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 VPS13D 55187 broad.mit.edu 37 1 12463963 12463963 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:12463963A>T uc001atv.2 + 63 12108 c.11967A>T c.(11965-11967)AAA>AAT p.K3989N VPS13D_uc001atw.2_Missense_Mutation_p.K3964N|VPS13D_uc001atx.2_Missense_Mutation_p.K3176N|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3988 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAAATCTCAAAATCAGCATTC 0.388 46 24 --- --- --- --- PASS PADI3 51702 broad.mit.edu 37 1 17603149 17603149 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:17603149C>G uc001bai.2 + 12 1483 c.1443C>G c.(1441-1443)CCC>CCG p.P481P NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 481 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(1)|breast(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TCCCTGCCCCCGATGGGAAGG 0.597 59 22 --- --- --- --- PASS USP48 84196 broad.mit.edu 37 1 22079070 22079070 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:22079070C>T uc001bfb.2 - 5 853 c.615G>A c.(613-615)GTG>GTA p.V205V USP48_uc010odq.1_Silent_p.V205V|USP48_uc009vqc.2_Silent_p.V205V|USP48_uc001bfc.2_Silent_p.V205V|USP48_uc001bfe.1_Silent_p.V205V|USP48_uc001bff.2_Silent_p.V205V NM_032236 NP_115612 Q86UV5 UBP48_HUMAN ubiquitin specific protease 48 isoform a 205 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1) 2 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CAATATTGCGCACATCTGGAT 0.338 25 12 --- --- --- --- PASS CELA3A 10136 broad.mit.edu 37 1 22329556 22329556 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:22329556C>T uc001bfl.2 + 2 123 c.104C>T c.(103-105)GCG>GTG p.A35V CELA3B_uc009vqf.2_Intron NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 35 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 GGTGAGGATGCGGTCCCCTAC 0.612 4 96 --- --- --- --- PASS MAN1C1 57134 broad.mit.edu 37 1 25944443 25944443 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:25944443T>A uc001bkm.2 + 1 485 c.155T>A c.(154-156)CTC>CAC p.L52H MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 52 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) CTCAAGCGCCTCTTCCTGGCC 0.662 10 38 --- --- --- --- PASS KIAA1522 57648 broad.mit.edu 37 1 33237497 33237497 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:33237497C>T uc001bvv.2 + 6 2676 c.2540C>T c.(2539-2541)TCG>TTG p.S847L KIAA1522_uc001bvu.1_Missense_Mutation_p.S906L|KIAA1522_uc010ohm.1_Missense_Mutation_p.S858L|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 847 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTGGGGCCATCGGCCCCCCAG 0.721 16 10 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34033226 34033226 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:34033226G>T uc001bxn.1 - 54 8307 c.8278C>A c.(8278-8280)CAT>AAT p.H2760N CSMD2_uc001bxm.1_Missense_Mutation_p.H2783N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2760 Sushi 18.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GACCAGTGATGATCCTGCTGG 0.542 44 15 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36932199 36932199 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:36932199C>T uc001caw.1 - 17 2448 c.2270G>A c.(2269-2271)GGC>GAC p.G757D MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.G319D|CSF3R_uc009vvc.1_Missense_Mutation_p.G286D|CSF3R_uc001cau.1_Missense_Mutation_p.G157D|CSF3R_uc001cav.1_Intron|CSF3R_uc001cax.1_Missense_Mutation_p.G784D|CSF3R_uc001cay.1_Missense_Mutation_p.A726T NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 757 Cytoplasmic (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TGTGGGGCTGCCCAGCAGCTG 0.637 17 10 --- --- --- --- PASS SLC5A9 200010 broad.mit.edu 37 1 48708225 48708225 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:48708225G>T uc001cro.2 + 13 1826 c.1774G>T c.(1774-1776)GGG>TGG p.G592W SLC5A9_uc001crn.2_Missense_Mutation_p.G617W|SLC5A9_uc010omt.1_Missense_Mutation_p.G606W|SLC5A9_uc001crp.2_Missense_Mutation_p.G259W|SLC5A9_uc010omu.1_Missense_Mutation_p.G259W|SLC5A9_uc009vyt.1_RNA NM_001011547 NP_001011547 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/glucose 592 Cytoplasmic (Potential). integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity ovary(3) 3 GAGGCCAGCCGGGGAGTGCCC 0.657 37 18 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62739203 62739203 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:62739203C>A uc001dah.3 - 3 1950 c.1573G>T c.(1573-1575)GGC>TGC p.G525C KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 525 ovary(3)|skin(2)|lung(1) 6 CTGTCGCTGCCCCACAGAAAG 0.602 41 19 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66075935 66075935 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:66075935G>C uc001dci.2 + 14 2153 c.1951G>C c.(1951-1953)GGA>CGA p.G651R LEPR_uc001dcg.2_Missense_Mutation_p.G651R|LEPR_uc001dch.2_Missense_Mutation_p.G651R|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G651R|LEPR_uc001dck.2_Missense_Mutation_p.G651R NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 651 Extracellular (Potential).|Fibronectin type-III 3. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AATAATTAATGGAGATACTAT 0.269 32 17 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67147875 67147875 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:67147875C>A uc001dcr.2 + 15 1355 c.1138C>A c.(1138-1140)CAG>AAG p.Q380K SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.Q147K NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 380 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 AGAAGAAGTCCAGAAGAAAGT 0.537 111 61 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86203190 86203190 + Splice_Site SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:86203190T>A uc001dlj.2 - 58 4715 c.4673_splice c.e58-1 p.G1558_splice COL24A1_uc001dli.2_Splice_Site_p.G673_splice|COL24A1_uc010osd.1_Splice_Site_p.G858_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Intron NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) AGTATTTTCCTAATAATTTAT 0.274 4 6 --- --- --- --- PASS GBP4 115361 broad.mit.edu 37 1 89652768 89652768 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:89652768C>T uc001dnb.2 - 9 1544 c.1428G>A c.(1426-1428)CAG>CAA p.Q476Q NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 476 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) GCAGGAAGTTCTGGAGGACCT 0.502 57 24 --- --- --- --- PASS GFI1 2672 broad.mit.edu 37 1 92946204 92946204 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:92946204C>A uc001dou.3 - 4 904 c.740G>T c.(739-741)CGC>CTC p.R247L GFI1_uc001dov.3_Missense_Mutation_p.R247L|GFI1_uc001dow.3_Missense_Mutation_p.R247L NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 247 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) CAGCAGCAGGCGGGTGCACAG 0.706 8 5 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103404590 103404590 + Splice_Site SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:103404590C>A uc001dul.2 - 44 3756 c.3438_splice c.e44+1 p.N1146_splice COL11A1_uc001duk.2_Splice_Site_p.N342_splice|COL11A1_uc001dum.2_Splice_Site_p.N1158_splice|COL11A1_uc001dun.2_Splice_Site_p.N1107_splice|COL11A1_uc009weh.2_Splice_Site_p.N1030_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGAAACTCACATTTTCTCCC 0.343 52 34 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114354958 114354958 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:114354958C>T uc001edq.2 - 1 113 c.77G>A c.(76-78)CGG>CAG p.R26Q RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 26 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAGCGCCGCCCGCGCACTGCC 0.652 34 9 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120050171 120050171 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:120050171G>A uc001ehv.1 + 2 217 c.72G>A c.(70-72)GTG>GTA p.V24V HSD3B1_uc001ehw.2_Silent_p.V26V NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 24 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) GCCTCTTGGTGAAGGAGAAGG 0.522 60 29 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120612002 120612002 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:120612002C>G uc001eik.2 - 1 275 c.19G>C c.(19-21)GCT>CCT p.A7P NOTCH2_uc001eil.2_Missense_Mutation_p.A7P|NOTCH2_uc001eim.3_5'UTR NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 7 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CACAGCAGAGCGGGGCGCAGG 0.667 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 3 15 --- --- --- --- PASS FCGR1B 2210 broad.mit.edu 37 1 120927180 120927180 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:120927180A>T uc001eip.2 - 5 850 c.800T>A c.(799-801)CTG>CAG p.L267Q FCGR1B_uc001eiq.2_Missense_Mutation_p.L175Q|FCGR1B_uc010oxl.1_RNA NM_001017986 NP_001017986 Q92637 FCGRB_HUMAN Fc fragment of IgG, high affinity Ib, receptor 267 Cytoplasmic (Potential). interferon-gamma-mediated signaling pathway integral to membrane|plasma membrane IgG binding|immunoglobulin receptor activity 0 all_neural(166;0.181) all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068) Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19) CCCTTCCTGCAGCTGTTCTTC 0.537 29 19 --- --- --- --- PASS LCE2B 26239 broad.mit.edu 37 1 152659444 152659444 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:152659444C>T uc001fai.2 + 2 179 c.125C>T c.(124-126)CCT>CTT p.P42L NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 42 Pro-rich.|Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTCCCCTGCAGTCTCT 0.627 111 176 --- --- --- --- PASS LCE4A 199834 broad.mit.edu 37 1 152681816 152681816 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:152681816G>T uc001fak.2 + 1 294 c.265G>T c.(265-267)GGT>TGT p.G89C NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN late cornified envelope 4A 89 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) GCAGTCTGGGGGTTCTGGCTG 0.597 25 47 --- --- --- --- PASS NPR1 4881 broad.mit.edu 37 1 153661941 153661941 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:153661941C>G uc001fcs.3 + 18 3122 c.2701C>G c.(2701-2703)CTC>GTC p.L901V NPR1_uc010pdz.1_Missense_Mutation_p.L647V|NPR1_uc010pea.1_Missense_Mutation_p.L379V NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 901 Guanylate cyclase.|Cytoplasmic (Potential). body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity ovary(3)|lung(2)|stomach(1)|breast(1) 7 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GGTGACCCTGCTCAATGACCT 0.537 55 137 --- --- --- --- PASS AQP10 89872 broad.mit.edu 37 1 154296240 154296240 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:154296240G>A uc001feu.2 + 5 705 c.665G>A c.(664-666)CGT>CAT p.R222H AQP10_uc001fev.2_Missense_Mutation_p.R222H|ATP8B2_uc001few.2_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN aquaporin 10 222 Extracellular (Potential). response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1) 1 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGGCCCACGTCTCTTCACC 0.627 11 52 --- --- --- --- PASS KCNN3 3782 broad.mit.edu 37 1 154841808 154841808 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:154841808G>A uc001ffp.2 - 1 947 c.633C>T c.(631-633)TTC>TTT p.F211F KCNN3_uc009wox.1_Silent_p.F211F NM_002249 NP_002240 Q9UGI6 KCNN3_HUMAN small conductance calcium-activated potassium 216 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) TGCTAGGGCTGAAAAGCTGGA 0.637 36 63 --- --- --- --- PASS SEMA4A 64218 broad.mit.edu 37 1 156144709 156144709 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:156144709A>G uc001fnl.2 + 12 1516 c.1412A>G c.(1411-1413)AAC>AGC p.N471S SEMA4A_uc009wrq.2_Missense_Mutation_p.N471S|SEMA4A_uc001fnm.2_Missense_Mutation_p.N471S|SEMA4A_uc001fnn.2_Missense_Mutation_p.N339S|SEMA4A_uc001fno.2_Missense_Mutation_p.N471S NM_022367 NP_071762 Q9H3S1 SEM4A_HUMAN semaphorin B precursor 471 Sema.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 Hepatocellular(266;0.158) CCTGTTCGCAACCTGCAGCTG 0.622 29 73 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156616841 156616841 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:156616841C>T uc001fpp.2 + 3 676 c.340C>T c.(340-342)CCA>TCA p.P114S BCAN_uc001fpo.2_Missense_Mutation_p.P114S NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 114 Ig-like V-type. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GCCTGCGTACCCAGCGTCGCT 0.672 14 28 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157772365 157772365 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:157772365C>A uc001frg.2 - 4 522 c.409G>T c.(409-411)GCT>TCT p.A137S FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.A137S|FCRL1_uc001fri.2_Missense_Mutation_p.A137S|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 137 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTGCCCATAGCAACTGAGCAG 0.542 40 57 --- --- --- --- PASS CD5L 922 broad.mit.edu 37 1 157803197 157803197 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:157803197T>C uc001frk.3 - 5 967 c.824A>G c.(823-825)GAA>GGA p.E275G NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 275 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTCCTCCTTTTCTCCCCAGTT 0.572 90 122 --- --- --- --- PASS CD1B 910 broad.mit.edu 37 1 158298786 158298786 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:158298786C>G uc001frx.2 - 5 1013 c.905G>C c.(904-906)GGC>GCC p.G302A CD1B_uc001frw.2_Missense_Mutation_p.G140A NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 302 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AACAATTGAGCCAATGGAGGT 0.458 29 51 --- --- --- --- PASS OR6K6 128371 broad.mit.edu 37 1 158724842 158724842 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:158724842G>T uc001fsw.1 + 1 237 c.237G>T c.(235-237)GTG>GTT p.V79V NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 79 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) TCATCCAGGTGGGCATGGCCC 0.483 90 152 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160062359 160062359 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:160062359C>A uc001fva.2 - 5 1484 c.1439G>T c.(1438-1440)TGG>TTG p.W480L IGSF8_uc001fuz.2_Missense_Mutation_p.W480L|IGSF8_uc009wtf.2_Missense_Mutation_p.W480L NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 480 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCGCTCCACCCACCAGCTGGC 0.687 16 22 --- --- --- --- PASS DCAF8 50717 broad.mit.edu 37 1 160207000 160207000 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:160207000G>C uc001fvo.2 - 6 1196 c.884C>G c.(883-885)TCT>TGT p.S295C DCAF8_uc001fvn.2_Missense_Mutation_p.S295C|DCAF8_uc009wth.2_Missense_Mutation_p.S295C|DCAF8_uc010pjb.1_Missense_Mutation_p.S295C|DCAF8_uc010pjc.1_Missense_Mutation_p.S449C|uc010pjd.1_5'Flank NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 295 WD 3. CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 CGTACAGGGAGAGTCTGGTTC 0.313 5 9 --- --- --- --- PASS USP21 27005 broad.mit.edu 37 1 161130911 161130911 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:161130911G>T uc010pke.1 + 3 858 c.481G>T c.(481-483)GGG>TGG p.G161W USP21_uc010pkc.1_Missense_Mutation_p.G161W|USP21_uc010pkd.1_Missense_Mutation_p.G161W|USP21_uc010pkf.1_Missense_Mutation_p.G161W NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 161 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCGCCGCCTAGGGGGCTTTCC 0.642 27 43 --- --- --- --- PASS FCGR3B 2215 broad.mit.edu 37 1 161600845 161600845 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:161600845C>T uc009wul.2 - 1 314 c.40G>A c.(40-42)GTT>ATT p.V14I NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 14 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 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) CCTGACTTACCTAGAAGTAGC 0.532 23 45 --- --- --- --- PASS TADA1 117143 broad.mit.edu 37 1 166829463 166829463 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:166829463G>A uc001gdw.2 - 6 836 c.652C>T c.(652-654)CTG>TTG p.L218L TADA1_uc001gdv.2_Silent_p.L76L NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 218 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 CTATTCTTCAGGTATGGCTGC 0.373 23 51 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167095787 167095787 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:167095787G>T uc001geb.1 + 5 1419 c.1419G>T c.(1417-1419)TCG>TCT p.S473S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 473 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CGATGTCCTCGGAGAGCACCT 0.647 15 27 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169562848 169562848 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:169562848T>C uc001ggi.3 - 14 2467 c.2402A>G c.(2401-2403)CAA>CGA p.Q801R SELP_uc001ggh.2_Intron|SELP_uc009wvr.2_Missense_Mutation_p.Q800R NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 801 Cytoplasmic (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TTTACCTTTTTGTCTGAAACG 0.423 28 57 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174274239 174274239 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:174274239C>T uc001gjx.2 + 11 1634 c.1439C>T c.(1438-1440)TCA>TTA p.S480L RABGAP1L_uc009wwq.1_Missense_Mutation_p.S492L|RABGAP1L_uc001gjw.2_Missense_Mutation_p.S443L|RABGAP1L_uc001gjy.2_Missense_Mutation_p.S148L|RABGAP1L_uc001gjz.2_Missense_Mutation_p.S127L NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 480 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 GGTCCAATGTCACCCCAGGAT 0.468 39 29 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176564578 176564578 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:176564578G>A uc001gkz.2 + 3 3002 c.1838G>A c.(1837-1839)CGC>CAC p.R613H PAPPA2_uc001gky.1_Missense_Mutation_p.R613H|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 613 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGTGACTGCCGCCTGCAGGGC 0.587 43 57 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176762746 176762746 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:176762746C>A uc001gkz.2 + 20 6235 c.5071C>A c.(5071-5073)CTA>ATA p.L1691I PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1691 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCCCGTGATGCTACCTGAGAA 0.483 63 100 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176857303 176857303 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:176857303G>T uc001glc.2 - 18 3190 c.2978C>A c.(2977-2979)TCA>TAA p.S993* ASTN1_uc001glb.1_Nonsense_Mutation_p.S993*|ASTN1_uc001gld.1_Nonsense_Mutation_p.S993* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1001 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCAGTCCCTGAGCACCAGAG 0.537 38 44 --- --- --- --- PASS SOAT1 6646 broad.mit.edu 37 1 179306981 179306981 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:179306981A>T uc001gml.2 + 5 402 c.339A>T c.(337-339)AGA>AGT p.R113S SOAT1_uc010pni.1_Missense_Mutation_p.R48S|SOAT1_uc001gmm.2_Missense_Mutation_p.R55S|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.R48S NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 113 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) GGGATTTGAGAGCACCTCCAG 0.303 30 33 --- --- --- --- PASS CEP350 9857 broad.mit.edu 37 1 180003020 180003020 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:180003020C>G uc001gnt.2 + 16 4132 c.3749C>G c.(3748-3750)TCT>TGT p.S1250C CEP350_uc009wxl.2_Missense_Mutation_p.S1249C|CEP350_uc001gnu.2_Missense_Mutation_p.S1083C NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1250 Ser-rich. centrosome|nucleus|spindle ovary(4) 4 AAGGGAAGATCTCAGAAAACT 0.378 43 89 --- --- --- --- PASS PTGS2 5743 broad.mit.edu 37 1 186645691 186645691 + Missense_Mutation SNP C A A rs148160346 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:186645691C>A uc001gsb.2 - 7 1015 c.878G>T c.(877-879)CGG>CTG p.R293L PTGS2_uc009wyo.2_Missense_Mutation_p.R140L NM_000963 NP_000954 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 precursor 293 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity ovary(1)|central_nervous_system(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580) GTTGTGTTCCCGCAGCCAGAT 0.502 40 84 --- --- --- --- PASS RGS21 431704 broad.mit.edu 37 1 192316463 192316463 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:192316463C>A uc001gsh.2 + 3 206 c.32C>A c.(31-33)CCA>CAA p.P11Q NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 11 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|skin(1) 2 TACAGGTCACCAACTGCGGAA 0.313 72 158 --- --- --- --- PASS UCHL5 51377 broad.mit.edu 37 1 193028383 193028383 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:193028383C>A uc001gsm.2 - 1 139 c.8G>T c.(7-9)GGC>GTC p.G3V UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.G3V|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Missense_Mutation_p.G3V|UCHL5_uc001gsq.2_Missense_Mutation_p.G3V|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_5'UTR|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 3 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 CCCGGCATTGCCCGTCATGGC 0.672 10 32 --- --- --- --- PASS CFH 3075 broad.mit.edu 37 1 196642292 196642292 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:196642292G>A uc001gtj.3 + 2 483 c.243G>A c.(241-243)CAG>CAA p.Q81Q CFH_uc001gti.3_Silent_p.Q81Q|CFH_uc009wyw.2_Silent_p.Q81Q|CFH_uc009wyx.2_Silent_p.Q81Q NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 81 Sushi 1. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGAAATGTCAGAGTAAGTACT 0.318 24 52 --- --- --- --- PASS RABIF 5877 broad.mit.edu 37 1 202850137 202850137 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:202850137T>A uc001gyl.2 - 2 378 c.341A>T c.(340-342)TAT>TTT p.Y114F NM_002871 NP_002862 P47224 MSS4_HUMAN RAB-interacting factor 114 cellular membrane fusion|protein transport|small GTPase mediated signal transduction guanyl-nucleotide exchange factor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) CAAGGCCACATAGAAACTGTT 0.493 64 76 --- --- --- --- PASS PPP1R15B 84919 broad.mit.edu 37 1 204379712 204379712 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:204379712C>A uc001hav.3 - 1 1233 c.828G>T c.(826-828)CCG>CCT p.P276P NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 276 regulation of translation ovary(1)|pancreas(1) 2 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) GCCACGAGGCCGGAATGAGTT 0.542 93 126 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204949567 204949567 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:204949567C>T uc001hbj.2 + 20 2574 c.2246C>T c.(2245-2247)ACG>ATG p.T749M NFASC_uc010pra.1_Missense_Mutation_p.T745M|NFASC_uc001hbi.2_Missense_Mutation_p.T745M|NFASC_uc010prb.1_Missense_Mutation_p.T760M|NFASC_uc010prc.1_Missense_Mutation_p.T316M|NFASC_uc001hbk.1_Missense_Mutation_p.T555M|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 749 Extracellular (Potential).|Fibronectin type-III 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATCACGTGGACGGTAAGAGGC 0.612 9 21 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205116794 205116794 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:205116794C>T uc001hbw.2 - 13 2746 c.2682G>A c.(2680-2682)TTG>TTA p.L894L DSTYK_uc001hbx.2_Silent_p.L849L NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 894 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 GAGGCCTCTTCAAGGGGTCGC 0.537 85 156 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205116822 205116822 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:205116822A>G uc001hbw.2 - 13 2718 c.2654T>C c.(2653-2655)ATG>ACG p.M885T DSTYK_uc001hbx.2_Missense_Mutation_p.M840T NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 885 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 ACAGGCTTCCATCAACTGCCA 0.552 69 152 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207648284 207648284 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:207648284C>T uc001hfw.2 + 13 2356 c.2262C>T c.(2260-2262)CTC>CTT p.L754L CR2_uc001hfv.2_Silent_p.L813L|CR2_uc009xch.2_Silent_p.L754L NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 754 Sushi 12.|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 GATTCTATCTCCTGGGAGAGA 0.463 70 101 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209968732 209968732 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:209968732C>A uc001hhq.1 - 5 674 c.411G>T c.(409-411)AAG>AAT p.K137N IRF6_uc010psm.1_Missense_Mutation_p.K42N|IRF6_uc009xct.1_Missense_Mutation_p.K137N NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 137 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CATCATTATCCTTCTCATCCC 0.542 HNSCC(57;0.16) 44 54 --- --- --- --- PASS TRAF5 7188 broad.mit.edu 37 1 211533358 211533358 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:211533358T>A uc001hih.2 + 5 543 c.483T>A c.(481-483)TGT>TGA p.C161* TRAF5_uc001hii.2_Nonsense_Mutation_p.C161*|TRAF5_uc010psx.1_Nonsense_Mutation_p.C172*|TRAF5_uc010psy.1_Intron|TRAF5_uc001hij.2_Nonsense_Mutation_p.C161* NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 161 TRAF-type 1. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) GTGCATCCTGTCAGTTTCGAA 0.423 47 73 --- --- --- --- PASS LPGAT1 9926 broad.mit.edu 37 1 212002483 212002483 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:212002483C>T uc001hiu.2 - 2 969 c.156G>A c.(154-156)AAG>AAA p.K52K LPGAT1_uc001hiv.2_Silent_p.K52K NM_014873 NP_055688 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 52 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) ACCAGAACCGCTTACTGTCCA 0.438 58 90 --- --- --- --- PASS CENPF 1063 broad.mit.edu 37 1 214811305 214811305 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:214811305T>G uc001hkm.2 + 11 1717 c.1543T>G c.(1543-1545)TGT>GGT p.C515G NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 515 Potential. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CATCAAACAGTGTTTAAATCA 0.408 49 72 --- --- --- --- PASS KCTD3 51133 broad.mit.edu 37 1 215792322 215792322 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:215792322C>T uc001hks.2 + 16 1951 c.1657C>T c.(1657-1659)CGC>TGC p.R553C KCTD3_uc001hkt.2_Missense_Mutation_p.R553C|KCTD3_uc010pub.1_Missense_Mutation_p.R451C|KCTD3_uc009xdn.2_Missense_Mutation_p.R277C NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 553 WD 5. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AAGACCAAGGCGCTACTTGTT 0.443 17 120 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216051223 216051223 + Splice_Site SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:216051223C>T uc001hku.1 - 43 8946 c.8559_splice c.e43-1 p.R2853_splice NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 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) AAGCTCATATCTAAAGCAAAA 0.418 HNSCC(13;0.011) 43 92 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222791476 222791476 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:222791476C>T uc001hnl.2 + 1 33 c.24C>T c.(22-24)CTC>CTT p.L8L NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 8 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) CTGGGCTGCTCGTCTGGCTGC 0.667 6 9 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222803650 222803650 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:222803650T>C uc001hnl.2 + 4 3097 c.3088T>C c.(3088-3090)TAC>CAC p.Y1030H MIA3_uc009xea.1_Missense_Mutation_p.Y866H NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1030 Extracellular (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) TTTTGTCAGGTACAAGCACTC 0.478 38 209 --- --- --- --- PASS WNT3A 89780 broad.mit.edu 37 1 228238464 228238464 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:228238464C>T uc001hrq.1 + 3 499 c.421C>T c.(421-423)CGC>TGC p.R141C WNT3A_uc001hrp.1_Missense_Mutation_p.R141C NM_033131 NP_149122 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, 141 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity ovary(1) 1 Prostate(94;0.0405) CTGCAGCAGCCGCCACCAGGG 0.652 33 102 --- --- --- --- PASS AGT 183 broad.mit.edu 37 1 230845930 230845930 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:230845930A>G uc001hty.3 - 2 1175 c.667T>C c.(667-669)TTT>CTT p.F223L AGT_uc009xfe.2_Missense_Mutation_p.F223L|AGT_uc009xff.2_Missense_Mutation_p.F195L NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 223 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CCCTGCACAAACGGCTGCTTC 0.612 31 87 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235377193 235377193 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:235377193G>A uc001hwq.2 - 17 2230 c.1732C>T c.(1732-1734)CGG>TGG p.R578W ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Missense_Mutation_p.R259W NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) CGTCCATACCGCACTTGGACT 0.343 7 324 --- --- --- --- PASS TBCE 6905 broad.mit.edu 37 1 235602204 235602204 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:235602204A>T uc001hwz.1 + 13 1360 c.1237A>T c.(1237-1239)ACA>TCA p.T413S TBCE_uc001hxa.1_Missense_Mutation_p.T413S|TBCE_uc010pxr.1_Missense_Mutation_p.T464S|TBCE_uc001hxb.1_Missense_Mutation_p.T300S NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 413 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) AGAATTCCTCACAGCCCATCC 0.488 101 76 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237580424 237580424 + Splice_Site SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:237580424G>A uc001hyl.1 + 11 968 c.848_splice c.e11+1 p.A283_splice NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 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) TAAGAGTTGCGTAAGTAGAAC 0.448 53 34 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777346 237777346 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:237777346G>T uc001hyl.1 + 37 5038 c.4918G>T c.(4918-4920)GAC>TAC p.D1640Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1640 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGATCTGTTGACATCTTAGA 0.428 26 78 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237796898 237796898 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:237796898G>T uc001hyl.1 + 43 6696 c.6576G>T c.(6574-6576)ATG>ATT p.M2192I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2192 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCCAAGATGGTGGCCAACT 0.388 103 337 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240978014 240978014 + Splice_Site SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:240978014A>T uc001hyv.2 - 12 1175 c.845_splice c.e12+1 p.S282_splice RGS7_uc010pyh.1_Splice_Site_p.S256_splice|RGS7_uc010pyj.1_Splice_Site_p.S198_splice|RGS7_uc001hyu.2_Splice_Site_p.S282_splice|RGS7_uc009xgn.1_Splice_Site_p.S229_splice|RGS7_uc001hyw.2_Splice_Site_p.S282_splice|RGS7_uc001hyt.2_Splice_Site_p.S114_splice NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TGAAATACTCACCTGTCAGCG 0.323 32 114 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247588866 247588866 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:247588866C>A uc001icr.2 + 5 2259 c.2121C>A c.(2119-2121)GTC>GTA p.V707V NLRP3_uc001ics.2_Silent_p.V707V|NLRP3_uc001icu.2_Silent_p.V707V|NLRP3_uc001icw.2_Silent_p.V707V|NLRP3_uc001icv.2_Silent_p.V707V|NLRP3_uc010pyw.1_Silent_p.V705V|NLRP3_uc001ict.1_Silent_p.V705V NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 707 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGCAGTGTGTCCTCCCAAGCT 0.562 63 43 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004713 248004713 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248004713C>T uc001idn.1 - 1 486 c.486G>A c.(484-486)ATG>ATA p.M162I NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACCTGGAAATCATCAGGGAAG 0.557 58 131 --- --- --- --- PASS OR2L2 26246 broad.mit.edu 37 1 248201836 248201836 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248201836G>T uc001idw.2 + 1 363 c.267G>T c.(265-267)AAG>AAT p.K89N OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 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;0.0278) atggaaacaagtctatctcct 0.303 78 259 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248367125 248367125 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248367125T>A uc010pzg.1 + 1 756 c.756T>A c.(754-756)TAT>TAA p.Y252* NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 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;0.0245) GAATGTACTATGGAGCAGCTT 0.493 234 162 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248550956 248550956 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248550956G>C uc001iei.1 + 1 47 c.47G>C c.(46-48)GGG>GCG p.G16A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCTCATGGGGCTCTTCACT 0.423 27 117 --- --- --- --- PASS OR2T11 127077 broad.mit.edu 37 1 248790217 248790217 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248790217G>T uc001ier.1 - 1 213 c.213C>A c.(211-213)ATC>ATA p.I71I NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGTGGTACAGATGAAAAGGG 0.473 64 55 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845215 248845215 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:248845215T>C uc001ieu.1 - 1 391 c.391A>G c.(391-393)AGA>GGA p.R131G NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCACGGCTCTGTATTGGAGG 0.512 28 65 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1639256 1639256 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:1639256C>G uc002qxa.2 - 22 4308 c.4244G>C c.(4243-4245)TGC>TCC p.C1415S NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1415 VWFC. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGCATCCACGCACTCTGTGGT 0.468 9 15 --- --- --- --- PASS COLEC11 78989 broad.mit.edu 37 2 3691114 3691114 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:3691114A>T uc002qya.2 + 6 557 c.409A>T c.(409-411)AAG>TAG p.K137* COLEC11_uc002qxz.2_Nonsense_Mutation_p.K134*|COLEC11_uc002qyb.2_Nonsense_Mutation_p.K113*|COLEC11_uc002qyc.2_Nonsense_Mutation_p.K113*|COLEC11_uc010ewo.2_Nonsense_Mutation_p.K89*|COLEC11_uc010ewp.2_Nonsense_Mutation_p.K111*|COLEC11_uc010ewq.2_Nonsense_Mutation_p.K87*|COLEC11_uc010ewr.2_Nonsense_Mutation_p.K87*|COLEC11_uc010ews.2_Nonsense_Mutation_p.K63* NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 137 Potential. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CAGCGAGCTCAAGTTCATCAA 0.682 19 77 --- --- --- --- PASS LPIN1 23175 broad.mit.edu 37 2 11925077 11925077 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:11925077C>T uc010yjn.1 + 10 1590 c.1316C>T c.(1315-1317)CCG>CTG p.P439L LPIN1_uc010yjm.1_Missense_Mutation_p.P524L|LPIN1_uc002rbt.2_Missense_Mutation_p.P439L|LPIN1_uc010yjo.1_5'Flank NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 439 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AACCAGTCCCCGCAGTCGGTG 0.667 OREG0014445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 34 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21228501 21228501 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:21228501G>C uc002red.2 - 26 11367 c.11239C>G c.(11239-11241)CCT>GCT p.P3747A NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3747 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGGAACGTAGGCATGACAAGA 0.383 29 130 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32475784 32475784 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:32475784T>C uc002roi.2 - 4 1395 c.1149A>G c.(1147-1149)GCA>GCG p.A383A NLRC4_uc002roj.1_Silent_p.A383A|NLRC4_uc010ezt.1_Intron NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 383 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAAGTCACTTGCAGCCACAC 0.468 22 55 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33335712 33335712 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:33335712C>G uc002ros.2 + 4 927 c.927C>G c.(925-927)CTC>CTG p.L309L NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 309 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AATACGTGCTCAAGCCCAAGT 0.463 57 116 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33749499 33749499 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:33749499A>T uc002rox.2 + 10 1318 c.691A>T c.(691-693)AAG>TAG p.K231* RASGRP3_uc010ync.1_Nonsense_Mutation_p.K231*|RASGRP3_uc002roy.2_Nonsense_Mutation_p.K231* NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 231 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TTTATTGCAGAAGCTCCTTCA 0.353 4 18 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656664 40656664 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:40656664C>T uc002rrx.2 - 1 781 c.757G>A c.