651 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:43472651C>G uc003ovd.2 + 11 1108 c.732C>G c.(730-732)CTC>CTG p.L244L TJAP1_uc003ovf.2_Silent_p.L234L|TJAP1_uc003ove.2_Silent_p.L234L|TJAP1_uc003ovc.2_Silent_p.L234L|TJAP1_uc010jyp.2_Silent_p.L203L|TJAP1_uc011dvh.1_Silent_p.L234L|TJAP1_uc003ovg.2_Silent_p.L110L|TJAP1_uc011dvi.1_Silent_p.L244L|TJAP1_uc011dvj.1_Silent_p.L44L|TJAP1_uc003ovi.2_Silent_p.L110L NM_001146016 NP_001139488 Q5JTD0 TJAP1_HUMAN tight junction associated protein 1 isoform a 244 Golgi apparatus|tight junction protein binding 0 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CTCTACTGCTCAATTCAGCCC 0.632 6 152 --- --- --- --- PASS MUT 4594 broad.mit.edu 37 6 49416531 49416531 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:49416531G>C uc003ozg.3 - 7 1697 c.1442C>G c.(1441-1443)TCT>TGT p.S481C NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 481 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TATCTTACCAGAATCTATTCT 0.333 4 169 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49704215 49704215 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:49704215G>T uc003ozs.2 - 3 93 c.78C>A c.(76-78)CCC>CCA p.P26P NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 26 innate immune response proteinaceous extracellular matrix|specific granule p.P26P(1) skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CAGTAAAAGCGGGATCCTAAG 0.368 39 192 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51890607 51890607 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:51890607A>G uc003pah.1 - 32 4277 c.4001T>C c.(4000-4002)CTG>CCG p.L1334P PKHD1_uc003pai.2_Missense_Mutation_p.L1334P NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1334 IPT/TIG 8; atypical.|Extracellular (Potential). 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) ATCACAGTTCAGGTTCCCCAG 0.527 3 113 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51900492 51900492 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:51900492G>A uc003pah.1 - 28 3401 c.3125C>T c.(3124-3126)TCT>TTT p.S1042F PKHD1_uc003pai.2_Missense_Mutation_p.S1042F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1042 IPT/TIG 5.|Extracellular (Potential). 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) TTCCAAACTAGAGCCTCGGAT 0.433 11 142 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79655828 79655828 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:79655828C>T uc003pir.2 - 38 4746 c.4520G>A c.(4519-4521)AGA>AAA p.R1507K PHIP_uc003piq.2_Missense_Mutation_p.R531K|PHIP_uc011dyp.1_Missense_Mutation_p.R1506K|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.R393K NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1507 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCGGTTGCTTCTGGTTCGAAC 0.428 4 92 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446684 85446684 + Nonsense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:85446684G>A uc003pkl.1 - 8 1543 c.1543C>T c.(1543-1545)CAG>TAG p.Q515* TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 515 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TAGGAACCCTGATGGGTCTGG 0.483 15 247 --- --- --- --- PASS FAM162B 221303 broad.mit.edu 37 6 117086374 117086374 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:117086374C>A uc003pxi.2 - 2 364 c.217G>T c.(217-219)GAC>TAC p.D73Y NM_001085480 NP_001078949 Q5T6X4 F162B_HUMAN hypothetical protein LOC221303 73 integral to membrane 0 ATTTTCTTGTCGAACTGCGAA 0.617 6 56 --- --- --- --- PASS MCM9 254394 broad.mit.edu 37 6 119243248 119243248 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:119243248G>T uc003pyh.2 - 4 888 c.625C>A c.(625-627)CAA>AAA p.Q209K NM_153255 NP_694987 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 209 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity ovary(1) 1 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) GATAGCCTTTGAACCTAGCAA 0.338 9 140 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127837647 127837647 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:127837647C>T uc003qbd.2 - 2 978 c.113G>A c.(112-114)CGA>CAA p.R38Q NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 38 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TGACTGAGCTCGCTGCTGCTT 0.662 6 40 --- --- --- --- PASS C6orf191 253582 broad.mit.edu 37 6 130164698 130164698 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:130164698G>A uc003qbs.2 - 3 253 c.170C>T c.(169-171)TCA>TTA p.S57L NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 57 integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) GTTGAGCCATGAGGGATTTGT 0.299 17 147 --- --- --- --- PASS PDCD2 5134 broad.mit.edu 37 6 170892684 170892684 + Silent SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr6:170892684C>A uc003qxw.2 - 2 514 c.435G>T c.(433-435)ACG>ACT p.T145T PDCD2_uc003qxv.2_Silent_p.T112T|PDCD2_uc003qxx.1_Silent_p.T145T|PDCD2_uc003qxy.2_Silent_p.T112T|PDCD2_uc003qxz.2_Silent_p.T145T|PDCD2_uc003qya.2_Silent_p.T112T|PDCD2_uc003qyb.1_Silent_p.T68T NM_002598 NP_002589 Q16342 PDCD2_HUMAN programmed cell death 2 isoform 1 145 MYND-type. apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding 0 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) ATCTGGAGCACGTTTTGGGGC 0.507 3 83 --- --- --- --- PASS ACTB 60 broad.mit.edu 37 7 5567445 5567445 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:5567445C>G uc003sos.3 - 5 1098 c.1062G>C c.(1060-1062)CAG>CAC p.Q354H ACTB_uc003sor.3_Missense_Mutation_p.Q232H|ACTB_uc003sot.3_Missense_Mutation_p.Q354H|ACTB_uc003soq.3_Missense_Mutation_p.Q232H|ACTB_uc010ksy.2_Missense_Mutation_p.Q232H NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 354 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) TGATCCACATCTGCTGGAAGG 0.577 13 145 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11675950 11675950 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:11675950G>A uc003ssf.3 - 2 1081 c.829C>T c.(829-831)CGC>TGC p.R277C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 277 Extracellular (Potential).|Potential. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCTTCCCGCGTCTCCTTGCT 0.537 HNSCC(18;0.044) 19 137 --- --- --- --- PASS HIP1 3092 broad.mit.edu 37 7 75186969 75186969 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:75186969C>A uc003uds.1 - 16 1611 c.1570G>T c.(1570-1572)GGC>TGC p.G524C HIP1_uc011kfz.1_Missense_Mutation_p.G401C NM_005338 NP_005329 O00291 HIP1_HUMAN huntingtin interacting protein 1 524 Potential. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1) 8 TTCCGCTGGCCCTGGTCACTG 0.582 T PDGFRB CMML 18 184 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764823 82764823 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:82764823C>A uc003uhx.2 - 3 2332 c.2043G>T c.(2041-2043)CAG>CAT p.Q681H PCLO_uc003uhv.2_Missense_Mutation_p.Q681H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 627 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGGGGAAGTCTGCTGTGGCT 0.527 6 70 --- --- --- --- PASS BAIAP2L1 55971 broad.mit.edu 37 7 97944898 97944898 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:97944898C>G uc003upj.2 - 7 776 c.513G>C c.(511-513)CAG>CAC p.Q171H NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 171 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GGATTTCACTCTGACGAGAAG 0.393 3 119 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100684326 100684326 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:100684326C>T uc003uxp.1 + 3 9682 c.9629C>T c.(9628-9630)ACC>ATC p.T3210I MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3210 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GCTGAAGGTACCAGCATTCCA 0.498 10 406 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103290727 103290727 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:103290727C>G uc003vca.2 - 16 2156 c.1996G>C c.(1996-1998)GAT>CAT p.D666H RELN_uc010liz.2_Missense_Mutation_p.D666H NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 666 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 ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TAACCATTATCAATTGCCCAC 0.438 13 102 --- --- --- --- PASS FOXP2 93986 broad.mit.edu 37 7 114282526 114282526 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:114282526G>C uc003vhb.2 + 7 1211 c.837G>C c.(835-837)ATG>ATC p.M279I FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.M304I|FOXP2_uc003vha.2_Missense_Mutation_p.M187I|FOXP2_uc011kmu.1_Missense_Mutation_p.M296I|FOXP2_uc011kmv.1_Missense_Mutation_p.M278I|FOXP2_uc010ljz.1_Missense_Mutation_p.M187I|FOXP2_uc003vgx.2_Missense_Mutation_p.M279I|FOXP2_uc003vhd.2_Missense_Mutation_p.M279I|FOXP2_uc003vhc.2_Missense_Mutation_p.M304I NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 279 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TTCACAGTATGGAAGACAATG 0.428 8 54 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123150018 123150018 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:123150018G>C uc003vkn.2 - 3 1046 c.469C>G c.(469-471)CTT>GTT p.L157V IQUB_uc003vko.2_Missense_Mutation_p.L157V|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.L157V|IQUB_uc003vkq.2_Missense_Mutation_p.L157V NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 157 Ubiquitin-like. ovary(3)|large_intestine(1) 4 TGGTCCTTAAGATATTTAAGA 0.308 26 258 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133861738 133861738 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:133861738G>C uc003vrm.1 + 9 1046 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 344 LRRCT. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GGAAAAGTCTGAATATTGGTT 0.353 3 94 --- --- --- --- PASS INSIG1 3638 broad.mit.edu 37 7 155094081 155094081 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr7:155094081C>G uc003wly.2 + 4 869 c.658C>G c.(658-660)CTA>GTA p.L220V INSIG1_uc011kvu.1_Missense_Mutation_p.L68V|INSIG1_uc003wlz.2_Intron NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 220 Helical; (Potential). cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCTTTTCTAGCTACGCT 0.438 6 91 --- --- --- --- PASS EGR3 1960 broad.mit.edu 37 8 22548418 22548418 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr8:22548418G>T uc003xcm.1 - 2 1090 c.732C>A c.(730-732)GGC>GGA p.G244G EGR3_uc011kzn.1_Silent_p.G206G|EGR3_uc011kzo.1_Silent_p.G190G NM_004430 NP_004421 Q06889 EGR3_HUMAN early growth response 3 244 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GGGGCAGGCTGCCAAAGCCCG 0.662 13 102 --- --- --- --- PASS HOOK3 84376 broad.mit.edu 37 8 42868513 42868513 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr8:42868513G>C uc003xpr.2 + 21 2228 c.1986G>C c.(1984-1986)GAG>GAC p.E662D NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 662 Potential.|Required for interaction with MSR1.|Required for association with Golgi. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AGATGGAAGAGAAATATATTG 0.249 T RET papillary thyroid 5 118 --- --- --- --- PASS SDC2 6383 broad.mit.edu 37 8 97621715 97621715 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr8:97621715G>A uc003yhv.1 + 5 1163 c.545G>A c.(544-546)GGA>GAA p.G182E SDC2_uc011lgu.1_Missense_Mutation_p.G153E NM_002998 NP_002989 P34741 SDC2_HUMAN syndecan 2 precursor 182 Cytoplasmic (Potential). integral to plasma membrane cytoskeletal protein binding|PDZ domain binding ovary(2) 2 Breast(36;3.41e-05) Sargramostim(DB00020) TATGACCTTGGAGAACGCAAA 0.418 4 82 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 100994303 100994303 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr8:100994303C>T uc003yjb.1 - 22 3417 c.3222G>A c.(3220-3222)AAG>AAA p.K1074K RGS22_uc003yja.1_Silent_p.K893K|RGS22_uc003yjc.1_Silent_p.K1062K NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 1074 RGS 2. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TTGTAATCTTCTTCTGGATGA 0.358 3 74 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139833588 139833588 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr8:139833588C>T uc003yvd.2 - 7 1483 c.1036G>A c.(1036-1038)GCT>ACT p.A346T NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 346 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCCTGACAGCATCTTTCATG 0.572 HNSCC(7;0.00092) 10 179 --- --- --- --- PASS DOCK8 81704 broad.mit.edu 37 9 368110 368110 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:368110G>C uc003zgf.2 + 15 1884 c.1772G>C c.(1771-1773)GGA>GCA p.G591A DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.G523A|DOCK8_uc010mgw.1_5'UTR|DOCK8_uc003zgk.2_5'UTR|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 591 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTTATGTGTGGAGAAGATGCT 0.473 11 112 --- --- --- --- PASS PTPRD 5789 broad.mit.edu 37 9 8523518 8523518 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:8523518C>T uc003zkk.2 - 18 1397 c.686G>A c.(685-687)CGA>CAA p.R229Q PTPRD_uc003zkp.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkq.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkr.2_Missense_Mutation_p.R223Q|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.R229Q|PTPRD_uc003zko.2_Missense_Mutation_p.R226Q NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 229 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CCAACCTTCTCGCAGCTCTGA 0.368 TSP Lung(15;0.13) 3 29 --- --- --- --- PASS MOBKL2B 79817 broad.mit.edu 37 9 27455464 27455464 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:27455464C>G uc003zqn.2 - 2 581 c.85G>C c.(85-87)GAG>CAG p.E29Q NM_024761 NP_079037 Q86TA1 MOL2B_HUMAN MOB1, Mps One Binder kinase activator-like 2B 29 metal ion binding|protein binding ovary(1)|pleura(1) 2 all_neural(11;9.12e-11) Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397) TTGTGCAGCTCAAACCTCTGT 0.552 10 218 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32634386 32634386 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:32634386A>G uc003zrg.1 - 1 1282 c.1192T>C c.(1192-1194)TCT>CCT p.S398P uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 398 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) ATCATTCTAGATTTTATCACA 0.458 34 191 --- --- --- --- PASS ABCA1 19 broad.mit.edu 37 9 107581073 107581073 + Nonsense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:107581073A>T uc004bcl.2 - 23 3646 c.3333T>A c.(3331-3333)TGT>TGA p.C1111* NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 1111 ABC transporter 1. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGGAGCCCACACAGCACAGCT 0.547 12 73 --- --- --- --- PASS EPB41L4B 54566 broad.mit.edu 37 9 112018447 112018447 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:112018447C>G uc004bdz.1 - 9 1193 c.898G>C c.(898-900)GAA>CAA p.E300Q EPB41L4B_uc004bea.2_Missense_Mutation_p.E300Q NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 300 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TTAGCTCCTTCAAAGATTAAT 0.368 3 152 --- --- --- --- PASS TNFSF15 9966 broad.mit.edu 37 9 117552889 117552889 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:117552889G>C uc004bjh.2 - 4 715 c.599C>G c.(598-600)TCT>TGT p.S200C TNFSF15_uc004bjg.2_Missense_Mutation_p.S141C NM_005118 NP_005109 O95150 TNF15_HUMAN tumor necrosis factor (ligand) superfamily, 200 Extracellular (Potential). activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding 0 TTCGCATACAGACTTGGTCCC 0.537 4 48 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120476482 120476482 + Silent SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:120476482A>G uc004bjz.2 + 3 2367 c.2076A>G c.(2074-2076)CTA>CTG p.L692L TLR4_uc004bka.2_Silent_p.L652L|TLR4_uc004bkb.2_Silent_p.L492L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 692 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GGAATGAGCTAGTAAAGAATT 0.453 16 93 --- --- --- --- PASS CRB2 286204 broad.mit.edu 37 9 126132615 126132615 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:126132615C>T uc004bnx.1 + 7 1375 c.1283C>T c.(1282-1284)CCT>CTT p.P428L CRB2_uc004bnw.1_Missense_Mutation_p.P428L NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 428 Extracellular (Potential).|EGF-like 9. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CACTGCCCACCTGGTACCCAT 0.632 4 61 --- --- --- --- PASS DENND1A 57706 broad.mit.edu 37 9 126219678 126219678 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:126219678C>T uc004bnz.1 - 15 1368 c.1135G>A c.(1135-1137)GAA>AAA p.E379K DENND1A_uc011lzl.1_Missense_Mutation_p.E154K|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Missense_Mutation_p.E347K|DENND1A_uc004boa.1_Missense_Mutation_p.E379K|DENND1A_uc004bob.1_Missense_Mutation_p.E349K|DENND1A_uc004boc.2_Missense_Mutation_p.E347K NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 379 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 CTGAAACCTTCGCCGGAATTG 0.433 4 130 --- --- --- --- PASS TRUB2 26995 broad.mit.edu 37 9 131084583 131084583 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:131084583C>G uc004buq.1 - 1 115 c.105G>C c.(103-105)CTG>CTC p.L35L COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank NM_015679 NP_056494 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase homolog 2 35 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding ovary(1) 1 ACTCACCCTTCAGAAGTTGTA 0.562 5 76 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131765157 131765157 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:131765157C>A uc004bws.1 + 37 4221 c.4199C>A c.(4198-4200)TCC>TAC p.S1400Y NUP188_uc004bwu.2_Missense_Mutation_p.S743Y NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1400 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 TACCGCCTGTCCATGTCCCTG 0.582 4 86 --- --- --- --- PASS GLT6D1 360203 broad.mit.edu 37 9 138516149 138516149 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr9:138516149C>T uc010nbd.1 - 5 879 c.625G>A c.(625-627)GAG>AAG p.E209K NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 209 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GGCCTCCTCTCATAAGGGAAG 0.527 7 102 --- --- --- --- PASS NET1 10276 broad.mit.edu 37 10 5496952 5496952 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:5496952G>C uc001iia.2 + 10 1206 c.1068G>C c.(1066-1068)AAG>AAC p.K356N NET1_uc010qar.1_Missense_Mutation_p.K175N|NET1_uc001iib.2_Missense_Mutation_p.K302N|NET1_uc010qas.1_Missense_Mutation_p.K175N NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 356 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 TCAACTTGAAGAAAGGTGAAT 0.428 3 84 --- --- --- --- PASS KIAA1217 56243 broad.mit.edu 37 10 24783456 24783456 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:24783456G>A uc001iru.3 + 7 2110 c.1707G>A c.(1705-1707)CAG>CAA p.Q569Q KIAA1217_uc001irs.2_Silent_p.Q489Q|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irv.1_Intron|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Intron|KIAA1217_uc001iry.2_Intron NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 569 Potential. embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 TGGAGAAACAGATTGCCAGTT 0.413 5 80 --- --- --- --- PASS LYZL2 119180 broad.mit.edu 37 10 30915842 30915842 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:30915842C>A uc001ivk.2 - 2 154 c.141G>T c.(139-141)ATG>ATT p.M47I NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 1 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) CCGCAGCCTTCATCCTCAAAG 0.537 5 78 --- --- --- --- PASS RASGEF1A 221002 broad.mit.edu 37 10 43695154 43695154 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:43695154C>G uc001jap.1 - 7 900 c.819G>C c.(817-819)CTG>CTC p.L273L RASGEF1A_uc001jao.1_Silent_p.L281L NM_145313 NP_660356 Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 273 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 CCAGCATGCTCAGGCAGTTGA 0.617 6 41 --- --- --- --- PASS C10orf107 219621 broad.mit.edu 37 10 63519826 63519826 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:63519826G>C uc010qik.1 + 5 603 c.298G>C c.(298-300)GAG>CAG p.E100Q NM_173554 NP_775825 Q8IVU9 CJ107_HUMAN hypothetical protein LOC219621 100 0 Prostate(12;0.016) GCAAGTGATAGAGGTTGTCAA 0.413 10 66 --- --- --- --- PASS SUPV3L1 6832 broad.mit.edu 37 10 70960210 70960210 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:70960210C>T uc001jpe.1 + 11 1528 c.1473C>T c.(1471-1473)CTC>CTT p.L491L SUPV3L1_uc010qjd.1_Silent_p.L360L NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 491 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 ATGAAGATCTCAGTTTATTAA 0.433 5 64 --- --- --- --- PASS SUPV3L1 6832 broad.mit.edu 37 10 70967669 70967669 + Missense_Mutation SNP G C C rs150112121 TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:70967669G>C uc001jpe.1 + 14 1952 c.1897G>C c.(1897-1899)GAT>CAT p.D633H SUPV3L1_uc010qjd.1_Missense_Mutation_p.D502H NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 633 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 AGCTGTCCACGATGTCTTGGA 0.383 14 188 --- --- --- --- PASS ZMYND17 118490 broad.mit.edu 37 10 75184893 75184893 + Missense_Mutation SNP G A A rs137962387 by1000genomes TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:75184893G>A uc001jud.2 - 6 1192 c.1126C>T c.(1126-1128)CGT>TGT p.R376C ZMYND17_uc001juc.2_Missense_Mutation_p.R376C|ZMYND17_uc009xrh.2_Missense_Mutation_p.R399C|ZMYND17_uc009xrg.2_Missense_Mutation_p.R155C NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN zinc finger, MYND domain containing 17 376 zinc ion binding ovary(1) 1 Prostate(51;0.0119) TTATAGTCACGAAGTAGCAGC 0.413 8 99 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85956342 85956342 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:85956342G>C uc001kcv.2 + 3 233 c.233G>C c.(232-234)AGA>ACA p.R78T CDHR1_uc001kcw.2_Missense_Mutation_p.R78T NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 78 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 CCCAGCACTAGAAGCGTCTTT 0.557 7 116 --- --- --- --- PASS OPALIN 93377 broad.mit.edu 37 10 98105744 98105744 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:98105744C>G uc001kmj.2 - 6 819 c.380G>C c.