(757-759)GAT>AAT p.D253N SLC8A1_uc002rry.2_Missense_Mutation_p.D253N|SLC8A1_uc002rrz.2_Missense_Mutation_p.D253N|SLC8A1_uc002rsa.2_Missense_Mutation_p.D253N|SLC8A1_uc002rsd.3_Missense_Mutation_p.D253N|SLC8A1_uc002rsb.1_Missense_Mutation_p.D253N|SLC8A1_uc010fan.1_Missense_Mutation_p.D253N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D253N NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 253 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGTCTCCTATCCGCTACCCAA 0.443 17 119 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43732779 43732779 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:43732779T>C uc002rsw.3 - 24 3955 c.3603A>G c.(3601-3603)ATA>ATG p.I1201M THADA_uc010far.2_Missense_Mutation_p.I470M|THADA_uc002rsx.3_Missense_Mutation_p.I1201M|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.I910M|THADA_uc010fat.1_Missense_Mutation_p.I348M|THADA_uc002rta.2_Missense_Mutation_p.I911M NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1201 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTGTACTCTGTATGTCATCTG 0.323 7 12 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43968112 43968112 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:43968112G>C uc010yny.1 + 21 3234 c.3151G>C c.(3151-3153)GGG>CGG p.G1051R PLEKHH2_uc002rtf.3_Missense_Mutation_p.G1050R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1051 MyTH4.|Helical; (Potential). cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACTCTGCGTTGGGCTCTTCCT 0.542 20 107 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50149181 50149181 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:50149181T>C uc010fbp.2 - 6 2037 c.1230A>G c.(1228-1230)TCA>TCG p.S410S NRXN1_uc002rxb.3_Silent_p.S1144S|NRXN1_uc010fbq.2_Silent_p.S1515S|NRXN1_uc002rxe.3_Silent_p.S1445S|NRXN1_uc010yon.1_Silent_p.S110S|NRXN1_uc002rxa.3_Silent_p.S107S NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 410 Cytoplasmic (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGGACTGTGCTGAGTTACTGA 0.438 23 117 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54853176 54853176 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:54853176C>T uc002rxu.2 + 12 1698 c.1449C>T c.(1447-1449)GCC>GCT p.A483A SPTBN1_uc002rxv.1_Silent_p.A483A|SPTBN1_uc002rxx.2_Silent_p.A470A NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 483 Spectrin 2. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) CTGTGGTAGCCGTGGCCAGGG 0.567 56 90 --- --- --- --- PASS GKN2 200504 broad.mit.edu 37 2 69173521 69173521 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:69173521G>T uc002sfa.2 - 5 496 c.387C>A c.(385-387)GAC>GAA p.D129E GKN2_uc002sfb.3_Missense_Mutation_p.D129E NM_182536 NP_872342 Q86XP6 GKN2_HUMAN trefoil factor interactions(z) 1 precursor 129 BRICHOS. extracellular region 0 ACCAATCCACGTCTTTGATCA 0.448 110 173 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79254998 79254998 + Nonsense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:79254998G>A uc002snw.2 + 5 484 c.399G>A c.(397-399)TGG>TGA p.W133* REG3G_uc002snx.2_Nonsense_Mutation_p.W133*|REG3G_uc010ffu.2_Nonsense_Mutation_p.W87* NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 133 C-type lectin. acute-phase response extracellular region sugar binding 0 ACTTTGCATGGGAGAAAAATC 0.498 128 99 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80529841 80529841 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:80529841C>G uc002sok.1 - 2 1374 c.1104G>C c.(1102-1104)GAG>GAC p.E368D CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 368 Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CGCTGGTGGGCTCGGCCCCAT 0.716 HNSCC(69;0.2) 11 10 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530675 80530675 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:80530675C>T uc002sok.1 - 2 540 c.270G>A c.(268-270)CAG>CAA p.Q90Q CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 90 LRR 1.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCCACGTGAGCTGCATTAACC 0.612 HNSCC(69;0.2) 30 117 --- --- --- --- PASS FAHD2A 51011 broad.mit.edu 37 2 96071537 96071537 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:96071537C>T uc002sur.2 + 2 410 c.231C>T c.(229-231)CTC>CTT p.L77L FAHD2A_uc002sus.2_Silent_p.L77L NM_016044 NP_057128 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 77 hydrolase activity|metal ion binding ovary(1) 1 AGGCCACCCTCTCAGTGGCAA 0.597 10 11 --- --- --- --- PASS MITD1 129531 broad.mit.edu 37 2 99787034 99787034 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:99787034G>C uc002szs.1 - 5 607 c.559C>G c.(559-561)CAA>GAA p.Q187E MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.2_Intron NM_138798 NP_620153 Q8WV92 MITD1_HUMAN MIT, microtubule interacting and transport, 187 protein transport late endosome membrane large_intestine(1)|ovary(1) 2 GAAGAGTATTGAACTTCCAAC 0.328 83 241 --- --- --- --- PASS MRPS9 64965 broad.mit.edu 37 2 105687796 105687796 + Missense_Mutation SNP G A A rs147264055 by1000genomes TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:105687796G>A uc002tcn.3 + 3 409 c.341G>A c.(340-342)AGT>AAT p.S114N NM_182640 NP_872578 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 precursor 114 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CTTTTCCCAAGTGGTTTGTTT 0.219 32 26 --- --- --- --- PASS SEPT10 151011 broad.mit.edu 37 2 110325422 110325422 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:110325422G>T uc002tew.2 - 6 1111 c.732C>A c.(730-732)GAC>GAA p.D244E SEPT10_uc010ywu.1_Missense_Mutation_p.D77E|SEPT10_uc002tex.2_Missense_Mutation_p.D221E|SEPT10_uc002tey.2_Missense_Mutation_p.D244E|SEPT10_uc010ywv.1_Missense_Mutation_p.D110E|SEPT10_uc002tev.1_Missense_Mutation_p.D51E|SEPT10_uc010fjo.2_RNA|SEPT10_uc002tez.1_Missense_Mutation_p.D19E NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 244 cell cycle|cell division septin complex GTP binding 0 TAGCAATAGTGTCATCATCCG 0.368 22 88 --- --- --- --- PASS UGGT1 56886 broad.mit.edu 37 2 128886667 128886667 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:128886667G>T uc002tps.2 + 13 1469 c.1291G>T c.(1291-1293)GGC>TGC p.G431C UGGT1_uc010fme.1_Missense_Mutation_p.G306C|UGGT1_uc002tpr.2_Missense_Mutation_p.G407C NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 431 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 GGGAATAGAAGGCCTTTCTCT 0.438 30 95 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 132020950 132020950 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:132020950A>C uc002tsn.2 + 15 1974 c.1922A>C c.(1921-1923)GAA>GCA p.E641A PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E241A|POTEE_uc002tsl.2_Missense_Mutation_p.E223A|POTEE_uc010fmy.1_Missense_Mutation_p.E105A NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 641 ATP binding 0 TGTAAGAAAGAAAAAGACGTC 0.348 29 18 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133540003 133540003 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:133540003C>A uc002ttp.2 - 14 4755 c.4381G>T c.(4381-4383)GCT>TCT p.A1461S NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1461 protein binding 0 GAACTCACAGCATCAGTCGCG 0.502 10 53 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135745090 135745090 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:135745090G>T uc002tue.1 - 7 1383 c.1352C>A c.(1351-1353)CCC>CAC p.P451H YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P338H|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.P179H|YSK4_uc002tui.3_Missense_Mutation_p.P468H NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 451 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TTTATCAATGGGGTCATCAAA 0.358 72 59 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138421125 138421125 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:138421125C>A uc002tva.1 + 25 4544 c.4544C>A c.(4543-4545)TCT>TAT p.S1515Y THSD7B_uc010zbj.1_RNA NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AAAGGATGGTCTCTTCAACCA 0.358 7 8 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 159954259 159954259 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:159954259A>G uc002uag.2 + 4 446 c.172A>G c.(172-174)AAA>GAA p.K58E TANC1_uc010fol.1_Missense_Mutation_p.K58E|TANC1_uc010zcm.1_Missense_Mutation_p.K58E|TANC1_uc010fom.1_Missense_Mutation_p.K58E NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 58 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 GAGCTTGGCCAAAGGTGTCTC 0.522 102 100 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162735758 162735758 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:162735758G>A uc002ubx.3 + 9 1250 c.1066G>A c.(1066-1068)GTA>ATA p.V356I SLC4A10_uc010fpa.1_Missense_Mutation_p.V368I|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.V326I|SLC4A10_uc010zcs.1_Missense_Mutation_p.V337I NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 356 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GTCTCCAGCTGTATTGCTTCA 0.413 77 76 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162760591 162760591 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:162760591T>A uc002ubx.3 + 13 1704 c.1520T>A c.(1519-1521)CTG>CAG p.L507Q SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.L477Q|SLC4A10_uc010zcs.1_Missense_Mutation_p.L488Q NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 507 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 GCTTTCAGCCTGCAGTGCTTA 0.443 4 18 --- --- --- --- PASS GCG 2641 broad.mit.edu 37 2 163003945 163003945 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:163003945A>C uc002ucc.2 - 3 271 c.172T>G c.(172-174)TTC>GTC p.F58V NM_002054 NP_002045 P01275 GLUC_HUMAN glucagon preproprotein 58 cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion plasma membrane|soluble fraction hormone activity 0 Exenatide(DB01276)|Phentolamine(DB00692) TCACTGGTGAATGTGCCCTGT 0.498 142 156 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163051246 163051246 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:163051246G>A uc002ucd.2 - 17 1623 c.1415C>T c.(1414-1416)CCC>CTC p.P472L FAP_uc010fpc.2_Missense_Mutation_p.P21L|FAP_uc010zct.1_Missense_Mutation_p.P447L|FAP_uc010fpd.2_5'UTR NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 472 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 GGTGGAAATGGGGATGCCTGG 0.443 17 47 --- --- --- --- PASS GCA 25801 broad.mit.edu 37 2 163216741 163216741 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:163216741T>C uc002ucg.2 + 8 818 c.642T>C c.(640-642)ACT>ACC p.T214T GCA_uc010zcu.1_Silent_p.T195T NM_012198 NP_036330 P28676 GRAN_HUMAN grancalcin, EF-hand calcium binding protein 214 cellular membrane fusion cytoplasm|plasma membrane calcium ion binding|protein homodimerization activity 0 TGCAGGGCACTATGGCAATTT 0.274 32 43 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 166020188 166020188 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:166020188C>T uc002ucx.2 - 7 1126 c.634G>A c.(634-636)GTC>ATC p.V212I SCN3A_uc002ucy.2_Missense_Mutation_p.V212I|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Missense_Mutation_p.V81I|SCN3A_uc002udb.1_Intron NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 212 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AACGCTGAGACATTGCCCAGG 0.418 16 63 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166172106 166172106 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:166172106C>G uc002udc.2 + 11 1799 c.1509C>G c.(1507-1509)AAC>AAG p.N503K SCN2A_uc002udd.2_Missense_Mutation_p.N503K|SCN2A_uc002ude.2_Missense_Mutation_p.N503K NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 503 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGCTGAaaaacagaagaaaga 0.299 14 63 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166848358 166848358 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:166848358A>G uc010zcz.1 - 26 5412 c.5394T>C c.(5392-5394)TAT>TAC p.Y1798Y NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1809 IV. Missing (in SMEI). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCCAAACCTCATAGAACATCT 0.458 34 118 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170042516 170042516 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:170042516G>A uc002ues.2 - 50 9555 c.9342C>T c.(9340-9342)TGC>TGT p.C3114C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3114 EGF-like 11.|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) AAGGGTCATGGCATTCATTAA 0.408 35 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179500826 179500826 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:179500826G>T uc010zfg.1 - 175 33992 c.33768C>A c.(33766-33768)GGC>GGA p.G11256G TTN_uc010zfh.1_Silent_p.G4951G|TTN_uc010zfi.1_Silent_p.G4884G|TTN_uc010zfj.1_Silent_p.G4759G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12183 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) GCACAATTCGGCCAGGTTTCT 0.512 16 63 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179600527 179600527 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:179600527C>G uc010zfg.1 - 47 11138 c.10914G>C c.(10912-10914)TTG>TTC p.L3638F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L299F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4565 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) CAATGATGATCAACTCTGCTT 0.398 19 45 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605786 179605786 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:179605786C>T uc010zfh.1 - 46 11885 c.11661G>A c.(11659-11661)AAG>AAA p.K3887K TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.K3820K|TTN_uc010zfj.1_Silent_p.K3695K|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3827 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) CTGCGGGACCCTTTAAGGGTG 0.463 71 234 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179635938 179635938 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:179635938C>A uc010zfg.1 - 34 8340 c.8116G>T c.(8116-8118)GCT>TCT p.A2706S TTN_uc010zfh.1_Missense_Mutation_p.A2660S|TTN_uc010zfi.1_Missense_Mutation_p.A2660S|TTN_uc010zfj.1_Missense_Mutation_p.A2660S|TTN_uc002unb.2_Missense_Mutation_p.A2706S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2706 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) TGTTACTTGCCTTCAACTTTG 0.358 10 49 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179648829 179648829 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:179648829G>C uc010zfg.1 - 16 2967 c.2743C>G c.(2743-2745)CGC>GGC p.R915G TTN_uc010zfh.1_Missense_Mutation_p.R869G|TTN_uc010zfi.1_Missense_Mutation_p.R869G|TTN_uc010zfj.1_Missense_Mutation_p.R869G|TTN_uc002unb.2_Missense_Mutation_p.R915G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 915 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) ACTTCAAAGCGCTCTTCACGG 0.552 47 64 --- --- --- --- PASS DUSP19 142679 broad.mit.edu 37 2 183943829 183943829 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:183943829T>C uc002upd.2 + 1 543 c.168T>C c.(166-168)TAT>TAC p.Y56Y DUSP19_uc010frp.2_Silent_p.Y56Y|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Silent_p.Y56Y NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 56 JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 GTTGTGGTTATGTGCAGGACC 0.453 46 50 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185803426 185803426 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:185803426T>A uc002uph.2 + 4 3897 c.3303T>A c.(3301-3303)ACT>ACA p.T1101T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1101 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TCCATCACACTGTTTtgcagc 0.373 25 88 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950611 198950611 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:198950611G>C uc010fsp.2 + 2 2661 c.2370G>C c.(2368-2370)GAG>GAC p.E790D PLCL1_uc002uuv.3_Missense_Mutation_p.E711D NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 790 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ACCTACCTGAGCTGGCCATGA 0.393 69 67 --- --- --- --- PASS CLK1 1195 broad.mit.edu 37 2 201722523 201722523 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:201722523G>C uc002uwe.2 - 7 931 c.750C>G c.(748-750)GAC>GAG p.D250E CLK1_uc002uwd.2_Missense_Mutation_p.D73E|CLK1_uc010zhi.1_Missense_Mutation_p.D292E|CLK1_uc002uwf.2_Missense_Mutation_p.D24E|CLK1_uc002uwg.2_Missense_Mutation_p.D99E|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 250 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 CTTTAATGAAGTCGTAAGTAC 0.368 21 48 --- --- --- --- PASS MPP4 58538 broad.mit.edu 37 2 202550668 202550668 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:202550668A>T uc002uyk.3 - 6 674 c.466T>A c.(466-468)TGT>AGT p.C156S MPP4_uc010ftj.2_Missense_Mutation_p.C156S|MPP4_uc010zhq.1_Missense_Mutation_p.C156S|MPP4_uc010zhr.1_Missense_Mutation_p.C156S|MPP4_uc010zhs.1_Intron|MPP4_uc002uyj.3_Intron|MPP4_uc010zht.1_Missense_Mutation_p.C129S|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.C156S|MPP4_uc002uym.1_Intron|MPP4_uc002uyn.2_Intron NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 156 PDZ. cytoplasm protein binding 0 TTCACTAAACAAACAATCCTC 0.413 34 114 --- --- --- --- PASS NOP58 51602 broad.mit.edu 37 2 203167649 203167649 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:203167649G>A uc002uzb.2 + 14 1558 c.1408G>A c.(1408-1410)GAA>AAA p.E470K NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein homolog 470 Lys-rich. cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding 0 TTCAGTTgaagaagaggaaga 0.244 49 51 --- --- --- --- PASS NBEAL1 65065 broad.mit.edu 37 2 204066306 204066306 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:204066306G>C uc002uzt.3 + 49 7525 c.7192G>C c.(7192-7194)GAG>CAG p.E2398Q NBEAL1_uc002uzs.3_Missense_Mutation_p.E1039Q NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 2398 binding ovary(1)|skin(1) 2 TCCCGGGCTAGAGATCACTTC 0.383 34 108 --- --- --- --- PASS C2orf80 389073 broad.mit.edu 37 2 209045987 209045987 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:209045987T>C uc002vcr.2 - 5 421 c.249A>G c.(247-249)AGA>AGG p.R83R NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 83 skin(1) 1 CTTCTCGTTCTCTACGATTTG 0.353 20 71 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212426717 212426717 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:212426717G>A uc002veg.1 - 20 2496 c.2398C>T c.(2398-2400)CCC>TCC p.P800S ERBB4_uc002veh.1_Missense_Mutation_p.P800S|ERBB4_uc010zji.1_Missense_Mutation_p.P790S|ERBB4_uc010zjj.1_Missense_Mutation_p.P790S|ERBB4_uc010fut.1_Missense_Mutation_p.P800S NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 800 Protein kinase.|Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CAGCCATGGGGCATAAGTTGA 0.507 TSP Lung(8;0.080) 45 70 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 215274882 215274882 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:215274882C>A uc002veq.2 + 16 1831 c.1739C>A c.(1738-1740)GCA>GAA p.A580E SPAG16_uc002ver.2_Missense_Mutation_p.A526E|SPAG16_uc010zjk.1_Missense_Mutation_p.A486E|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 580 WD 6. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TTAGCTCAGGCAAGTGGCAAT 0.423 17 55 --- --- --- --- PASS VWC2L 402117 broad.mit.edu 37 2 215440412 215440412 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:215440412A>T uc002vet.2 + 4 667 c.537A>T c.(535-537)GCA>GCT p.A179A VWC2L_uc010zjl.1_Missense_Mutation_p.Q136L NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 179 extracellular region 0 ACTGCTTTGCAGGAACGACGA 0.478 40 91 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216289835 216289835 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:216289835C>T uc002vfa.2 - 7 1284 c.1018G>A c.(1018-1020)GTC>ATC p.V340I FN1_uc002vfb.2_Missense_Mutation_p.V340I|FN1_uc002vfc.2_Missense_Mutation_p.V340I|FN1_uc002vfd.2_Missense_Mutation_p.V340I|FN1_uc002vfe.2_Missense_Mutation_p.V340I|FN1_uc002vff.2_Missense_Mutation_p.V340I|FN1_uc002vfg.2_Missense_Mutation_p.V340I|FN1_uc002vfh.2_Missense_Mutation_p.V340I|FN1_uc002vfi.2_Missense_Mutation_p.V340I|FN1_uc002vfj.2_Missense_Mutation_p.V340I|FN1_uc002vfl.2_Missense_Mutation_p.V340I NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 340 Fibronectin type-I 6.|Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCAGCTGACTCCGTTGCCC 0.423 79 154 --- --- --- --- PASS IRS1 3667 broad.mit.edu 37 2 227663167 227663167 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:227663167C>A uc002voh.3 - 1 340 c.288G>T c.(286-288)GCG>GCT p.A96A NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 96 PH.|Mediates interaction with PHIP (By similarity). fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGCTGTCCGCCGCGATGGCAA 0.637 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 72 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228115904 228115904 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:228115904C>A uc002vom.1 + 10 757 c.595C>A c.(595-597)CCT>ACT p.P199T COL4A3_uc002von.1_Missense_Mutation_p.P199T|COL4A3_uc002voo.1_Missense_Mutation_p.P199T|COL4A3_uc002vop.1_Missense_Mutation_p.P199T|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 199 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCCACCTGGTCCTCCGGGATT 0.358 23 60 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241534701 241534701 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:241534701G>T uc002vzk.1 + 7 1442 c.1258G>T c.(1258-1260)GTG>TTG p.V420L CAPN10_uc010zoh.1_Missense_Mutation_p.V420L|CAPN10_uc002vzl.1_Missense_Mutation_p.V420L|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.V292L|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 420 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) CTACCAGGCTGTGGGTCTGCA 0.662 8 18 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242396180 242396180 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:242396180C>A uc002wbi.1 + 14 1547 c.1430C>A c.(1429-1431)CCT>CAT p.P477H FARP2_uc010zoq.1_Missense_Mutation_p.P477H|FARP2_uc010zor.1_Missense_Mutation_p.P477H NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 477 Pro-rich. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) ACGAAGAGTCCTCAGCCTTCT 0.597 4 129 --- --- --- --- PASS NGLY1 55768 broad.mit.edu 37 3 25792627 25792627 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:25792627G>A uc003cdl.2 - 4 728 c.620C>T c.(619-621)TCA>TTA p.S207L NGLY1_uc010hfg.2_Missense_Mutation_p.S207L|NGLY1_uc003cdm.2_Missense_Mutation_p.S207L|NGLY1_uc011awo.1_Missense_Mutation_p.S165L|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 207 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 CTTTTCTTGTGATTTCCTTTT 0.348 21 8 --- --- --- --- PASS CMTM7 112616 broad.mit.edu 37 3 32483427 32483427 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:32483427G>C uc003cey.1 + 2 491 c.255G>C c.(253-255)TTG>TTC p.L85F CMTM7_uc003cez.1_Missense_Mutation_p.L85F NM_138410 NP_612419 Q96FZ5 CKLF7_HUMAN CKLF-like MARVEL transmembrane domain containing 85 Helical; (Potential).|MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity 0 TTTGCGACTTGATAATGATCC 0.562 65 40 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38601752 38601752 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:38601752G>T uc003cio.2 - 23 4325 c.4131C>A c.(4129-4131)ATC>ATA p.I1377I SCN5A_uc003cin.2_Silent_p.I1376I|SCN5A_uc003cil.3_Silent_p.I1377I|SCN5A_uc010hhi.2_Silent_p.I1377I|SCN5A_uc010hhk.2_Silent_p.I1376I|SCN5A_uc011ayr.1_Silent_p.I1323I|SCN5A_uc010hhj.1_Silent_p.I987I NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1377 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGTTGTTCACGATGGTGTAGT 0.522 19 12 --- --- --- --- PASS SCN11A 11280 broad.mit.edu 37 3 38888607 38888607 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:38888607C>T uc011ays.1 - 26 5153 c.4954G>A c.(4954-4956)GCC>ACC p.A1652T NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1652 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TCAGGCAAGGCATCAGCAAAG 0.418 50 26 --- --- --- --- PASS ZNF619 285267 broad.mit.edu 37 3 40529090 40529090 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:40529090G>T uc011azb.1 + 6 1487 c.1209G>T c.(1207-1209)CAG>CAT p.Q403H ZNF619_uc010hhz.2_Missense_Mutation_p.Q354H|ZNF619_uc003ckj.2_Missense_Mutation_p.Q347H|ZNF619_uc011azc.1_Missense_Mutation_p.Q363H|ZNF619_uc011azd.1_Missense_Mutation_p.Q319H|ZNF619_uc011aza.1_Missense_Mutation_p.Q305H NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 isoform 1 403 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TTCAGCATCAGAGAATCCACA 0.468 27 23 --- --- --- --- PASS SMARCC1 6599 broad.mit.edu 37 3 47704056 47704056 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:47704056C>G uc003crq.2 - 20 2044 c.1926G>C c.(1924-1926)TGG>TGC p.W642C SMARCC1_uc011bbc.1_RNA|SMARCC1_uc011bbd.1_Missense_Mutation_p.W533C NM_003074 NP_003065 Q92922 SMRC1_HUMAN SWI/SNF-related matrix-associated 642 SANT. chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity skin(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) ACACTTTGTTCCAATCATCCT 0.398 43 14 --- --- --- --- PASS ATRIP 84126 broad.mit.edu 37 3 48501837 48501837 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:48501837A>G uc003ctf.1 + 8 1416 c.1384A>G c.(1384-1386)ACC>GCC p.T462A ATRIP_uc011bbj.1_Missense_Mutation_p.T335A|ATRIP_uc003ctg.1_Missense_Mutation_p.T462A|TREX1_uc010hjy.2_Intron NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN ATR interacting protein isoform 1 462 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGGGTAGAGACCAACCCTGA 0.587 Other_conserved_DNA_damage_response_genes 41 22 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48678785 48678785 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:48678785A>G uc003cul.2 - 33 9278 c.8997T>C c.(8995-8997)TCT>TCC p.S2999S CELSR3_uc003cuf.1_Silent_p.S3097S|CELSR3_uc010hkf.2_Silent_p.S289S|CELSR3_uc010hkg.2_Silent_p.S982S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 2999 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCCGGCCCAGAGAAGTCTCAT 0.647 65 33 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48696418 48696418 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:48696418T>A uc003cul.2 - 1 3931 c.3650A>T c.(3649-3651)CAG>CTG p.Q1217L CELSR3_uc003cuf.1_Missense_Mutation_p.Q1287L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1217 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TACCAGCAGCTGCAGCTCATT 0.572 25 9 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53752342 53752342 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:53752342A>T uc003dgv.3 + 10 1568 c.1405A>T c.(1405-1407)AGC>TGC p.S469C CACNA1D_uc003dgu.3_Missense_Mutation_p.S469C|CACNA1D_uc003dgy.3_Missense_Mutation_p.S469C|CACNA1D_uc003dgw.3_Missense_Mutation_p.S116C NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 469 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CATGCCCACCAGCGAGACTGA 0.627 43 20 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64627625 64627625 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:64627625G>A uc003dmg.2 - 12 1787 c.1755C>T c.(1753-1755)CCC>CCT p.P585P ADAMTS9_uc011bfo.1_Silent_p.P557P|ADAMTS9_uc003dmh.1_Silent_p.P414P|ADAMTS9_uc003dmk.1_Silent_p.P585P NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 585 Disintegrin. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CATCTGTCACGGGGACATCCA 0.493 90 33 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74344369 74344369 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:74344369G>T uc003dpm.1 - 18 2500 c.2420C>A c.(2419-2421)TCT>TAT p.S807Y NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 807 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AGAGACTTGAGATGGGGCCAC 0.368 34 26 --- --- --- --- PASS CADM2 253559 broad.mit.edu 37 3 85961688 85961688 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:85961688T>C uc003dqj.2 + 5 1294 c.668T>C c.(667-669)ATA>ACA p.I223T CADM2_uc003dqk.2_Missense_Mutation_p.I232T|CADM2_uc003dql.2_Missense_Mutation_p.I225T NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN immunoglobulin superfamily, member 4D 223 Extracellular (Potential). adherens junction organization|cell junction assembly integral to membrane|plasma membrane ovary(1)|lung(1)|kidney(1)|skin(1) 4 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTGCTAGAAATACACTGTAAG 0.458 28 18 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89498461 89498461 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:89498461G>T uc003dqy.2 + 14 2658 c.2433G>T c.(2431-2433)GGG>GGT p.G811G EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 811 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GGAGTTATGGGATTGTTCTCT 0.448 TSP Lung(6;0.00050) 61 35 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100018091 100018091 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:100018091C>T uc003dtt.2 + 10 1185 c.1008C>T c.(1006-1008)GTC>GTT p.V336V TBC1D23_uc003dts.2_Silent_p.V336V NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 336 Rhodanese. intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 AGGAAGGAGTCCGGTTCTTTG 0.398 33 33 --- --- --- --- PASS CBLB 868 broad.mit.edu 37 3 105439079 105439079 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:105439079C>A uc003dwc.2 - 10 1541 c.1219G>T c.(1219-1221)GGC>TGC p.G407C CBLB_uc011bhi.1_Missense_Mutation_p.G429C|CBLB_uc003dwd.1_Missense_Mutation_p.G407C|CBLB_uc003dwe.1_Missense_Mutation_p.G407C|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 407 RING-type. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 AAAGGGCAGCCCTGACCATCC 0.408 Mis S AML 18 16 --- --- --- --- PASS RETNLB 84666 broad.mit.edu 37 3 108475364 108475364 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:108475364A>T uc003dxh.2 - 2 297 c.199T>A c.(199-201)TGC>AGC p.C67S NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN resistin like beta precursor 67 cell proliferation extracellular region hormone activity skin(1) 1 CCAGCAGGGCAGGAGGACGGT 0.547 13 60 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049497 109049497 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:109049497G>T uc003dxq.3 - 5 608 c.553C>A c.(553-555)CTC>ATC p.L185I DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.L185I NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 185 nucleus protein binding upper_aerodigestive_tract(1) 1 CCCTCAAGGAGAGCAGTGGAA 0.572 29 90 --- --- --- --- PASS KTELC1 56983 broad.mit.edu 37 3 119198946 119198946 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:119198946G>A uc003ecm.2 + 5 589 c.505G>A c.(505-507)GGG>AGG p.G169R KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.G10R NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 169 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) ATTTTGGGAAGGGGGACCTGC 0.433 39 49 --- --- --- --- PASS HGD 3081 broad.mit.edu 37 3 120363167 120363167 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:120363167T>A uc003edw.2 - 10 1143 c.773A>T c.(772-774)CAG>CTG p.Q258L HGD_uc003edv.2_Missense_Mutation_p.Q117L NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 258 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) TTACTTTACCTGTTTGGCAGC 0.338 58 171 --- --- --- --- PASS FBXO40 51725 broad.mit.edu 37 3 121341801 121341801 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:121341801C>A uc003eeg.2 + 3 1735 c.1525C>A c.(1525-1527)CAT>AAT p.H509N NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 509 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) CTGGTTCCAGCATCGATGCCC 0.483 19 25 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124369677 124369677 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:124369677G>T uc003ehg.2 + 38 5811 c.5684G>T c.(5683-5685)CGG>CTG p.R1895L KALRN_uc003ehi.2_Missense_Mutation_p.R236L|KALRN_uc003ehk.2_Missense_Mutation_p.R198L|KALRN_uc011bjz.1_5'UTR|KALRN_uc003ehj.2_Missense_Mutation_p.R166L NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1894 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 AGCTCATACCGGGGGAGCTTG 0.507 25 70 --- --- --- --- PASS COL6A6 131873 broad.mit.edu 37 3 130290070 130290070 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:130290070G>C uc010htl.2 + 6 2841 c.2810G>C c.(2809-2811)CGG>CCG p.R937P NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 937 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AAGGCCTTGCGGGACAAAGGC 0.557 38 34 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132241716 132241716 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:132241716T>C uc003eor.2 + 49 5783 c.5718T>C c.(5716-5718)GAT>GAC p.D1906D NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1906 heat shock protein binding ovary(1)|breast(1) 2 TTTTCATGGATGCTATGAGAG 0.348 26 30 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134825429 134825429 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:134825429A>T uc003eqt.2 + 4 1165 c.945A>T c.(943-945)CCA>CCT p.P315P EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.Q204L|EPHB1_uc003equ.2_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 315 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TTGACCCTCCAGAAGTGGCAT 0.587 27 33 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128212 147128212 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:147128212C>A uc003ewe.2 + 1 1032 c.313C>A c.(313-315)CGG>AGG p.R105R NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 105 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GTTCCGCAACCGGGGTTTTGG 0.711 18 47 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148597673 148597673 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:148597673T>C uc003ewm.2 + 6 625 c.573T>C c.(571-573)TAT>TAC p.Y191Y NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor 191 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GGTTTGTCTATCAGGTAAGTG 0.453 41 82 --- --- --- --- PASS TSC22D2 9819 broad.mit.edu 37 3 150128173 150128173 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:150128173G>A uc003exv.2 + 1 1386 c.1036G>A c.(1036-1038)GTG>ATG p.V346M TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Missense_Mutation_p.V346M NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 346 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGGCCCTGCAGTGGGCGCCCC 0.721 5 19 --- --- --- --- PASS FAM194A 131831 broad.mit.edu 37 3 150384672 150384672 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:150384672G>T uc003eyg.2 - 13 1687 c.1630C>A c.(1630-1632)CGT>AGT p.R544S FAM194A_uc003eyh.2_Missense_Mutation_p.R398S NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 544 skin(2)|ovary(1) 3 CCAATATAACGGTTCAAAGCC 0.413 53 91 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151075017 151075017 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:151075017G>T uc003eyp.2 + 18 2611 c.2573G>T c.(2572-2574)AGT>ATT p.S858I MED12L_uc011bnz.1_Missense_Mutation_p.S718I|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S22I NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 858 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) AATGAACTGAGTGTTGTGGAA 0.398 16 73 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154866431 154866431 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:154866431G>T uc010hvr.1 + 16 1801 c.1590G>T c.(1588-1590)GTG>GTT p.V530V MME_uc003fab.1_Silent_p.V530V|MME_uc003fac.1_Silent_p.V530V|MME_uc003fad.1_Silent_p.V530V|MME_uc003fae.1_Silent_p.V530V NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 530 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) GAGAAAAGGTGGACAAAGATG 0.358 30 192 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157098948 157098948 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:157098948C>G uc003fbj.1 - 7 1441 c.1124G>C c.(1123-1125)GGC>GCC p.G375A VEPH1_uc003fbk.1_Missense_Mutation_p.G375A|VEPH1_uc010hvu.1_Missense_Mutation_p.G375A NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 375 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TGCTCACCTGCCACTTCCAGC 0.517 34 159 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 157839991 157839991 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:157839991G>T uc003fbt.2 + 2 209 c.98G>T c.