(379-381)AGA>ACA p.R127T OPALIN_uc010qor.1_Missense_Mutation_p.R117T|OPALIN_uc001kmi.2_Missense_Mutation_p.R117T|OPALIN_uc001kmk.2_Missense_Mutation_p.R104T|OPALIN_uc010qos.1_RNA NM_033207 NP_149984 Q96PE5 OPALI_HUMAN transmembrane protein 10 isoform a 127 Golgi apparatus|integral to membrane|plasma membrane 0 TCCCCTCCTTCTTTCCATTTC 0.517 10 160 --- --- --- --- PASS FAM175B 23172 broad.mit.edu 37 10 126523297 126523297 + Silent SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:126523297A>G uc001lib.3 + 9 1050 c.1005A>G c.(1003-1005)CAA>CAG p.Q335Q NM_032182 NP_115558 Q15018 F175B_HUMAN hypothetical protein LOC23172 335 BRISC complex polyubiquitin binding 0 CTCGACCTCAAGCTGTGGGCT 0.522 10 46 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129902207 129902207 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr10:129902207G>C uc001lke.2 - 13 8092 c.7897C>G c.(7897-7899)CAC>GAC p.H2633D MKI67_uc001lkf.2_Missense_Mutation_p.H2273D|MKI67_uc009yav.1_Missense_Mutation_p.H2208D|MKI67_uc009yaw.1_Missense_Mutation_p.H1783D NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2633 14.|16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGTTCTTTGTGTGTGTGTGTG 0.502 7 127 --- --- --- --- PASS PHRF1 57661 broad.mit.edu 37 11 607998 607998 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:607998G>A uc001lqe.2 + 14 2673 c.2542G>A c.(2542-2544)GAG>AAG p.E848K PHRF1_uc010qwc.1_Missense_Mutation_p.E847K|PHRF1_uc010qwd.1_Missense_Mutation_p.E846K|PHRF1_uc010qwe.1_Missense_Mutation_p.E844K|PHRF1_uc009ybz.1_Missense_Mutation_p.E638K|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 848 RNA polymerase binding|zinc ion binding 0 CAGCAGCCCCGAGAGGTCTGG 0.662 7 119 --- --- --- --- PASS TNNT3 7140 broad.mit.edu 37 11 1955618 1955618 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:1955618G>A uc001luu.3 + 12 635 c.423G>A c.(421-423)CTG>CTA p.L141L TNNT3_uc001lun.2_Silent_p.L37L|TNNT3_uc001luw.3_Silent_p.L133L|TNNT3_uc001luo.3_Silent_p.L133L|TNNT3_uc001lup.3_Silent_p.L139L|TNNT3_uc001luq.3_Silent_p.L133L|TNNT3_uc001lur.2_Silent_p.L133L|TNNT3_uc010qxf.1_Silent_p.L139L|TNNT3_uc010qxg.1_Silent_p.L73L NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 152 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGGACGACCTGAAGAAGAAGA 0.587 4 60 --- --- --- --- PASS TSSC4 10078 broad.mit.edu 37 11 2424480 2424480 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:2424480C>G uc001lwj.2 + 4 978 c.617C>G c.(616-618)TCC>TGC p.S206C TSSC4_uc001lwi.2_Missense_Mutation_p.S142C|TSSC4_uc001lwk.2_Missense_Mutation_p.S206C|TSSC4_uc001lwl.2_Missense_Mutation_p.S206C NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 206 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGATCCCTCCAGCTGTGGG 0.652 4 83 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22364891 22364891 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:22364891G>T uc001mqk.2 + 3 851 c.438G>T c.(436-438)GCG>GCT p.A146A NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 146 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GCTACATCGCGTCTCGGCTGG 0.587 19 91 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418443 55418443 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:55418443G>C uc001nhs.1 + 1 64 c.64G>C c.(64-66)GAG>CAG p.E22Q NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) CCCAGAGATTGAGAAAGTTTG 0.378 8 66 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62290416 62290416 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:62290416C>A uc001ntl.2 - 5 11773 c.11473G>T c.(11473-11475)GAT>TAT p.D3825Y AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 3825 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGGTTCACATCCACATCTGGG 0.517 8 414 --- --- --- --- PASS TAF6L 10629 broad.mit.edu 37 11 62554633 62554633 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:62554633C>G uc001nvc.2 + 11 1835 c.1734C>G c.(1732-1734)TTC>TTG p.F578L TMEM179B_uc001nvd.3_5'Flank NM_006473 NP_006464 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II 578 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity ovary(3) 3 GGCGCCTTTTCCAGACTGCCT 0.711 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 18 --- --- --- --- PASS PYGM 5837 broad.mit.edu 37 11 64514192 64514192 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:64514192C>A uc001oax.3 - 20 3285 c.2468G>T c.(2467-2469)CGG>CTG p.R823L RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R735L NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 823 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) CCAGATCTCCCGGGCATACTG 0.617 12 90 --- --- --- --- PASS RNF121 55298 broad.mit.edu 37 11 71668300 71668300 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:71668300G>C uc001ora.2 + 2 431 c.91G>C c.(91-93)GAG>CAG p.E31Q RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron NM_018320 NP_060790 Q9H920 RN121_HUMAN ring finger protein 121 31 integral to membrane zinc ion binding 0 CTCTCCAGAAGAGCAATGGAG 0.443 17 104 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73801934 73801934 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:73801934C>G uc001ouu.2 - 20 3792 c.3565G>C c.(3565-3567)GAG>CAG p.E1189Q NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1189 C2 1. centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) AGAACTCCCTCTGCTGTTCTT 0.493 9 61 --- --- --- --- PASS MMP13 4322 broad.mit.edu 37 11 102826338 102826338 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:102826338C>T uc001phl.2 - 1 125 c.97G>A c.(97-99)GAG>AAG p.E33K NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 33 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AGGTCTTCCTCAGACAAATCA 0.498 4 91 --- --- --- --- PASS KDELC2 143888 broad.mit.edu 37 11 108348418 108348418 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:108348418C>G uc001pkj.2 - 7 1380 c.1314G>C c.(1312-1314)AAG>AAC p.K438N KDELC2_uc001pki.2_Missense_Mutation_p.K382N NM_153705 NP_714916 Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 precursor 438 endoplasmic reticulum lumen ovary(1) 1 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) TTGCAATCTTCTTGGCTTCTT 0.413 15 136 --- --- --- --- PASS ARHGAP20 57569 broad.mit.edu 37 11 110486303 110486303 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:110486303C>T uc001pkz.1 - 6 804 c.519G>A c.(517-519)AAG>AAA p.K173K ARHGAP20_uc001pky.1_Silent_p.K150K|ARHGAP20_uc009yyb.1_Silent_p.K137K|ARHGAP20_uc001pla.1_Silent_p.K137K NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 173 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GCCATTTGTCCTTTTGTTCTG 0.313 15 80 --- --- --- --- PASS SIDT2 51092 broad.mit.edu 37 11 117066728 117066728 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:117066728G>C uc001pqh.1 + 26 2486 c.2445G>C c.(2443-2445)CTG>CTC p.L815L SIDT2_uc001pqi.1_Silent_p.L812L|SIDT2_uc001pqj.1_Silent_p.L127L|uc001pqk.1_RNA NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 815 Helical; (Potential). integral to membrane|lysosomal membrane 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) AGGTGTTGCTGACACTGGATG 0.617 14 150 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119030980 119030980 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:119030980C>T uc001pvs.2 + 13 1817 c.1481C>T c.(1480-1482)ACG>ATG p.T494M ABCG4_uc009zar.2_Missense_Mutation_p.T494M NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 494 Extracellular (Potential).|ABC transmembrane type-2. 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) TACTGGATGACGGGCCAGCCC 0.647 18 91 --- --- --- --- PASS GRIK4 2900 broad.mit.edu 37 11 120745935 120745935 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:120745935A>G uc001pxn.2 + 11 1434 c.1147A>G c.(1147-1149)AGG>GGG p.R383G GRIK4_uc009zav.1_Missense_Mutation_p.R383G|GRIK4_uc009zaw.1_Missense_Mutation_p.R383G|GRIK4_uc009zax.1_Missense_Mutation_p.R383G NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 383 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ACAGTTCACAAGGAATGGTTT 0.493 9 56 --- --- --- --- PASS ADAMTS8 11095 broad.mit.edu 37 11 130289067 130289067 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr11:130289067C>G uc001qgg.3 - 2 1199 c.841G>C c.(841-843)GAG>CAG p.E281Q NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 281 Peptidase M12B. 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) TCGGACACCTCTGGGCCCCAT 0.557 8 239 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2800327 2800327 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:2800327G>C uc009zdu.1 + 50 6941 c.6628G>C c.(6628-6630)GAG>CAG p.E2210Q CACNA1C_uc009zdv.1_Missense_Mutation_p.E2124Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E2116Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E2135Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E2133Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2168Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E2135Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2175Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E2147Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E2144Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E2162Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2155Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1934Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1898Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1863Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1923Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E818Q|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Missense_Mutation_p.E445Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2210 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGTGAGGAGGAGCTCCAGGA 0.607 3 42 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6078430 6078430 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:6078430G>A uc001qnn.1 - 45 7926 c.7676C>T c.(7675-7677)TCG>TTG p.S2559L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2559 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTGAAAGCCCGAGGGGCAGAC 0.592 4 43 --- --- --- --- PASS LTBR 4055 broad.mit.edu 37 12 6499369 6499369 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:6499369C>G uc001qny.1 + 9 1061 c.893C>G c.(892-894)TCT>TGT p.S298C LTBR_uc010sfc.1_Missense_Mutation_p.S279C|LTBR_uc001qnz.1_Missense_Mutation_p.S293C NM_002342 NP_002333 P36941 TNR3_HUMAN lymphotoxin beta receptor precursor 298 Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity lung(2) 2 CTACCCATTTCTGGAGATGTT 0.607 18 155 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9258841 9258841 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:9258841G>T uc001qvk.1 - 10 1208 c.1095C>A c.(1093-1095)TTC>TTA p.F365L A2M_uc009zgk.1_Missense_Mutation_p.F215L NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 365 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) CCTGCCCAAAGAAGGGAATTC 0.423 4 107 --- --- --- --- PASS PRB2 653247 broad.mit.edu 37 12 11546167 11546167 + Missense_Mutation SNP T A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:11546167T>A uc010shk.1 - 3 880 c.845A>T c.(844-846)AAG>ATG p.K282M 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) TCCTTGTGGCTTTCCTGGAGG 0.617 13 390 --- --- --- --- PASS ETV6 2120 broad.mit.edu 37 12 12037425 12037425 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:12037425C>T uc001qzz.2 + 6 1330 c.1056C>T c.