(97-99)AGA>ATA p.R33I RSRC1_uc011bou.1_Missense_Mutation_p.R33I|RSRC1_uc003fbu.1_Missense_Mutation_p.R33I|RSRC1_uc003fbv.2_Missense_Mutation_p.R33I NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 33 Arg/Ser-rich. nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) TCAGATAGTAGAACATACAGC 0.433 10 48 --- --- --- --- PASS GFM1 85476 broad.mit.edu 37 3 158408930 158408930 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:158408930C>T uc003fce.2 + 17 2180 c.2073C>T c.(2071-2073)GTC>GTT p.V691V GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.V622V NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 691 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTTTTCAGGTCCCTCTAAATG 0.338 12 86 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164700133 164700133 + Silent SNP G T T rs147742320 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:164700133G>T uc003fei.2 - 47 5375 c.5313C>A c.(5311-5313)TCC>TCA p.S1771S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1771 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.S1771S(1) ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATACATGAAGGGATCCAAGCC 0.348 HNSCC(35;0.089) 27 65 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164700156 164700156 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:164700156T>A uc003fei.2 - 47 5352 c.5290A>T c.(5290-5292)AAA>TAA p.K1764* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1764 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTTCACTTTTATTTATGTAA 0.338 HNSCC(35;0.089) 21 52 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164792437 164792437 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:164792437G>A uc003fei.2 - 3 199 c.137C>T c.(136-138)TCA>TTA p.S46L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 46 Ser/Thr-rich.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGCTGGAGTTGAAGTAGAATC 0.318 HNSCC(35;0.089) 25 179 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167031801 167031801 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:167031801G>T uc003fep.2 - 16 1701 c.1378C>A c.(1378-1380)CTG>ATG p.L460M ZBBX_uc011bpc.1_Missense_Mutation_p.L460M|ZBBX_uc003feq.2_Missense_Mutation_p.L431M NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 460 intracellular zinc ion binding ovary(2) 2 CTGTTTCTCAGACAAAGATTT 0.313 116 103 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169890469 169890469 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:169890469C>T uc010hws.1 - 3 240 c.176G>A c.(175-177)AGC>AAC p.S59N PHC3_uc003fgl.2_Missense_Mutation_p.S71N|PHC3_uc011bpq.1_Missense_Mutation_p.S71N|PHC3_uc011bpr.1_Missense_Mutation_p.S71N|PHC3_uc003fgm.2_Missense_Mutation_p.S71N|PHC3_uc003fgo.1_Missense_Mutation_p.S55N|PHC3_uc003fgp.3_Missense_Mutation_p.S67N|PHC3_uc003fgq.3_Missense_Mutation_p.S71N NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 59 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) AGCAGCTGAGCTGGGGGGCCG 0.448 67 198 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179096536 179096536 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:179096536A>G uc003fjs.2 + 14 1722 c.1596A>G c.(1594-1596)GTA>GTG p.V532V MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.V560V|MFN1_uc010hxc.2_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 532 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CTTCCCTTGTACATCGATTTT 0.373 32 273 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183014925 183014925 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:183014925G>T uc003fli.1 - 12 1426 c.1336C>A c.(1336-1338)CTC>ATC p.L446I MCF2L2_uc003flj.1_Missense_Mutation_p.L446I|MCF2L2_uc011bqr.1_Intron|uc003fln.1_RNA|uc003flo.2_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 446 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GAAGCCAAGAGGTAGATTCCT 0.532 40 296 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183667579 183667579 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:183667579G>A uc003fmg.2 - 22 3354 c.3189C>T c.(3187-3189)ACC>ACT p.T1063T ABCC5_uc011bqt.1_Silent_p.T591T|ABCC5_uc010hxl.2_Intron NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1063 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGCGTGGATGGTGGCAAGGC 0.552 123 199 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183669786 183669786 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr3:183669786G>A uc003fmg.2 - 19 2838 c.2673C>T c.(2671-2673)ACC>ACT p.T891T ABCC5_uc011bqt.1_Silent_p.T419T|ABCC5_uc010hxl.2_Silent_p.T891T NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 891 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAGTCACAGTGGTGTTCTGTT 0.547 126 222 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749310 22749310 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:22749310G>T uc003gqp.3 + 3 769 c.678G>T c.(676-678)GCG>GCT p.A226A GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.A227A NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 226 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 CACTTTTTGCGGTCTGGTTGG 0.428 107 43 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46307694 46307694 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:46307694C>A uc003gxc.3 - 6 1267 c.594G>T c.(592-594)TGG>TGT p.W198C GABRA2_uc010igc.2_Missense_Mutation_p.W198C|GABRA2_uc011bzc.1_Missense_Mutation_p.W143C|GABRA2_uc003gxe.2_Missense_Mutation_p.W198C NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 198 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CATTGTAAGTCCAAATATAAG 0.358 13 16 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46307695 46307695 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:46307695C>A uc003gxc.3 - 6 1266 c.593G>T c.(592-594)TGG>TTG p.W198L GABRA2_uc010igc.2_Missense_Mutation_p.W198L|GABRA2_uc011bzc.1_Missense_Mutation_p.W143L|GABRA2_uc003gxe.2_Missense_Mutation_p.W198L NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 198 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTGTAAGTCCAAATATAAGT 0.363 13 16 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52864046 52864046 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:52864046G>A uc003gzi.2 - 3 737 c.724C>T c.(724-726)CTA>TTA p.L242L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 242 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GGAAATTCTAGAGCTATGATC 0.393 89 78 --- --- --- --- PASS KIAA1211 57482 broad.mit.edu 37 4 57181005 57181005 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:57181005A>G uc003hbk.2 + 8 1728 c.1337A>G c.(1336-1338)GAG>GGG p.E446G KIAA1211_uc010iha.2_Missense_Mutation_p.E439G|KIAA1211_uc011bzz.1_Missense_Mutation_p.E356G|KIAA1211_uc003hbm.1_Missense_Mutation_p.E332G NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 446 Glu-rich. ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GAACACTCCGAGGAGCCAGGT 0.617 7 33 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66280001 66280001 + Splice_Site SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:66280001C>G uc003hcy.2 - 7 1880 c.1687_splice c.e7+1 p.F563_splice EPHA5_uc003hcx.2_Splice_Site_p.S494_splice|EPHA5_uc003hcz.2_Splice_Site_p.F563_splice|EPHA5_uc011cah.1_Splice_Site_p.S563_splice|EPHA5_uc011cai.1_Splice_Site_p.S563_splice|EPHA5_uc003hda.2_Splice_Site_p.S563_splice NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AAATGACTTACACACTGGGGT 0.443 TSP Lung(17;0.13) 26 30 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70355265 70355265 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:70355265G>T uc003hek.3 - 3 941 c.894C>A c.(892-894)AGC>AGA p.S298R UGT2B4_uc011cap.1_Missense_Mutation_p.S162R|UGT2B4_uc003hel.3_Missense_Mutation_p.S298R NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 298 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TTTCTCCAGAGCTCTGGACAA 0.398 77 83 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70361031 70361031 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:70361031A>G uc003hek.3 - 1 596 c.549T>C c.(547-549)CAT>CAC p.H183H UGT2B4_uc011cap.1_Silent_p.H47H|UGT2B4_uc003hel.3_Silent_p.H183H NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 183 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 GTCCTCCACTATGCTTTTCAA 0.443 18 61 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73156630 73156630 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:73156630C>G uc003hgk.1 - 20 2910 c.2873G>C c.(2872-2874)CGC>CCC p.R958P NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 958 TSP type-1 3. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACAGGGCCGGCGGCTCTCGGG 0.567 19 39 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73987360 73987360 + Silent SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:73987360T>G uc003hgp.2 - 19 3726 c.3609A>C c.(3607-3609)CTA>CTC p.L1203L ANKRD17_uc003hgo.2_Silent_p.L1090L|ANKRD17_uc003hgq.2_Silent_p.L952L|ANKRD17_uc003hgr.2_Silent_p.L1202L|ANKRD17_uc011cbd.1_Silent_p.L768L NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1203 ANK 19. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTCCTGCATTTAGTAATATTT 0.383 49 54 --- --- --- --- PASS AFM 173 broad.mit.edu 37 4 74364930 74364930 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:74364930G>T uc003hhb.2 + 11 1420 c.1389G>T c.(1387-1389)ACG>ACT p.T463T NM_001133 NP_001124 P43652 AFAM_HUMAN afamin precursor 463 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) CTTGCTGTACGCTAAGTGAAG 0.408 14 41 --- --- --- --- PASS THAP9 79725 broad.mit.edu 37 4 83839358 83839358 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:83839358C>T uc003hnt.2 + 5 2112 c.1993C>T c.(1993-1995)CGA>TGA p.R665* THAP9_uc003hns.1_Nonsense_Mutation_p.R521*|THAP9_uc003hnu.1_RNA|THAP9_uc003hnv.2_Nonsense_Mutation_p.R382* NM_024672 NP_078948 Q9H5L6 THAP9_HUMAN THAP domain containing 9 665 DNA binding|metal ion binding ovary(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 5 Hepatocellular(203;0.114) TTCAATTGCTCGAAGGAAAGA 0.398 17 75 --- --- --- --- PASS HELQ 113510 broad.mit.edu 37 4 84376793 84376793 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:84376793G>A uc003hom.2 - 1 233 c.54C>T c.(52-54)AAC>AAT p.N18N HELQ_uc010ikb.2_Silent_p.N18N|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_5'UTR|HELQ_uc003hoo.1_Silent_p.N18N|HELQ_uc003hop.1_5'UTR|HELQ_uc003hoq.1_Silent_p.N18N|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN DNA helicase HEL308 18 ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|breast(1)|skin(1) 3 AGCTTGGACGGTTCCTTTTGG 0.602 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function OREG0016254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 139 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85598396 85598396 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:85598396T>G uc003hpd.2 - 67 10821 c.10413A>C c.(10411-10413)GAA>GAC p.E3471D WDFY3_uc003hpc.2_Missense_Mutation_p.E226D NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3471 FYVE-type. 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) GGTGTCGTCTTTCTGTGAGTG 0.473 14 72 --- --- --- --- PASS HSD17B13 345275 broad.mit.edu 37 4 88235003 88235003 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:88235003T>A uc003hqo.2 - 5 730 c.667A>T c.(667-669)ACT>TCT p.T223S HSD17B13_uc010ikk.2_Missense_Mutation_p.T187S NM_178135 NP_835236 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 223 extracellular region binding|oxidoreductase activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) GTGAACCCAGTATTCACAAAA 0.388 21 39 --- --- --- --- PASS PKD2 5311 broad.mit.edu 37 4 88989126 88989126 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:88989126C>T uc003hre.2 + 13 2501 c.2435C>T c.(2434-2436)TCT>TTT p.S812F PKD2_uc011cdf.1_Missense_Mutation_p.S230F|PKD2_uc011cdg.1_Missense_Mutation_p.S138F|PKD2_uc011cdh.1_Missense_Mutation_p.S35F NM_000297 NP_000288 Q13563 PKD2_HUMAN polycystin 2 812 Linker.|Cytoplasmic (Potential). basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity skin(1) 1 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) CTGGATGACTCTGAGGAGGAT 0.488 11 50 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90874208 90874208 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:90874208A>G uc003hst.2 + 8 3397 c.3326A>G c.(3325-3327)TAT>TGT p.Y1109C MMRN1_uc010iku.2_Missense_Mutation_p.Y412C|MMRN1_uc011cds.1_Missense_Mutation_p.Y851C NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 1109 C1q. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TCTCATACGTATGGAATGACT 0.353 28 86 --- --- --- --- PASS NDST3 9348 broad.mit.edu 37 4 118975630 118975630 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:118975630G>A uc003ibx.2 + 2 968 c.565G>A c.(565-567)GCA>ACA p.A189T NDST3_uc011cgf.1_Missense_Mutation_p.A189T|NDST3_uc003ibw.2_Missense_Mutation_p.A189T NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 189 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TGGAAATCTTGCAGTAAAAGA 0.378 22 87 --- --- --- --- PASS PDE5A 8654 broad.mit.edu 37 4 120528376 120528376 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:120528376C>T uc003idh.2 - 2 384 c.229G>A c.(229-231)GAA>AAA p.E77K PDE5A_uc003idf.2_Missense_Mutation_p.E35K|PDE5A_uc003idg.2_Missense_Mutation_p.E25K NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 77 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GAGCAAGATTCGGTGTGGCCT 0.517 14 52 --- --- --- --- PASS BBS7 55212 broad.mit.edu 37 4 122774121 122774121 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:122774121C>A uc003ied.2 - 8 1013 c.839G>T c.(838-840)CGA>CTA p.R280L BBS7_uc003iee.1_Missense_Mutation_p.R280L NM_176824 NP_789794 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 protein isoform a 280 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding ovary(1) 1 CTGATCAAATCGTAGAACAGG 0.308 Bardet-Biedl_syndrome 15 19 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123178522 123178522 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:123178522G>C uc003ieh.2 + 39 6536 c.6491G>C c.(6490-6492)AGA>ACA p.R2164T KIAA1109_uc003iel.1_Missense_Mutation_p.R99T|KIAA1109_uc003iek.2_Missense_Mutation_p.R783T NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 2164 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AGCTTACATAGACCAGCTCAG 0.448 60 80 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126389770 126389770 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:126389770A>G uc003ifj.3 + 11 12003 c.12003A>G c.(12001-12003)AAA>AAG p.K4001K FAT4_uc011cgp.1_Silent_p.K2264K|FAT4_uc003ifi.1_Silent_p.K1479K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4001 Laminin G-like 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTTATGTCAAATTTGCCACGA 0.403 24 33 --- --- --- --- PASS PHF17 79960 broad.mit.edu 37 4 129776951 129776951 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:129776951A>C uc003igk.2 + 7 1143 c.863A>C c.(862-864)GAG>GCG p.E288A PHF17_uc003igj.2_Missense_Mutation_p.E288A|PHF17_uc003igl.2_Missense_Mutation_p.E276A|PHF17_uc011cgy.1_Missense_Mutation_p.E288A|PHF17_uc003igm.2_Missense_Mutation_p.E288A NM_199320 NP_955352 Q6IE81 JADE1_HUMAN PHD finger protein 17 long isoform 288 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding 0 TGGATCCCTGAGGTACGTGTG 0.318 15 25 --- --- --- --- PASS MAP9 79884 broad.mit.edu 37 4 156289766 156289766 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:156289766T>A uc003ios.2 - 5 944 c.680A>T c.(679-681)AAA>ATA p.K227I MAP9_uc011cin.1_Missense_Mutation_p.K226I|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K226I|MAP9_uc010iqb.1_Missense_Mutation_p.K154I NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 227 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) AGAGAATGCTTTTTTCTCAGC 0.373 23 77 --- --- --- --- PASS GUCY1B3 2983 broad.mit.edu 37 4 156715238 156715238 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:156715238G>T uc003ipc.2 + 6 893 c.726G>T c.(724-726)CAG>CAT p.Q242H GUCY1B3_uc011cio.1_Missense_Mutation_p.Q264H|GUCY1B3_uc011cip.1_Missense_Mutation_p.Q222H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.Q170H|GUCY1B3_uc010iqf.2_Missense_Mutation_p.Q242H|GUCY1B3_uc010iqg.2_Missense_Mutation_p.Q170H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.Q170H NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 242 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) TTCTCCCCCAGGTAAAATGAC 0.423 16 16 --- --- --- --- PASS NPY5R 4889 broad.mit.edu 37 4 164271902 164271902 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:164271902G>C uc003iqn.2 + 4 659 c.477G>C c.(475-477)CTG>CTC p.L159L NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 159 Helical; Name=4; (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) GCTACTTTCTGATAGCTACTG 0.368 58 159 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393427 164393427 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:164393427G>C uc003iqp.3 - 1 1621 c.1460C>G c.(1459-1461)CCA>CGA p.P487R NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 487 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATTTTCTTGTGGGGTATAAAT 0.463 44 113 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169158919 169158919 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:169158919G>A uc003irp.2 - 31 4484 c.4192C>T c.(4192-4194)CTG>TTG p.L1398L NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 1398 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTGAAGGACAGCAATGAATGC 0.348 42 41 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177100702 177100702 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:177100702G>T uc003iuj.2 + 31 4097 c.3941G>T c.(3940-3942)GGG>GTG p.G1314V WDR17_uc003iuk.2_Missense_Mutation_p.G1290V|WDR17_uc003ium.3_Missense_Mutation_p.G1275V|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.G525V NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 1314 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCACCTTTAGGGACTGGAATA 0.388 40 61 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189020207 189020207 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr4:189020207G>A uc003izl.2 - 4 489 c.453C>T c.(451-453)GGC>GGT p.G151G TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Silent_p.G201G|TRIML2_uc011clf.1_Silent_p.G201G NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 151 ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATGCCAAGGTGCCTTCCCCAC 0.458 18 62 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 482234 482234 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:482234C>A uc003jbe.2 - 8 1507 c.1395G>T c.(1393-1395)GTG>GTT p.V465V SLC9A3_uc011clx.1_Silent_p.V456V NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 465 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCTCCTCTTCACCTTCAGCC 0.706 6 15 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7520856 7520856 + Silent SNP G T T rs139006667 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:7520856G>T uc003jdz.1 + 3 481 c.414G>T c.(412-414)TCG>TCT p.S138S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 138 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGTAGGTATCGTTCTTCCTCT 0.498 9 45 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7743796 7743796 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:7743796C>A uc003jdz.1 + 15 1954 c.1887C>A c.(1885-1887)GGC>GGA p.G629G ADCY2_uc011cmo.1_Silent_p.G449G NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 629 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CCGTCCTGGGCATCTCCTTTG 0.488 102 190 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13770908 13770908 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:13770908A>T uc003jfd.2 - 56 9597 c.9555T>A c.(9553-9555)TAT>TAA p.Y3185* DNAH5_uc003jfc.2_5'Flank NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3185 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATATGAACTTATAGCCCTGAA 0.423 Kartagener_syndrome 18 41 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23509588 23509588 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:23509588G>T uc003jgo.2 + 3 261 c.79G>T c.(79-81)GCC>TCC p.A27S NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 27 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 GGTCAAAGATGCCTTCAAAGA 0.438 HNSCC(3;0.000094) 30 138 --- --- --- --- PASS RXFP3 51289 broad.mit.edu 37 5 33937291 33937291 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:33937291C>A uc003jic.1 + 1 803 c.446C>A c.(445-447)CCC>CAC p.P149H NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 149 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 TTCAAATGGCCCTTCGGCAAG 0.547 31 81 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38881806 38881806 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:38881806G>A uc003jln.1 + 4 725 c.358G>A c.(358-360)GAT>AAT p.D120N OSMR_uc003jlm.1_Missense_Mutation_p.D120N NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 120 Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) TTTGGTGGACGATGCCAAGTT 0.473 41 72 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43659318 43659318 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:43659318G>T uc003joe.2 + 17 2755 c.2500G>T c.(2500-2502)GTT>TTT p.V834F NNT_uc003jof.2_Missense_Mutation_p.V834F NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 834 Helical; (Potential). tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CATGCCCGTCGTTATCACTGT 0.473 70 107 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262680 45262680 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:45262680G>T uc003jok.2 - 8 2041 c.2016C>A c.(2014-2016)AGC>AGA p.S672R NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 672 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGTGAGACAGGCTGGTCGCTG 0.587 17 34 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45461983 45461983 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:45461983G>T uc003jok.2 - 3 1001 c.976C>A c.(976-978)CCA>ACA p.P326T NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 326 Extracellular (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAATCTGGTGGGAAGTCCTGC 0.408 6 24 --- --- --- --- PASS KIF2A 3796 broad.mit.edu 37 5 61648442 61648442 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:61648442G>T uc003jsy.3 + 5 673 c.362G>T c.(361-363)AGT>ATT p.S121I KIF2A_uc003jsz.3_Missense_Mutation_p.S121I|KIF2A_uc010iwp.2_Missense_Mutation_p.S121I|KIF2A_uc003jsx.3_Missense_Mutation_p.S101I|KIF2A_uc010iwq.2_5'UTR NM_004520 NP_004511 O00139 KIF2A_HUMAN kinesin heavy chain member 2 isoform 1 121 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding 0 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) GCACGGCCCAGTCAATTTCCT 0.378 7 13 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256827 63256827 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:63256827G>A uc011cqt.1 - 1 720 c.720C>T c.(718-720)ACC>ACT p.T240T NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 240 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CTCCATGGCGGGTGTCCGCTC 0.632 30 45 --- --- --- --- PASS MAST4 375449 broad.mit.edu 37 5 66460076 66460076 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:66460076G>T uc003jut.1 + 28 4570 c.4502G>T c.(4501-4503)CGA>CTA p.R1501L MAST4_uc003juw.2_Missense_Mutation_p.R1429L|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1693 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GATTACCTCCGAAAGAAAATG 0.547 9 11 --- --- --- --- PASS TAF9 6880 broad.mit.edu 37 5 68661401 68661401 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:68661401T>G uc003jwc.1 - 2 496 c.164A>C c.(163-165)AAA>ACA p.K55T TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.K55T|TAF9_uc003jwe.1_Missense_Mutation_p.K55T|TAF9_uc003jwf.1_Missense_Mutation_p.K55T NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 55 histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) TGAATAAATTTTTGCATCATC 0.428 30 64 --- --- --- --- PASS GTF2H2 2966 broad.mit.edu 37 5 70338049 70338049 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:70338049C>A uc003kav.3 - 13 1094 c.884G>T c.(883-885)CGG>CTG p.R295L NAIP_uc003kat.1_Intron|GTF2H2_uc003kau.3_Missense_Mutation_p.R295L|GTF2H2_uc011crt.1_Missense_Mutation_p.R238L NM_001515 NP_001506 Q13888 TF2H2_HUMAN general transcription factor IIH, polypeptide 2, 295 C4-type. G-protein coupled receptor internalization|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|response to UV|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding|zinc ion binding 0 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) GTACTTTGCCCGACACTGTGG 0.393 NER 50 23 --- --- --- --- PASS ZFYVE16 9765 broad.mit.edu 37 5 79743890 79743890 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:79743890C>T uc003kgr.3 + 8 3072 c.2770C>T c.(2770-2772)CCA>TCA p.P924S ZFYVE16_uc003kgp.2_Missense_Mutation_p.P924S|ZFYVE16_uc003kgq.3_Missense_Mutation_p.P924S|ZFYVE16_uc003kgs.3_Missense_Mutation_p.P924S|ZFYVE16_uc003kgt.3_Intron NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 924 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGTGGAAAAGCCAAACAATGA 0.328 7 26 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82833026 82833026 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:82833026G>A uc003kii.3 + 8 4560 c.4204G>A c.(4204-4206)GTG>ATG p.V1402M VCAN_uc003kij.3_Missense_Mutation_p.V415M|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.V66M NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1402 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCTACTGATGTGACAACCAC 0.408 13 25 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82836960 82836960 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:82836960C>T uc003kii.3 + 8 8494 c.8138C>T c.(8137-8139)GCA>GTA p.A2713V VCAN_uc003kij.3_Missense_Mutation_p.A1726V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.A1377V NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2713 GAG-beta. IKAEA -> EFREV (in Ref. 7; AAA36437). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAGCTGAAGCAAAAGCCCTG 0.418 23 27 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82841364 82841364 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:82841364C>A uc003kii.3 + 9 9630 c.9274C>A c.(9274-9276)CGC>AGC p.R3092S VCAN_uc003kij.3_Missense_Mutation_p.R2105S|VCAN_uc010jau.2_Missense_Mutation_p.R1338S|VCAN_uc003kik.3_Missense_Mutation_p.R351S|VCAN_uc003kil.3_Missense_Mutation_p.R1756S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 3092 EGF-like 1. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGGACCTGATCGCTGCAAAAT 0.458 41 138 --- --- --- --- PASS MEF2C 4208 broad.mit.edu 37 5 88047822 88047822 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:88047822G>A uc003kjj.2 - 5 1114 c.441C>T c.(439-441)ATC>ATT p.I147I MEF2C_uc003kji.2_Silent_p.I147I|MEF2C_uc003kjk.2_Silent_p.I147I|MEF2C_uc003kjm.2_Silent_p.I145I|MEF2C_uc003kjl.2_Silent_p.I165I NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 147 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGGACACTGGGATGGAGACTG 0.478 HNSCC(66;0.2) 20 58 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101582983 101582983 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:101582983C>G uc003knm.2 - 10 2071 c.1784G>C c.(1783-1785)GGT>GCT p.G595A NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 595 Helical; Name=10; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TATAGGAGTACCGGCCATAAA 0.378 15 45 --- --- --- --- PASS SLCO4C1 353189 broad.mit.edu 37 5 101627153 101627153 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:101627153C>T uc003knm.2 - 2 800 c.513G>A c.(511-513)AAG>AAA p.K171K NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 171 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GCCATCTCGGCTTATGTCCTC 0.388 10 33 --- --- --- --- PASS KCNN2 3781 broad.mit.edu 37 5 113740526 113740526 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:113740526C>G uc003kqo.2 + 3 1431 c.974C>G c.(973-975)GCC>GGC p.A325G NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 325 Helical; Name=Segment S5; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TGGATAATTGCCGCATGGACT 0.323 44 82 --- --- --- --- PASS TRIM36 55521 broad.mit.edu 37 5 114462205 114462205 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:114462205T>C uc003kqs.2 - 10 2691 c.2182A>G c.(2182-2184)ATG>GTG p.M728V TRIM36_uc011cwc.1_Missense_Mutation_p.M716V|TRIM36_uc003kqt.2_Missense_Mutation_p.M573V NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 728 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) TTCAACTACATGTCCTCTTGG 0.398 14 19 --- --- --- --- PASS DMXL1 1657 broad.mit.edu 37 5 118479539 118479539 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:118479539T>A uc003ksd.2 + 14 2561 c.2380T>A c.(2380-2382)TAT>AAT p.Y794N DMXL1_uc010jcl.1_Missense_Mutation_p.Y794N NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 794 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) aaaaCAGAAATATGTTGGTGA 0.264 41 71 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 120021726 120021726 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:120021726G>T uc003ksq.2 + 2 400 c.237G>T c.(235-237)ACG>ACT p.T79T PRR16_uc003ksp.2_Silent_p.T56T|PRR16_uc003ksr.2_Silent_p.T9T NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 79 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AAACGGACACGCTGAATAGTA 0.507 23 61 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127863628 127863628 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:127863628C>A uc003kuu.2 - 4 908 c.469G>T c.(469-471)GGG>TGG p.G157W FBN2_uc003kuv.2_Missense_Mutation_p.G124W|FBN2_uc003kuw.3_Missense_Mutation_p.G157W|FBN2_uc003kux.1_Missense_Mutation_p.G157W NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 157 EGF-like 2. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCACAGGTCCCACCATTCATG 0.373 24 45 --- --- --- --- PASS UBE2D2 7322 broad.mit.edu 37 5 138994297 138994297 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:138994297C>G uc003ler.2 + 4 762 c.136C>G c.(136-138)CAG>GAG p.Q46E UBE2D2_uc003leq.2_Missense_Mutation_p.Q17E NM_003339 NP_003330 P62837 UB2D2_HUMAN ubiquitin-conjugating enzyme E2D 2 isoform 1 46 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|protein binding|ubiquitin-protein ligase activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAGTCCCTATCAGGGTGGAGT 0.338 28 57 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215250 140215250 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140215250C>T uc003lhq.2 + 1 1282 c.1282C>T c.(1282-1284)CGG>TGG p.R428W 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_uc011dac.1_Missense_Mutation_p.R428W NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTACCGCGCGGGACGGGGG 0.617 47 88 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140216091 140216091 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140216091C>G uc003lhq.2 + 1 2123 c.2123C>G c.(2122-2124)TCC>TGC p.S708C 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_uc011dac.1_Missense_Mutation_p.S708C NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 708 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGGTGTCCAGTCTGTTG 0.612 17 46 --- --- --- --- PASS PCDHA11 56138 broad.mit.edu 37 5 140250819 140250819 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140250819G>C uc003lia.2 + 1 2989 c.2131G>C c.(2131-2133)GTA>CTA p.V711L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.V711L NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 711 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCCTCCTGGTACTCACGCT 0.682 14 27 --- --- --- --- PASS PCDHAC2 56134 broad.mit.edu 37 5 140346559 140346559 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140346559C>A uc003lii.2 + 1 448 c.208C>A c.(208-210)CGG>AGG p.R70R 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_Silent_p.R70R NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN protocadherin alpha subfamily C, 2 isoform 1 70 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) GCTTGAGCTGCGGCGCTTGGG 0.692 5 11 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140530565 140530565 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140530565C>G uc003lir.2 + 1 727 c.727C>G c.(727-729)CAG>GAG p.Q243E PCDHB6_uc011dah.1_Missense_Mutation_p.Q107E NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 243 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGAGTTTGCTCAGGAGCTCTA 0.552 7 17 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140559017 140559017 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140559017G>A uc011dai.1 + 1 1588 c.1402G>A c.(1402-1404)GCC>ACC p.A468T PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 468 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACAGCCCCGCCCTGCACAT 0.637 34 241 --- --- --- --- PASS PCDHB11 56125 broad.mit.edu 37 5 140581299 140581299 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140581299C>T uc003liy.2 + 1 1952 c.1952C>T c.(1951-1953)CCG>CTG p.P651L PCDHB11_uc011daj.1_Missense_Mutation_p.P286L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 651 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGCCTCCGCGCTCGGCC 0.721 7 36 --- --- --- --- PASS PCDHGA4 56111 broad.mit.edu 37 5 140736526 140736526 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140736526C>T uc003ljq.1 + 1 1759 c.1759C>T c.(1759-1761)CTG>TTG p.L587L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.L587L NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 587 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCGGCTACCTGGTGACCAA 0.592 41 82 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140745690 140745690 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140745690C>T uc003lju.1 + 1 1793 c.1793C>T c.(1792-1794)TCA>TTA p.S598L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.S598L NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 598 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAAAGATTCAGGCCAGAAC 0.672 30 51 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140772974 140772974 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140772974C>T uc003lkd.1 + 1 1492 c.594C>T c.(592-594)CGC>CGT p.R198R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.R198R NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 198 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGAGCGCGCCCTGGACA 0.632 14 36 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140774332 140774332 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:140774332A>T uc003lkd.1 + 1 2850 c.1952A>T c.(1951-1953)CAG>CTG p.Q651L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.Q651L NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 651 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCATGGCCAGCCCCCTCTC 0.677 6 29 --- --- --- --- PASS DPYSL3 1809 broad.mit.edu 37 5 146795384 146795384 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:146795384T>G uc003lon.1 - 4 476 c.366A>C c.(364-366)AAA>AAC p.K122N DPYSL3_uc003loo.2_Missense_Mutation_p.K236N NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 122 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCTCTCCATTTCTCATAGG 0.537 41 105 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150275503 150275503 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:150275503C>A uc003lsy.1 - 6 1565 c.1298G>T c.(1297-1299)GGT>GTT p.G433V IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTTTCTCACCAGTGTGAAT 0.433 13 42 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150911198 150911198 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:150911198C>A uc003lue.3 - 13 9774 c.9761G>T c.(9760-9762)CGC>CTC p.R3254L GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3254 Extracellular (Potential).|Cadherin 29. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCTGACCACGCGGTAGCCGGT 0.672 8 18 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154396295 154396295 + Missense_Mutation SNP T C C rs148448511 by1000genomes TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:154396295T>C uc010jih.1 + 1 3036 c.2876T>C c.(2875-2877)CTG>CCG p.L959P NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 959 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAACAACAGCTGGTGAGCACA 0.473 14 51 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 155935659 155935659 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:155935659G>A uc003lwd.3 + 3 714 c.238G>A c.(238-240)GGA>AGA p.G80R SGCD_uc003lwa.1_Missense_Mutation_p.G81R|SGCD_uc003lwb.2_Missense_Mutation_p.G81R|SGCD_uc003lwc.3_Missense_Mutation_p.G81R NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 80 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAAGCTAGAAGGAGACTCTGA 0.403 18 25 --- --- --- --- PASS HAVCR1 26762 broad.mit.edu 37 5 156456809 156456809 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:156456809C>A uc010jij.1 - 9 1215 c.1030G>T c.(1030-1032)GTT>TTT p.V344F HAVCR1_uc011ddl.1_Missense_Mutation_p.Q163H|HAVCR1_uc003lwi.2_Missense_Mutation_p.V344F NM_001099414 NP_001092884 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 339 Cytoplasmic (Potential). interspecies interaction between organisms integral to membrane receptor activity ovary(1)|skin(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCTTTTCAACTGCATTTTGC 0.388 11 25 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161576271 161576271 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:161576271C>T uc003lyz.3 + 8 1438 c.1080C>T c.(1078-1080)GTC>GTT p.V360V GABRG2_uc010jjc.2_Silent_p.V400V|GABRG2_uc003lyy.3_Silent_p.V360V|GABRG2_uc011dej.1_Silent_p.V265V NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 360 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) ATTATTTTGTCAGCAACCGGA 0.393 23 52 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169127139 169127139 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:169127139G>T uc003maf.2 + 13 1334 c.1254G>T c.(1252-1254)ATG>ATT p.M418I DOCK2_uc011der.1_RNA|DOCK2_uc010jjl.1_5'Flank NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 418 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGATCATCATGCCAGGTGAGA 0.517 37 89 --- --- --- --- PASS C5orf25 375484 broad.mit.edu 37 5 175749343 175749343 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:175749343C>A uc003mds.3 + 8 2307 c.1900C>A c.(1900-1902)CAA>AAA p.Q634K C5orf25_uc003mdt.3_Missense_Mutation_p.Q219K|C5orf25_uc003mdr.3_RNA|C5orf25_uc003mdv.2_Missense_Mutation_p.Q95K Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 634 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) AAATGGAAATCAAACGTCTTC 0.458 5 10 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176638020 176638020 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:176638020G>T uc003mfr.3 + 5 2758 c.2620G>T c.(2620-2622)GAG>TAG p.E874* NSD1_uc003mft.3_Nonsense_Mutation_p.E605*|NSD1_uc003mfs.1_Nonsense_Mutation_p.E771*|NSD1_uc011dfx.1_Nonsense_Mutation_p.E522* NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 874 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATCCTTAGGTGAGGATGTCAG 0.393 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 59 22 --- --- --- --- PASS MGAT4B 11282 broad.mit.edu 37 5 179227526 179227526 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:179227526G>C uc003mks.2 - 6 1046 c.677C>G c.(676-678)TCC>TGC p.S226C MGAT4B_uc003mkp.2_Missense_Mutation_p.S81C|MGAT4B_uc003mkq.2_Missense_Mutation_p.S81C|MGAT4B_uc003mkr.2_Missense_Mutation_p.S241C|MIR1229_hsa-mir-1229|MI0006319_5'Flank NM_014275 NP_055090 Q9UQ53 MGT4B_HUMAN alpha-1,3-mannosyl-glycoprotein 226 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding 0 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGGAGGCGGGAGAAGTCAGG 0.607 5 21 --- --- --- --- PASS MGAT1 4245 broad.mit.edu 37 5 180219177 180219177 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:180219177A>T uc003mmg.3 - 2 1290 c.795T>A c.(793-795)CCT>CCA p.P265P MGAT1_uc010jlf.2_Silent_p.P265P|MGAT1_uc010jlg.2_Silent_p.P265P|MGAT1_uc003mmh.3_Silent_p.P265P|MGAT1_uc010jlh.2_Silent_p.P265P|MGAT1_uc003mmi.3_Silent_p.P265P NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 265 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCCCAGGCCAGGGAAAAAGT 0.667 13 39 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15507459 15507459 + Silent SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:15507459A>C uc003nbj.2 + 10 2878 c.2634A>C c.(2632-2634)CCA>CCC p.P878P JARID2_uc011div.1_Silent_p.P706P|JARID2_uc011diw.1_Silent_p.P840P NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 878 GSGFP motif. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) GTGGATTCCCAGTAGGAAAAT 0.552 11 39 --- --- --- --- PASS JARID2 3720 broad.mit.edu 37 6 15517446 15517446 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:15517446G>C uc003nbj.2 + 17 3749 c.3505G>C c.(3505-3507)GTG>CTG p.V1169L JARID2_uc011div.1_Missense_Mutation_p.V997L NM_004973 NP_004964 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 protein 1169 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding ovary(2)|lung(1)|pancreas(1) 4 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TCTGCGCCACGTGGAGAAACA 0.607 45 49 --- --- --- --- PASS HFE 3077 broad.mit.edu 37 6 26091106 26091106 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:26091106A>G uc003nfx.1 + 2 274 c.114A>G c.(112-114)TCA>TCG p.S38S HFE_uc003nfy.1_Intron|HFE_uc010jqe.1_Silent_p.S38S|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Silent_p.S38S|HFE_uc003ngb.1_Silent_p.S38S|HFE_uc003ngc.1_Silent_p.S38S|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron NM_000410 NP_000401 Q30201 HFE_HUMAN hemochromatosis protein isoform 1 precursor 38 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding 0 TGGGTGCCTCAGAGCAGGACC 0.537 Hemochromatosis 101 81 --- --- --- --- PASS HIST1H2AE 3012 broad.mit.edu 37 6 26217562 26217562 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:26217562G>C uc003nha.1 + 1 415 c.360G>C c.(358-360)AAG>AAC p.K120N HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 120 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) TGCCTAAGAAGACGGAGAGCC 0.542 12 49 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879955 27879955 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:27879955A>T uc011dkw.1 - 1 143 c.143T>A c.(142-144)GTG>GAG p.V48E NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 48 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACATGTGACACAAGAATTAT 0.388 14 47 --- --- --- --- PASS OR2B6 26212 broad.mit.edu 37 6 27925692 27925692 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:27925692T>C uc011dkx.1 + 1 674 c.674T>C c.(673-675)GTA>GCA p.V225A NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTCCGAGCAGTATTGAGGATA 0.423 36 133 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28294095 28294095 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:28294095C>A uc003nla.2 - 4 1469 c.1069G>T c.(1069-1071)GGC>TGC p.G357C ZNF323_uc003nld.2_Missense_Mutation_p.G357C|ZNF323_uc010jra.2_Missense_Mutation_p.G357C|ZNF323_uc003nlb.2_Missense_Mutation_p.G198C|ZNF323_uc010jrb.2_Missense_Mutation_p.G198C|ZNF323_uc003nlc.2_Missense_Mutation_p.G357C NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 357 C2H2-type 5. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AAGGCTTTGCCACACTCACGA 0.488 49 172 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31598561 31598561 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:31598561G>A uc003nvb.3 + 15 2697 c.2448G>A c.(2446-2448)GAG>GAA p.E816E BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.E816E NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 816 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CTGCGGATGAGGATGACAAGG 0.562 23 19 --- --- --- --- PASS C6orf25 80739 broad.mit.edu 37 6 31692838 31692838 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:31692838C>T uc011doc.1 + 6 713 c.713C>T c.(712-714)GCA>GTA p.A238V C6orf25_uc003nwk.2_3'UTR|C6orf25_uc011dod.1_Missense_Mutation_p.A194V|C6orf25_uc011doe.1_Missense_Mutation_p.A214V|C6orf25_uc003nwo.2_3'UTR|C6orf25_uc003nwn.2_3'UTR NM_138272 NP_612116 O95866 G6B_HUMAN G6B protein isoform G6b-B precursor 238 Cytoplasmic (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity 0 ACCATCTATGCAGTTGTAGTT 0.592 25 35 --- --- --- --- PASS DAXX 1616 broad.mit.edu 37 6 33288803 33288803 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:33288803C>T uc003oec.2 - 3 953 c.749G>A c.(748-750)GGC>GAC p.G250D DAXX_uc011drd.1_Missense_Mutation_p.G175D|DAXX_uc011dre.1_Missense_Mutation_p.G262D|DAXX_uc003oed.2_Missense_Mutation_p.G250D|DAXX_uc010juw.2_Missense_Mutation_p.G175D NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 250 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 TATGACACGGCCGGTCAGTGA 0.587 Mis|F|N Pancreatic neuroendocrine tumors 47 53 --- --- --- --- PASS GRM4 2914 broad.mit.edu 37 6 34008008 34008008 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:34008008C>T uc003oir.3 - 7 1623 c.1453G>A c.(1453-1455)GAT>AAT p.D485N GRM4_uc011dsn.1_Missense_Mutation_p.D438N|GRM4_uc010jvh.2_Missense_Mutation_p.D485N|GRM4_uc010jvi.2_Missense_Mutation_p.D177N|GRM4_uc003oio.2_Missense_Mutation_p.D177N|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.D345N|GRM4_uc003oiq.2_Missense_Mutation_p.D352N|GRM4_uc011dsm.1_Missense_Mutation_p.D316N NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 485 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) TCGGCAGAATCGTTGCGCAGC 0.577 43 134 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51611545 51611545 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:51611545C>A uc003pah.1 - 59 10248 c.9972G>T c.(9970-9972)AAG>AAT p.K3324N PKHD1_uc010jzn.1_Missense_Mutation_p.K1307N|PKHD1_uc003pai.2_Missense_Mutation_p.K3324N NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3324 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) GAAAGTAGAACTTGTTTTTAT 0.343 8 60 --- --- --- --- PASS IL17F 112744 broad.mit.edu 37 6 52103568 52103568 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:52103568G>A uc003pam.1 - 2 285 c.214C>T c.(214-216)CGT>TGT p.R72C IL17F_uc003pal.1_Missense_Mutation_p.R18C NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 72 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) TCGATGTTACGTGACATGGAA 0.433 33 46 --- --- --- --- PASS LRRC1 55227 broad.mit.edu 37 6 53778682 53778682 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:53778682T>C uc003pcd.1 + 11 1298 c.1021T>C c.(1021-1023)TGT>CGT p.C341R NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 341 LRR 15. cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CACTGTGTTCTGTGTACGTGA 0.483 29 68 --- --- --- --- PASS HCRTR2 3062 broad.mit.edu 37 6 55128572 55128572 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:55128572C>G uc003pcl.2 + 4 1029 c.714C>G c.(712-714)CTC>CTG p.L238L HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Silent_p.L173L NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 238 Helical; Name=5; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CACTGTGTCTCATGGTGTTGG 0.383 10 45 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55196607 55196607 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:55196607A>T uc003pcm.1 + 2 203 c.117A>T c.(115-117)AAA>AAT p.K39N NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 39 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATGGATGTAAACATGCTTGGA 0.338 14 24 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69703760 69703760 + Missense_Mutation SNP A C C rs142372047 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:69703760A>C uc003pev.3 + 11 2283 c.1835A>C c.(1834-1836)TAT>TCT p.Y612S BAI3_uc010kak.2_Missense_Mutation_p.Y612S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 612 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) AAAAATTTCTATGCAGGCGAT 0.458 103 48 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70610162 70610162 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:70610162A>G uc003pfc.1 + 4 315 c.198A>G c.(196-198)AGA>AGG p.R66R NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 66 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TTTCTCTAAGACGTGCATTTT 0.269 10 50 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70778330 70778330 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:70778330C>T uc003pfc.1 + 15 1303 c.1186C>T c.(1186-1188)CAA>TAA p.Q396* COL19A1_uc010kam.1_Nonsense_Mutation_p.Q292* NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 396 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCTGGGGATACAAGGCCCCCA 0.423 12 59 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 70978539 70978539 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:70978539G>C uc003pfg.3 - 17 1414 c.1255C>G c.(1255-1257)CGC>GGC p.R419G COL9A1_uc003pfe.3_5'UTR|COL9A1_uc003pff.3_Missense_Mutation_p.R176G NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 419 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TATCCTGAGCGACCTGGTGGA 0.458 9 66 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109854575 109854575 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:109854575T>A uc003ptn.2 - 28 3526 c.3449A>T c.(3448-3450)CAA>CTA p.Q1150L AKD1_uc011eat.1_Missense_Mutation_p.Q229L NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1150 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 ATCATCAACTTGTATAAAAAC 0.373 45 20 --- --- --- --- PASS KIAA1919 91749 broad.mit.edu 37 6 111583574 111583574 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:111583574G>T uc003puv.3 + 2 564 c.142G>T c.(142-144)GGC>TGC p.G48C NM_153369 NP_699200 Q5TF39 NAGT1_HUMAN sodium-dependent glucose transporter 1 48 Helical; (Potential). carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(3) 3 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) ATATTTGAGTGGCTCTGTGAT 0.373 113 51 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151859392 151859392 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:151859392C>A uc003qol.2 + 3 488 c.399C>A c.(397-399)AAC>AAA p.N133K NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 133 Potential. 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TCAAGGAGAACCAGGAATTAA 0.358 28 9 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152706908 152706908 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:152706908C>G uc010kiw.2 - 55 9155 c.8553G>C c.(8551-8553)GAG>GAC p.E2851D SYNE1_uc003qot.3_Missense_Mutation_p.E2858D|SYNE1_uc003qou.3_Missense_Mutation_p.E2851D|SYNE1_uc010kjb.1_Missense_Mutation_p.E2834D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2851 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AATCTGTGAACTCGTGGACCG 0.393 HNSCC(10;0.0054) 69 53 --- --- --- --- PASS SLC22A1 6580 broad.mit.edu 37 6 160551239 160551239 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr6:160551239G>T uc003qtc.2 + 2 620 c.515G>T c.(514-516)AGG>ATG p.R172M SLC22A1_uc003qtd.2_Missense_Mutation_p.R172M NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 172 Cytoplasmic (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) TTTGCAGACAGGTATGTAAAG 0.353 74 30 --- --- --- --- PASS ADAP1 11033 broad.mit.edu 37 7 943784 943784 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:943784G>A uc003sjo.3 - 6 803 c.627C>T c.(625-627)TTC>TTT p.F209F ADAP1_uc003sjm.3_Silent_p.F35F|ADAP1_uc011jvs.1_Silent_p.F114F|ADAP1_uc003sjn.3_Silent_p.F137F|ADAP1_uc010ksc.2_Silent_p.F137F NM_006869 NP_006860 O75689 ADAP1_HUMAN centaurin, alpha 1 209 PH 1. cell surface receptor linked signaling pathway|regulation of ARF GTPase activity cytoplasm|nucleus|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding upper_aerodigestive_tract(1) 1 CATGGTAGATGAAGATGTTAC 0.662 92 16 --- --- --- --- PASS SCIN 85477 broad.mit.edu 37 7 12684270 12684270 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:12684270C>G uc003ssn.3 + 13 2031 c.1821C>G c.(1819-1821)ACC>ACG p.T607T SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Silent_p.T360T NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 607 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) TACTGGAAACCCAGGCTGAAG 0.428 28 5 --- --- --- --- PASS PRPS1L1 221823 broad.mit.edu 37 7 18067020 18067020 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:18067020A>G uc003stz.2 - 1 467 c.386T>C c.(385-387)CTA>CCA p.L129P NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 129 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) AGAAGCATGTAGGTCCATGGT 0.463 86 101 --- --- --- --- PASS FERD3L 222894 broad.mit.edu 37 7 19184887 19184887 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:19184887G>A uc003suo.1 - 1 158 c.99C>T c.(97-99)TTC>TTT p.F33F uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 33 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 CCCCGGGTGCGAAGTCGCAGA 0.582 97 16 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21784505 21784505 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:21784505G>A uc003svc.2 + 52 8386 c.8355G>A c.(8353-8355)ATG>ATA p.M2785I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2785 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 ATAGTCACATGCTGCTTCAAC 0.478 Kartagener_syndrome 24 6 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30492415 30492415 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:30492415C>T uc003tav.2 - 6 1141 c.618G>A c.(616-618)GTG>GTA p.V206V NOD1_uc010kvs.2_Intron NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 206 NACHT.|ATP (Potential). activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 TGGACTTGCCCACCCCAGCAT 0.622 49 101 --- --- --- --- PASS DPY19L1 23333 broad.mit.edu 37 7 35051053 35051053 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:35051053C>A uc003tem.3 - 5 485 c.340G>T c.(340-342)GCC>TCC p.A114S NM_015283 NP_056098 Q2PZI1 D19L1_HUMAN dpy-19-like 1 114 integral to membrane 0 TACCAACTGGCCAAAATTACC 0.323 25 32 --- --- --- --- PASS WBSCR22 114049 broad.mit.edu 37 7 73105283 73105283 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:73105283A>T uc003tyt.2 + 6 458 c.400A>T c.(400-402)AAG>TAG p.K134* WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Nonsense_Mutation_p.K134*|WBSCR22_uc003tyv.2_Nonsense_Mutation_p.K96*|WBSCR22_uc003tyw.1_Intron NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 134 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) TGCTAACAAGAAGTCTGAAAA 0.478 66 125 --- --- --- --- PASS CLIP2 7461 broad.mit.edu 37 7 73790773 73790773 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:73790773A>G uc003uam.2 + 10 2369 c.2042A>G c.(2041-2043)GAG>GGG p.E681G CLIP2_uc003uan.2_Missense_Mutation_p.E646G|CLIP2_uc003uao.2_Missense_Mutation_p.E75G NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 681 Potential. microtubule associated complex skin(3) 3 CACGTGAAGGAGAAGGAGGCC 0.647 32 33 --- --- --- --- PASS GNAI1 2770 broad.mit.edu 37 7 79846737 79846737 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:79846737T>A uc003uhb.1 + 8 1330 c.993T>A c.(991-993)AAT>AAA p.N331K GNAI1_uc011kgt.1_Missense_Mutation_p.N279K NM_002069 NP_002060 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), 331 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ATACTAAGAATGTGCAGTTTG 0.338 31 39 --- --- --- --- PASS SEMA3E 9723 broad.mit.edu 37 7 83029392 83029392 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:83029392G>T uc003uhy.1 - 11 1784 c.1318C>A c.(1318-1320)CGA>AGA p.R440R NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 440 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GCTTCCACTCGATCTACTGCT 0.368 61 144 --- --- --- --- PASS DBF4 10926 broad.mit.edu 37 7 87537254 87537254 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:87537254G>C uc003ujf.1 + 12 2305 c.1801G>C c.(1801-1803)GAA>CAA p.E601Q DBF4_uc003ujh.1_Missense_Mutation_p.E341Q|DBF4_uc003ujg.1_Missense_Mutation_p.E377Q|DBF4_uc011khf.1_Missense_Mutation_p.E368Q NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 601 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) TAAAAGAACTGAATTTATTAC 0.303 34 68 --- --- --- --- PASS STEAP1 26872 broad.mit.edu 37 7 89791272 89791272 + Nonsense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:89791272G>A uc003ujx.2 + 4 842 c.642G>A c.(640-642)TGG>TGA p.W214* STEAP1_uc010lem.2_Nonsense_Mutation_p.W214* NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 214 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) ATGATGTTTGGAGAATGGAGA 0.398 43 80 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92763529 92763529 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:92763529T>C uc003umh.1 - 5 2972 c.1756A>G c.(1756-1758)ATT>GTT p.I586V SAMD9L_uc003umj.1_Missense_Mutation_p.I586V|SAMD9L_uc003umi.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfb.1_Missense_Mutation_p.I586V|SAMD9L_uc003umk.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfc.1_Missense_Mutation_p.I586V|SAMD9L_uc010lfd.1_Missense_Mutation_p.I586V|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 586 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CGTTGATAAATATGTGAGTTT 0.358 61 89 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93073056 93073056 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:93073056A>G uc003umv.1 - 10 1025 c.764T>C c.(763-765)ATT>ACT p.I255T CALCR_uc011kia.1_Missense_Mutation_p.I35T|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.I221T|CALCR_uc003umw.2_Missense_Mutation_p.I221T NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 237 Helical; Name=3; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AAAATGCAAAATCTTGCAGCT 0.433 39 58 --- --- --- --- PASS CALCR 799 broad.mit.edu 37 7 93106913 93106913 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:93106913G>T uc003umv.1 - 5 588 c.327C>A c.(325-327)TCC>TCA p.S109S CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.S91S|CALCR_uc003umw.2_Silent_p.S91S NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 91 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) AGAACTGATAGGACAATACTC 0.423 18 38 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95750514 95750514 + Nonsense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:95750514C>A uc003uof.3 - 18 2208 c.2017G>T c.(2017-2019)GGA>TGA p.G673* SLC25A13_uc003uog.3_Nonsense_Mutation_p.G674*|SLC25A13_uc011kik.1_Nonsense_Mutation_p.G565* NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 673 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TATGGGCCTCCACCAATAGCC 0.453 52 85 --- --- --- --- PASS TECPR1 25851 broad.mit.edu 37 7 97860328 97860328 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:97860328T>C uc003upg.2 - 15 2432 c.2227A>G c.(2227-2229)AGC>GGC p.S743G TECPR1_uc003uph.1_Missense_Mutation_p.S673G NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 743 TECPR 5. integral to membrane protein binding pancreas(1) 1 CTGGGCTCGCTCACGAAGATG 0.697 21 41 --- --- --- --- PASS TRIM4 89122 broad.mit.edu 37 7 99489826 99489826 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:99489826A>T uc003usd.2 - 7 1593 c.1463T>A c.(1462-1464)TTA>TAA p.L488* TRIM4_uc003use.2_Nonsense_Mutation_p.L462*|TRIM4_uc011kjc.1_Nonsense_Mutation_p.L318* NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 488 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) TAAAGATGCTAATGGACTCAA 0.502 32 48 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100389666 100389666 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:100389666G>A uc003uwj.2 + 42 7773 c.7608G>A c.(7606-7608)CCG>CCA p.P2536P ZAN_uc003uwk.2_Silent_p.P2536P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.R529Q NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2536 VWFD 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AATGTAGCCCGGAGCAGCTGG 0.682 29 32 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100679504 100679504 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:100679504C>G uc003uxp.1 + 3 4860 c.4807C>G c.(4807-4809)CAG>GAG p.Q1603E MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1603 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25. 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) CTCCAAAACTCAGGTGACCGC 0.468 126 200 --- --- --- --- PASS AP1S1 1174 broad.mit.edu 37 7 100800704 100800704 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:100800704G>C uc003uxv.3 + 3 339 c.229G>C c.(229-231)GAG>CAG p.E77Q NM_001283 NP_001274 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 77 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) CCAAGACAATGAGCTCATCAC 0.537 6 12 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106508547 106508547 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:106508547G>T uc003vdv.3 + 2 626 c.541G>T c.(541-543)GTG>TTG p.V181L PIK3CG_uc003vdu.2_Missense_Mutation_p.V181L|PIK3CG_uc003vdw.2_Missense_Mutation_p.V181L NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 181 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CCGTGGCTTGGTGACCCCGCG 0.652 32 52 --- --- --- --- PASS GPR37 2861 broad.mit.edu 37 7 124386619 124386619 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:124386619C>G uc003vli.2 - 2 2453 c.1802G>C c.(1801-1803)CGT>CCT p.R601P NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 601 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 GGACATTTCACGGCGTATGGT 0.438 91 120 --- --- --- --- PASS FSCN3 29999 broad.mit.edu 37 7 127240279 127240279 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:127240279C>T uc003vmd.1 + 6 1542 c.1323C>T c.(1321-1323)TCC>TCT p.S441S FSCN3_uc011koh.1_Missense_Mutation_p.L306F|FSCN3_uc010llc.1_Missense_Mutation_p.L440F NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 441 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CAATAACATCCTTTGGCACCT 0.557 36 59 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128496854 128496854 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:128496854C>A uc003vnz.3 + 45 7649 c.7440C>A c.(7438-7440)GTC>GTA p.V2480V FLNC_uc003voa.3_Silent_p.V2447V NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2480 Filamin 22.|Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCATCGATGTCAAGTTCAACG 0.597 30 53 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131895861 131895861 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:131895861G>C uc003vra.3 - 10 2368 c.2139C>G c.(2137-2139)CCC>CCG p.P713P NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 713 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TCACCTCCACGGGCACCAGGA 0.617 5 8 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137076045 137076045 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:137076045T>G uc003vtt.2 - 34 3120 c.3119A>C c.(3118-3120)GAC>GCC p.D1040A DGKI_uc003vtu.2_Missense_Mutation_p.D709A NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 1040 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CAAGTCTGGGTCCCCAGCCTG 0.473 22 117 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138554322 138554322 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:138554322C>A uc011kql.1 - 14 4786 c.4737G>T c.(4735-4737)ACG>ACT p.T1579T KIAA1549_uc011kqi.1_Silent_p.T363T|KIAA1549_uc003vuk.3_Silent_p.T1529T|KIAA1549_uc011kqj.1_Silent_p.T1579T|KIAA1549_uc011kqk.1_Silent_p.T363T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1579 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GCACGCTGGCCGTGGGGTCCA 0.677 O BRAF pilocytic astrocytoma 6 9 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138601769 138601769 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:138601769G>A uc011kql.1 - 2 2652 c.2603C>T c.(2602-2604)CCA>CTA p.P868L KIAA1549_uc003vuk.3_Missense_Mutation_p.P818L|KIAA1549_uc011kqj.1_Missense_Mutation_p.P868L NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 868 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TGTGAGTGATGGGCCCACGAC 0.602 O BRAF pilocytic astrocytoma 7 25 --- --- --- --- PASS UBN2 254048 broad.mit.edu 37 7 138964076 138964076 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:138964076G>T uc011kqr.1 + 13 2037 c.2037G>T c.(2035-2037)AAG>AAT p.K679N NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 679 ovary(1)|skin(1) 2 CAAAGAAAAAGGTGATTCCTG 0.284 36 79 --- --- --- --- PASS BRAF 673 broad.mit.edu 37 7 140449220 140449220 + Splice_Site SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:140449220T>C uc003vwc.3 - 16 1922 c.1861_splice c.e16-1 p.A621_splice NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) TTCTGGTGCCTGTTAGAACAT 0.328 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 27 67 --- --- --- --- PASS TRPV6 55503 broad.mit.edu 37 7 142574226 142574226 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:142574226C>A uc003wbx.1 - 6 913 c.697G>T c.(697-699)GAC>TAC p.D233Y TRPV6_uc003wbw.1_Missense_Mutation_p.D19Y|TRPV6_uc010lou.1_Missense_Mutation_p.D104Y NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 233 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GGCACGAGGTCCAGGGGCTGC 0.567 44 58 --- --- --- --- PASS TRPV6 55503 broad.mit.edu 37 7 142574227 142574227 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:142574227C>G uc003wbx.1 - 6 912 c.696G>C c.(694-696)CTG>CTC p.L232L TRPV6_uc003wbw.1_Silent_p.L18L|TRPV6_uc010lou.1_Silent_p.L103L NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 232 Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GCACGAGGTCCAGGGGCTGCA 0.567 45 58 --- --- --- --- PASS OR2A14 135941 broad.mit.edu 37 7 143826539 143826539 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:143826539C>T uc011kua.1 + 1 334 c.334C>T c.(334-336)CTG>TTG p.L112L NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CGTAGAGTGTCTGATTTTGGT 0.463 110 144 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146805352 146805352 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:146805352G>C uc003weu.1 + 5 1180 c.664G>C c.(664-666)GAA>CAA p.E222Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 222 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTCTGAAAGTGAAGGAGTAAT 0.398 HNSCC(39;0.1) 39 65 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147259265 147259265 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:147259265C>A uc003weu.1 + 12 2329 c.1813C>A c.(1813-1815)CTA>ATA p.L605I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 605 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTACAAACACCTAGGACAGAC 0.438 HNSCC(39;0.1) 33 49 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147600754 147600754 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:147600754C>A uc003weu.1 + 14 2712 c.2196C>A c.(2194-2196)ATC>ATA p.I732I NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 732 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.I732I(1) ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CCTGCGGCATCGAACGCAACT 0.572 HNSCC(39;0.1) 19 26 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150174193 150174193 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:150174193T>A uc003whj.2 + 5 1653 c.1323T>A c.(1321-1323)ATT>ATA p.I441I NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 441 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CCCTGAACATTGTCCTTGTGG 0.517 43 76 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151874731 151874731 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:151874731T>A uc003wla.2 - 38 8026 c.7807A>T c.(7807-7809)AGA>TGA p.R2603* MLL3_uc003wkz.2_Nonsense_Mutation_p.R1664*|MLL3_uc003wky.2_Nonsense_Mutation_p.R112* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2603 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCTGTGTGTCTAGGGCCCGGA 0.552 N medulloblastoma 72 108 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151878026 151878026 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:151878026T>A uc003wla.2 - 36 7138 c.6919A>T c.(6919-6921)AGA>TGA p.R2307* MLL3_uc003wkz.2_Nonsense_Mutation_p.R1368*|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2307 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) GACTGAGATCTTGGAGTCATT 0.517 N medulloblastoma 49 82 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154684082 154684082 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:154684082C>A uc003wlk.2 + 26 2619 c.2490C>A c.(2488-2490)AGC>AGA p.S830R DPP6_uc003wli.2_Missense_Mutation_p.S766R|DPP6_uc003wlm.2_Missense_Mutation_p.S768R|DPP6_uc011kvq.1_Missense_Mutation_p.S723R NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 830 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCAGCTCCAGCCTCAAACAGC 0.532 44 54 --- --- --- --- PASS NOM1 64434 broad.mit.edu 37 7 156742848 156742848 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:156742848G>T uc003wmy.2 + 1 432 c.417G>T c.(415-417)TCG>TCT p.S139S NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 139 Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGGACCCCTCGCCTCCCAGGA 0.751 8 8 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 156976589 156976589 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:156976589G>C uc010lqs.2 + 9 1321 c.1009G>C c.(1009-1011)GGG>CGG p.G337R UBE3C_uc003wnf.2_Missense_Mutation_p.G294R|UBE3C_uc003wng.2_Missense_Mutation_p.G337R NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 337 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CTCTGAGGAAGGGCTGCTGGT 0.468 103 145 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157903597 157903597 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:157903597G>A uc003wno.2 - 10 1688 c.1567C>T c.(1567-1569)CCC>TCC p.P523S PTPRN2_uc003wnp.2_Missense_Mutation_p.P506S|PTPRN2_uc003wnq.2_Intron|PTPRN2_uc003wnr.2_Missense_Mutation_p.P485S|PTPRN2_uc011kwa.1_Missense_Mutation_p.P546S NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 523 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CCTTCCTCGGGGCGCAGGGGG 0.677 4 2 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2057233 2057233 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:2057233C>A uc003wpx.3 + 25 3229 c.3091C>A c.(3091-3093)CGG>AGG p.R1031R MYOM2_uc011kwi.1_Silent_p.R456R NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1031 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGATAAGGGGCGGGTTCGCTT 0.443 3 60 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2855586 2855586 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:2855586C>A uc011kwk.1 - 54 8717 c.8327G>T c.(8326-8328)CGA>CTA p.R2776L CSMD1_uc011kwj.1_Missense_Mutation_p.R2105L|CSMD1_uc010lrg.2_Missense_Mutation_p.R786L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2776 Extracellular (Potential).|Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACACTGGGCTCGAGACACGCC 0.552 26 17 --- --- --- --- PASS AMAC1L2 83650 broad.mit.edu 37 8 11189423 11189423 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:11189423G>T uc003wtp.1 + 1 929 c.808G>T c.(808-810)GTG>TTG p.V270L NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 270 Helical; (Potential). integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CTTCACATGTGTGGGCTATGC 0.587 92 77 --- --- --- --- PASS INTS10 55174 broad.mit.edu 37 8 19700402 19700402 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:19700402G>A uc003wzj.2 + 14 1814 c.1683G>A c.(1681-1683)ATG>ATA p.M561I NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 561 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) AGGCTATCATGCCATACTGCC 0.353 55 40 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20008219 20008219 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:20008219A>G uc011kyq.1 - 12 1523 c.1052T>C c.(1051-1053)ATT>ACT p.I351T SLC18A1_uc003wzl.2_Missense_Mutation_p.I138T|SLC18A1_uc003wzm.2_Missense_Mutation_p.I351T|SLC18A1_uc011kyr.1_Missense_Mutation_p.I351T|SLC18A1_uc003wzn.2_Missense_Mutation_p.I319T|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.I319T NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 351 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) GTTGGTGCCAATGAGGTAGGA 0.498 54 35 --- --- --- --- PASS EBF2 64641 broad.mit.edu 37 8 25766020 25766020 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:25766020T>A uc003xes.1 - 7 620 c.603A>T c.(601-603)GCA>GCT p.A201A PPP2R2A_uc003xek.2_Intron NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 201 Interaction with DNA (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TTGGGTTTCCTGCTGTTTTCA 0.368 19 10 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 29053708 29053708 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:29053708G>A uc003xhh.3 - 3 217 c.158C>T c.