(1054-1056)AGC>AGT p.S352S ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN ets variant 6 352 ETS. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/NTRK3(234)|ETV6/JAK2(11) soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1) 250 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) TTTCTGACAGCCGGTACGAAA 0.453 T NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5 congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL 10 154 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20766419 20766419 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:20766419G>A uc001reh.1 + 3 1076 c.1054G>A c.(1054-1056)GAG>AAG p.E352K NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 352 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CGTCATGGGCGAGGCCCACGG 0.532 5 105 --- --- --- --- PASS SLC39A5 283375 broad.mit.edu 37 12 56628613 56628613 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:56628613G>C uc010sqj.1 + 6 734 c.477G>C c.(475-477)CTG>CTC p.L159L SLC39A5_uc010sqi.1_Silent_p.L50L|SLC39A5_uc010sqk.1_Silent_p.L159L NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 159 Extracellular (By similarity). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 TCCAGTGTCTGAACGGCTCCC 0.443 4 271 --- --- --- --- PASS GLIPR1L2 144321 broad.mit.edu 37 12 75807396 75807396 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:75807396T>C uc001sxr.1 + 3 507 c.499T>C c.(499-501)TAC>CAC p.Y167H GLIPR1L2_uc001sxp.1_Missense_Mutation_p.Y167H|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.Y60H NM_152436 NP_689649 Q4G1C9 GRPL2_HUMAN GLI pathogenesis-related 1 like 2 167 integral to membrane ovary(1) 1 GGACCACTCTTACAAAGTTGG 0.289 11 212 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78574810 78574810 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:78574810G>A uc001syp.2 + 30 5850 c.5677G>A c.(5677-5679)GAG>AAG p.E1893K NAV3_uc001syo.2_Missense_Mutation_p.E1871K|NAV3_uc010sub.1_Missense_Mutation_p.E1350K|NAV3_uc009zsf.2_Missense_Mutation_p.E702K NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1893 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GAACATCACAGAGGCTGTTAG 0.473 HNSCC(70;0.22) 14 117 --- --- --- --- PASS APAF1 317 broad.mit.edu 37 12 99077009 99077009 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:99077009A>G uc001tfz.2 + 15 2712 c.2135A>G c.(2134-2136)CAT>CGT p.H712R APAF1_uc001tfy.2_Missense_Mutation_p.H701R|APAF1_uc001tga.2_Missense_Mutation_p.H701R|APAF1_uc001tgb.2_Missense_Mutation_p.H712R|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.H121R NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 712 WD 3. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) AACAGTAGTCATCATCTTCTC 0.393 21 89 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104033905 104033905 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:104033905A>T uc001tjw.2 + 9 1097 c.911A>T c.(910-912)CAC>CTC p.H304L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 304 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CTGAAGTCTCACTGCGAGTGT 0.373 7 85 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133306454 133306454 + Nonsense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr12:133306454G>C uc001ukx.2 - 11 2361 c.2294C>G c.(2293-2295)TCA>TGA p.S765* ANKLE2_uc009zyw.1_Nonsense_Mutation_p.S120* NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 765 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) ATTGATTCTTGAAGTCAGGAT 0.423 4 102 --- --- --- --- PASS RBM26 64062 broad.mit.edu 37 13 79979847 79979847 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr13:79979847G>C uc001vkz.2 - 1 77 c.63C>G c.(61-63)CTC>CTG p.L21L RBM26_uc001vky.2_Silent_p.L21L|RBM26_uc001vla.2_Silent_p.L21L|RBM26_uc001vlc.1_Silent_p.L21L|uc001vld.1_5'Flank|uc001vle.2_5'Flank NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 21 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) ACATGGGCTCGAGAGTCTTGC 0.567 6 68 --- --- --- --- PASS OR4K14 122740 broad.mit.edu 37 14 20483014 20483014 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:20483014C>A uc010tky.1 - 1 339 c.339G>T c.(337-339)ATG>ATT p.M113I NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) CCAGGAGCACCATCTCAGCCC 0.463 11 64 --- --- --- --- PASS DHRS4 10901 broad.mit.edu 37 14 24435598 24435598 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:24435598G>A uc001wla.2 + 6 671 c.638G>A c.(637-639)GGA>GAA p.G213E DHRS4_uc010aky.2_Intron|DHRS4_uc001wlb.2_Missense_Mutation_p.G179E|DHRS4_uc010akz.2_Intron|DHRS4_uc001wlc.3_Missense_Mutation_p.G213E|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron NM_021004 NP_066284 Q9BTZ2 DHRS4_HUMAN peroxisomal short-chain alcohol dehydrogenase 213 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CTAGCACCTGGACTTATCAAG 0.527 4 143 --- --- --- --- PASS BMP4 652 broad.mit.edu 37 14 54417514 54417514 + Missense_Mutation SNP A C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:54417514A>C uc001xal.3 - 3 650 c.463T>G c.(463-465)TCT>GCT p.S155A BMP4_uc010aoh.2_Missense_Mutation_p.S155A|BMP4_uc001xao.3_Missense_Mutation_p.S155A|BMP4_uc001xan.3_Missense_Mutation_p.S155A NM_130851 NP_570912 P12644 BMP4_HUMAN bone morphogenetic protein 4 preproprotein 155 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity 0 AGCTCTGCAGAGGAGATCACC 0.532 8 48 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58831026 58831026 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:58831026C>G uc001xdp.2 + 20 2473 c.2219C>G c.(2218-2220)TCT>TGT p.S740C ARID4A_uc001xdo.2_Missense_Mutation_p.S740C|ARID4A_uc001xdq.2_Missense_Mutation_p.S740C|ARID4A_uc010apg.1_Missense_Mutation_p.S418C NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 740 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 CCAAAGATTTCTGCACATATA 0.289 3 124 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58831452 58831452 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:58831452C>G uc001xdp.2 + 20 2899 c.2645C>G c.(2644-2646)TCT>TGT p.S882C ARID4A_uc001xdo.2_Missense_Mutation_p.S882C|ARID4A_uc001xdq.2_Missense_Mutation_p.S882C|ARID4A_uc010apg.1_Missense_Mutation_p.S560C NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 882 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AATACTGTATCTCAAGAAAGG 0.333 3 59 --- --- --- --- PASS RHOJ 57381 broad.mit.edu 37 14 63747706 63747706 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:63747706G>T uc001xgb.1 + 3 698 c.255G>T c.(253-255)CTG>CTT p.L85L NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 85 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) ACAACCAGCTGAGGCCACTCT 0.517 4 107 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65246548 65246548 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:65246548G>A uc001xht.2 - 20 4422 c.4368C>T c.(4366-4368)ATC>ATT p.I1456I SPTB_uc001xhr.2_Silent_p.I1456I|SPTB_uc001xhs.2_Silent_p.I1456I|SPTB_uc001xhu.2_Silent_p.I1456I|SPTB_uc010aqi.2_Silent_p.I117I NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1456 Spectrin 12. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) ACCGCTTCTCGATGCTCAAGT 0.567 7 164 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65253537 65253537 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:65253537G>A uc001xht.2 - 15 3200 c.3146C>T c.(3145-3147)TCC>TTC p.S1049F SPTB_uc001xhr.2_Missense_Mutation_p.S1049F|SPTB_uc001xhs.2_Missense_Mutation_p.S1049F|SPTB_uc001xhu.2_Missense_Mutation_p.S1049F NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1049 Spectrin 8. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GCCCTGCAGGGATTGCTGCAG 0.607 5 109 --- --- --- --- PASS MPP5 64398 broad.mit.edu 37 14 67768824 67768824 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:67768824G>C uc001xjc.2 + 6 1256 c.790G>C c.(790-792)GAT>CAT p.D264H MPP5_uc001xjd.2_Missense_Mutation_p.D230H|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 264 PDZ. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) AAAGGCTCGTGATATTCCGTT 0.373 3 91 --- --- --- --- PASS MLH3 27030 broad.mit.edu 37 14 75514843 75514843 + Nonsense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:75514843C>A uc001xrd.1 - 2 1732 c.1516G>T c.(1516-1518)GAA>TAA p.E506* MLH3_uc001xre.1_Nonsense_Mutation_p.E506*|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 506 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) AAAAACATTTCTAAACTGGTT 0.388 MMR 6 128 --- --- --- --- PASS ESRRB 2103 broad.mit.edu 37 14 76928997 76928997 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:76928997G>A uc001xsq.1 + 3 574 c.507G>A c.(505-507)CTG>CTA p.L169L ESRRB_uc001xsr.2_Silent_p.L169L|ESRRB_uc001xso.2_RNA NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 169 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.0213) TGGGGATGCTGAAGGAAGGTA 0.587 10 257 --- --- --- --- PASS GSTZ1 2954 broad.mit.edu 37 14 77795519 77795519 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:77795519G>C uc001xtj.2 + 6 678 c.396G>C c.(394-396)CAG>CAC p.Q132H GSTZ1_uc001xtk.2_Missense_Mutation_p.Q90H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q77H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q77H NM_145870 NP_665877 O43708 MAAI_HUMAN glutathione transferase zeta 1 isoform 1 132 GST C-terminal. glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol|mitochondrion glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) Glutathione(DB00143) CCTGGGCCCAGAACGCCATCA 0.582 7 108 --- --- --- --- PASS SETD3 84193 broad.mit.edu 37 14 99865093 99865093 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:99865093G>C uc001ygc.2 - 13 1878 c.1708C>G c.(1708-1710)CTC>GTC p.L570V NM_032233 NP_115609 Q86TU7 SETD3_HUMAN SET domain containing 3 isoform a 570 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity 0 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) TCTTGATTGAGACTTTCATTT 0.473 5 201 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102515856 102515856 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:102515856G>C uc001yks.2 + 75 13616 c.13452G>C c.(13450-13452)GAG>GAC p.E4484D NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 4484 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ACTTCAGCGAGAGGATCAAAC 0.607 3 54 --- --- --- --- PASS ASPG 374569 broad.mit.edu 37 14 104571026 104571026 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:104571026C>T uc001yoq.1 + 9 1064 c.1004C>T c.(1003-1005)TCG>TTG p.S335L ASPG_uc001yoo.1_Missense_Mutation_p.S363L|ASPG_uc001yop.1_Missense_Mutation_p.S335L|ASPG_uc001yor.1_Missense_Mutation_p.S335L NM_001080464 NP_001073933 Q86U10 LPP60_HUMAN 60 kDa lysophospholipase 335 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity 0 GCCAAGCTATCGTATGTGCTG 0.662 6 37 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107218845 107218845 + RNA SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr14:107218845C>A uc010tyt.1 - 12 c.869G>T Parts of antibodies, mostly variable regions. 0 CAGCCCCTTCCCTGGAGCTTG 0.582 23 120 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28513702 28513702 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:28513702C>T uc001zbj.2 - 12 1613 c.1507G>A c.