(157-159)CCG>CTG p.P53L KIF13B_uc003xhj.2_Intron|KIF13B_uc010lvf.1_5'UTR|KIF13B_uc003xhk.2_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 53 Kinesin-motor. microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TCTTACCTTCGGCTGGCCCCT 0.318 3 6 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39495194 39495194 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:39495194C>A uc003xni.2 + 9 799 c.799C>A c.(799-801)CGG>AGG p.R267R ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.R243R NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 267 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TCTCATCCTACGGCCCCATGA 0.343 21 191 --- --- --- --- PASS ADAM18 8749 broad.mit.edu 37 8 39495196 39495196 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:39495196G>A uc003xni.2 + 9 801 c.801G>A c.(799-801)CGG>CGA p.R267R ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Silent_p.R243R NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN a disintegrin and metalloprotease domain 18 267 Peptidase M12B.|Extracellular (Potential). cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1) 6 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TCATCCTACGGCCCCATGACA 0.348 21 189 --- --- --- --- PASS CHRNB3 1142 broad.mit.edu 37 8 42587211 42587211 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:42587211T>A uc003xpi.1 + 5 889 c.761T>A c.(760-762)GTG>GAG p.V254E NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 254 Helical; (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ACAGTTCTTGTGTTCTATTTA 0.428 23 134 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55534029 55534029 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:55534029G>A uc003xsd.1 + 2 651 c.503G>A c.(502-504)CGT>CAT p.R168H RP1_uc011ldy.1_Missense_Mutation_p.R168H NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 168 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGACGAGGCGTGCGGTTCTT 0.652 96 69 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55540535 55540535 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:55540535G>T uc003xsd.1 + 4 4241 c.4093G>T c.(4093-4095)GGT>TGT p.G1365C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1365 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GTTAGAAAGAGGTGATGACAT 0.328 56 36 --- --- --- --- PASS MOS 4342 broad.mit.edu 37 8 57025720 57025720 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:57025720G>A uc011leb.1 - 1 822 c.822C>T c.(820-822)ACC>ACT p.T274T NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 274 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGCCTGCTTGGTAGTCATTT 0.622 14 61 --- --- --- --- PASS MOS 4342 broad.mit.edu 37 8 57025733 57025733 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:57025733C>G uc011leb.1 - 1 809 c.809G>C c.(808-810)TGG>TCG p.W270S NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 270 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) AGTCATTTGCCAGAGAGTGAT 0.617 16 67 --- --- --- --- PASS MOS 4342 broad.mit.edu 37 8 57026206 57026206 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:57026206C>A uc011leb.1 - 1 336 c.336G>T c.(334-336)CTG>CTT p.L112L NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 112 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) TATCGTGGCGCAGCCTTGCTA 0.592 41 146 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59410832 59410832 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:59410832T>A uc003xtm.3 - 2 340 c.277A>T c.(277-279)AAA>TAA p.K93* NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 93 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TCAAAATATTTTCCGTGGCAC 0.343 Neonatal_Giant_Cell_Hepatitis 87 49 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59514042 59514042 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:59514042G>C uc003xtt.2 - 15 1392 c.1178C>G c.(1177-1179)TCT>TGT p.S393C NSMAF_uc011lee.1_Missense_Mutation_p.S424C|NSMAF_uc003xtu.2_Missense_Mutation_p.S393C NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 393 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) ACCCGGGGAAGAGTAGTGACT 0.343 10 43 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61757513 61757513 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:61757513G>C uc003xue.2 + 22 5418 c.4941G>C c.(4939-4941)CTG>CTC p.L1647L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1647 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAACCATCCTGGTGTACTGTC 0.488 44 153 --- --- --- --- PASS TTPA 7274 broad.mit.edu 37 8 63978502 63978502 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:63978502G>C uc003xux.1 - 3 545 c.513C>G c.(511-513)ATC>ATG p.I171M NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 171 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) CGGATGGAGTGATTTGAAAAG 0.373 19 60 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69358584 69358584 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:69358584G>T uc010lyz.2 + 3 287 c.238G>T c.(238-240)GAT>TAT p.D80Y C8orf34_uc010lyx.1_Missense_Mutation_p.D80Y|C8orf34_uc010lyy.1_Missense_Mutation_p.D80Y|C8orf34_uc003xyb.2_Missense_Mutation_p.D55Y NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 80 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AACAAGAAGGGATTTCAGAAG 0.338 28 115 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70515555 70515555 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:70515555G>T uc010lza.1 + 11 1907 c.1190G>T c.(1189-1191)AGG>ATG p.R397M SULF1_uc003xyd.2_Missense_Mutation_p.R397M|SULF1_uc003xye.2_Missense_Mutation_p.R397M|SULF1_uc003xyf.2_Missense_Mutation_p.R397M|SULF1_uc003xyg.2_Missense_Mutation_p.R397M|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 397 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) CCAGGTAACAGGTGTGTCATT 0.562 20 121 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767035 77767035 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:77767035G>A uc003yav.2 + 10 8130 c.7743G>A c.(7741-7743)CTG>CTA p.L2581L ZFHX4_uc003yau.1_Silent_p.L2626L|ZFHX4_uc003yaw.1_Silent_p.L2581L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2581 Homeobox 3. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATACTTGCTGGATTCCAATC 0.483 HNSCC(33;0.089) 34 26 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767965 77767965 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:77767965G>A uc003yav.2 + 10 9060 c.8673G>A c.(8671-8673)ATG>ATA p.M2891I ZFHX4_uc003yau.1_Missense_Mutation_p.M2936I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2891I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2891 Homeobox 4. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAACGCAAATGAGCAATCTTC 0.473 HNSCC(33;0.089) 10 66 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87081736 87081736 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:87081736G>C uc011lfy.1 - 1 116 c.116C>G c.(115-117)GCG>GGG p.A39G NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 39 ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CGCCTGGGCCGCCGCCTCGGG 0.701 8 26 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87226736 87226736 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:87226736A>G uc003ydq.1 - 4 1417 c.1319T>C c.(1318-1320)ATA>ACA p.I440T SLC7A13_uc003ydr.1_3'UTR NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 440 Helical; Name=12; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 TTTAAAATGTATTAAAGGTAT 0.358 12 41 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87591433 87591433 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:87591433G>A uc003ydx.2 - 16 1875 c.1829C>T c.(1828-1830)GCC>GTC p.A610V CNGB3_uc010maj.2_Missense_Mutation_p.A467V NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 610 Cytoplasmic (Potential).|cGMP (By similarity). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 AAACCCGTGGGCCACCACATT 0.458 145 308 --- --- --- --- PASS RUNX1T1 862 broad.mit.edu 37 8 93017356 93017356 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:93017356C>A uc003yfd.2 - 5 812 c.728G>T c.(727-729)CGA>CTA p.R243L RUNX1T1_uc003yfc.1_Missense_Mutation_p.R216L|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R206L|RUNX1T1_uc010mao.2_Missense_Mutation_p.R216L|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R254L|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R206L|RUNX1T1_uc003yff.1_Missense_Mutation_p.R206L NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 243 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) GTCTGGAGTTCGCCTCTTCCC 0.522 43 129 --- --- --- --- PASS KIAA1429 25962 broad.mit.edu 37 8 95501056 95501056 + Silent SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:95501056T>G uc003ygo.1 - 24 5330 c.5317A>C c.(5317-5319)AGA>CGA p.R1773R KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1773 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) CCACGACCTCTAGAAGCACGG 0.468 30 67 --- --- --- --- PASS ZFPM2 23414 broad.mit.edu 37 8 106456566 106456566 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:106456566A>C uc003ymd.2 + 3 281 c.258A>C c.(256-258)AAA>AAC p.K86N NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 86 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGTCAGAGAAACCGGGGCAAC 0.443 16 6 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110498988 110498988 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:110498988A>G uc003yne.2 + 59 9922 c.9818A>G c.(9817-9819)GAG>GGG p.E3273G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3273 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGTTGGTCTGAGGACTCTTTT 0.418 HNSCC(38;0.096) 67 210 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113353710 113353710 + Nonsense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:113353710G>C uc003ynu.2 - 42 6807 c.6648C>G c.(6646-6648)TAC>TAG p.Y2216* CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1418*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y2176*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y2112* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2216 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCTTACCTTGGTATACAATAT 0.294 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 15 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113562923 113562923 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:113562923G>T uc003ynu.2 - 27 4700 c.4541C>A c.(4540-4542)TCT>TAT p.S1514Y CSMD3_uc003yns.2_Missense_Mutation_p.S786Y|CSMD3_uc003ynt.2_Missense_Mutation_p.S1474Y|CSMD3_uc011lhx.1_Missense_Mutation_p.S1410Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1514 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TGCAAATCCAGATTTGCTAAT 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 54 15 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121293237 121293237 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:121293237A>T uc003yox.2 + 31 4028 c.3763A>T c.(3763-3765)ACC>TCC p.T1255S COL14A1_uc003yoz.2_Missense_Mutation_p.T220S NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1255 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GGAGCCTGGTACCTTCAATGT 0.358 19 66 --- --- --- --- PASS TOP1MT 116447 broad.mit.edu 37 8 144406793 144406793 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:144406793C>T uc003yxz.2 - 6 697 c.678G>A c.(676-678)TCG>TCA p.S226S TOP1MT_uc011lkd.1_Silent_p.S128S|TOP1MT_uc011lke.1_Silent_p.S128S|TOP1MT_uc010mfb.2_Silent_p.S128S|TOP1MT_uc011lkf.1_Silent_p.S21S|TOP1MT_uc010mfd.1_Silent_p.S21S NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 226 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CGGGGATCTTCGAGTCCCTGC 0.587 40 230 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144994835 144994835 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:144994835C>A uc003zaf.1 - 32 9735 c.9565G>T c.(9565-9567)GAC>TAC p.D3189Y PLEC_uc003zab.1_Missense_Mutation_p.D3052Y|PLEC_uc003zac.1_Missense_Mutation_p.D3056Y|PLEC_uc003zad.2_Missense_Mutation_p.D3052Y|PLEC_uc003zae.1_Missense_Mutation_p.D3020Y|PLEC_uc003zag.1_Missense_Mutation_p.D3030Y|PLEC_uc003zah.2_Missense_Mutation_p.D3038Y|PLEC_uc003zaj.2_Missense_Mutation_p.D3079Y NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3189 Globular 2.|Plectin 7. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACGGCCATGTCGGATGGCAGC 0.667 16 86 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144996841 144996841 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:144996841C>A uc003zaf.1 - 31 7837 c.7667G>T c.(7666-7668)CGC>CTC p.R2556L PLEC_uc003zab.1_Missense_Mutation_p.R2419L|PLEC_uc003zac.1_Missense_Mutation_p.R2423L|PLEC_uc003zad.2_Missense_Mutation_p.R2419L|PLEC_uc003zae.1_Missense_Mutation_p.R2387L|PLEC_uc003zag.1_Missense_Mutation_p.R2397L|PLEC_uc003zah.2_Missense_Mutation_p.R2405L|PLEC_uc003zaj.2_Missense_Mutation_p.R2446L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2556 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GAGCTCCGTGCGGTGCAGCTT 0.672 13 50 --- --- --- --- PASS GPR172A 79581 broad.mit.edu 37 8 145584561 145584561 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr8:145584561C>T uc003zcc.1 + 5 1381 c.1224C>T c.(1222-1224)GCC>GCT p.A408A FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.A408A|GPR172A_uc003zce.1_Silent_p.A408A|GPR172A_uc010mfy.1_Silent_p.A408A|GPR172A_uc003zcf.1_Silent_p.A408A|GPR172A_uc011llc.1_Silent_p.A320A NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 408 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) TGCTGGCAGCCGGCGTGGCCA 0.642 29 114 --- --- --- --- PASS KIAA2026 158358 broad.mit.edu 37 9 5920586 5920586 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:5920586T>C uc003zjq.3 - 8 5626 c.5410A>G c.(5410-5412)AAT>GAT p.N1804D KIAA2026_uc010mht.2_Missense_Mutation_p.N979D NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1804 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TGAGGTTTATTTGTGTTTACA 0.383 276 142 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14851542 14851542 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:14851542C>T uc003zlm.2 - 6 1482 c.892G>A c.(892-894)GCA>ACA p.A298T FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 298 CSPG 1. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GCCATGAATGCAGCCTTTGGA 0.438 59 37 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971006 21971006 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:21971006C>G uc003zpk.2 - 2 564 c.352G>C c.(352-354)GCT>CCT p.A118P MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G173A NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 118 ANK 4. A -> T (in CMM2). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.A118fs*10(1)|p.A118V(1)|p.A118fs*27(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGCTCCTCAGCCAGGTCCACG 0.731 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 14 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79952371 79952371 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:79952371G>T uc004akr.2 + 47 6556 c.6296G>T c.(6295-6297)TGG>TTG p.W2099L VPS13A_uc004akp.3_Missense_Mutation_p.W2099L|VPS13A_uc004akq.3_Missense_Mutation_p.W2099L|VPS13A_uc004aks.2_Missense_Mutation_p.W2060L|VPS13A_uc004akt.2_Missense_Mutation_p.W439L NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2099 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GAAGATGGTTGGGATTTACCA 0.328 42 17 --- --- --- --- PASS GNA14 9630 broad.mit.edu 37 9 80144079 80144079 + Missense_Mutation SNP G A A rs45466295 byFrequency TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:80144079G>A uc004aku.2 - 2 738 c.215C>T c.(214-216)ACG>ATG p.T72M NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 72 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 AACCAGCTTCGTGAACCCCTT 0.448 97 207 --- --- --- --- PASS GABBR2 9568 broad.mit.edu 37 9 101056152 101056152 + Missense_Mutation SNP C T T rs79773606 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:101056152C>T uc004ays.2 - 18 2731 c.2575G>A c.(2575-2577)GAT>AAT p.D859N NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 859 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GGATTTTGATCGAGGTGATTT 0.383 51 40 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117853048 117853048 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:117853048T>A uc004bjj.3 - 2 612 c.250A>T c.(250-252)AGC>TGC p.S84C TNC_uc010mvf.2_Missense_Mutation_p.S84C NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 84 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 AAGCTTTCGCTGGGCTCTGAA 0.582 129 81 --- --- --- --- PASS PKN3 29941 broad.mit.edu 37 9 131479170 131479170 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:131479170C>A uc004bvw.2 + 16 2346 c.1953C>A c.(1951-1953)ATC>ATA p.I651I PKN3_uc010myh.2_Silent_p.I651I|PKN3_uc011mbk.1_Silent_p.I201I NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 651 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 TGATGCAGATCCACGAGGATG 0.597 57 34 --- --- --- --- PASS UBAC1 10422 broad.mit.edu 37 9 138830184 138830184 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:138830184C>T uc004cgt.2 - 9 1204 c.986G>A c.(985-987)CGG>CAG p.R329Q UBAC1_uc004cgs.1_Missense_Mutation_p.R329Q|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 329 Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) AGAGGGCTTCCGGTCCCCCAG 0.622 23 9 --- --- --- --- PASS PMPCA 23203 broad.mit.edu 37 9 139311657 139311657 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr9:139311657G>A uc004chl.2 + 7 893 c.888G>A c.(886-888)GGG>GGA p.G296G PMPCA_uc010nbl.2_Silent_p.G196G|PMPCA_uc011mdz.1_Silent_p.G165G|PMPCA_uc004chm.1_Silent_p.G46G|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 296 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) ACACTGGGGGGATTGCCAAGG 0.612 24 10 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25887462 25887462 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:25887462G>A uc001isj.2 + 11 2967 c.2907G>A c.(2905-2907)AAG>AAA p.K969K GPR158_uc001isk.2_Silent_p.K344K NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 969 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AGCCAAGAAAGCCTCAGAAAT 0.453 86 30 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43316033 43316033 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:43316033G>T uc001jaj.2 + 17 3205 c.2847G>T c.(2845-2847)AGG>AGT p.R949S NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 949 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TAGGGTGGAGGAGGTTTCAGA 0.458 19 57 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50856650 50856650 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:50856650A>T uc001jhz.2 + 9 1532 c.1379A>T c.(1378-1380)CAC>CTC p.H460L CHAT_uc001jhv.1_Missense_Mutation_p.H342L|CHAT_uc001jhx.1_Missense_Mutation_p.H342L|CHAT_uc001jhy.1_Missense_Mutation_p.H342L|CHAT_uc001jia.2_Missense_Mutation_p.H342L|CHAT_uc010qgs.1_Missense_Mutation_p.H342L NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 460 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTGCTCAAGCACGTGTGAGTC 0.577 17 6 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50947856 50947856 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:50947856G>T uc001jie.2 - 17 2312 c.2170C>A c.(2170-2172)CCC>ACC p.P724T OGDHL_uc009xog.2_Missense_Mutation_p.P751T|OGDHL_uc010qgt.1_Missense_Mutation_p.P667T|OGDHL_uc010qgu.1_Missense_Mutation_p.P515T NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 724 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 AGGGCATTGGGGCTGGCCATG 0.572 22 34 --- --- --- --- PASS DKK1 22943 broad.mit.edu 37 10 54074370 54074370 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:54074370C>A uc001jjr.2 + 1 330 c.176C>A c.(175-177)GCA>GAA p.A59E uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 59 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 CCAGGCTCTGCAGTCAGCGCC 0.632 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 50 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55568769 55568769 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:55568769G>T uc010qhs.1 - 37 5451 c.5056C>A c.(5056-5058)CCA>ACA p.P1686T PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.P1679T|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) tcttcttgtggctcctcttTC 0.328 HNSCC(58;0.16) 5 4 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55892724 55892724 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:55892724T>A uc001jju.1 - 15 2223 c.1828A>T c.(1828-1830)AAT>TAT p.N610Y PCDH15_uc010qhq.1_Missense_Mutation_p.N615Y|PCDH15_uc010qhr.1_Missense_Mutation_p.N610Y|PCDH15_uc010qhs.1_Missense_Mutation_p.N622Y|PCDH15_uc010qht.1_Missense_Mutation_p.N617Y|PCDH15_uc010qhu.1_Missense_Mutation_p.N610Y|PCDH15_uc001jjv.1_Missense_Mutation_p.N588Y|PCDH15_uc010qhv.1_Missense_Mutation_p.N610Y|PCDH15_uc010qhw.1_Missense_Mutation_p.N573Y|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.N615Y|PCDH15_uc010qhz.1_Missense_Mutation_p.N610Y|PCDH15_uc010qia.1_Missense_Mutation_p.N588Y|PCDH15_uc010qib.1_Missense_Mutation_p.N588Y|PCDH15_uc001jjw.2_Missense_Mutation_p.N610Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 610 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GGGCTTTGATTATTTGGTGGA 0.408 HNSCC(58;0.16) 18 43 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61012727 61012727 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:61012727G>A uc001jkn.2 - 13 1498 c.1364C>T c.(1363-1365)CCA>CTA p.P455L FAM13C_uc001jko.2_Missense_Mutation_p.P357L|FAM13C_uc010qid.1_Missense_Mutation_p.P371L|FAM13C_uc010qie.1_Missense_Mutation_p.P372L|FAM13C_uc010qif.1_Missense_Mutation_p.P477L NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 455 ovary(2) 2 GCTTCCCTGTGGACGGTCTTC 0.483 27 100 --- --- --- --- PASS RHOBTB1 9886 broad.mit.edu 37 10 62648181 62648181 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:62648181G>C uc001jli.2 - 7 1683 c.1245C>G c.(1243-1245)CTC>CTG p.L415L RHOBTB1_uc001jlh.2_Silent_p.L415L|RHOBTB1_uc001jlj.2_Silent_p.L415L|RHOBTB1_uc001jlk.2_Silent_p.L415L|RHOBTB1_uc009xpe.1_Silent_p.L353L|RHOBTB1_uc001jll.2_Silent_p.L165L NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 415 BTB 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) AAAGAAACTGGAGCAGGGTCC 0.527 28 57 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64960338 64960338 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:64960338C>A uc001jmn.2 - 11 5474 c.5174G>T c.(5173-5175)GGG>GTG p.G1725V JMJD1C_uc001jml.2_Missense_Mutation_p.G1506V|JMJD1C_uc001jmm.2_Missense_Mutation_p.G1437V|JMJD1C_uc010qiq.1_Missense_Mutation_p.G1543V|JMJD1C_uc009xpi.2_Missense_Mutation_p.G1543V|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1725 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TAAATTAGGCCCTATCTCACA 0.403 23 27 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 69407234 69407234 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:69407234G>T uc009xpn.1 - 2 161 c.38C>A c.(37-39)CCT>CAT p.P13H CTNNA3_uc001jmw.2_Missense_Mutation_p.P13H|CTNNA3_uc001jmx.3_Missense_Mutation_p.P13H|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.P25H NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 13 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CAGATCCTGAGGATCGATATT 0.383 43 145 --- --- --- --- PASS NODAL 4838 broad.mit.edu 37 10 72195571 72195571 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:72195571G>T uc001jrc.2 - 2 404 c.362C>A c.(361-363)ACA>AAA p.T121K NM_018055 NP_060525 Q96S42 NODAL_HUMAN nodal precursor 121 growth extracellular space cytokine activity|growth factor activity large_intestine(1)|kidney(1) 2 AGCCTGCTCTGTGTCGGGCTT 0.567 37 47 --- --- --- --- PASS AP3M1 26985 broad.mit.edu 37 10 75886051 75886051 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:75886051C>A uc001jwf.2 - 7 1296 c.866G>T c.(865-867)GGC>GTC p.G289V AP3M1_uc001jwg.2_Missense_Mutation_p.G289V|AP3M1_uc001jwh.2_Missense_Mutation_p.G289V|AP3M1_uc010qla.1_Missense_Mutation_p.G235V NM_207012 NP_996895 Q9Y2T2 AP3M1_HUMAN adaptor-related protein complex 3, mu 1 subunit 289 MHD. protein targeting to lysosome|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus|lysosome protein binding 0 Prostate(51;0.0112) ATCAAATCTGCCGCAAGAACT 0.373 11 53 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85992085 85992085 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:85992085G>T uc001kcz.1 - 4 1492 c.1470C>A c.(1468-1470)CCC>CCA p.P490P NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 490 Fibronectin type-III.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 ACTTGGTCTTGGGCAACAGCC 0.572 14 12 --- --- --- --- PASS KIF20B 9585 broad.mit.edu 37 10 91465176 91465176 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:91465176C>T uc001kgs.1 + 2 197 c.125C>T c.(124-126)TCC>TTC p.S42F KIF20B_uc001kgr.1_Missense_Mutation_p.S42F NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 42 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 CATGAATTTTCCTTAGTTGCT 0.323 43 42 --- --- --- --- PASS PCGF5 84333 broad.mit.edu 37 10 93008287 93008287 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:93008287A>G uc001khh.2 + 4 482 c.235A>G c.(235-237)ATA>GTA p.I79V PCGF5_uc010qnk.1_Missense_Mutation_p.I79V|PCGF5_uc001khi.2_Missense_Mutation_p.I79V NM_032373 NP_115749 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding lung(1) 1 AGAGGAAATTATATTTAAGCT 0.358 78 76 --- --- --- --- PASS CYP26C1 340665 broad.mit.edu 37 10 94824182 94824182 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:94824182C>T uc010qns.1 + 4 750 c.750C>T c.(748-750)GCC>GCT p.A250A CYP26C1_uc009xud.2_Intron NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 250 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) TGGAGGGGGCCATTTCTGAGA 0.612 28 40 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95790939 95790939 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:95790939C>A uc001kjk.2 + 2 770 c.136C>A c.(136-138)CGA>AGA p.R46R PLCE1_uc010qnx.1_Silent_p.R46R NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 46 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) TACTGTCAGACGAAGTGGGGA 0.433 28 32 --- --- --- --- PASS POLL 27343 broad.mit.edu 37 10 103339394 103339394 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:103339394G>C uc001ktg.1 - 8 2310 c.1544C>G c.(1543-1545)TCC>TGC p.S515C DPCD_uc010qpz.1_Intron|POLL_uc001ktd.1_Missense_Mutation_p.S188C|POLL_uc001kte.1_Missense_Mutation_p.S207C|POLL_uc001kth.1_Missense_Mutation_p.S240C|POLL_uc001kti.1_Missense_Mutation_p.S515C|POLL_uc001ktj.1_Missense_Mutation_p.S515C|POLL_uc001ktf.2_Missense_Mutation_p.S423C|POLL_uc001ktk.1_Missense_Mutation_p.S254C|POLL_uc010qqa.1_Missense_Mutation_p.S254C|POLL_uc010qqb.1_RNA|POLL_uc001ktm.2_Missense_Mutation_p.S515C|POLL_uc001ktl.2_Missense_Mutation_p.S427C|POLL_uc010qqc.1_Missense_Mutation_p.S207C NM_013274 NP_037406 Q9UGP5 DPOLL_HUMAN DNA-directed DNA polymerase lambda 515 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding 0 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGCTCGCATGGAGCGGTTGAA 0.632 DNA_polymerases_(catalytic_subunits) 49 65 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115389450 115389450 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:115389450A>G uc001laj.2 - 19 2101 c.1937T>C c.(1936-1938)CTC>CCC p.L646P NRAP_uc009xyb.2_5'Flank|NRAP_uc001lak.2_Missense_Mutation_p.L611P|NRAP_uc001lal.3_Missense_Mutation_p.L646P NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 646 Nebulin 15. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GTCACTGGCGAGAGTTTGGGC 0.483 22 80 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118318738 118318738 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:118318738A>G uc001lcm.2 + 10 1046 c.1003A>G c.(1003-1005)ACA>GCA p.T335A NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 335 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TCCTGGGAAAACAAATGATGT 0.378 25 37 --- --- --- --- PASS HMX3 340784 broad.mit.edu 37 10 124896747 124896747 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:124896747G>A uc010quc.1 + 2 574 c.574G>A c.(574-576)GCG>ACG p.A192T NM_001105574 NP_001099044 A6NHT5 HMX3_HUMAN H6 family homeobox 3 192 cell differentiation nucleus sequence-specific DNA binding transcription factor activity 0 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AGGCGAAGCGGCGCCAGGCGC 0.662 7 4 --- --- --- --- PASS STK32C 282974 broad.mit.edu 37 10 134121179 134121179 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:134121179C>A uc001lle.1 - 1 299 c.159G>T c.(157-159)TCG>TCT p.S53S STK32C_uc001lld.1_5'Flank|STK32C_uc010quu.1_Intron|STK32C_uc009ybc.1_Intron|STK32C_uc009ybd.1_Intron NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 53 ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) GGCGCGGCTGCGAGCGGACAT 0.398 31 45 --- --- --- --- PASS C10orf91 170393 broad.mit.edu 37 10 134258757 134258757 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:134258757T>A uc001llm.2 + 1 44 c.4T>A c.(4-6)TGG>AGG p.W2R NM_173541 NP_775812 Q5T1B1 CJ091_HUMAN hypothetical protein LOC170393 2 ovary(1) 1 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162) AGCTGAAATGTGGAGTTTCCT 0.622 3 6 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1082714 1082714 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:1082714A>T uc001lsx.1 + 15 1990 c.1963A>T c.(1963-1965)AAC>TAC p.N655Y NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 655 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GCATGTCTGCAGTGAGTGCCG 0.697 15 15 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1281295 1281295 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:1281295C>G uc009ycr.1 + 68 18040 c.17914C>G c.(17914-17916)CCA>GCA p.P5972A MUC5B_uc001ltb.2_Missense_Mutation_p.P5638A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5635 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGCATCCTGCCCAGATGTGTC 0.617 34 10 --- --- --- --- PASS DUSP8 1850 broad.mit.edu 37 11 1578659 1578659 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:1578659G>C uc001lts.2 - 7 1095 c.967C>G c.(967-969)CCT>GCT p.P323A NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 323 Tyrosine-protein phosphatase.|Pro-rich. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) CCGGCGGCAGGACTGGGCGGA 0.711 12 8 --- --- --- --- PASS OR51F2 119694 broad.mit.edu 37 11 4843409 4843409 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:4843409T>G uc010qyn.1 + 1 794 c.794T>G c.(793-795)TTC>TGC p.F265C NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 265 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GTTTCCATCTTCTACCTCCCT 0.478 46 35 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903564 4903564 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:4903564G>A uc010qyp.1 + 1 516 c.516G>A c.(514-516)GTG>GTA p.V172V NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTCCTGGTGATAGGGCTGG 0.507 93 51 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020636 5020636 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:5020636G>T uc010qyu.1 + 1 424 c.424G>T c.(424-426)GTA>TTA p.V142L NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CACCAACAGTGTAATTGGCAA 0.493 126 65 --- --- --- --- PASS OR51M1 390059 broad.mit.edu 37 11 5411314 5411314 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:5411314C>A uc010qzc.1 + 1 686 c.686C>A c.(685-687)TCC>TAC p.S229Y HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 229 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCGCACTGTCCTATGGACTC 0.537 41 24 --- --- --- --- PASS UBQLN3 50613 broad.mit.edu 37 11 5530345 5530345 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:5530345A>G uc001may.1 - 2 530 c.444T>C c.(442-444)CGT>CGC p.R148R HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 148 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGAAGCCACGATAGGCCA 0.582 29 17 --- --- --- --- PASS UBQLNL 143630 broad.mit.edu 37 11 5537581 5537581 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:5537581T>A uc001maz.3 - 1 376 c.91A>T c.(91-93)ACT>TCT p.T31S HBG2_uc001mak.1_Intron NM_145053 NP_659490 Q8IYU4 UBQLN_HUMAN ubiquilin-like 31 Ubiquitin-like. large_intestine(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) ATCACTCGAGTGGCACTTGAA 0.483 50 30 --- --- --- --- PASS OR10A6 390093 broad.mit.edu 37 11 7950101 7950101 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:7950101C>A uc010rbh.1 - 1 109 c.109G>T c.(109-111)GTG>TTG p.V37L NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ATCAGGGTCACCAGATAAATA 0.458 55 44 --- --- --- --- PASS C11orf16 56673 broad.mit.edu 37 11 8948685 8948685 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:8948685C>G uc001mhb.3 - 4 485 c.361G>C c.(361-363)GCT>CCT p.A121P C11orf16_uc001mhc.3_Missense_Mutation_p.A121P NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 121 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) ACAAGAGGAGCCTCGAATTCC 0.522 12 14 --- --- --- --- PASS GAS2 2620 broad.mit.edu 37 11 22747905 22747905 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:22747905A>G uc009yie.2 + 4 641 c.335A>G c.(334-336)AAT>AGT p.N112S GAS2_uc001mqm.2_Missense_Mutation_p.N112S|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.N112S NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 112 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 GCCAGAGACAATACAGCAAAT 0.398 46 36 --- --- --- --- PASS GAS2 2620 broad.mit.edu 37 11 22770666 22770666 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:22770666G>T uc009yie.2 + 6 780 c.474G>T c.(472-474)AGG>AGT p.R158S GAS2_uc001mqm.2_Missense_Mutation_p.R158S|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.R158S NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 158 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 CTTTTTAAAGGTATGGTGTGG 0.383 21 16 --- --- --- --- PASS LUZP2 338645 broad.mit.edu 37 11 25004678 25004678 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:25004678C>T uc001mqs.2 + 9 838 c.604C>T c.(604-606)CAG>TAG p.Q202* LUZP2_uc009yif.2_Nonsense_Mutation_p.Q116*|LUZP2_uc009yig.2_Nonsense_Mutation_p.Q160* NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 202 Potential. extracellular region ovary(1)|skin(1) 2 GTAGGAGTCACAGATGAAAGC 0.418 67 40 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44081390 44081390 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:44081390A>G uc001mxw.1 + 14 1683 c.1627A>G c.(1627-1629)ATG>GTG p.M543V ACCSL_uc009ykr.2_Missense_Mutation_p.M362V NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 543 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 CCCTCTAGCTATGCGTCGGTT 0.512 218 147 --- --- --- --- PASS CD82 3732 broad.mit.edu 37 11 44639800 44639800 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:44639800G>T uc001myc.2 + 8 775 c.527G>T c.(526-528)TGC>TTC p.C176F CD82_uc001myd.2_Missense_Mutation_p.C151F NM_002231 NP_002222 P27701 CD82_HUMAN CD82 antigen isoform 1 176 Extracellular (Potential). integral to plasma membrane protein binding ovary(1) 1 CCCTGTTCCTGCGAAGTCAAG 0.602 11 25 --- --- --- --- PASS CD82 3732 broad.mit.edu 37 11 44639801 44639801 + Silent SNP C T T rs139816598 byFrequency TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:44639801C>T uc001myc.2 + 8 776 c.528C>T c.(526-528)TGC>TGT p.C176C CD82_uc001myd.2_Silent_p.C151C NM_002231 NP_002222 P27701 CD82_HUMAN CD82 antigen isoform 1 176 Extracellular (Potential). integral to plasma membrane protein binding ovary(1) 1 CCTGTTCCTGCGAAGTCAAGG 0.607 11 25 --- --- --- --- PASS CD82 3732 broad.mit.edu 37 11 44639802 44639802 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:44639802G>T uc001myc.2 + 8 777 c.529G>T c.(529-531)GAA>TAA p.E177* CD82_uc001myd.2_Nonsense_Mutation_p.E152* NM_002231 NP_002222 P27701 CD82_HUMAN CD82 antigen isoform 1 177 Extracellular (Potential). integral to plasma membrane protein binding ovary(1) 1 CTGTTCCTGCGAAGTCAAGGG 0.607 14 25 --- --- --- --- PASS RAPSN 5913 broad.mit.edu 37 11 47463443 47463443 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:47463443C>T uc001nfi.1 - 4 935 c.721G>A c.(721-723)GAC>AAC p.D241N RAPSN_uc001nfj.1_Missense_Mutation_p.D241N|RAPSN_uc009yls.1_Missense_Mutation_p.D241N NM_005055 NP_005046 Q13702 RAPSN_HUMAN 43 kD receptor-associated protein of the synapse 241 synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding ovary(1) 1 AGTGGCCGGTCCCCGTGCTGC 0.672 9 9 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974079 49974079 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:49974079C>G uc010rhz.1 + 1 105 c.105C>G c.(103-105)AAC>AAG p.N35K NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TCTACATCAACGCCATGATAG 0.408 118 60 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55418726 55418726 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:55418726T>A uc001nhs.1 + 1 347 c.347T>A c.(346-348)ATG>AAG p.M116K NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 116 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) CTTACTGTAATGGCCTATGAT 0.423 105 27 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563067 55563067 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:55563067C>A uc010rim.1 + 1 36 c.36C>A c.(34-36)CCC>CCA p.P12P NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GCATGGAGCCCACCTTTGCCC 0.413 62 99 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587917 55587917 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:55587917C>A uc010rin.1 + 1 812 c.812C>A c.(811-813)ACA>AAA p.T271K NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TCCAGGCACACAGTCAAAGTG 0.507 42 82 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606495 55606495 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:55606495G>T uc010rio.1 + 1 268 c.268G>T c.(268-270)GAA>TAA p.E90* NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) CCTGGTTGTAGAAGATAGAAC 0.408 95 214 --- --- --- --- PASS OR1S2 219958 broad.mit.edu 37 11 57971379 57971379 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:57971379G>T uc010rkb.1 - 1 275 c.275C>A c.(274-276)CCC>CAC p.P92H NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 92 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) CAGCATTTTGGGGACTGAGTT 0.418 55 136 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245336 59245336 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:59245336C>T uc001nnz.1 + 1 434 c.434C>T c.(433-435)ACA>ATA p.T145I NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATTGGGCTCACAGTGGCTGCC 0.517 55 106 --- --- --- --- PASS MS4A3 932 broad.mit.edu 37 11 59828660 59828660 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:59828660A>T uc001nom.2 + 2 155 c.27A>T c.(25-27)GCA>GCT p.A9A MS4A3_uc001non.2_Silent_p.A9A|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 9 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) TTGATAATGCAGAGCTGGGGT 0.493 63 72 --- --- --- --- PASS MS4A2 2206 broad.mit.edu 37 11 59857232 59857232 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:59857232G>A uc001nop.2 + 2 226 c.124G>A c.(124-126)GCC>ACC p.A42T MS4A2_uc009ymu.2_Missense_Mutation_p.A42T NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 42 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) ATTGAAGTCGGCCTCATCCCC 0.458 68 59 --- --- --- --- PASS MS4A4A 51338 broad.mit.edu 37 11 60059718 60059718 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:60059718C>A uc001noz.2 + 2 72 c.62C>A c.(61-63)ACA>AAA p.T21K MS4A4A_uc001npa.2_Missense_Mutation_p.T2K|MS4A4A_uc001npb.2_Missense_Mutation_p.T2K|MS4A4A_uc001npc.2_Missense_Mutation_p.T2K NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 21 Cytoplasmic (Potential). integral to membrane receptor activity 0 GCTGCCATGACAACCATGCAA 0.493 59 86 --- --- --- --- PASS BSCL2 26580 broad.mit.edu 37 11 62472874 62472874 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:62472874G>A uc001nuo.1 - 2 535 c.111C>T c.(109-111)ACC>ACT p.T37T BSCL2_uc009yoc.1_Silent_p.T37T|BSCL2_uc001nup.2_Silent_p.T37T|BSCL2_uc001nuq.1_Silent_p.T37T|BSCL2_uc001nur.3_Silent_p.T101T|BSCL2_uc009yod.2_Silent_p.T101T|BSCL2_uc001nut.3_Silent_p.T101T|HNRNPUL2_uc001nuu.1_RNA|GNG3_uc001nuv.2_5'Flank NM_032667 NP_116056 Q96G97 BSCL2_HUMAN seipin isoform 2 37 Helical; (Potential). cell death integral to endoplasmic reticulum membrane 0 AAAGGAGGATGGTGCAGAAGA 0.572 30 61 --- --- --- --- PASS EFEMP2 30008 broad.mit.edu 37 11 65635425 65635425 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:65635425G>T uc001ofy.3 - 10 1271 c.1077C>A c.(1075-1077)GAC>GAA p.D359E EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D359E NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 359 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) TCTGGAACACGTCAGCGGGCA 0.587 55 134 --- --- --- --- PASS EFEMP2 30008 broad.mit.edu 37 11 65635437 65635437 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:65635437G>C uc001ofy.3 - 10 1259 c.1065C>G c.(1063-1065)AGC>AGG p.S355R EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.S355R NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 355 RSV -> AER (in Ref. 2; AAC62108).|S -> R (in Ref. 3; AAF65188). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) CAGCGGGCACGCTCCGCTCCG 0.602 86 81 --- --- --- --- PASS C11orf80 79703 broad.mit.edu 37 11 66568167 66568167 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:66568167G>C uc001ojf.2 + 7 780 c.773G>C c.(772-774)GGG>GCG p.G258A C11orf80_uc001ojg.2_Missense_Mutation_p.G24A|C11orf80_uc001ojh.2_Missense_Mutation_p.G24A|C11orf80_uc001oji.2_Missense_Mutation_p.G24A|C11orf80_uc010rpk.1_Missense_Mutation_p.G92A NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 103 0 GAGATCTTTGGGTAAGTTCTT 0.363 8 27 --- --- --- --- PASS PC 5091 broad.mit.edu 37 11 66618314 66618314 + Silent SNP C A A rs61731787 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:66618314C>A uc001ojn.1 - 16 2353 c.2304G>T c.(2302-2304)CTG>CTT p.L768L PC_uc001ojo.1_Silent_p.L768L|PC_uc001ojp.1_Silent_p.L768L|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 768 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TGTGGATGTGCAGTGGGAGGT 0.662 20 61 --- --- --- --- PASS NDUFV1 4723 broad.mit.edu 37 11 67379393 67379393 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:67379393G>A uc001omj.2 + 8 1259 c.1106G>A c.(1105-1107)CGC>CAC p.R369H NDUFV1_uc010rpv.1_Missense_Mutation_p.R268H|NDUFV1_uc001oml.2_Missense_Mutation_p.R362H|NDUFV1_uc001omk.3_Missense_Mutation_p.R360H|NDUFV1_uc009yrz.1_Silent_p.P228P|NDUFV1_uc010rpw.1_Missense_Mutation_p.R78H NM_007103 NP_009034 P49821 NDUV1_HUMAN NADH dehydrogenase ubiquinone flavoprotein 1 369 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity skin(1) 1 NADH(DB00157) GCCATCGCCCGCCTCATTGAG 0.617 49 104 --- --- --- --- PASS ACY3 91703 broad.mit.edu 37 11 67413302 67413302 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:67413302T>A uc001omq.2 - 4 464 c.293A>T c.(292-294)CAG>CTG p.Q98L NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 98 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) CCCCAGCAGCTGGTTCAGCTC 0.607 78 158 --- --- --- --- PASS NADSYN1 55191 broad.mit.edu 37 11 71209527 71209527 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:71209527C>G uc001oqn.2 + 20 2149 c.2023C>G c.(2023-2025)CTG>GTG p.L675V NADSYN1_uc001oqo.2_Missense_Mutation_p.L415V|NADSYN1_uc001oqp.2_Missense_Mutation_p.L304V NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 675 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCGACCATTTCTGTACAACAC 0.478 34 141 --- --- --- --- PASS RSF1 51773 broad.mit.edu 37 11 77386218 77386218 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:77386218T>C uc001oyn.2 - 14 3545 c.3425A>G c.(3424-3426)GAC>GGC p.D1142G RSF1_uc001oym.2_Missense_Mutation_p.D890G NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1142 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GCTACAAAAGTCAGTGTCACT 0.453 43 49 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92568145 92568145 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:92568145C>A uc001pdj.3 + 14 9998 c.9981C>A c.(9979-9981)GTC>GTA p.V3327V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3327 Cadherin 30.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGCCACTGTCAACATCAACC 0.507 TCGA Ovarian(4;0.039) 29 32 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106810751 106810751 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:106810751A>C uc001pjg.1 - 4 1031 c.641T>G c.(640-642)TTT>TGT p.F214C GUCY1A2_uc010rvo.1_Missense_Mutation_p.F214C|GUCY1A2_uc009yxn.1_Missense_Mutation_p.F214C NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 214 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGTTTTCCAAAAGAAGTTCT 0.463 78 111 --- --- --- --- PASS PPP2R1B 5519 broad.mit.edu 37 11 111637063 111637063 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:111637063C>A uc001plx.1 - 1 107 c.23G>T c.(22-24)GGG>GTG p.G8V PPP2R1B_uc001plw.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwi.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwj.1_5'UTR|PPP2R1B_uc010rwk.1_Missense_Mutation_p.G8V|PPP2R1B_uc010rwl.1_Missense_Mutation_p.G8V NM_002716 NP_002707 P30154 2AAB_HUMAN beta isoform of regulatory subunit A, protein 8 G -> R (in a lung cancer patient). protein binding 0 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TGGGCCGGTCCCGAGCTCTGA 0.507 19 17 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114453646 114453646 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:114453646A>T uc001ppc.2 - 3 375 c.194T>A c.(193-195)CTA>CAA p.L65Q FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 65 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) AGTCTCTGTTAGTGGCTTTAA 0.448 84 136 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118774021 118774021 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:118774021C>A uc001pug.2 - 4 1638 c.673G>T c.(673-675)GGG>TGG p.G225W BCL9L_uc009zal.2_Missense_Mutation_p.G220W NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 225 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) cccccgcccccgcccccAGGG 0.587 5 4 --- --- --- --- PASS PDZD3 79849 broad.mit.edu 37 11 119058019 119058019 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:119058019T>G uc001pwb.2 + 3 1093 c.569T>G c.(568-570)CTG>CGG p.L190R PDZD3_uc001pvy.2_Missense_Mutation_p.L124R|PDZD3_uc001pvz.2_Missense_Mutation_p.L124R|PDZD3_uc010rzd.1_Missense_Mutation_p.L111R|PDZD3_uc001pwa.2_5'UTR Q86UT5 NHRF4_HUMAN RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4; 190 PDZ 1. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1) 1 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) CGGGTGTTGCTGACAGTATTG 0.672 8 10 --- --- --- --- PASS MFRP 83552 broad.mit.edu 37 11 119216232 119216232 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:119216232T>A uc001pwj.2 - 5 699 c.539A>T c.(538-540)CAT>CTT p.H180L MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.H180L NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CTGTATTGCATGGTCTGTGGC 0.582 34 53 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676282 123676282 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:123676282G>T uc010rzz.1 - 1 776 c.776C>A c.(775-777)CCC>CAC p.P259H NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GTTCTGATTGGGTCTCACATA 0.512 13 47 --- --- --- --- PASS OR6M1 390261 broad.mit.edu 37 11 123676283 123676283 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:123676283G>T uc010rzz.1 - 1 775 c.775C>A c.(775-777)CCC>ACC p.P259T NM_001005325 NP_001005325 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TTCTGATTGGGTCTCACATAC 0.512 13 45 --- --- --- --- PASS OR8D4 338662 broad.mit.edu 37 11 123777210 123777210 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:123777210G>T uc010saa.1 + 1 72 c.72G>T c.(70-72)CAG>CAT p.Q24H NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) CAGAGCTTCAGCTGCCCCTCT 0.428 37 88 --- --- --- --- PASS OR4D5 219875 broad.mit.edu 37 11 123810488 123810488 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:123810488G>T uc001pzk.1 + 1 165 c.165G>T c.(163-165)CTG>CTT p.L55L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) ACCCACACCTGCACACAACCA 0.448 76 95 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123887041 123887041 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:123887041T>G uc010sac.1 + 1 760 c.760T>G c.(760-762)TGT>GGT p.C254G NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTTTGTTCCCTGTGTTGTCAT 0.537 23 55 --- --- --- --- PASS OR8B4 283162 broad.mit.edu 37 11 124294301 124294301 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:124294301A>T uc010sak.1 - 1 467 c.467T>A c.(466-468)ATG>AAG p.M156K NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGTGTGGGCCATGGCCCCAGC 0.552 13 19 --- --- --- --- PASS ETS1 2113 broad.mit.edu 37 11 128359270 128359270 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:128359270G>A uc010sbs.1 - 3 634 c.318C>T c.(316-318)TGC>TGT p.C106C ETS1_uc001qej.2_Silent_p.C150C|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.C106C NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 106 PNT. cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) TACCCAGGGCGCAGAGGGCTG 0.493 90 96 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129784610 129784610 + Nonsense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:129784610G>A uc001qfm.2 - 18 3074 c.2842C>T c.(2842-2844)CAA>TAA p.Q948* PRDM10_uc001qfj.2_Nonsense_Mutation_p.Q862*|PRDM10_uc001qfk.2_Nonsense_Mutation_p.Q858*|PRDM10_uc001qfl.2_Nonsense_Mutation_p.Q862*|PRDM10_uc010sbx.1_Nonsense_Mutation_p.Q858*|PRDM10_uc001qfn.2_Nonsense_Mutation_p.Q944*|PRDM10_uc009zcs.1_Nonsense_Mutation_p.Q131* NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 948 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GAGGCCACTTGAACCACTTGC 0.552 6 143 --- --- --- --- PASS IGSF9B 22997 broad.mit.edu 37 11 133792072 133792072 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:133792072G>A uc001qgx.3 - 17 2558 c.2327C>T c.(2326-2328)CCC>CTC p.P776L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 776 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) AGACACTTACGGAGACTCCAG 0.577 8 32 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 248089 248089 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:248089A>T uc001qhw.1 + 1 657 c.651A>T c.(649-651)GCA>GCT p.A217A IQSEC3_uc001qhu.1_Silent_p.A217A|IQSEC3_uc001qht.1_Silent_p.A302A|uc001qhv.1_Intron NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 520 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AGGCCCCCGCAGAGCCCGCGG 0.716 8 19 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2930910 2930910 + Silent SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:2930910A>C uc001qlb.1 + 9 964 c.900A>C c.(898-900)TCA>TCC p.S300S ITFG2_uc010seb.1_Silent_p.S123S|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 300 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGCTGTGGTCAGTGCAGGTGG 0.567 87 112 --- --- --- --- PASS NTF3 4908 broad.mit.edu 37 12 5603648 5603648 + Missense_Mutation SNP A G G rs145358554 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:5603648A>G uc001qnl.3 + 1 351 c.268A>G c.(268-270)ACC>GCC p.T90A NTF3_uc001qnk.3_Missense_Mutation_p.T103A NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 90 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 TGCAATGGACACCGAACTGCT 0.617 38 80 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5939612 5939612 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:5939612G>T uc001qnm.2 - 6 889 c.817C>A c.(817-819)CGC>AGC p.R273S NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 278 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 ATGCGGCTGCGGGTGGCATTA 0.493 17 30 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9000180 9000180 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:9000180A>G uc001quz.3 + 15 1817 c.1719A>G c.(1717-1719)CCA>CCG p.P573P A2ML1_uc001qva.1_Silent_p.P153P|A2ML1_uc010sgm.1_Silent_p.P73P NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 417 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 AGCAGCTTCCAGGAGCAGAAG 0.577 111 139 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13768452 13768452 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:13768452C>T uc001rbt.2 - 6 1654 c.1475G>A c.(1474-1476)GGA>GAA p.G492E NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 492 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATTCCAGGTTCCATTGATTTT 0.373 92 191 --- --- --- --- PASS ERP27 121506 broad.mit.edu 37 12 15073866 15073866 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:15073866C>T uc001rco.2 - 4 471 c.450G>A c.(448-450)GTG>GTA p.V150V NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 150 Thioredoxin. endoplasmic reticulum lumen breast(1) 1 TATTGTTTACCACAGGGTTGT 0.458 73 118 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21008009 21008009 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:21008009T>A uc001rek.2 + 3 258 c.132T>A c.(130-132)GGT>GGA p.G44G SLCO1B3_uc001rel.2_Silent_p.G44G|SLCO1B3_uc010sil.1_Silent_p.G44G|LST-3TM12_uc010sim.1_Silent_p.G44G NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 44 Helical; Name=1; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AAGCACTAGGTGGAATCATTA 0.318 26 41 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21172204 21172204 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:21172204T>C uc010sin.1 + 2 108 c.108T>C c.(106-108)TTT>TTC p.F36F SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Intron NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 36 membrane transporter activity 0 TGATTGTATTTGTAAGTTACT 0.328 24 34 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21200140 21200140 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:21200140A>G uc010sin.1 + 7 983 c.983A>G c.(982-984)AAC>AGC p.N328S SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.N375S NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 328 membrane transporter activity 0 TCTAAGACTAACTTTTTGTTG 0.318 4 17 --- --- --- --- PASS OVCH1 341350 broad.mit.edu 37 12 29631788 29631788 + Nonsense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:29631788G>C uc001rix.1 - 9 1049 c.1049C>G c.(1048-1050)TCA>TGA p.S350* NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 350 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TCCACTGCTTGATCGTAAAGA 0.294 17 37 --- --- --- --- PASS DENND5B 160518 broad.mit.edu 37 12 31542367 31542367 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:31542367G>T uc001rki.1 - 20 3718 c.3532C>A c.(3532-3534)CAG>AAG p.Q1178K DENND5B_uc001rkh.1_Missense_Mutation_p.Q1213K|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1178 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 GATGATTTCTGAATAAGGACA 0.368 11 22 --- --- --- --- PASS YARS2 51067 broad.mit.edu 37 12 32902909 32902909 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:32902909A>G uc001rli.2 - 4 1302 c.1236T>C c.(1234-1236)ACT>ACC p.T412T NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 412 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CTTTGCGGCAAGTATCTAGGA 0.373 27 156 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39695313 39695313 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:39695313C>G uc001rly.2 - 37 5046 c.4900G>C c.(4900-4902)GTT>CTT p.V1634L KIF21A_uc001rlv.2_Missense_Mutation_p.V579L|KIF21A_uc001rlw.2_Missense_Mutation_p.V904L|KIF21A_uc001rlx.2_Missense_Mutation_p.V1621L|KIF21A_uc001rlz.2_Missense_Mutation_p.V1581L|KIF21A_uc010skl.1_Missense_Mutation_p.V1597L|KIF21A_uc001rlt.2_Missense_Mutation_p.V254L|KIF21A_uc001rlu.2_Missense_Mutation_p.V254L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1634 WD 7. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) GTGGAATTAACACATATGGCA 0.373 77 94 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39734805 39734805 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:39734805C>A uc001rly.2 - 15 2159 c.2013G>T c.(2011-2013)CTG>CTT p.L671L KIF21A_uc001rlw.2_5'UTR|KIF21A_uc001rlx.2_Silent_p.L658L|KIF21A_uc001rlz.2_Silent_p.L658L|KIF21A_uc010skl.1_Silent_p.L658L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 671 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TCAGAGTCTGCAGTCTTTTCT 0.368 23 35 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40076501 40076501 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:40076501T>A uc001rmc.2 + 8 942 c.775T>A c.(775-777)TAC>AAC p.Y259N C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 259 ovary(6) 6 ACAGTCAGACTACATTACTGA 0.353 42 87 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966418 41966418 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:41966418G>C uc010skn.1 + 10 1308 c.1240G>C c.(1240-1242)GAC>CAC p.D414H PDZRN4_uc001rmq.3_Missense_Mutation_p.D355H|PDZRN4_uc009zjz.2_Missense_Mutation_p.D353H|PDZRN4_uc001rmr.2_Missense_Mutation_p.D240H NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 613 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGAATACATTGACTCAGACTG 0.468 37 65 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46321729 46321729 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:46321729T>C uc001rox.2 - 11 2042 c.1755A>G c.(1753-1755)ACA>ACG p.T585T SFRS2IP_uc001row.2_Silent_p.T270T|SFRS2IP_uc001roy.1_Silent_p.T659T NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 585 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GGGAACTCTCTGTTATTTTTT 0.358 50 71 --- --- --- --- PASS FAM113B 91523 broad.mit.edu 37 12 47629446 47629446 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:47629446C>T uc001rpn.2 + 4 1331 c.600C>T c.(598-600)AGC>AGT p.S200S FAM113B_uc010slj.1_Silent_p.S80S|FAM113B_uc001rpq.2_Silent_p.S200S NM_138371 NP_612380 Q96HM7 F113B_HUMAN hypothetical protein LOC91523 200 hydrolase activity skin(3)|ovary(2) 5 Renal(347;0.138)|Lung SC(27;0.192) ACTTCCACAGCGCCACCGAGG 0.582 11 21 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48369843 48369843 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:48369843C>A uc001rqu.2 - 50 3681 c.3500G>T c.(3499-3501)GGC>GTC p.G1167V COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.G1098V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1167 Triple-helical region. Missing (in SEDC). axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACCGACGGGGCCAGGAGGACC 0.632 59 88 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48537939 48537939 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:48537939A>T uc001rrc.2 + 20 2161 c.1991A>T c.(1990-1992)CAG>CTG p.Q664L PFKM_uc001rra.1_Missense_Mutation_p.Q349L|PFKM_uc001rrb.1_Missense_Mutation_p.Q735L|PFKM_uc001rrd.2_Missense_Mutation_p.Q349L|PFKM_uc001rre.1_Missense_Mutation_p.Q664L|PFKM_uc001rrg.1_Missense_Mutation_p.Q633L NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 664 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 CACATGCAGCAGGTAGGGAAG 0.517 44 67 --- --- --- --- PASS CCNT1 904 broad.mit.edu 37 12 49110307 49110307 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:49110307C>T uc001rse.1 - 1 475 c.152G>A c.(151-153)CGT>CAT p.R51H CCNT1_uc009zkz.1_5'UTR NM_001240 NP_001231 O60563 CCNT1_HUMAN cyclin T1 51 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding ovary(3)|lung(1)|breast(1)|skin(1) 6 CACGTTAAGACGCTGCCCCAT 0.587 OREG0021767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 99 --- --- --- --- PASS MMP19 4327 broad.mit.edu 37 12 56235003 56235003 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:56235003G>C uc001sib.2 - 3 312 c.191C>G c.(190-192)TCT>TGT p.S64C MMP19_uc001sia.2_5'Flank|MMP19_uc001sid.2_Intron|MMP19_uc010spw.1_Missense_Mutation_p.S64C NM_002429 NP_002420 Q99542 MMP19_HUMAN matrix metalloproteinase 19 isoform rasi-1 64 angiogenesis|cell differentiation|collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1) 1 TGGAAGTTCAGATGCTTCCTG 0.522 53 73 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57966387 57966387 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:57966387G>C uc001sor.1 + 15 1802 c.1594G>C c.(1594-1596)GAG>CAG p.E532Q KIF5A_uc010srr.1_Missense_Mutation_p.E443Q NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 532 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CCTGGAGTCTGAGTTGCAGCG 0.592 39 76 --- --- --- --- PASS LRIG3 121227 broad.mit.edu 37 12 59276650 59276650 + Splice_Site SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:59276650C>A uc001sqr.2 - 12 1726 c.1480_splice c.e12+1 p.D494_splice LRIG3_uc009zqh.2_Splice_Site_p.D434_splice|LRIG3_uc010ssh.1_Splice_Site NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) CTTATACTCACCACACACAAA 0.368 24 41 --- --- --- --- PASS AVPR1A 552 broad.mit.edu 37 12 63544586 63544586 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:63544586G>T uc001sro.1 - 1 2005 c.31C>A c.(31-33)CCC>ACC p.P11T NM_000706 NP_000697 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 11 Extracellular (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity 0 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTGCCCGAGGGCCCCGCGTCG 0.731 21 24 --- --- --- --- PASS FRS2 10818 broad.mit.edu 37 12 69968729 69968729 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:69968729C>T uc001suy.2 + 10 2031 c.1521C>T c.(1519-1521)CCC>CCT p.P507P FRS2_uc001suz.2_Silent_p.P507P|FRS2_uc009zrj.2_Silent_p.P507P|FRS2_uc009zrk.2_Silent_p.P507P NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 507 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTGATCTGCCCATGTGAGCCT 0.388 35 68 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513299 78513299 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:78513299C>A uc001syp.2 + 15 3496 c.3323C>A c.(3322-3324)GCA>GAA p.A1108E NAV3_uc001syo.2_Missense_Mutation_p.A1108E|NAV3_uc010sub.1_Missense_Mutation_p.A608E|NAV3_uc009zsf.2_Missense_Mutation_p.A116E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1108 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAGTCAAATGCAGGGAGAAAA 0.488 HNSCC(70;0.22) 34 64 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78520960 78520960 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:78520960A>G uc001syp.2 + 17 4425 c.4252A>G c.(4252-4254)AGA>GGA p.R1418G NAV3_uc001syo.2_Missense_Mutation_p.R1418G|NAV3_uc010sub.1_Intron|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1418 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCAGCTTGACAGAAATACACT 0.363 HNSCC(70;0.22) 34 43 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78582544 78582544 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:78582544T>A uc001syp.2 + 33 6215 c.6042T>A c.(6040-6042)ACT>ACA p.T2014T NAV3_uc001syo.2_Silent_p.T1992T|NAV3_uc010sub.1_Silent_p.T1471T|NAV3_uc009zsf.2_Silent_p.T823T NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 2014 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACATCATCACTGTGAACCTCA 0.398 HNSCC(70;0.22) 40 60 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81741318 81741318 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:81741318C>A uc001szo.1 - 18 2387 c.2226G>T c.(2224-2226)ATG>ATT p.M742I PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 668 ovary(3)|lung(2)|pancreas(1) 6 ATACCAGTGTCATGACTCCCA 0.418 87 113 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88482973 88482973 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:88482973T>C uc001tar.2 - 31 4209 c.3865A>G c.(3865-3867)ACA>GCA p.T1289A CEP290_uc001taq.2_Missense_Mutation_p.T349A NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 1289 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 TGAATCATTGTTTTGGAGAAC 0.368 20 30 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100453045 100453045 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:100453045T>G uc001tgq.2 - 14 2239 c.2010A>C c.(2008-2010)GAA>GAC p.E670D UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.E320D NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 670 ovary(2) 2 CTTTATAAATTTCATGCATTT 0.343 36 78 --- --- --- --- PASS SLC17A8 246213 broad.mit.edu 37 12 100811884 100811884 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:100811884C>A uc010svi.1 + 11 1688 c.1375C>A c.(1375-1377)CTC>ATC p.L459I SLC17A8_uc009ztx.2_Missense_Mutation_p.L409I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 459 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 AGTGGGAACCCTCTCTGGAAT 0.502 75 127 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101555755 101555755 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:101555755T>A uc001thz.3 - 13 2017 c.1627A>T c.(1627-1629)ACA>TCA p.T543S NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 543 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 TAGTTACCTGTTGATAAACTG 0.308 99 199 --- --- --- --- PASS KIAA1033 23325 broad.mit.edu 37 12 105558084 105558084 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:105558084A>T uc001tld.2 + 31 3440 c.3353A>T c.(3352-3354)CAG>CTG p.Q1118L KIAA1033_uc010swr.1_Missense_Mutation_p.Q1119L|KIAA1033_uc010sws.1_Missense_Mutation_p.Q930L NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 1118 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 GTCTATCTACAGGTAGAGAGG 0.403 30 57 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109577292 109577292 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:109577292G>T uc001tob.2 + 2 201 c.82G>T c.(82-84)GAC>TAC p.D28Y ACACB_uc001toc.2_Missense_Mutation_p.D28Y NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 28 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GAAAATGACGGACTCCAAGCC 0.468 50 81 --- --- --- --- PASS NAA25 80018 broad.mit.edu 37 12 112499079 112499079 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:112499079C>T uc001ttm.2 - 12 1283 c.1263G>A c.(1261-1263)ACG>ACA p.T421T NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.T393T|NAA25_uc009zwa.1_Silent_p.T421T NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 421 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CAAGTAACCTCGTCAGCTGCA 0.468 21 54 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112622317 112622317 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:112622317C>G uc009zwc.2 - 54 9205 c.9187G>C c.(9187-9189)GCC>CCC p.A3063P NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GAGGCGGAGGCGCTGATGCTC 0.662 9 13 --- --- --- --- PASS CIT 11113 broad.mit.edu 37 12 120135581 120135581 + Nonsense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:120135581G>C uc001txi.1 - 45 5692 c.5639C>G c.(5638-5640)TCA>TGA p.S1880* CIT_uc001txh.1_Nonsense_Mutation_p.S1399*|CIT_uc001txj.1_Nonsense_Mutation_p.S1922* NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1880 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) AATCGCTCCTGAGGAAATGGC 0.577 73 115 --- --- --- --- PASS RSRC2 65117 broad.mit.edu 37 12 122995669 122995669 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:122995669T>C uc001ucr.2 - 7 938 c.792A>G c.(790-792)CAA>CAG p.Q264Q RSRC2_uc001uco.2_Silent_p.Q32Q|RSRC2_uc001ucp.2_Silent_p.Q205Q|RSRC2_uc001ucq.2_Silent_p.Q32Q|RSRC2_uc001ucs.2_Silent_p.Q32Q|RSRC2_uc001uct.2_Silent_p.Q216Q|RSRC2_uc001ucu.2_Silent_p.Q264Q NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 264 Potential. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CAGCTATTTCTTGTTGTTTTT 0.249 22 19 --- --- --- --- PASS ZNF664 144348 broad.mit.edu 37 12 124497330 124497330 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:124497330C>A uc001ufz.2 + 6 2469 c.639C>A c.(637-639)AGC>AGA p.S213R ZNF664_uc001uga.2_Missense_Mutation_p.S213R|ZNF664_uc001ugb.2_Missense_Mutation_p.S213R NM_152437 NP_689650 Q8N3J9 ZN664_HUMAN zinc finger protein 664 213 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) AGAGTTCGAGCCTGTGCATCC 0.522 22 137 --- --- --- --- PASS POLE 5426 broad.mit.edu 37 12 133210913 133210913 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr12:133210913C>T uc001uks.1 - 43 5907 c.5863G>A c.(5863-5865)GAT>AAT p.D1955N POLE_uc001ukq.1_Missense_Mutation_p.D165N|POLE_uc001ukr.1_Missense_Mutation_p.D759N|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 1955 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) tcctcctcatcgtcctcattt 0.333 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 31 51 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19748255 19748255 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:19748255G>T uc009zzj.2 - 5 1150 c.1101C>A c.(1099-1101)GAC>GAA p.D367E NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 367 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CCTTGGCCAGGTCTCCCCCAG 0.582 16 44 --- --- --- --- PASS EFHA1 221154 broad.mit.edu 37 13 22084201 22084201 + Nonsense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:22084201G>A uc001uof.2 - 8 725 c.703C>T c.(703-705)CAG>TAG p.Q235* EFHA1_uc010tct.1_Nonsense_Mutation_p.Q25* NM_152726 NP_689939 Q8IYU8 EFHA1_HUMAN EF-hand domain family, member A1 235 EF-hand 2. calcium ion binding 0 all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189) AAACGCATCTGAAGAGTTGTG 0.234 24 52 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26156084 26156084 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:26156084C>G uc001uqk.2 + 23 2277 c.2135C>G c.(2134-2136)GCG>GGG p.A712G ATP8A2_uc010tdi.1_Missense_Mutation_p.A672G|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.A222G NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 672 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CAAGAAACTGCGATTAATATA 0.328 9 38 --- --- --- --- PASS CDX2 1045 broad.mit.edu 37 13 28537332 28537332 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:28537332G>C uc001urv.2 - 3 1036 c.862C>G c.(862-864)CTG>GTG p.L288V NM_001265 NP_001256 Q99626 CDX2_HUMAN caudal type homeobox 2 288 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GAGGCTTGCAGGGAAGACACC 0.647 T ETV6 AML 12 41 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28611325 28611325 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:28611325T>C uc001urw.2 - 10 1388 c.1306A>G c.(1306-1308)AGA>GGA p.R436G FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R436G NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 436 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AACTTACTTCTTATATTCAGC 0.308 Mis|O AML|ALL 17 49 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32911598 32911598 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:32911598G>A uc001uub.1 + 11 3333 c.3106G>A c.(3106-3108)GAA>AAA p.E1036K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1036 BRCA2 1. E -> K (in BC; unknown pathological significance). cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGATATTGAAGAACAATATCC 0.333 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 17 30 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38143436 38143436 + Splice_Site SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:38143436C>T uc001uwo.3 - 21 2549 c.2431_splice c.e21+1 p.D811_splice POSTN_uc010tet.1_Splice_Site_p.D312_splice|POSTN_uc001uwp.3_Splice_Site_p.D754_splice|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Splice_Site_p.D784_splice|POSTN_uc010tev.1_Splice_Site_p.D724_splice|POSTN_uc010tew.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTTTACTAACCTCCCTGAAG 0.373 10 31 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38237720 38237720 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:38237720T>C uc001uws.2 - 6 1756 c.1521A>G c.(1519-1521)ATA>ATG p.I507M TRPC4_uc010abv.2_Missense_Mutation_p.I87M|TRPC4_uc001uwt.2_Missense_Mutation_p.I507M|TRPC4_uc010tey.1_Missense_Mutation_p.I507M|TRPC4_uc010abw.2_Missense_Mutation_p.I334M|TRPC4_uc010abx.2_Missense_Mutation_p.I507M|TRPC4_uc010aby.2_Missense_Mutation_p.I507M NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 507 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTCCCAGAGATATTTGCAGAG 0.408 17 41 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39450500 39450500 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:39450500T>A uc001uwv.2 + 20 8834 c.8525T>A c.(8524-8526)CTT>CAT p.L2842H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2842 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACCTTTGACCTTGACATCCGA 0.438 12 47 --- --- --- --- PASS OLFM4 10562 broad.mit.edu 37 13 53616220 53616220 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:53616220G>T uc001vhl.2 + 3 533 c.533G>T c.