(1507-1509)GAT>AAT p.D503N HERC2_uc001zbl.1_Missense_Mutation_p.D198N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 503 WD 3. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGGTGACCATCAGAATGGGCA 0.532 4 65 --- --- --- --- PASS GJD2 57369 broad.mit.edu 37 15 35045123 35045123 + Silent SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:35045123C>A uc001zis.1 - 2 522 c.522G>T c.(520-522)CTG>CTT p.L174L uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 174 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) GGTGTGGAGTCAGCTCCTTAA 0.468 27 205 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42052646 42052646 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:42052646G>C uc010ucy.1 + 20 7498 c.7317G>C c.(7315-7317)ATG>ATC p.M2439I MGA_uc010ucz.1_Missense_Mutation_p.M2230I|MGA_uc010uda.1_Missense_Mutation_p.M1055I NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2400 Helix-loop-helix motif. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GTGGTGAAATGAGGGATCTCT 0.433 5 127 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44890849 44890849 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:44890849C>G uc001ztx.2 - 22 3903 c.3872G>C c.(3871-3873)AGC>ACC p.S1291T SPG11_uc010ueh.1_Missense_Mutation_p.S1291T|SPG11_uc010uei.1_Missense_Mutation_p.S1291T|SPG11_uc001zty.1_Missense_Mutation_p.S20T NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1291 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCTGATAAAGCTGTACTGAGC 0.428 8 92 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48829910 48829910 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:48829910T>C uc001zwx.1 - 7 962 c.634A>G c.(634-636)ACA>GCA p.T212A NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 212 TB 1. 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) CGGCCGACTGTGGCACAGCAG 0.577 22 160 --- --- --- --- PASS MAPK6 5597 broad.mit.edu 37 15 52357078 52357078 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:52357078C>G uc002abp.2 + 6 2841 c.2047C>G c.(2047-2049)CAC>GAC p.H683D NM_002748 NP_002739 Q16659 MK06_HUMAN mitogen-activated protein kinase 6 683 cell cycle ATP binding|MAP kinase activity lung(3)|ovary(1) 4 all cancers(107;0.0028) CCCACAGTTTCACAGTCCAGT 0.468 8 74 --- --- --- --- PASS TBC1D21 161514 broad.mit.edu 37 15 74166053 74166053 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:74166053G>A uc002avz.2 + 1 86 c.3G>A c.(1-3)ATG>ATA p.M1I TBC1D21_uc010ulc.1_Missense_Mutation_p.M1I NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 1 intracellular Rab GTPase activator activity ovary(2) 2 CAGGGGCCATGACCACCCTCT 0.552 OREG0023267 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 24 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 90969481 90969481 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr15:90969481G>C uc002bpl.1 + 3 396 c.295G>C c.(295-297)GAA>CAA p.E99Q NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 99 CH. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) CTATGATCGAGAACAGACCAG 0.423 3 77 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2806571 2806571 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:2806571G>A uc002crk.2 + 2 755 c.206G>A c.(205-207)CGA>CAA p.R69Q SRRM2_uc002crj.1_Intron|SRRM2_uc002crl.1_Missense_Mutation_p.R69Q|SRRM2_uc010bsu.1_Intron NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 69 Potential. 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 GTCGAGCTGCGATGCCTCGAG 0.627 8 100 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3613598 3613598 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:3613598G>A uc010btn.2 - 5 1751 c.1340C>T c.(1339-1341)TCG>TTG p.S447L NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 447 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 GGCCACTGACGATGCCAACGT 0.582 5 20 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18861663 18861663 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:18861663C>T uc002dfm.2 - 34 5542 c.5179G>A c.(5179-5181)GAA>AAA p.E1727K SMG1_uc010bwb.2_Missense_Mutation_p.E1587K|SMG1_uc010bwa.2_Missense_Mutation_p.E458K|SMG1_uc002dfo.3_Missense_Mutation_p.E25K NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 1727 FAT.|Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATAACTCCTTCAGTTGCACTT 0.408 4 76 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21033341 21033341 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:21033341G>C uc010vbe.1 - 40 5728 c.5728C>G c.(5728-5730)CCC>GCC p.P1910A NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1910 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGGTGGATGGGAGATGTCTGG 0.488 7 66 --- --- --- --- PASS CLN3 1201 broad.mit.edu 37 16 28497729 28497729 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:28497729C>T uc002dpo.2 - 8 939 c.616G>A c.(616-618)GGC>AGC p.G206S uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G128S|CLN3_uc010vcu.1_Missense_Mutation_p.G106S|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Missense_Mutation_p.G152S|CLN3_uc010vcv.1_Missense_Mutation_p.G182S|CLN3_uc010byd.2_Missense_Mutation_p.G206S|CLN3_uc002dpp.2_Missense_Mutation_p.G206S|CLN3_uc002dpt.1_Missense_Mutation_p.G106S|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.G206S|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.G152S|CLN3_uc002dqa.2_Missense_Mutation_p.G257S|CLN3_uc010vcx.1_Missense_Mutation_p.G106S|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 206 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 GGGGAGAGGCCGGCCTGGGTG 0.687 6 48 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30712191 30712191 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:30712191C>A uc002dze.1 + 3 431 c.46C>A c.(46-48)CAG>AAG p.Q16K NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 16 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) CCCAGTCCTACAGACACAGGT 0.532 3 54 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48250159 48250159 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:48250159C>G uc002eff.1 - 6 1167 c.817G>C c.(817-819)GAA>CAA p.E273Q ABCC11_uc002efg.1_Missense_Mutation_p.E273Q|ABCC11_uc002efh.1_Missense_Mutation_p.E273Q|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.E273Q NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 273 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CACACCCCTTCAAACAGGTAG 0.502 Cerumen_Type 6 179 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72992324 72992324 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:72992324C>G uc002fck.2 - 2 2394 c.1721G>C c.(1720-1722)AGT>ACT p.S574T ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 574 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) GACGCCCTCACTGTTAAAGCT 0.507 11 78 --- --- --- --- PASS PLCG2 5336 broad.mit.edu 37 16 81973631 81973631 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr16:81973631C>G uc002fgt.2 + 30 3600 c.3448C>G c.(3448-3450)CAT>GAT p.H1150D NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 1150 C2. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CTTTCTTGCTCATGCCACTTA 0.423 7 149 --- --- --- --- PASS INPP5K 51763 broad.mit.edu 37 17 1416780 1416780 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:1416780G>C uc002fsr.2 - 3 617 c.228C>G c.(226-228)CTC>CTG p.L76L INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Silent_p.L76L|INPP5K_uc010cjs.2_Intron NM_016532 NP_057616 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K isoform 76 Catalytic (Potential). actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding 0 GCACATCCATGAGGAAACTGC 0.493 4 211 --- --- --- --- PASS TEKT1 83659 broad.mit.edu 37 17 6718550 6718550 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:6718550G>A uc002gdt.2 - 5 671 c.561C>T c.(559-561)ATC>ATT p.I187I TEKT1_uc010vth.1_Silent_p.I41I NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 187 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) GCGAGAAGCAGATATCATCTA 0.488 16 159 --- --- --- --- PASS GAS7 8522 broad.mit.edu 37 17 9923193 9923193 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:9923193G>A uc002gmg.1 - 2 366 c.205C>T c.(205-207)CCG>TCG p.P69S GAS7_uc010vvd.1_Missense_Mutation_p.P21S|GAS7_uc002gmi.2_Missense_Mutation_p.P5S|GAS7_uc002gmj.1_Missense_Mutation_p.P9S|GAS7_uc010coh.1_Missense_Mutation_p.P9S NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 69 Poly-Pro. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TCTCCCGGCGGAGGGGGGACC 0.542 T MLL AML* 16 76 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10307706 10307706 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:10307706C>G uc002gmm.2 - 22 2724 c.2629G>C c.(2629-2631)GAG>CAG p.E877Q uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 877 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATTTTTTCCTCTAGCTCCTTC 0.438 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 10 83 --- --- --- --- PASS FBXW10 10517 broad.mit.edu 37 17 18682174 18682174 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:18682174A>G uc002guk.2 + 14 2954 c.2722A>G c.(2722-2724)ATA>GTA p.I908V FBXW10_uc002guj.2_Missense_Mutation_p.I907V|FBXW10_uc002gul.2_Missense_Mutation_p.I917V|FBXW10_uc010cqh.1_Missense_Mutation_p.I855V|FAM18B_uc002gum.2_5'Flank NM_031456 NP_113644 Q5XX13 FBW10_HUMAN F-box and WD-40 domain protein 10 908 ovary(1) 1 CCAGTCCACCATACCCCAGCC 0.502 9 203 --- --- --- --- PASS ERAL1 26284 broad.mit.edu 37 17 27182147 27182147 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:27182147C>A uc002hcy.1 + 1 105 c.95C>A c.(94-96)CCT>CAT p.P32H ERAL1_uc002hcx.1_Missense_Mutation_p.P32H|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank NM_005702 NP_005693 O75616 ERAL1_HUMAN Era-like 1 32 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding skin(1) 1 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) CGGGTGATCCCTTTTTCCTCA 0.627 12 84 --- --- --- --- PASS KRT24 192666 broad.mit.edu 37 17 38855808 38855808 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:38855808T>C uc002hvd.2 - 6 1306 c.1249A>G c.(1249-1251)ATC>GTC p.I417V NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 417 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) TCACCCCAGATCTGGCAGATC 0.567 12 198 --- --- --- --- PASS KRT31 3881 broad.mit.edu 37 17 39553742 39553742 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:39553742G>C uc002hwn.2 - 1 103 c.50C>G c.(49-51)TCC>TGC p.S17C KRT31_uc010cxn.2_Missense_Mutation_p.S17C NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 17 Head. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) GGGCCGGGAGGAGCAGCTGGT 0.652 6 51 --- --- --- --- PASS KRT14 3861 broad.mit.edu 37 17 39739351 39739351 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:39739351C>G uc002hxf.1 - 7 1377 c.1316G>C c.(1315-1317)AGA>ACA p.R439T JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron NM_000526 NP_000517 P02533 K1C14_HUMAN keratin 14 439 Tail.|Interaction with Type I keratins and keratin filaments. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.000307) CTTACCATCTCTGGATGACTG 0.577 8 140 --- --- --- --- PASS AARSD1 80755 broad.mit.edu 37 17 41122314 41122314 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:41122314C>T uc002icf.2 - 7 771 c.553G>A c.(553-555)GAT>AAT p.D185N AARSD1_uc002icd.2_Missense_Mutation_p.D124N|AARSD1_uc002ice.2_Missense_Mutation_p.D94N|AARSD1_uc010whg.1_Missense_Mutation_p.D185N|AARSD1_uc002icg.2_RNA|AARSD1_uc002ich.2_Missense_Mutation_p.D147N|AARSD1_uc010whh.1_Missense_Mutation_p.D152N NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 Error:Variant_position_missing_in_Q9BTE6_after_alignment alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) ACATCCAAATCATCCATGGCA 0.453 45 432 --- --- --- --- PASS SPOP 8405 broad.mit.edu 37 17 47688717 47688717 + Nonsense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:47688717C>A uc010dbk.2 - 7 1215 c.583G>T c.(583-585)GAG>TAG p.E195* SPOP_uc002ipb.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipc.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipd.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipe.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipf.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipg.2_Nonsense_Mutation_p.E195* NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein 195 BTB. mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 CGGGAATTCTCCCACAGTCCT 0.483 Prostate(2;0.17) 48 221 --- --- --- --- PASS TMEM49 81671 broad.mit.edu 37 17 57842496 57842496 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:57842496G>C uc002ixu.3 + 6 852 c.579G>C c.(577-579)ATG>ATC p.M193I TMEM49_uc010wog.1_Missense_Mutation_p.M1I|TMEM49_uc010woh.1_Intron|TMEM49_uc010woi.1_Missense_Mutation_p.M96I|TMEM49_uc010woj.1_Missense_Mutation_p.M59I NM_030938 NP_112200 Q96GC9 VMP1_HUMAN transmembrane protein 49 193 Extracellular (Potential). autophagy|cell adhesion endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;1.15e-09)|all cancers(12;1.15e-08) AAGCCTGCATGTGGGTAAGAT 0.373 24 52 --- --- --- --- PASS TEX2 55852 broad.mit.edu 37 17 62265629 62265629 + Missense_Mutation SNP C T T rs149542859 TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:62265629C>T uc002jec.2 - 5 2496 c.2323G>A c.(2323-2325)GAC>AAC p.D775N TEX2_uc002jed.2_Missense_Mutation_p.D782N|TEX2_uc002jee.2_Missense_Mutation_p.D775N NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 775 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ACGCTGTAGTCGAGAAGCATC 0.622 4 102 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65156379 65156379 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:65156379G>C uc010wqk.1 - 17 2365 c.2178C>G c.(2176-2178)CTC>CTG p.L726L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L725L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AAAAATACCTGAGAGGTCTTG 0.338 4 54 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65184632 65184632 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:65184632G>A uc010wqk.1 - 12 1152 c.965C>T c.(964-966)TCA>TTA p.S322L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.S322L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) GACTTCTTGTGATACCTGGGT 0.408 11 306 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73489113 73489113 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:73489113C>G uc002jnz.3 + 16 2291 c.2016C>G c.(2014-2016)CTC>CTG p.L672L KIAA0195_uc010wsa.1_Silent_p.L682L|KIAA0195_uc010wsb.1_Silent_p.L312L|KIAA0195_uc002job.3_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 672 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGGGCGGCTCTCCTGTGTCA 0.607 17 59 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77075610 77075610 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr17:77075610C>G uc002jwv.2 + 4 464 c.456C>G c.(454-456)TTC>TTG p.F152L ENGASE_uc002jwu.1_Missense_Mutation_p.F152L|ENGASE_uc010wtz.1_Intron|ENGASE_uc002jww.2_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 152 F -> L (in Ref. 2; BAB15158). cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 CCTATGCTTTCTACCACTGGC 0.453 18 211 --- --- --- --- PASS CETN1 1068 broad.mit.edu 37 18 580595 580595 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:580595G>A uc002kko.1 + 1 229 c.187G>A c.(187-189)GAA>AAA p.E63K NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 63 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 GCTGGGCTTCGAACCCAGGAA 0.552 7 59 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6975960 6975960 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:6975960G>A uc002knm.2 - 45 6559 c.6465C>T c.(6463-6465)CTC>CTT p.L2155L LAMA1_uc010wzj.1_Silent_p.L1631L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2155 Laminin G-like 1. 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) CGAGGTAGAAGAGAAGATTAT 0.418 4 139 --- --- --- --- PASS MOCOS 55034 broad.mit.edu 37 18 33775227 33775227 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:33775227C>G uc002kzq.3 + 2 173 c.150C>G c.(148-150)GTC>GTG p.V50V NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 50 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CAGGAACTGTCTATCTTGACC 0.368 3 160 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44560278 44560278 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:44560278G>A uc002lcr.1 - 1 1711 c.1358C>T c.(1357-1359)ACG>ATG p.T453M KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 453 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCTGGGCACCGTTTTCGGCCC 0.602 16 117 --- --- --- --- PASS ACAA2 10449 broad.mit.edu 37 18 47323859 47323859 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:47323859G>C uc002ldw.3 - 3 686 c.289C>G c.(289-291)CAG>GAG p.Q97E ACAA2_uc002ldx.3_Missense_Mutation_p.Q94E NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 97 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 ACAATGGACTGAAAACCAGAA 0.388 6 147 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61325788 61325788 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:61325788C>G uc002ljg.2 - 4 454 c.428G>C c.(427-429)AGT>ACT p.S143T SERPINB3_uc002lji.2_Missense_Mutation_p.S143T|SERPINB3_uc010dqa.2_Missense_Mutation_p.S143T|SERPINB3_uc010dqb.2_3'UTR P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 143 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 CTTCTTTCGACTTTCTTCTGG 0.398 6 80 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63491903 63491903 + Nonsense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:63491903G>T uc002ljz.2 + 6 1142 c.817G>T c.(817-819)GAG>TAG p.E273* CDH7_uc002lka.2_Nonsense_Mutation_p.E273*|CDH7_uc002lkb.2_Nonsense_Mutation_p.E273* NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 273 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) TAACGTCCCAGAGTCATTACC 0.383 4 87 --- --- --- --- PASS CCDC102B 79839 broad.mit.edu 37 18 66504390 66504390 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr18:66504390G>T uc002lkk.2 + 4 613 c.390G>T c.(388-390)GCG>GCT p.A130A CCDC102B_uc002lki.2_Silent_p.A130A|CCDC102B_uc002lkj.1_Silent_p.A130A NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 130 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) TAGAGATGGCGATGAAAGAAT 0.448 16 76 --- --- --- --- PASS APC2 10297 broad.mit.edu 37 19 1453249 1453249 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:1453249G>A uc002lsr.1 + 3 353 c.145G>A c.(145-147)GTC>ATC p.V49I APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.V49I|APC2_uc002lsu.1_Missense_Mutation_p.V49I NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 49 Potential. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|pancreas(1) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCAGGAGGTCCTGAAGCA 0.682 3 6 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072935 9072935 + Silent SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:9072935G>T uc002mkp.2 - 3 14715 c.14511C>A c.(14509-14511)ACC>ACA p.T4837T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4839 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 CTGAACCGGTGGTCCCCACAT 0.463 16 100 --- --- --- --- PASS ZNF266 10781 broad.mit.edu 37 19 9525174 9525174 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:9525174C>G uc002mll.2 - 4 693 c.427G>C c.(427-429)GAT>CAT p.D143H ZNF266_uc002mlm.2_Missense_Mutation_p.D143H|ZNF266_uc002mln.2_Missense_Mutation_p.D143H|ZNF266_uc002mlo.2_Missense_Mutation_p.D143H|ZNF266_uc010dwp.2_Missense_Mutation_p.D143H|ZNF266_uc010dwq.2_Missense_Mutation_p.D143H NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAAACAACATCTGGGTTCAGG 0.438 3 128 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10073506 10073506 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:10073506G>C uc002mmq.1 - 65 4926 c.4840C>G c.(4840-4842)CGA>GGA p.R1614G NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1614 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) TTCTTCCCTCGACGGAATGTG 0.547 3 30 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17477002 17477002 + Silent SNP G A A rs138246020 TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:17477002G>A uc002ngk.1 - 2 422 c.372C>T c.(370-372)GTC>GTT p.V124V NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 124 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 TCGTGTAGATGACCTGCCCGG 0.542 6 210 --- --- --- --- PASS TSSK6 83983 broad.mit.edu 37 19 19626179 19626179 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:19626179C>G uc002nmr.2 - 1 291 c.58G>C c.(58-60)GAG>CAG p.E20Q TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 20 ATP (By similarity).|Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 TAGCTGCCCTCTCCAATTGTG 0.632 5 99 --- --- --- --- PASS ZNF506 440515 broad.mit.edu 37 19 19905854 19905854 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:19905854C>G uc010eci.2 - 4 990 c.842G>C c.(841-843)GGA>GCA p.G281A ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.G249A NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 TGGTTTCTCTCCAGTATGAAT 0.368 3 51 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23543988 23543988 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:23543988C>A uc002nre.2 - 4 1906 c.1793G>T c.(1792-1794)GGA>GTA p.G598V ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G566V NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 598 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGACTTCTCTCCAGTATGAAT 0.363 8 55 --- --- --- --- PASS TYROBP 7305 broad.mit.edu 37 19 36398144 36398144 + Missense_Mutation SNP G C C rs151172291 byFrequency TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:36398144G>C uc002ocm.2 - 4 308 c.252C>G c.(250-252)ATC>ATG p.I84M TYROBP_uc002ocn.2_Missense_Mutation_p.I83M NM_003332 NP_003323 O43914 TYOBP_HUMAN TYRO protein tyrosine kinase binding protein 84 Cytoplasmic (Potential). axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response integral to plasma membrane|intracellular identical protein binding|receptor signaling protein activity 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGTCTCAGTGATACGCTGTT 0.537 4 34 --- --- --- --- PASS HKR1 284459 broad.mit.edu 37 19 37853479 37853479 + Missense_Mutation SNP T C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:37853479T>C uc002ogb.2 + 6 1051 c.782T>C c.(781-783)CTT>CCT p.L261P HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.L243P|HKR1_uc010xto.1_Missense_Mutation_p.L243P|HKR1_uc002ogc.2_Missense_Mutation_p.L242P|HKR1_uc010xtp.1_Missense_Mutation_p.L200P|HKR1_uc002ogd.2_Missense_Mutation_p.L200P NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 261 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCAAACCTCCTTAGCCTCCAG 0.448 7 74 --- --- --- --- PASS CD79A 973 broad.mit.edu 37 19 42383185 42383185 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:42383185G>A uc002orv.2 + 2 390 c.205G>A c.(205-207)GTC>ATC p.V69I CD79A_uc002oru.2_Missense_Mutation_p.V69I NM_001783 NP_001774 P11912 CD79A_HUMAN CD79A antigen isoform 1 precursor 69 Ig-like C2-type.|Extracellular (Potential). V -> I (in Ref. 3; AAA60270). B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity ovary(2)|pancreas(1) 3 CTGGTGGCGCGTCCTCCATGG 0.602 O|S DLBCL 22 91 --- --- --- --- PASS ATP1A3 478 broad.mit.edu 37 19 42492696 42492696 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:42492696C>G uc002osg.2 - 2 179 c.25G>C c.(25-27)GAC>CAC p.D9H ATP1A3_uc010xwf.1_Missense_Mutation_p.D20H|ATP1A3_uc010xwg.1_5'UTR|ATP1A3_uc010xwh.1_Missense_Mutation_p.D22H|ATP1A3_uc002osh.2_Missense_Mutation_p.D9H NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 9 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TTGGGTGAGTCCTTGTCATCT 0.612 19 226 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49637913 49637913 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:49637913G>C uc002pmr.2 + 12 1727 c.1395G>C c.(1393-1395)GAG>GAC p.E465D PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.E389D|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.E333D NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 465 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TGAGCGAGGAGATAGCCAACA 0.602 4 165 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51917069 51917069 + Missense_Mutation SNP A C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:51917069A>C uc002pwo.2 - 10 2334 c.1718T>G c.(1717-1719)ATT>AGT p.I573S SIGLEC10_uc002pwp.2_Missense_Mutation_p.I515S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.I420S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.I478S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.I388S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.I430S|SIGLEC10_uc010eow.2_Missense_Mutation_p.I290S|SIGLEC10_uc002pws.1_Missense_Mutation_p.I314S NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 573 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CTTCGGTAGAATCTTCATGCT 0.443 9 70 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52618120 52618120 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:52618120C>G uc002pym.2 - 4 2580 c.2297G>C c.(2296-2298)AGA>ACA p.R766T ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 766 C2H2-type 21. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TCCAGTATGTCTTATTCGATG 0.368 5 107 --- --- --- --- PASS ZNF528 84436 broad.mit.edu 37 19 52919907 52919907 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:52919907G>C uc002pzh.2 + 7 2228 c.1802G>C c.(1801-1803)GGA>GCA p.G601A ZNF528_uc002pzi.2_Missense_Mutation_p.G368A NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) ATTCACATTGGAGAGAAACCT 0.418 4 99 --- --- --- --- PASS LAIR1 3903 broad.mit.edu 37 19 54867877 54867877 + Splice_Site SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:54867877C>A uc002qfk.1 - 8 937 c.627_splice c.e8-1 p.R209_splice LAIR1_uc002qfl.1_Splice_Site_p.R192_splice|LAIR1_uc002qfm.1_Splice_Site_p.R208_splice|LAIR1_uc002qfn.1_Splice_Site_p.R191_splice|LAIR1_uc010yex.1_Splice_Site_p.R202_splice|LAIR1_uc002qfo.2_Splice_Site_p.R191_splice NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CAGGTCAGGCCTAAGAGGAAA 0.597 14 50 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56320725 56320725 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:56320725G>C uc010ygf.1 - 5 1962 c.1251C>G c.(1249-1251)CTC>CTG p.L417L NLRP11_uc002qlz.2_Silent_p.L318L|NLRP11_uc002qmb.2_Silent_p.L318L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 417 NACHT. ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAACACATCTGAGGTCTTCAC 0.468 3 99 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326512 57326512 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:57326512C>A uc002qnu.2 - 7 3649 c.3298G>T c.(3298-3300)GAT>TAT p.D1100Y ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D1071Y|PEG3_uc002qnv.2_Missense_Mutation_p.D1100Y|PEG3_uc002qnw.2_Missense_Mutation_p.D976Y|PEG3_uc002qnx.2_Missense_Mutation_p.D974Y|PEG3_uc010etr.2_Missense_Mutation_p.D1100Y NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1100 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCAGGGTCATCCTTCTGAGGG 0.512 13 141 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326513 57326513 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:57326513C>A uc002qnu.2 - 7 3648 c.3297G>T c.(3295-3297)AAG>AAT p.K1099N ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K1070N|PEG3_uc002qnv.2_Missense_Mutation_p.K1099N|PEG3_uc002qnw.2_Missense_Mutation_p.K975N|PEG3_uc002qnx.2_Missense_Mutation_p.K973N|PEG3_uc010etr.2_Missense_Mutation_p.K1099N NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1099 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CAGGGTCATCCTTCTGAGGGT 0.507 14 138 --- --- --- --- PASS ZNF324 25799 broad.mit.edu 37 19 58982276 58982276 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr19:58982276G>C uc002qsw.1 + 4 511 c.417G>C c.(415-417)GTG>GTC p.V139V ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCACGGGGGTGTCGGTGATCT 0.637 6 144 --- --- --- --- PASS NRSN2 80023 broad.mit.edu 37 20 334113 334113 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:334113C>T uc002wdi.3 + 4 987 c.449C>T c.(448-450)CCC>CTC p.P150L NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron NM_024958 NP_079234 Q9GZP1 NRSN2_HUMAN neurensin 2 150 integral to membrane|plasma membrane|transport vesicle 0 all_cancers(10;0.0834) AAGGCAGAGCCCTTGGACCCC 0.617 7 85 --- --- --- --- PASS C20orf94 128710 broad.mit.edu 37 20 10602001 10602001 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:10602001G>C uc010zre.1 + 7 625 c.445G>C c.(445-447)GAG>CAG p.E149Q NM_001009608 NP_001009608 Q5VYV7 CT094_HUMAN hypothetical protein LOC128710 149 protein binding 0 TTACTTTGCTGAGTGTGCAGA 0.408 4 53 --- --- --- --- PASS ASXL1 171023 broad.mit.edu 37 20 31024034 31024034 + Missense_Mutation SNP G C C rs117901891 byFrequency TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:31024034G>C uc002wxs.2 + 12 3945 c.3519G>C c.(3517-3519)TTG>TTC p.L1173F ASXL1_uc010geb.2_Missense_Mutation_p.L1064F NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 1173 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 TAAGGGCTTTGAAGGAGCCTC 0.527 F|N|Mis MDS|CMML 8 111 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31590668 31590668 + Missense_Mutation SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:31590668C>T uc002wyi.2 - 2 228 c.135G>A c.(133-135)ATG>ATA p.M45I NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 45 spermatogenesis skin(1) 1 CTTGCTCACTCATGTTTGGGG 0.353 7 80 --- --- --- --- PASS C20orf71 128861 broad.mit.edu 37 20 31814288 31814288 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:31814288G>C uc002wyr.2 + 5 821 c.613G>C c.(613-615)GAA>CAA p.E205Q C20orf71_uc002wys.2_Missense_Mutation_p.E169Q NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 205 extracellular region lipid binding ovary(1)|skin(1) 2 ACACATGGTAGAAAGTCAGGT 0.378 5 69 --- --- --- --- PASS PXMP4 11264 broad.mit.edu 37 20 32295600 32295600 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:32295600G>T uc002wzv.2 - 4 674 c.551C>A c.(550-552)TCC>TAC p.S184Y PXMP4_uc002wzw.2_3'UTR|PXMP4_uc010zuh.1_3'UTR NM_007238 NP_009169 Q9Y6I8 PXMP4_HUMAN peroxisomal membrane protein 4 isoform a 184 integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane protein transporter activity 0 GGTCATGGAGGACTGCAGCGA 0.582 24 174 --- --- --- --- PASS ZNF341 84905 broad.mit.edu 37 20 32336822 32336822 + Missense_Mutation SNP A T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:32336822A>T uc002wzy.2 + 4 453 c.433A>T c.(433-435)ATG>TTG p.M145L ZNF341_uc002wzx.2_Missense_Mutation_p.M145L|ZNF341_uc010geq.2_Missense_Mutation_p.M55L|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 145 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CATGTCTGCCATGTCAGCCTT 0.587 17 87 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:33345744C>T uc002xav.2 - 8 3378 c.807G>A c.(805-807)CAG>CAA p.Q269Q NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 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 gctgctgctgctgttgttgtt 0.313 4 71 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33596469 33596469 + Silent SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:33596469G>A uc002xbk.2 - 13 1627 c.1593C>T c.(1591-1593)TTC>TTT p.F531F TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Silent_p.F122F|TRPC4AP_uc002xbl.2_Silent_p.F523F|TRPC4AP_uc010zur.1_Silent_p.F492F|TRPC4AP_uc002xbm.1_Silent_p.F531F NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 531 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGACTCACCTGAAAGACGACT 0.512 9 139 --- --- --- --- PASS MANBAL 63905 broad.mit.edu 37 20 35929762 35929762 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:35929762C>G uc002xgu.2 + 3 308 c.96C>G c.(94-96)TTC>TTG p.F32L MANBAL_uc002xgv.2_Missense_Mutation_p.F32L|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA NM_022077 NP_071360 Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 32 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(115;0.00878) GAGCCATCTTCCAGCTCATCT 0.607 6 129 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37518254 37518254 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:37518254G>C uc002xje.2 + 3 456 c.267G>C c.(265-267)AAG>AAC p.K89N PPP1R16B_uc010ggc.2_Missense_Mutation_p.K89N NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 89 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) ACTTCCTGAAGAATAAGGTCA 0.607 8 334 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44666022 44666022 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:44666022C>T uc010zxl.1 + 6 755 c.679C>T c.(679-681)CTG>TTG p.L227L SLC12A5_uc002xra.2_Silent_p.L204L|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.L204L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 227 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CGAAATCCTGCTGGTAAGAGA 0.423 3 52 --- --- --- --- PASS ARFGEF2 10564 broad.mit.edu 37 20 47611021 47611021 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:47611021C>G uc002xtx.3 + 22 3159 c.3007C>G c.