(532-534)GGT>GTT p.G178V OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 178 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GAGAGTTTTGGTGGAAGCTCA 0.428 8 26 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207244 58207244 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:58207244C>A uc001vhq.1 + 1 1456 c.564C>A c.(562-564)GAC>GAA p.D188E PCDH17_uc010aec.1_Missense_Mutation_p.D188E NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 188 Extracellular (Potential).|Cadherin 2.|Cell attachment site (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCGCGGCGACGGCACCAAGT 0.642 4 16 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207599 58207599 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:58207599G>T uc001vhq.1 + 1 1811 c.919G>T c.(919-921)GGC>TGC p.G307C PCDH17_uc010aec.1_Missense_Mutation_p.G307C NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 307 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCGTGTGAAGGGCAATCTGGA 0.577 11 27 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986403 61986403 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:61986403C>A uc001vid.3 - 2 2193 c.1829G>T c.(1828-1830)AGA>ATA p.R610I PCDH20_uc010thj.1_Missense_Mutation_p.R610I NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 583 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GTCAACAGCTCTGACAGTGTA 0.453 33 66 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67801278 67801278 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:67801278G>T uc001vik.2 - 2 1987 c.1295C>A c.(1294-1296)ACC>AAC p.T432N PCDH9_uc001vil.2_Missense_Mutation_p.T432N|PCDH9_uc010thl.1_Missense_Mutation_p.T432N|PCDH9_uc001vin.3_Missense_Mutation_p.T432N NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 432 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GAATTCTTTGGTGCCCTCATA 0.403 18 36 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77657256 77657256 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:77657256T>C uc001vkf.2 - 64 10924 c.10833A>G c.(10831-10833)TTA>TTG p.L3611L MYCBP2_uc010aev.2_Silent_p.L3015L|MYCBP2_uc001vke.2_Silent_p.L231L NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3611 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGGTGTGTGGTAAAGGATGAG 0.458 32 70 --- --- --- --- PASS POU4F1 5457 broad.mit.edu 37 13 79175664 79175664 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:79175664G>T uc001vkv.2 - 2 1380 c.1146C>A c.(1144-1146)TCC>TCA p.S382S uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 382 Homeobox. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) CGATCTTCTCGGACGAGGGCC 0.607 26 53 --- --- --- --- PASS HS6ST3 266722 broad.mit.edu 37 13 96743641 96743641 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:96743641T>C uc001vmw.2 + 1 549 c.525T>C c.(523-525)TGT>TGC p.C175C NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 175 Lumenal (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGCAGCCTTGTAGCTGCAAAG 0.632 9 14 --- --- --- --- PASS ZIC2 7546 broad.mit.edu 37 13 100635301 100635301 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:100635301C>T uc001von.2 + 1 983 c.983C>T c.(982-984)ACA>ATA p.T328I NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 328 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CGCGTGCACACAGGCGAGAAA 0.607 32 77 --- --- --- --- PASS IRS2 8660 broad.mit.edu 37 13 110437489 110437489 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:110437489A>T uc001vqv.2 - 1 1426 c.912T>A c.(910-912)AGT>AGA p.S304R NM_003749 NP_003740 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 304 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1) 8 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) ATTGGCTCTTACTGCGCGGCC 0.692 5 8 --- --- --- --- PASS PROZ 8858 broad.mit.edu 37 13 113826358 113826358 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr13:113826358A>T uc001vta.1 + 8 1149 c.1142A>T c.(1141-1143)CAC>CTC p.H381L PROZ_uc010agr.1_Missense_Mutation_p.H403L NM_003891 NP_003882 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma 381 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) GGGCAGGCTCACATGGTCCTT 0.532 9 23 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612101 20612101 + Silent SNP G T T rs111858769 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:20612101G>T uc010tla.1 + 1 207 c.207G>T c.(205-207)CTG>CTT p.L69L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGCCTTACTGGATGCATCCT 0.468 87 234 --- --- --- --- PASS RNASE10 338879 broad.mit.edu 37 14 20978871 20978871 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:20978871C>A uc010tlj.1 + 1 241 c.241C>A c.(241-243)CCA>ACA p.P81T RNASE10_uc001vxp.2_Missense_Mutation_p.P109T NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 81 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) ACCTGGCTGGCCAGAAGATCC 0.527 6 35 --- --- --- --- PASS RNASE10 338879 broad.mit.edu 37 14 20978873 20978873 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:20978873A>G uc010tlj.1 + 1 243 c.243A>G c.(241-243)CCA>CCG p.P81P RNASE10_uc001vxp.2_Silent_p.P109P NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 81 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) CTGGCTGGCCAGAAGATCCCA 0.527 6 35 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623325 21623325 + Missense_Mutation SNP T A A rs141477326 by1000genomes TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:21623325T>A uc010tlp.1 - 1 860 c.860A>T c.(859-861)AAG>ATG p.K287M NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 287 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GGAAAATGCCTTAAACCTGCC 0.507 17 42 --- --- --- --- PASS JPH4 84502 broad.mit.edu 37 14 24040570 24040570 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:24040570G>C uc001wkq.2 - 6 2288 c.1370C>G c.(1369-1371)TCC>TGC p.S457C JPH4_uc010tnr.1_Missense_Mutation_p.S122C|JPH4_uc001wkr.2_Missense_Mutation_p.S457C NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 457 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CAGTTCAGGGGATCCCTCTGA 0.677 9 43 --- --- --- --- PASS NPAS3 64067 broad.mit.edu 37 14 33684439 33684439 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:33684439G>A uc001wru.2 + 3 256 c.192G>A c.(190-192)CGG>CGA p.R64R NPAS3_uc001wrs.2_Silent_p.R34R|NPAS3_uc001wrt.2_Silent_p.R34R|NPAS3_uc001wrv.2_Silent_p.R34R|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 64 Basic motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCTCCCGCCGGGGAAAAGAAA 0.458 63 51 --- --- --- --- PASS KLHDC1 122773 broad.mit.edu 37 14 50177095 50177095 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:50177095G>C uc001www.2 + 4 428 c.400G>C c.(400-402)GAC>CAC p.D134H SDCCAG1_uc010anj.1_Intron|KLHDC1_uc010tqg.1_Missense_Mutation_p.D89H|KLHDC1_uc010tqh.1_Missense_Mutation_p.D77H NM_172193 NP_751943 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 134 Kelch 2. cytoplasm pancreas(1) 1 all_epithelial(31;0.00244)|Breast(41;0.00964) GGTATATAAAGACAGGTAATG 0.363 50 47 --- --- --- --- PASS GPR137C 283554 broad.mit.edu 37 14 53066842 53066842 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:53066842A>G uc001wzu.3 + 3 500 c.500A>G c.(499-501)CAT>CGT p.H167R GPR137C_uc001wzt.3_Missense_Mutation_p.H167R NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 167 Cytoplasmic (Potential). integral to membrane 0 Breast(41;0.0716) ATTCTACTGCATTTGGGCTTT 0.338 79 74 --- --- --- --- PASS C14orf105 55195 broad.mit.edu 37 14 57948311 57948311 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:57948311A>G uc001xcy.2 - 4 604 c.461T>C c.(460-462)ATG>ACG p.M154T C14orf105_uc010trl.1_Missense_Mutation_p.M153T|C14orf105_uc010trm.1_Missense_Mutation_p.M65T|C14orf105_uc010trn.1_Missense_Mutation_p.M65T|C14orf105_uc001xcz.2_Missense_Mutation_p.M153T|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.M75T NM_018168 NP_060638 Q9NVL8 CN105_HUMAN hypothetical protein LOC55195 154 0 CAGCACTTGCATCTTATGCAA 0.368 22 82 --- --- --- --- PASS SYT16 83851 broad.mit.edu 37 14 62536405 62536405 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:62536405C>G uc001xfu.1 + 2 805 c.608C>G c.(607-609)TCC>TGC p.S203C SYT16_uc010tsd.1_Missense_Mutation_p.S203C NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 203 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) ATTTCCGTGTCCCGGTCCCAG 0.478 65 103 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64568746 64568746 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:64568746G>T uc001xgm.2 + 64 12708 c.12478G>T c.(12478-12480)GGA>TGA p.G4160* SYNE2_uc001xgl.2_Nonsense_Mutation_p.G4160*|SYNE2_uc010apy.2_Nonsense_Mutation_p.G545*|SYNE2_uc010apz.1_Nonsense_Mutation_p.G52* NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4160 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCATCCTCTGGAACAATTGT 0.517 10 47 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64676782 64676782 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:64676782G>T uc001xgm.2 + 103 18893 c.18663G>T c.(18661-18663)GAG>GAT p.E6221D SYNE2_uc001xgl.2_Missense_Mutation_p.E6221D|SYNE2_uc010apy.2_Missense_Mutation_p.E2606D|SYNE2_uc001xgn.2_Missense_Mutation_p.E1183D|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.E191D|SYNE2_uc001xgq.2_Missense_Mutation_p.E586D|SYNE2_uc001xgr.2_Missense_Mutation_p.E4D NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6221 Spectrin 7.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGGTCCACGAGGGCAACCAGC 0.637 26 36 --- --- --- --- PASS C14orf169 79697 broad.mit.edu 37 14 73958889 73958889 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:73958889G>T uc001xok.1 + 3 1247 c.1168G>T c.(1168-1170)GTG>TTG p.V390L HEATR4_uc010tua.1_Intron NM_024644 NP_078920 Q9H6W3 NO66_HUMAN chromosome 14 open reading frame 169 390 JmjC. negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215) GCTGCAGACCGTGCTGGAACC 0.577 54 70 --- --- --- --- PASS ISCA2 122961 broad.mit.edu 37 14 74960508 74960508 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:74960508G>C uc001xpz.2 + 1 59 c.31G>C c.(31-33)GCC>CCC p.A11P NPC2_uc001xpy.2_5'Flank|NPC2_uc010tus.1_5'Flank NM_194279 NP_919255 Q86U28 ISCA2_HUMAN iron-sulfur cluster assembly 2 precursor 11 iron-sulfur cluster assembly mitochondrion iron-sulfur cluster binding|metal ion binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00146) GTCCCTAACGGCCGCGACGCA 0.652 10 3 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75052587 75052587 + Missense_Mutation SNP G A A rs149952751 byFrequency TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:75052587G>A uc001xqa.2 - 3 1187 c.800C>T c.(799-801)TCG>TTG p.S267L NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 267 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGCGGGCGGCGACTGTGGTGC 0.662 13 71 --- --- --- --- PASS NRXN3 9369 broad.mit.edu 37 14 79432644 79432644 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:79432644C>T uc001xun.2 + 9 2044 c.1553C>T c.(1552-1554)ACC>ATC p.T518I NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.T643I NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 891 Extracellular (Potential).|Laminin G-like 5. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CAGGCTTACACCTCCATGCAC 0.502 51 52 --- --- --- --- PASS SERPINA6 866 broad.mit.edu 37 14 94772415 94772415 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:94772415G>T uc001ycv.2 - 4 1129 c.1025C>A c.(1024-1026)TCA>TAA p.S342* SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 342 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TACCTTTGATGACTTCAGCTG 0.458 16 71 --- --- --- --- PASS SERPINA11 256394 broad.mit.edu 37 14 94914504 94914504 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:94914504G>C uc001ydd.1 - 2 668 c.608C>G c.(607-609)ACG>AGG p.T203R NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 203 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) AACCATGAACGTGTCCTGGCT 0.468 38 114 --- --- --- --- PASS C14orf49 161176 broad.mit.edu 37 14 95905372 95905372 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:95905372G>A uc001yei.3 - 13 2389 c.2374C>T c.(2374-2376)CGC>TGC p.R792C C14orf49_uc010avi.2_Missense_Mutation_p.R792C NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 792 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) AGACTCACGCGTCGACGATGC 0.567 55 155 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105419199 105419199 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:105419199C>A uc010axc.1 - 7 2709 c.2589G>T c.(2587-2589)GTG>GTT p.V863V AHNAK2_uc001ypx.2_Silent_p.V763V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 863 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGTCGGCCTCCACCTTCGGCG 0.612 170 171 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106641769 106641769 + RNA SNP T G G rs139305030 by1000genomes TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:106641769T>G uc010tyt.1 - 1021 c.24232A>C Parts of antibodies, mostly variable regions. 0 CCATAGCTGGTAAAGGTGTAA 0.552 70 162 --- --- --- --- PASS NDN 4692 broad.mit.edu 37 15 23932317 23932317 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:23932317C>A uc001ywk.2 - 1 134 c.48G>T c.(46-48)GAG>GAT p.E16D NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 16 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGTTGGGGGCCTCGGCTGCAA 0.657 Prader-Willi_syndrome 33 31 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24922999 24922999 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:24922999C>A uc001ywo.2 + 1 2459 c.1985C>A c.(1984-1986)CCC>CAC p.P662H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 662 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) GCTTCTCTCCCCAGTGCCTGT 0.507 87 118 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27193257 27193257 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:27193257C>A uc001zbd.1 + 12 1605 c.1266C>A c.(1264-1266)ATC>ATA p.I422I GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 422 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACAACAGTATCAGCAAAATTG 0.438 9 28 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28211898 28211898 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:28211898G>A uc001zbh.3 - 15 1684 c.1574C>T c.(1573-1575)CCG>CTG p.P525L OCA2_uc010ayv.2_Missense_Mutation_p.P501L NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 525 Helical; (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TCTGAGGAGCGGAAAGCAGAC 0.463 Oculocutaneous_Albinism 12 33 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28436333 28436333 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:28436333C>A uc001zbj.2 - 54 8615 c.8509G>T c.(8509-8511)GTA>TTA p.V2837L HERC2_uc001zbk.1_Missense_Mutation_p.V372L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 2837 DOC. 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) GCAGGATCTACGATCATTTTT 0.368 37 55 --- --- --- --- PASS OTUD7A 161725 broad.mit.edu 37 15 31776442 31776442 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:31776442C>A uc001zfq.2 - 11 1929 c.1836G>T c.(1834-1836)TGG>TGT p.W612C OTUD7A_uc001zfr.2_Missense_Mutation_p.W619C NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 612 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TGCTGTACTTCCAGGCGTCGC 0.697 11 14 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33988492 33988492 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:33988492G>T uc001zhi.2 + 39 6004 c.5934G>T c.(5932-5934)CTG>CTT p.L1978L RYR3_uc010bar.2_Silent_p.L1978L NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1978 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATTCAGAGCTGGTCCGAATGA 0.557 40 50 --- --- --- --- PASS LRRC57 255252 broad.mit.edu 37 15 42837280 42837280 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:42837280C>G uc001zqd.1 - 4 1041 c.673G>C c.(673-675)GAT>CAT p.D225H LRRC57_uc001zqc.2_Missense_Mutation_p.D225H NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 225 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) CATACCTTATCATAGCCTTCC 0.413 23 58 --- --- --- --- PASS LRRC57 255252 broad.mit.edu 37 15 42837400 42837400 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:42837400C>T uc001zqd.1 - 4 921 c.553G>A c.(553-555)GAG>AAG p.E185K LRRC57_uc001zqc.2_Missense_Mutation_p.E185K NM_153260 NP_694992 Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 185 LRR 7. 0 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) AGACAATTCTCTTCCAGGCGA 0.403 40 58 --- --- --- --- PASS CKMT1A 548596 broad.mit.edu 37 15 43990941 43990941 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:43990941T>C uc001zsn.2 + 9 1506 c.1114T>C c.(1114-1116)TTG>CTG p.L372L CKMT1A_uc010uea.1_Silent_p.L403L|CKMT1A_uc001zso.3_Silent_p.L372L NM_001015001 NP_001015001 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1A precursor 372 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) TATTTCTAATTTGGACCGACT 0.512 68 97 --- --- --- --- PASS SLC28A2 9153 broad.mit.edu 37 15 45564584 45564584 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:45564584T>A uc001zva.2 + 16 1805 c.1740T>A c.(1738-1740)TGT>TGA p.C580* NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 580 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TCAGTGCCTGTATGGCAGGTA 0.512 38 77 --- --- --- --- PASS MYEF2 50804 broad.mit.edu 37 15 48450377 48450377 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:48450377T>C uc001zwi.3 - 8 1040 c.916A>G c.(916-918)AAA>GAA p.K306E MYEF2_uc001zwj.3_Missense_Mutation_p.K306E|MYEF2_uc001zwl.2_Missense_Mutation_p.K146E NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 306 RRM 2. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CTCACCATTTTCACATGCATA 0.343 23 55 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48807697 48807697 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:48807697T>C uc001zwx.1 - 12 1683 c.1355A>G c.(1354-1356)TAC>TGC p.Y452C NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 452 EGF-like 6. 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) CAACTGGCAGTAATCAGTAAC 0.443 17 103 --- --- --- --- PASS ZNF280D 54816 broad.mit.edu 37 15 56968994 56968994 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:56968994T>C uc002adu.2 - 13 1501 c.1284A>G c.(1282-1284)TCA>TCG p.S428S ZNF280D_uc002adv.2_Silent_p.S415S|ZNF280D_uc010bfq.2_Silent_p.S428S|ZNF280D_uc002adw.1_Silent_p.S456S|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA NM_017661 NP_060131 Q6N043 Z280D_HUMAN suppressor of hairy wing homolog 4 isoform 1 428 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CAGAAAATGATGATGATCTAT 0.294 41 63 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 64027022 64027022 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:64027022T>C uc002amp.2 - 13 2695 c.2547A>G c.(2545-2547)GGA>GGG p.G849G HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 849 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GCATGGTTGCTCCCACTGATA 0.373 28 31 --- --- --- --- PASS PDCD7 10081 broad.mit.edu 37 15 65425357 65425357 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:65425357C>G uc002aol.2 - 1 818 c.763G>C c.(763-765)GAA>CAA p.E255Q NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN programmed cell death 7 255 Arg/Glu-rich.|Potential. apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex 0 GCCTCGCGTTCCCGGGCCCTC 0.716 11 17 --- --- --- --- PASS IQCH 64799 broad.mit.edu 37 15 67687727 67687727 + Missense_Mutation SNP C A A rs148305719 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:67687727C>A uc002aqo.1 + 13 1778 c.1731C>A c.(1729-1731)AGC>AGA p.S577R IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 577 skin(3)|ovary(1) 4 Colorectal(3;0.0856) ACATCGTCAGCGGGCTCCTCC 0.473 86 140 --- --- --- --- PASS PIAS1 8554 broad.mit.edu 37 15 68468068 68468068 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:68468068A>T uc002aqz.2 + 10 1359 c.1263A>T c.(1261-1263)GAA>GAT p.E421D PIAS1_uc002ara.2_Missense_Mutation_p.E29D NM_016166 NP_057250 O75925 PIAS1_HUMAN protein inhibitor of activated STAT, 1 421 androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1) 2 CAAAAAAGGAAGTACAGGAAG 0.408 11 27 --- --- --- --- PASS SPESP1 246777 broad.mit.edu 37 15 69238585 69238585 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:69238585C>T uc002arn.1 + 2 840 c.712C>T c.(712-714)CAA>TAA p.Q238* NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 238 multicellular organismal development acrosomal vesicle 0 TTCACAAGTGCAACAGGCACT 0.398 23 58 --- --- --- --- PASS AGPHD1 123688 broad.mit.edu 37 15 78805758 78805758 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:78805758G>T uc010unc.1 + 2 441 c.328G>T c.(328-330)GTG>TTG p.V110L AGPHD1_uc002bdt.2_Missense_Mutation_p.V110L|AGPHD1_uc010ble.2_Missense_Mutation_p.V110L NM_001013619 NP_001013641 A2RU49 AGPD1_HUMAN aminoglycoside phosphotransferase domain 110 cytoplasm kinase activity 0 AGCTTCTCTCGTGTCTGTAGG 0.448 48 57 --- --- --- --- PASS C15orf37 283687 broad.mit.edu 37 15 80215270 80215270 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:80215270C>T uc002bfb.2 + 1 158 c.155C>T c.(154-156)CCA>CTA p.P52L ST20_uc002bfa.3_Intron NM_175898 NP_787094 RecName: Full=Putative uncharacterized protein C15orf37; 0 CCAGAGGGTCCACAATCCAGA 0.597 21 43 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83358139 83358139 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:83358139C>G uc010uoh.1 - 2 357 c.180G>C c.(178-180)AGG>AGC p.R60S AP3B2_uc010uoi.1_Missense_Mutation_p.R60S|AP3B2_uc010uoj.1_Missense_Mutation_p.R60S|AP3B2_uc010uok.1_Missense_Mutation_p.R60S NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 60 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) CCGCCACAATCCTCTTCATGG 0.582 16 36 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84611828 84611828 + Nonsense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:84611828G>A uc002bjz.3 + 19 2708 c.2484G>A c.(2482-2484)TGG>TGA p.W828* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.W828*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.W828* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 828 TSP type-1 7. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGGAGACTGGTCGAAGGTAA 0.438 21 33 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89400078 89400078 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:89400078C>T uc010upo.1 + 12 4636 c.4262C>T c.(4261-4263)ACT>ATT p.T1421I ACAN_uc010upp.1_Missense_Mutation_p.T1421I|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1421 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTTCTAGAGACTACTGCCCCT 0.537 110 187 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90349349 90349349 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:90349349C>A uc002bop.3 - 2 758 c.466G>T c.(466-468)GTG>TTG p.V156L NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 156 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GTGGGCTCCACCAGCTCAGTC 0.617 34 52 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98513248 98513248 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:98513248A>G uc010bom.2 + 6 1177 c.1018A>G c.(1018-1020)ACA>GCA p.T340A ARRDC4_uc002bui.3_Missense_Mutation_p.T253A NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 340 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) GAGCTGGTTGACACTGACCCT 0.428 11 60 --- --- --- --- PASS LASS3 204219 broad.mit.edu 37 15 101024834 101024834 + Nonsense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:101024834C>A uc002bvz.2 - 6 830 c.328G>T c.(328-330)GAG>TAG p.E110* LASS3_uc002bwa.2_Nonsense_Mutation_p.E121*|LASS3_uc002bwb.2_Nonsense_Mutation_p.E110* NM_178842 NP_849164 Q8IU89 CERS3_HUMAN LAG1 longevity assurance homolog 3 110 Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) ACCTGGCGCTCCGTCAAGTTA 0.483 33 38 --- --- --- --- PASS SOLH 6650 broad.mit.edu 37 16 601631 601631 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:601631G>A uc002chi.2 + 9 2675 c.2312G>A c.(2311-2313)GGT>GAT p.G771D SOLH_uc002chj.2_5'Flank NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 771 Calpain catalytic. proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) AGCAGTGAGGGTGTCTTCTGG 0.682 10 42 --- --- --- --- PASS IFT140 9742 broad.mit.edu 37 16 1561113 1561113 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:1561113G>C uc002cmb.2 - 31 4583 c.4221C>G c.(4219-4221)CCC>CCG p.P1407P IFT140_uc002clz.2_Silent_p.P1020P NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1407 TPR 9. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) TGTTGGCCAAGGGAAGCCGCC 0.662 5 27 --- --- --- --- PASS SYNGR3 9143 broad.mit.edu 37 16 2042734 2042734 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:2042734G>T uc002cod.2 + 3 571 c.435G>T c.(433-435)GCG>GCT p.A145A NM_004209 NP_004200 O43761 SNG3_HUMAN synaptogyrin 3 145 MARVEL. positive regulation of transporter activity cell junction|integral to plasma membrane|synaptic vesicle 0 CGGGGGACGCGGCGCGGGCCG 0.721 11 9 --- --- --- --- PASS MEFV 4210 broad.mit.edu 37 16 3304503 3304503 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:3304503C>A uc002cun.1 - 2 605 c.565G>T c.(565-567)GGC>TGC p.G189C NM_000243 NP_000234 O15553 MEFV_HUMAN Mediterranean fever protein 189 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|lung(1) 6 Colchicine(DB01394) CTGCAGGGGCCGGGGCTTCTC 0.776 4 6 --- --- --- --- PASS ZNF434 54925 broad.mit.edu 37 16 3434809 3434809 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:3434809C>G uc002cuz.2 - 5 1050 c.248G>C c.(247-249)TGG>TCG p.W83S ZNF434_uc002cux.3_Missense_Mutation_p.W294S|ZNF434_uc010uwx.1_Missense_Mutation_p.W6S|ZNF434_uc002cuy.3_Missense_Mutation_p.W6S|ZNF434_uc010uwy.1_Missense_Mutation_p.W6S|ZNF434_uc010uwz.1_Missense_Mutation_p.W294S|ZNF434_uc010uxa.1_Missense_Mutation_p.W83S NM_017810 NP_060280 Q9NX65 ZN434_HUMAN zinc finger protein 434 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ACCCTGCTCCCAGAGTCCTTC 0.522 108 109 --- --- --- --- PASS TFAP4 7023 broad.mit.edu 37 16 4312391 4312391 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:4312391G>T uc010uxg.1 - 3 542 c.288C>A c.(286-288)ATC>ATA p.I96I NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 96 Helix-loop-helix motif. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CCAGGGAGAAGATGTACTCGG 0.592 30 105 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19483417 19483417 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:19483417T>A uc002dgc.3 + 11 2539 c.1790T>A c.(1789-1791)CTG>CAG p.L597Q TMC5_uc010vaq.1_Intron|TMC5_uc002dgb.3_Missense_Mutation_p.L597Q|TMC5_uc010var.1_Missense_Mutation_p.L597Q|TMC5_uc002dgd.1_Missense_Mutation_p.L351Q|TMC5_uc002dge.3_Missense_Mutation_p.L351Q|TMC5_uc002dgf.3_Missense_Mutation_p.L280Q|TMC5_uc002dgg.3_Missense_Mutation_p.L238Q NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 597 Cytoplasmic (Potential). integral to membrane skin(1) 1 TAGGAGAACCTGTCAGAGCTC 0.328 72 74 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20429497 20429497 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:20429497G>T uc002dhe.2 + 3 468 c.321G>T c.(319-321)GGG>GGT p.G107G ACSM5_uc002dhd.1_Silent_p.G107G NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 107 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 ATGTGCTGGGGGGTGCATGCG 0.607 14 38 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20552086 20552086 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:20552086C>A uc002dhj.3 - 14 1729 c.1519G>T c.(1519-1521)GCA>TCA p.A507S ACSM2B_uc002dhk.3_Missense_Mutation_p.A507S NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 507 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 ATCACAAATGCCTTCACCACC 0.468 60 70 --- --- --- --- PASS GGA2 23062 broad.mit.edu 37 16 23497395 23497395 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:23497395C>G uc002dlq.2 - 8 815 c.739G>C c.(739-741)GAG>CAG p.E247Q GGA2_uc010bxo.1_RNA NM_015044 NP_055859 Q9UJY4 GGA2_HUMAN ADP-ribosylation factor binding protein 2 247 GAT. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.0386) CTCAGCATCTCCTGCAGCACC 0.527 29 106 --- --- --- --- PASS CACNG3 10368 broad.mit.edu 37 16 24373168 24373168 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:24373168G>C uc002dmf.2 + 4 2132 c.932G>C c.(931-933)CGC>CCC p.R311P NM_006539 NP_006530 O60359 CCG3_HUMAN voltage-dependent calcium channel gamma-3 311 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity 0 GBM - Glioblastoma multiforme(48;0.0809) GCCAACAGGCGCACCACGCCC 0.562 27 32 --- --- --- --- PASS NFATC2IP 84901 broad.mit.edu 37 16 28970122 28970122 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:28970122A>G uc002dru.2 + 6 946 c.931A>G c.(931-933)ACA>GCA p.T311A uc010vct.1_Intron|NFATC2IP_uc002drt.2_Missense_Mutation_p.T32A|NFATC2IP_uc002drv.2_Missense_Mutation_p.T30A|NFATC2IP_uc010vdh.1_Missense_Mutation_p.T19A NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 311 cytoplasm|nucleus ovary(1) 1 TTTTGGAGAGACAGAGCTATC 0.582 52 52 --- --- --- --- PASS ZNF747 65988 broad.mit.edu 37 16 30545881 30545881 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:30545881G>A uc002dyn.2 - 1 314 c.120C>T c.(118-120)GCC>GCT p.A40A ZNF768_uc010vex.1_5'UTR|ZNF747_uc002dyo.1_Silent_p.A40A|ZNF747_uc010vey.1_Silent_p.A40A|uc002dyp.1_5'Flank NM_023931 NP_076420 Q9BV97 ZN747_HUMAN zinc finger protein 747 40 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding 0 CGGCCACGTCGGCGAAGCTCA 0.731 6 12 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30976331 30976331 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:30976331A>T uc002ead.1 + 7 1954 c.1268A>T c.(1267-1269)CAG>CTG p.Q423L NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 423 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCCACCGACCAGGACTACCGG 0.657 42 47 --- --- --- --- PASS ITGAM 3684 broad.mit.edu 37 16 31335990 31335990 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:31335990G>C uc002ebq.2 + 18 2274 c.2176G>C c.(2176-2178)GTG>CTG p.V726L ITGAM_uc002ebr.2_Missense_Mutation_p.V727L|ITGAM_uc010can.2_Missense_Mutation_p.V132L|ITGAM_uc002ebs.1_Missense_Mutation_p.V132L|ITGAM_uc010vfj.1_5'Flank NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 726 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 CGAGGACCCAGTGAGCCCCAT 0.597 6 24 --- --- --- --- PASS ABCC12 94160 broad.mit.edu 37 16 48149463 48149463 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:48149463A>G uc002efc.1 - 13 2198 c.1852T>C c.(1852-1854)TAC>CAC p.Y618H ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 618 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) CGGTCGGAGTAGACAGCGCGG 0.622 18 31 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53473056 53473056 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:53473056G>C uc002ehi.3 + 2 487 c.369G>C c.(367-369)CAG>CAC p.Q123H RBL2_uc010vgv.1_Missense_Mutation_p.Q49H NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 123 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GTTCAGAGCAGAGGTAACTAT 0.353 12 33 --- --- --- --- PASS WWP2 11060 broad.mit.edu 37 16 69973306 69973306 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:69973306A>G uc002exu.1 + 24 2592 c.2503A>G c.(2503-2505)AGC>GGC p.S835G WWP2_uc002exv.1_Missense_Mutation_p.S835G|WWP2_uc010vlm.1_Missense_Mutation_p.S719G|WWP2_uc010vln.1_Missense_Mutation_p.S453G|WWP2_uc002exw.1_Missense_Mutation_p.S396G NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 835 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 GCTGCCCAGAAGCCACACCTG 0.567 24 41 --- --- --- --- PASS CNTNAP4 85445 broad.mit.edu 37 16 76573654 76573654 + Nonsense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:76573654G>T uc002feu.1 + 22 3644 c.3259G>T c.(3259-3261)GAG>TAG p.E1087* CNTNAP4_uc002fev.1_Nonsense_Mutation_p.E951*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.E1014*|CNTNAP4_uc002fex.1_Nonsense_Mutation_p.E1090* NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 1087 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TAAATATCAAGAGCCTGATGT 0.343 19 46 --- --- --- --- PASS MON1B 22879 broad.mit.edu 37 16 77228906 77228906 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:77228906G>T uc002fez.2 + 4 1480 c.1150G>T c.(1150-1152)GGG>TGG p.G384W MON1B_uc010vnf.1_Missense_Mutation_p.G275W|MON1B_uc010vng.1_Missense_Mutation_p.G238W|MON1B_uc002ffa.2_Missense_Mutation_p.G264W NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN MON1 homolog B 384 protein binding 0 GCGTGCCCTTGGGGAGGCTGC 0.647 17 21 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270496 84270496 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:84270496C>T uc010voc.1 - 2 717 c.596G>A c.(595-597)CGC>CAC p.R199H KCNG4_uc002fhu.1_Missense_Mutation_p.R199H NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 199 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 CAGGCCCCAGCGCGAGGAGTG 0.677 11 30 --- --- --- --- PASS JPH3 57338 broad.mit.edu 37 16 87636784 87636784 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr16:87636784A>T uc002fkd.2 + 1 286 c.32A>T c.(31-33)GAC>GTC p.D11V JPH3_uc010vou.1_Intron NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 11 Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) AATTTTGACGACGGAGGGTCC 0.617 29 60 --- --- --- --- PASS OR3A1 4994 broad.mit.edu 37 17 3195614 3195614 + Missense_Mutation SNP A G G rs149271851 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:3195614A>G uc002fvh.1 - 1 263 c.263T>C c.(262-264)CTC>CCC p.L88P NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 GCGGGACAGGAGACGACTCAA 0.562 34 21 --- --- --- --- PASS ZNF232 7775 broad.mit.edu 37 17 5009781 5009781 + Nonsense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:5009781C>A uc002gas.2 - 5 1346 c.592G>T c.(592-594)GAG>TAG p.E198* ZNF232_uc002gar.1_Nonsense_Mutation_p.E216*|ZNF232_uc002gat.2_Nonsense_Mutation_p.E225* NM_014519 NP_055334 Q9UNY5 ZN232_HUMAN zinc finger protein 232 198 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 TCCTTGGGCTCTGGGCCATCT 0.388 45 26 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5072240 5072240 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:5072240T>G uc002gau.1 + 35 5637 c.3407T>G c.(3406-3408)CTG>CGG p.L1136R USP6_uc002gav.1_Missense_Mutation_p.L1136R|USP6_uc010ckz.1_Missense_Mutation_p.L819R NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 1136 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CCCAGGATTCTGGCAAGAGAG 0.542 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 89 49 --- --- --- --- PASS YBX2 51087 broad.mit.edu 37 17 7193680 7193680 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:7193680G>A uc002gfq.2 - 5 691 c.634C>T c.(634-636)CGG>TGG p.R212W NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 212 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 TCTTCAGCCCGCTCCCCTTTA 0.677 62 37 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:7578177C>T uc002gim.2 - 6 866 c.672G>A c.(670-672)GAG>GAA p.E224E TP53_uc002gig.1_Silent_p.E224E|TP53_uc002gih.2_Silent_p.E224E|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Silent_p.E92E|TP53_uc010cng.1_Silent_p.E92E|TP53_uc002gii.1_Silent_p.E92E|TP53_uc010cnh.1_Silent_p.E224E|TP53_uc010cni.1_Silent_p.E224E|TP53_uc002gij.2_Silent_p.E224E|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Silent_p.E131E|TP53_uc002gio.2_Silent_p.E92E|TP53_uc010vug.1_Silent_p.E185E NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 224 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAACCAGACCTCAGGCGGCT 0.522 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 19 7 --- --- --- --- PASS CHD3 1107 broad.mit.edu 37 17 7798755 7798755 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:7798755A>T uc002gje.2 + 10 1752 c.1602A>T c.(1600-1602)CCA>CCT p.P534P CHD3_uc002gjd.2_Silent_p.P593P|CHD3_uc002gjf.2_Silent_p.P534P|CHD3_uc002gjg.1_Silent_p.P362P NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 534 Chromo 1. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) ATGGAAATCCAGATGTCCCAC 0.592 70 38 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11666833 11666833 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:11666833A>G uc002gne.2 + 36 7140 c.7072A>G c.