(3007-3009)CAG>GAG p.Q1003E ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q296E NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1003 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGAGCTCGCTCAGCTGATAGG 0.493 4 112 --- --- --- --- PASS C20orf200 253868 broad.mit.edu 37 20 61143831 61143831 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr20:61143831G>C uc002ycz.1 - 3 508 c.17C>G c.(16-18)ACA>AGA p.T6R C20orf200_uc002ycy.2_RNA NM_152757 NP_689970 hypothetical protein LOC253868 0 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) GAGGTGCCCTGTGGCCAGAGT 0.662 10 137 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15561661 15561661 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:15561661C>A uc002yjm.2 - 2 199 c.189G>T c.(187-189)GAG>GAT p.E63D LIPI_uc010gkw.1_5'UTR NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 42 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TCAGAATGGTCTCTATTCTCG 0.328 11 94 --- --- --- --- PASS NRIP1 8204 broad.mit.edu 37 21 16337172 16337172 + Silent SNP C T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:16337172C>T uc002yjx.2 - 4 3940 c.3342G>A c.(3340-3342)ACG>ACA p.T1114T NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 1114 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AAGAAGCTTTCGTTTCTGCAG 0.438 9 121 --- --- --- --- PASS ITSN1 6453 broad.mit.edu 37 21 35172220 35172220 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:35172220G>C uc002yta.1 + 19 2559 c.2291G>C c.(2290-2292)GGA>GCA p.G764A DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G764A|ITSN1_uc010gmg.2_Missense_Mutation_p.G727A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G764A|ITSN1_uc010gmi.2_Missense_Mutation_p.G727A|ITSN1_uc010gmj.2_Missense_Mutation_p.G648A|ITSN1_uc002ysy.2_Missense_Mutation_p.G764A|ITSN1_uc002ysx.2_Missense_Mutation_p.G727A|ITSN1_uc002ytb.1_Missense_Mutation_p.G764A|ITSN1_uc002ytc.1_Missense_Mutation_p.G764A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G727A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G764A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G698A|ITSN1_uc002ytf.1_5'Flank NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 764 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 ATCCAGCCAGGAGACATAGTC 0.413 3 121 --- --- --- --- PASS ZNF295 49854 broad.mit.edu 37 21 43411868 43411868 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:43411868C>A uc002zab.3 - 3 2551 c.2337G>T c.(2335-2337)GAG>GAT p.E779D ZNF295_uc002yzz.3_Missense_Mutation_p.E578D|ZNF295_uc002yzy.3_Missense_Mutation_p.E779D|ZNF295_uc002zaa.3_Missense_Mutation_p.E779D NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 779 C2H2-type 5. 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 TGCGCATGCACTCGAGGCAGG 0.537 31 217 --- --- --- --- PASS ZNF295 49854 broad.mit.edu 37 21 43411872 43411872 + Missense_Mutation SNP A C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:43411872A>C uc002zab.3 - 3 2547 c.2333T>G c.(2332-2334)CTC>CGC p.L778R ZNF295_uc002yzz.3_Missense_Mutation_p.L577R|ZNF295_uc002yzy.3_Missense_Mutation_p.L778R|ZNF295_uc002zaa.3_Missense_Mutation_p.L778R NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 778 C2H2-type 5. negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding p.L778F(1) ovary(1)|central_nervous_system(1)|skin(1) 3 CATGCACTCGAGGCAGGTCAG 0.532 32 230 --- --- --- --- PASS KRTAP10-5 386680 broad.mit.edu 37 21 45999956 45999956 + Missense_Mutation SNP G T T rs117046341 by1000genomes TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr21:45999956G>T uc002zfl.1 - 1 526 c.500C>A c.(499-501)CCC>CAC p.P167H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 167 22 X 5 AA repeats of C-C-X(3). keratin filament 0 CTGCTGGCAGGGGGAGGAGGT 0.597 12 218 --- --- --- --- PASS ZNF280B 140883 broad.mit.edu 37 22 22843402 22843402 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr22:22843402C>G uc002zwc.1 - 4 1098 c.322G>C c.(322-324)GAA>CAA p.E108Q LOC96610_uc011aim.1_Intron NM_080764 NP_542942 Q86YH2 Z280B_HUMAN zinc finger protein 280B 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GATCTCGATTCAAGTTGGGAA 0.398 4 153 --- --- --- --- PASS LIMK2 3985 broad.mit.edu 37 22 31667137 31667137 + Missense_Mutation SNP A G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr22:31667137A>G uc003akh.2 + 12 1478 c.1333A>G c.(1333-1335)ATG>GTG p.M445V LIMK2_uc003akg.2_Missense_Mutation_p.M362V|LIMK2_uc003aki.2_Missense_Mutation_p.M199V|LIMK2_uc003akj.2_Missense_Mutation_p.M424V|LIMK2_uc003akk.2_Missense_Mutation_p.M424V|LIMK2_uc011aln.1_Missense_Mutation_p.M362V NM_005569 NP_005560 P53671 LIMK2_HUMAN LIM domain kinase 2 isoform 2a 445 Protein kinase. mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding ovary(2) 2 TTTGCACTCTATGTGCATCAT 0.547 3 94 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42049691 42049691 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr22:42049691C>G uc003bao.1 + 9 1358 c.1288C>G c.(1288-1290)CCA>GCA p.P430A XRCC6_uc003bap.1_Missense_Mutation_p.P389A|XRCC6_uc011apc.1_Missense_Mutation_p.P380A|XRCC6_uc003baq.1_Missense_Mutation_p.P430A|XRCC6_uc003bar.1_Missense_Mutation_p.P430A|XRCC6_uc003bas.1_Missense_Mutation_p.P380A NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 430 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 GGTGACTCCTCCAGGTATGTG 0.294 Direct_reversal_of_damage|NHEJ 5 77 --- --- --- --- PASS RPL23AP82 284942 broad.mit.edu 37 22 51237496 51237496 + RNA SNP C T T rs145825199 byFrequency TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chr22:51237496C>T uc003bni.2 + 4 c.951C>T RPL23AP82_uc003bns.2_RNA|RPL23AP82_uc010hbj.2_RNA NR_026981 Homo sapiens cDNA FLJ75396 complete cds. 0 GGCATATGTTCGACTTGCTCC 0.433 11 115 --- --- --- --- PASS DHRSX 207063 broad.mit.edu 37 X 2209583 2209583 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:2209583G>C uc004cqf.3 - 4 397 c.348C>G c.(346-348)TTC>TTG p.F116L NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 116 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TCTTCATCTTGAACTTCTGCA 0.423 4 283 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32360357 32360357 + Missense_Mutation SNP C A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:32360357C>A uc004dda.1 - 41 6026 c.5782G>T c.(5782-5784)GCA>TCA p.A1928S DMD_uc004dcw.2_Missense_Mutation_p.A584S|DMD_uc004dcx.2_Missense_Mutation_p.A587S|DMD_uc004dcz.2_Missense_Mutation_p.A1805S|DMD_uc004dcy.1_Missense_Mutation_p.A1924S|DMD_uc004ddb.1_Missense_Mutation_p.A1920S|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1928 Spectrin 13. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTACGCACTGCATTCAGCTCC 0.527 6 37 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028984 37028984 + Missense_Mutation SNP G T T TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:37028984G>T uc004ddl.1 + 1 2515 c.2501G>T c.(2500-2502)AGC>ATC p.S834I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 834 ovary(3) 3 GGTACATCAAGCACAATGGAG 0.512 32 62 --- --- --- --- PASS P2RY10 27334 broad.mit.edu 37 X 78216921 78216921 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:78216921C>G uc004ede.2 + 4 1273 c.904C>G c.(904-906)CCA>GCA p.P302A P2RY10_uc004edf.2_Missense_Mutation_p.P302A NM_014499 NP_055314 O00398 P2Y10_HUMAN G-protein coupled purinergic receptor P2Y10 302 Helical; Name=7; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(2)|breast(1) 5 CCTTTTGGATCCAATTCTTTA 0.493 7 186 --- --- --- --- PASS TBC1D8B 54885 broad.mit.edu 37 X 106065219 106065219 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:106065219G>A uc004emo.2 + 4 538 c.373G>A c.(373-375)GAA>AAA p.E125K MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.E125K|TBC1D8B_uc004emn.2_Missense_Mutation_p.E125K NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 125 intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 ATTAATTGCTGAAGAGGGAAA 0.308 12 37 --- --- --- --- PASS PLS3 5358 broad.mit.edu 37 X 114871183 114871183 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:114871183G>C uc004eqd.2 + 8 1174 c.784G>C c.(784-786)GAG>CAG p.E262Q PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.E240Q|PLS3_uc004eqe.2_Missense_Mutation_p.E262Q|PLS3_uc011mtg.1_Missense_Mutation_p.E235Q|PLS3_uc011mth.1_Missense_Mutation_p.E217Q NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 262 Actin-binding 1. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 TGAGACTTTGGAGGAACTTAT 0.383 12 122 --- --- --- --- PASS PLS3 5358 broad.mit.edu 37 X 114871194 114871194 + Missense_Mutation SNP G A A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:114871194G>A uc004eqd.2 + 8 1185 c.795G>A c.(793-795)ATG>ATA p.M265I PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.M243I|PLS3_uc004eqe.2_Missense_Mutation_p.M265I|PLS3_uc011mtg.1_Missense_Mutation_p.M238I|PLS3_uc011mth.1_Missense_Mutation_p.M220I NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 265 Actin-binding 1. cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 AGGAACTTATGAAATTGTCTC 0.378 14 127 --- --- --- --- PASS GLUD2 2747 broad.mit.edu 37 X 120182952 120182952 + Missense_Mutation SNP G C C rs10657 TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:120182952G>C uc004eto.2 + 1 1491 c.1414G>C c.(1414-1416)GAG>CAG p.E472Q NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 472 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GTCTGTTCAAGAGAGTTTAGA 0.413 6 106 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140996143 140996143 + Missense_Mutation SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:140996143G>C uc004fbt.2 + 4 3239 c.2953G>C c.(2953-2955)GAG>CAG p.E985Q MAGEC1_uc010nsl.1_Missense_Mutation_p.E52Q NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 985 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CCTCACCTCTGAGGGGTGTCT 0.478 HNSCC(15;0.026) 5 141 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140996154 140996154 + Silent SNP G C C TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:140996154G>C uc004fbt.2 + 4 3250 c.2964G>C c.(2962-2964)CTG>CTC p.L988L MAGEC1_uc010nsl.1_Silent_p.L55L NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 988 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGTGTCTGAGTGATGAGC 0.473 HNSCC(15;0.026) 4 135 --- --- --- --- PASS MAGEA1 4100 broad.mit.edu 37 X 152483001 152483001 + Missense_Mutation SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrX:152483001C>G uc004fhf.2 - 3 230 c.10G>C c.(10-12)GAG>CAG p.E4Q NM_004988 NP_004979 P43355 MAGA1_HUMAN melanoma antigen family A, 1 4 cytoplasm|plasma membrane central_nervous_system(7)|ovary(1)|lung(1)|breast(1) 10 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTGCTCAAGAGACATG 0.622 3 63 --- --- --- --- PASS KDM5D 8284 broad.mit.edu 37 Y 21868202 21868202 + Silent SNP C G G TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f60928ab-0cb1-4483-8d61-48a5333defbf b9e3b052-5531-4156-ac06-d84a6e43924a g.chrY:21868202C>G uc004fug.2 - 27 4587 c.4299G>C c.(4297-4299)CGG>CGC p.R1433R KDM5D_uc011naz.1_Silent_p.R1464R|KDM5D_uc010nwy.2_Silent_p.R1376R|KDM5D_uc004fuf.2_Silent_p.R608R NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 1433 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) GGCTCCTTGTCCGACTCCCTT 0.537 2 4 --- --- --- --- PASS