(7072-7074)ACG>GCG p.T2358A DNAH9_uc010coo.2_Missense_Mutation_p.T1652A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2358 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCCTGACCACGGAGGACAT 0.502 79 37 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12626289 12626289 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:12626289C>G uc002gnn.2 + 5 678 c.379C>G c.(379-381)CTT>GTT p.L127V MYOCD_uc002gno.2_Missense_Mutation_p.L127V|MYOCD_uc002gnp.1_Missense_Mutation_p.L31V NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 127 RPEL 3. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AAAAAACATTCTTCCTGTGGA 0.483 85 60 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26110057 26110057 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:26110057C>A uc002gzu.2 - 6 807 c.543G>T c.(541-543)CTG>CTT p.L181L NOS2_uc010crh.1_Silent_p.L181L|NOS2_uc010wab.1_Silent_p.L181L NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 181 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CATCTCCCGTCAGTTGGTAGG 0.547 44 90 --- --- --- --- PASS SLC46A1 113235 broad.mit.edu 37 17 26732154 26732154 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:26732154G>T uc002hbf.1 - 2 657 c.561C>A c.(559-561)AGC>AGA p.S187R SLC46A1_uc002hbg.1_Missense_Mutation_p.S187R|SLC46A1_uc010wak.1_Missense_Mutation_p.S187R NM_080669 NP_542400 Q96NT5 PCFT_HUMAN proton-coupled folate transporter 187 Helical; (Potential). cellular iron ion homeostasis|folic acid metabolic process apical plasma membrane|cytoplasm|integral to membrane folic acid binding|folic acid transporter activity|heme transporter activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Folic Acid(DB00158) CCACCCCGATGCTGGCTTCCA 0.662 10 29 --- --- --- --- PASS SUPT6H 6830 broad.mit.edu 37 17 27010298 27010298 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:27010298G>A uc002hby.2 + 16 1981 c.1891G>A c.(1891-1893)GCC>ACC p.A631T SUPT6H_uc010crt.2_Missense_Mutation_p.A631T NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 631 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) TGTGGATGAGGCCCACTATGC 0.507 48 59 --- --- --- --- PASS C17orf63 55731 broad.mit.edu 37 17 27086441 27086441 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:27086441G>A uc002hct.1 - 3 803 c.536C>T c.(535-537)CCG>CTG p.P179L C17orf63_uc010wax.1_Missense_Mutation_p.P179L|C17orf63_uc010way.1_Missense_Mutation_p.P179L|C17orf63_uc002hcw.2_Missense_Mutation_p.P51L NM_018182 NP_060652 Q8WU58 CQ063_HUMAN hypothetical protein LOC55731 179 Gln-rich. ovary(1) 1 all_epithelial(6;5.06e-20)|Lung NSC(42;0.01) Epithelial(11;3.38e-06)|all cancers(11;2.46e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.104) CTGGGGTGGCGGGATACCCTG 0.711 9 16 --- --- --- --- PASS RHOT1 55288 broad.mit.edu 37 17 30520215 30520215 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:30520215A>G uc002hgz.2 + 10 939 c.700A>G c.(700-702)AGA>GGA p.R234G RHOT1_uc002hgw.2_Missense_Mutation_p.R234G|RHOT1_uc002hgy.2_Missense_Mutation_p.R234G|RHOT1_uc002hha.2_Missense_Mutation_p.R107G|RHOT1_uc010csv.2_RNA|RHOT1_uc002hgx.2_Missense_Mutation_p.R107G|RHOT1_uc010wby.1_Missense_Mutation_p.R234G|RHOT1_uc002hhb.2_Missense_Mutation_p.R213G|RHOT1_uc002hgv.2_Missense_Mutation_p.R234G NM_018307 NP_060777 Q8IXI2 MIRO1_HUMAN ras homolog gene family, member T1 isoform 3 234 Mitochondrial intermembrane (Potential). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding ovary(3)|central_nervous_system(1) 4 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) GAATGTAGTCAGAAAACATAT 0.358 39 56 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33504141 33504141 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:33504141G>T uc002hja.2 + 16 2234 c.2137G>T c.(2137-2139)GGG>TGG p.G713W UNC45B_uc002hjb.2_Missense_Mutation_p.G711W|UNC45B_uc002hjc.2_Missense_Mutation_p.G711W|UNC45B_uc010cto.2_Missense_Mutation_p.G632W NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 713 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TGCTTTTCCTGGGGAGCGGGT 0.577 33 43 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35913393 35913393 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:35913393T>C uc002hoa.2 - 14 2515 c.2432A>G c.(2431-2433)AAG>AGG p.K811R SYNRG_uc010wde.1_Missense_Mutation_p.K733R|SYNRG_uc010wdf.1_Missense_Mutation_p.K733R|SYNRG_uc002hoc.2_Missense_Mutation_p.K732R|SYNRG_uc002hoe.2_Missense_Mutation_p.K733R|SYNRG_uc002hod.2_Missense_Mutation_p.K733R|SYNRG_uc010wdg.1_Missense_Mutation_p.K650R|SYNRG_uc002hob.2_Missense_Mutation_p.K811R|SYNRG_uc002hof.2_Missense_Mutation_p.K523R|SYNRG_uc010cvd.1_Missense_Mutation_p.K611R NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 811 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 ATCTAAGGACTTCACTGATGC 0.468 54 70 --- --- --- --- PASS KRT27 342574 broad.mit.edu 37 17 38938327 38938327 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:38938327G>C uc002hvg.2 - 1 460 c.419C>G c.(418-420)CCA>CGA p.P140R NM_181537 NP_853515 Q7Z3Y8 K1C27_HUMAN keratin 27 140 Rod.|Linker 1. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.000812) GTCAATAATTGGGAAATATCT 0.463 40 73 --- --- --- --- PASS KRTAP9-2 83899 broad.mit.edu 37 17 39382983 39382983 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:39382983C>A uc002hwf.2 + 1 84 c.77C>A c.(76-78)CCC>CAC p.P26H NM_031961 NP_114167 Q9BYQ4 KRA92_HUMAN keratin associated protein 9.2 26 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding upper_aerodigestive_tract(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGGAAGCCCACCACTGTG 0.642 4 113 --- --- --- --- PASS KRTAP9-8 83901 broad.mit.edu 37 17 39394365 39394365 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:39394365C>A uc002hwh.3 + 1 96 c.62C>A c.(61-63)CCC>CAC p.P21H KRTAP9-9_uc010wfq.1_Intron NM_031963 NP_114169 Q9BYQ0 KRA98_HUMAN keratin associated protein 9.8 21 15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI]. keratin filament ovary(1) 1 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGGAAGCCCACCACTGTG 0.607 5 130 --- --- --- --- PASS KRTAP9-4 85280 broad.mit.edu 37 17 39406049 39406049 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:39406049C>A uc002hwi.2 + 1 111 c.77C>A c.(76-78)CCC>CAC p.P26H KRTAP9-9_uc010wfq.1_Intron NM_033191 NP_149461 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 26 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) TGCTGGAAGCCCACCACTGTG 0.622 29 73 --- --- --- --- PASS KRT16 3868 broad.mit.edu 37 17 39767163 39767163 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:39767163C>A uc002hxg.3 - 5 1141 c.1002G>T c.(1000-1002)ACG>ACT p.T334T JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 334 Rod.|Coil 2. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TCCGGAGCTCCGTCACCTCAC 0.597 42 48 --- --- --- --- PASS MYL4 4635 broad.mit.edu 37 17 45299068 45299068 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:45299068G>T uc002ilg.2 + 5 462 c.334G>T c.(334-336)GAC>TAC p.D112Y MYL4_uc002ilh.2_Missense_Mutation_p.D112Y NM_001002841 NP_001002841 P12829 MYL4_HUMAN atrial/embryonic alkali myosin light chain 112 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle ovary(2) 2 CAAGATGCTGGACTTTGAGAC 0.537 73 102 --- --- --- --- PASS GIP 2695 broad.mit.edu 37 17 47044509 47044509 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:47044509C>A uc002iol.1 - 2 184 c.86G>T c.(85-87)AGC>ATC p.S29I NM_004123 NP_004114 P09681 GIP_HUMAN gastric inhibitory polypeptide preproprotein 29 energy reserve metabolic process|signal transduction extracellular region|soluble fraction hormone activity skin(1) 1 CCACTCCTACCTGAAGTGACC 0.527 4 129 --- --- --- --- PASS ANKFN1 162282 broad.mit.edu 37 17 54554865 54554865 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:54554865A>G uc002iun.1 + 15 1834 c.1799A>G c.(1798-1800)CAC>CGC p.H600R NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 600 large_intestine(1)|ovary(1) 2 CTATCCTATCACAAAAGGAGT 0.348 31 39 --- --- --- --- PASS INTS2 57508 broad.mit.edu 37 17 60004014 60004014 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:60004014T>C uc002izn.2 - 2 92 c.16A>G c.(16-18)ACA>GCA p.T6A INTS2_uc002izm.2_5'UTR NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 6 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 ATTATTACTGTTTGTTGATCC 0.363 6 16 --- --- --- --- PASS GH2 2689 broad.mit.edu 37 17 61957775 61957775 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:61957775C>T uc002jco.1 - 5 622 c.560G>A c.(559-561)GGG>GAG p.G187E GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_3'UTR|GH2_uc002jcm.1_Missense_Mutation_p.G186S|GH2_uc002jcn.1_Missense_Mutation_p.G172E NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 187 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 GTAGAGCAGCCCGTAGTTCTT 0.562 44 69 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67186506 67186506 + Missense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:67186506A>T uc010dfa.1 - 19 3003 c.2124T>A c.(2122-2124)GAT>GAA p.D708E ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.D309E NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 708 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TACCTGGTTCATCAATTGCTG 0.323 30 48 --- --- --- --- PASS KCNJ2 3759 broad.mit.edu 37 17 68171777 68171777 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:68171777C>T uc010dfg.2 + 2 998 c.597C>T c.(595-597)GCC>GCT p.A199A KCNJ2_uc002jir.2_Silent_p.A199A NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 199 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) GTCACAATGCCGTGATTGCCA 0.512 55 68 --- --- --- --- PASS KIF19 124602 broad.mit.edu 37 17 72351440 72351440 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:72351440C>G uc002jkm.3 + 20 3124 c.2986C>G c.(2986-2988)CGG>GGG p.R996G NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 996 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TGGATGCTCCCGGCATAACTG 0.647 8 19 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72845955 72845955 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:72845955G>T uc002jlt.1 - 7 1765 c.1609C>A c.(1609-1611)CGC>AGC p.R537S GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Missense_Mutation_p.R537S NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 537 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CCATTGCTGCGAGCCACCATC 0.627 43 70 --- --- --- --- PASS OTOP2 92736 broad.mit.edu 37 17 72923879 72923879 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:72923879G>A uc010wrp.1 + 6 718 c.629G>A c.(628-630)CGT>CAT p.R210H OTOP2_uc002jmf.1_3'UTR NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 210 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) AGCCACGCCCGTCTCATCTCT 0.577 17 27 --- --- --- --- PASS LLGL2 3993 broad.mit.edu 37 17 73560510 73560510 + Missense_Mutation SNP G A A rs34553577 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:73560510G>A uc002joh.2 + 10 1112 c.958G>A c.(958-960)GAT>AAT p.D320N LLGL2_uc002jog.1_Missense_Mutation_p.D320N|LLGL2_uc010dgf.1_Missense_Mutation_p.D320N|LLGL2_uc002joi.2_Missense_Mutation_p.D320N|LLGL2_uc010dgg.1_Missense_Mutation_p.D320N|LLGL2_uc002joj.2_Missense_Mutation_p.D309N|LLGL2_uc010wsd.1_5'UTR|uc002jok.2_5'Flank NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 320 WD 6. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AGTGATCCACGATGGCCAGCA 0.637 42 53 --- --- --- --- PASS C17orf56 146705 broad.mit.edu 37 17 79205420 79205420 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr17:79205420C>T uc002jzu.1 - 9 795 c.773G>A c.(772-774)CGC>CAC p.R258H C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_Missense_Mutation_p.R174H|C17orf56_uc002jzt.1_Missense_Mutation_p.R174H|C17orf56_uc002jzv.1_Missense_Mutation_p.R106H|uc002jzw.1_RNA NM_144679 NP_653280 Q96N21 CQ056_HUMAN hypothetical protein LOC146705 258 integral to membrane 0 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CAGGAAGGCGCGTGGTCCCCG 0.667 13 22 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5438068 5438068 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:5438068G>C uc002kmt.1 - 6 657 c.571C>G c.(571-573)CCA>GCA p.P191A EPB41L3_uc010wzh.1_Missense_Mutation_p.P191A|EPB41L3_uc002kmu.1_Missense_Mutation_p.P191A|EPB41L3_uc010dkq.1_Missense_Mutation_p.P82A|EPB41L3_uc010dks.1_Missense_Mutation_p.P213A|EPB41L3_uc002kmv.1_Missense_Mutation_p.P82A NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 191 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GCAGGGTCTGGTGGATAAAAT 0.383 28 97 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 5969551 5969551 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:5969551C>A uc002kmz.3 - 18 1642 c.1482G>T c.(1480-1482)GTG>GTT p.V494V L3MBTL4_uc010dkt.2_Silent_p.V494V|L3MBTL4_uc002kmy.3_Silent_p.V323V NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 494 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) GCGCCTGCTCCACCGAGTATT 0.627 40 41 --- --- --- --- PASS ARHGAP28 79822 broad.mit.edu 37 18 6873568 6873568 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:6873568G>T uc010wzi.1 + 7 822 c.584G>T c.(583-585)GGA>GTA p.G195V ARHGAP28_uc002knc.2_Missense_Mutation_p.G320V|ARHGAP28_uc002knd.2_Missense_Mutation_p.G213V|ARHGAP28_uc002kne.2_Missense_Mutation_p.G213V|ARHGAP28_uc002knf.2_Missense_Mutation_p.G204V B4DXL2 B4DXL2_HUMAN SubName: Full=Putative uncharacterized protein ARHGAP28; 195 signal transduction intracellular pancreas(1) 1 Colorectal(10;0.168) AAAGTAAAAGGACGAGGTAAC 0.358 41 67 --- --- --- --- PASS CEP192 55125 broad.mit.edu 37 18 13056424 13056424 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:13056424C>T uc010xac.1 + 19 3915 c.3835C>T c.(3835-3837)CAG>TAG p.Q1279* CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.Q804*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Nonsense_Mutation_p.Q1020* NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1279 ovary(4)|pancreas(1) 5 CACCTTGCCTCAGTGCCATGC 0.562 24 62 --- --- --- --- PASS MC2R 4158 broad.mit.edu 37 18 13885023 13885023 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:13885023C>A uc002ksp.1 - 2 672 c.495G>T c.(493-495)ATG>ATT p.M165I NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 165 Helical; Name=4; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) AGAAGATCACCATGGTGATGC 0.572 33 54 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806327 22806327 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:22806327A>G uc002kvk.2 - 4 1802 c.1555T>C c.(1555-1557)TAT>CAT p.Y519H ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.Y519H|ZNF521_uc002kvl.2_Missense_Mutation_p.Y299H NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 519 C2H2-type 12. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AACCCCATATAGCAATGGGGA 0.473 T PAX5 ALL 35 553 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806627 22806627 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:22806627C>A uc002kvk.2 - 4 1502 c.1255G>T c.(1255-1257)GCA>TCA p.A419S ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A419S|ZNF521_uc002kvl.2_Missense_Mutation_p.A199S NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 419 C2H2-type 9; degenerate. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCAGAACTGCAAGACTTGAA 0.438 T PAX5 ALL 38 577 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806745 22806745 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:22806745C>G uc002kvk.2 - 4 1384 c.1137G>C c.(1135-1137)AAG>AAC p.K379N ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.K379N|ZNF521_uc002kvl.2_Missense_Mutation_p.K159N NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 379 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCCTCGACTCTTTGGGATTG 0.532 T PAX5 ALL 38 549 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806872 22806872 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:22806872G>A uc002kvk.2 - 4 1257 c.1010C>T c.(1009-1011)TCA>TTA p.S337L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S337L|ZNF521_uc002kvl.2_Missense_Mutation_p.S117L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 337 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GTGATTGCATGACTCCGGTTG 0.527 T PAX5 ALL 34 344 --- --- --- --- PASS AQP4 361 broad.mit.edu 37 18 24436197 24436197 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:24436197C>G uc002kwa.2 - 5 1013 c.950G>C c.(949-951)GGA>GCA p.G317A AQP4_uc002kvz.2_Missense_Mutation_p.G295A NM_001650 NP_001641 P55087 AQP4_HUMAN aquaporin 4 isoform a 317 Cytoplasmic (Potential). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity 0 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CAATACCTCTCCAGATTGGTC 0.468 77 848 --- --- --- --- PASS ZNF407 55628 broad.mit.edu 37 18 72343094 72343094 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:72343094T>A uc002llw.2 + 1 176 c.119T>A c.(118-120)ATA>AAA p.I40K ZNF407_uc010xfc.1_Missense_Mutation_p.I40K|ZNF407_uc010dqu.1_Missense_Mutation_p.I40K|ZNF407_uc002llu.2_Missense_Mutation_p.I39K NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 40 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TCTGATGTGATAGCAAGTTTC 0.388 23 16 --- --- --- --- PASS ZNF516 9658 broad.mit.edu 37 18 74154101 74154101 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:74154101T>A uc010dqx.1 - 2 1145 c.910A>T c.(910-912)AGC>TGC p.S304C ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTGTTCTTGCTGCCCGTCTTG 0.637 27 23 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74962644 74962644 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:74962644G>T uc002lms.3 + 1 637 c.140G>T c.(139-141)GGT>GTT p.G47V NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 47 Helical; Name=1; (Potential). digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity lung(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) TTCGCGCTGGGTGTGCTGGGC 0.682 16 5 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754897 76754897 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:76754897G>C uc002lmt.2 + 2 2906 c.2906G>C c.(2905-2907)AGG>ACG p.R969T SALL3_uc010dra.2_Missense_Mutation_p.R576T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 969 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTCCTGAGCAGGGAGCGGGGT 0.468 7 10 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 76953201 76953201 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr18:76953201G>T uc002lmx.2 + 9 906 c.892G>T c.(892-894)GCT>TCT p.A298S ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.A298S|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 298 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) TTCTATCAGTGCTTATGTTTA 0.313 48 31 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 440869 440869 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:440869C>A uc002loq.3 - 2 532 c.532G>T c.(532-534)GTG>TTG p.V178L SHC2_uc002lop.3_5'Flank NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 178 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CACCTGGTCACCTGCGTGCGC 0.642 41 91 --- --- --- --- PASS POLRMT 5442 broad.mit.edu 37 19 621340 621340 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:621340C>G uc002lpf.1 - 10 2414 c.2358G>C c.(2356-2358)GCG>GCC p.A786A NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 786 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCAGGTGCTGCGCCAGCGAGA 0.721 18 16 --- --- --- --- PASS POLRMT 5442 broad.mit.edu 37 19 621342 621342 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:621342C>T uc002lpf.1 - 10 2412 c.2356G>A c.(2356-2358)GCG>ACG p.A786T NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 786 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AGGTGCTGCGCCAGCGAGAGG 0.721 17 16 --- --- --- --- PASS HMHA1 23526 broad.mit.edu 37 19 1073249 1073249 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:1073249G>A uc002lqz.1 + 3 754 c.523G>A c.(523-525)GAG>AAG p.E175K HMHA1_uc010xgd.1_Missense_Mutation_p.E191K|HMHA1_uc010xge.1_Missense_Mutation_p.E15K|HMHA1_uc002lra.1_Missense_Mutation_p.E15K|HMHA1_uc002lrb.1_Missense_Mutation_p.E58K NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 175 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GAACACCGTGGAGACGCTCAC 0.592 37 79 --- --- --- --- PASS SGTA 6449 broad.mit.edu 37 19 2757453 2757453 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:2757453C>A uc002lwi.1 - 11 977 c.830G>T c.(829-831)GGC>GTC p.G277V NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 277 Gln-rich. interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 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) AAACTGCTGGCCCCTGCGGGG 0.672 21 19 --- --- --- --- PASS AES 166 broad.mit.edu 37 19 3055691 3055691 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:3055691C>A uc002lwy.1 - 5 441 c.268G>T c.(268-270)GCC>TCC p.A90S AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.A90S|AES_uc002lxa.1_Missense_Mutation_p.A34S|AES_uc002lxb.1_Missense_Mutation_p.A157S|AES_uc002lxc.2_Missense_Mutation_p.A157S NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 90 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGACCTGGGCACAAATCCCG 0.642 12 140 --- --- --- --- PASS SAFB 6294 broad.mit.edu 37 19 5664436 5664436 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:5664436G>C uc002mcf.2 + 17 2373 c.2320G>C c.(2320-2322)GAA>CAA p.E774Q SAFB_uc002mcg.2_Missense_Mutation_p.E774Q|SAFB_uc002mce.3_Missense_Mutation_p.E773Q|SAFB_uc010xir.1_Missense_Mutation_p.E773Q|SAFB_uc010xis.1_Missense_Mutation_p.E705Q|SAFB_uc010xit.1_Missense_Mutation_p.E616Q|SAFB_uc010xiu.1_Missense_Mutation_p.E573Q NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 774 Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AATGATGGGAGAACGAGAAGG 0.473 24 50 --- --- --- --- PASS DUS3L 56931 broad.mit.edu 37 19 5790284 5790284 + Missense_Mutation SNP C T T rs145101341 byFrequency TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:5790284C>T uc002mdc.2 - 2 258 c.161G>A c.(160-162)TGC>TAC p.C54Y DUS3L_uc002mdd.2_Missense_Mutation_p.C54Y|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA NM_020175 NP_064560 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like isoform 1 54 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding 0 GGTTTCCCGGCAAGTCTTCTC 0.577 51 106 --- --- --- --- PASS FUT5 2527 broad.mit.edu 37 19 5867626 5867626 + Silent SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:5867626G>T uc002mdo.3 - 2 199 c.111C>A c.(109-111)TCC>TCA p.S37S FUT5_uc010duo.2_Silent_p.S37S NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 37 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 CATCGTCTCGGGACACACGCA 0.652 25 65 --- --- --- --- PASS ZNF558 148156 broad.mit.edu 37 19 8922260 8922260 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:8922260C>T uc002mkn.1 - 6 1136 c.906G>A c.(904-906)AGG>AGA p.R302R ZNF558_uc010xkh.1_Silent_p.R231R|ZNF558_uc010dwg.1_Silent_p.R302R NM_144693 NP_653294 Q96NG5 ZN558_HUMAN zinc finger protein 558 302 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1) 1 AGGAGCTCTTCCTGAAGGTTT 0.443 68 109 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9057646 9057646 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:9057646T>C uc002mkp.2 - 3 30004 c.29800A>G c.(29800-29802)ATC>GTC p.I9934V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9936 Ser-rich.|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 TCAGTGATGATGTCTGGAGAC 0.463 172 347 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10084623 10084623 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:10084623C>A uc002mmq.1 - 48 3616 c.3530G>T c.(3529-3531)CGG>CTG p.R1177L NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1177 Triple-helical region. 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) TTGGGGACCCCGAGGACCTGG 0.577 35 75 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10087287 10087287 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:10087287C>A uc002mmq.1 - 45 3375 c.3289G>T c.(3289-3291)GGC>TGC p.G1097C NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1097 Triple-helical region. 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) CCAGGTGGGCCCTGGGAGAAC 0.547 13 24 --- --- --- --- PASS RLN3 117579 broad.mit.edu 37 19 14141727 14141727 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:14141727G>C uc002mxw.1 + 2 396 c.396G>C c.(394-396)GGG>GGC p.G132G IL27RA_uc002mxx.2_5'Flank|RLN3_uc010dzj.1_3'UTR NM_080864 NP_543140 Q8WXF3 REL3_HUMAN relaxin 3 preproprotein 132 extracellular region hormone activity 0 GCAAGTGGGGGTGTAGCAAAA 0.597 41 141 --- --- --- --- PASS CYP4F22 126410 broad.mit.edu 37 19 15648391 15648391 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:15648391G>T uc002nbh.3 + 6 634 c.467G>T c.(466-468)CGT>CTT p.R156L NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 156 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 AGCCGGCACCGTCGCCTGCTG 0.542 53 83 --- --- --- --- PASS CPAMD8 27151 broad.mit.edu 37 19 17086940 17086940 + Missense_Mutation SNP T G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:17086940T>G uc002nfb.2 - 16 1953 c.1921A>C c.(1921-1923)AAT>CAT p.N641H NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 594 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TGGGTCTCATTTGCTGAATAC 0.438 21 58 --- --- --- --- PASS MPV17L2 84769 broad.mit.edu 37 19 18304774 18304774 + Silent SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:18304774A>G uc002nid.2 + 2 340 c.288A>G c.(286-288)CCA>CCG p.P96P MPV17L2_uc010ebj.2_Silent_p.P32P NM_032683 NP_116072 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 96 integral to membrane 0 GAGGCTTCCCAAATGTCCTCA 0.587 31 77 --- --- --- --- PASS ELL 8178 broad.mit.edu 37 19 18561352 18561352 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:18561352C>A uc002njh.2 - 8 1472 c.1400G>T c.(1399-1401)CGG>CTG p.R467L ELL_uc010ebq.2_Missense_Mutation_p.R410L|ELL_uc002njg.2_Missense_Mutation_p.R334L NM_006532 NP_006523 P55199 ELL_HUMAN elongation factor RNA polymerase II 467 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding lung(1) 1 GBM - Glioblastoma multiforme(1328;7.81e-07) AAGCTGGGCCCGGGGCTTGTC 0.687 T MLL AL 57 39 --- --- --- --- PASS UPF1 5976 broad.mit.edu 37 19 18961004 18961004 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:18961004C>T uc002nkg.2 + 4 857 c.582C>T c.(580-582)CTC>CTT p.L194L UPF1_uc002nkf.2_Silent_p.L194L NM_002911 NP_002902 Q92900 RENT1_HUMAN regulator of nonsense transcripts 1 194 Sufficient for interaction with RENT2.|C4-type. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 TCTTCCTCCTCGGCTTCATCC 0.607 60 128 --- --- --- --- PASS ZNF85 7639 broad.mit.edu 37 19 21132690 21132690 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:21132690A>C uc002npg.3 + 4 1497 c.1370A>C c.(1369-1371)GAA>GCA p.E457A ZNF85_uc010ecn.2_Missense_Mutation_p.E392A|ZNF85_uc010eco.2_Missense_Mutation_p.E405A|ZNF85_uc002npi.2_Missense_Mutation_p.E398A NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 457 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 TATGAATGTGAAAAATGTGGC 0.333 9 33 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940721 22940721 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:22940721G>T uc010xrh.1 - 5 1717 c.1717C>A c.(1717-1719)CTT>ATT p.L573I NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGTCTAGTAAGGTGTGAGGAC 0.378 18 37 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23542322 23542322 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:23542322C>G uc002nre.2 - 4 3572 c.3459G>C c.(3457-3459)AAG>AAC p.K1153N ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.K1121N NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1153 C2H2-type 36. 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) TATGAATTTTCTTATGGTTAG 0.189 20 59 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31769848 31769848 + Missense_Mutation SNP A C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:31769848A>C uc002nsy.3 - 2 916 c.851T>G c.(850-852)TTT>TGT p.F284C NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 284 C2H2-type 2. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CAGGGACTCAAAGGAGTGGCC 0.522 66 118 --- --- --- --- PASS KRTDAP 388533 broad.mit.edu 37 19 35981310 35981310 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:35981310A>G uc002nzh.2 - 1 47 c.35T>C c.(34-36)CTC>CCC p.L12P NM_207392 NP_997275 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 12 cell differentiation extracellular region 0 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAGGAGGGAGAGGAGCACCAC 0.577 80 123 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36218436 36218436 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:36218436G>C uc010eei.2 + 17 4215 c.4215G>C c.(4213-4215)CTG>CTC p.L1405L NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1405 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGAGGCCCTGAGCGGGGCCC 0.687 29 113 --- --- --- --- PASS MLL4 9757 broad.mit.edu 37 19 36223339 36223339 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:36223339G>A uc010eei.2 + 29 5889 c.5889G>A c.(5887-5889)CCG>CCA p.P1963P NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1963 Poly-Pro. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCCTGGCCCGGCCCCATCTC 0.657 4 48 --- --- --- --- PASS ZFP30 22835 broad.mit.edu 37 19 38127064 38127064 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:38127064C>A uc002ogv.1 - 6 894 c.378G>T c.(376-378)AGG>AGT p.R126S ZFP30_uc002ogw.1_Missense_Mutation_p.R126S|ZFP30_uc002ogx.1_Missense_Mutation_p.R126S|ZFP30_uc010xtt.1_Missense_Mutation_p.R125S NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGTCACTTGCCTGAAACACA 0.373 35 77 --- --- --- --- PASS SPRED3 399473 broad.mit.edu 37 19 38882899 38882899 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:38882899G>T uc002oim.2 + 3 398 c.394G>T c.(394-396)GAT>TAT p.D132Y SPRED3_uc002oil.1_Missense_Mutation_p.D132Y NM_001042522 NP_001035987 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 132 Ser-rich. multicellular organismal development central_nervous_system(2)|lung(1)|skin(1) 4 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) tcctTCCCAGGATACTGCAGA 0.443 6 10 --- --- --- --- PASS NCCRP1 342897 broad.mit.edu 37 19 39688711 39688711 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:39688711C>A uc002okq.1 + 2 375 c.356C>A c.(355-357)CCA>CAA p.P119Q NM_001001414 NP_001001414 Q6ZVX7 NCRP1_HUMAN non-specific cytotoxic cell receptor protein 1 119 FBA. protein catabolic process ovary(1) 1 ATTTATGAGCCAGCACCCCCT 0.627 4 162 --- --- --- --- PASS ZNF780B 163131 broad.mit.edu 37 19 40541700 40541700 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:40541700T>C uc002omu.2 - 5 1131 c.1066A>G c.(1066-1068)ATG>GTG p.M356V ZNF780B_uc002omv.2_Missense_Mutation_p.M208V NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TTCTCACCCATATGAATCTTC 0.423 52 63 --- --- --- --- PASS ITPKC 80271 broad.mit.edu 37 19 41242989 41242989 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:41242989C>G uc002oot.2 + 5 1806 c.1773C>G c.(1771-1773)ATC>ATG p.I591M NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 591 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACCACGTCATCCTGGTGAGTG 0.333 5 10 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42860341 42860341 + Nonsense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:42860341C>G uc002otl.3 + 24 4933 c.4298C>G c.(4297-4299)TCA>TGA p.S1433* MEGF8_uc002otm.3_Nonsense_Mutation_p.S1041* NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1500 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) AGCCGCCTCTCAGCCGTGAGT 0.657 3 3 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42879930 42879930 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:42879930G>T uc002otl.3 + 41 7975 c.7340G>T c.(7339-7341)CGT>CTT p.R2447L MEGF8_uc002otm.3_Missense_Mutation_p.R2055L|MEGF8_uc002otn.3_Missense_Mutation_p.R108L NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2514 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) TTCGTGGTCCGTGTGGCCCCT 0.652 16 29 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47422255 47422255 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:47422255A>G uc010ekv.2 + 1 323 c.323A>G c.(322-324)CAT>CGT p.H108R NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 108 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) TTTCAACCTCATCGAAGCACG 0.493 59 141 --- --- --- --- PASS SLC8A2 6543 broad.mit.edu 37 19 47968997 47968997 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:47968997C>A uc002pgx.2 - 2 942 c.664G>T c.(664-666)GGT>TGT p.G222C SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.G222C NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 222 Extracellular (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) TGGACCACACCGGGGGAAAAA 0.498 6 11 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51135922 51135922 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:51135922C>T uc002pst.2 - 2 929 c.295G>A c.(295-297)GAC>AAC p.D99N SYT3_uc002psv.2_Missense_Mutation_p.D99N|SYT3_uc010ycd.1_Missense_Mutation_p.D99N NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 99 Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) GGGCCTAGGTCTTTGCGCAGG 0.697 21 31 --- --- --- --- PASS ZNF610 162963 broad.mit.edu 37 19 52856995 52856995 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:52856995G>T uc002pyx.3 + 4 530 c.124G>T c.(124-126)GAC>TAC p.D42Y ZNF610_uc002pyy.3_Missense_Mutation_p.D42Y|ZNF610_uc002pyz.3_Missense_Mutation_p.D42Y|ZNF610_uc002pza.2_Missense_Mutation_p.D42Y NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GAAATCCCTGGACCCTGGACA 0.493 40 86 --- --- --- --- PASS ZNF534 147658 broad.mit.edu 37 19 52941112 52941112 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:52941112G>T uc002pzk.2 + 4 499 c.438G>T c.(436-438)AAG>AAT p.K146N ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.K133N NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGGATGTAAGCATGTTGAGA 0.323 23 57 --- --- --- --- PASS ZNF701 55762 broad.mit.edu 37 19 53086642 53086642 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:53086642G>T uc002pzs.1 + 4 1457 c.1330G>T c.(1330-1332)GGC>TGC p.G444C ZNF701_uc010ydn.1_Missense_Mutation_p.G510C NM_018260 NP_060730 Q9NV72 ZN701_HUMAN zinc finger protein 701 444 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) TAATGAATGTGGCAAGGTTTT 0.353 17 24 --- --- --- --- PASS ZNF765 91661 broad.mit.edu 37 19 53911449 53911449 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:53911449C>G uc010ydx.1 + 6 968 c.641C>G c.(640-642)TCT>TGT p.S214C ZNF765_uc002qbm.2_Missense_Mutation_p.S214C|ZNF765_uc002qbn.2_Intron NM_001040185 NP_001035275 Q7L2R6 ZN765_HUMAN zinc finger protein 765 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00379) AGGGAAAAATCTTTCCAATGC 0.338 17 30 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54392977 54392977 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:54392977T>C uc002qcq.1 + 4 653 c.371T>C c.(370-372)CTT>CCT p.L124P PRKCG_uc010eqz.1_Missense_Mutation_p.L124P|PRKCG_uc010yef.1_Missense_Mutation_p.L124P|PRKCG_uc010yeg.1_Missense_Mutation_p.L124P|PRKCG_uc010yeh.1_Intron NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 124 Phorbol-ester/DAG-type 2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTCTACGGGCTTGTGCACCAG 0.632 16 19 --- --- --- --- PASS TFPT 29844 broad.mit.edu 37 19 54613499 54613499 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:54613499G>T uc010yej.1 - 3 694 c.288C>A c.(286-288)AAC>AAA p.N96K TFPT_uc010erd.2_Missense_Mutation_p.N96K NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner 96 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding 0 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) GGACCCGCTCGTTCACCTATG 0.577 T TCF3 pre-B ALL 21 48 --- --- --- --- PASS KIR3DX1 90011 broad.mit.edu 37 19 55044296 55044296 + RNA SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:55044296G>A uc010yfa.1 + 2 c.175G>A KIR3DX1_uc010yfb.1_RNA|KIR3DX1_uc010yfc.1_RNA|KIR3DX1_uc010yfd.1_RNA NR_026716 Homo sapiens mRNA for FLJ00060 protein, partial cds. ovary(1) 1 GBM - Glioblastoma multiforme(193;0.099) GCCCACATGCGGGTGAGTCCT 0.473 51 77 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55417567 55417567 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:55417567C>A uc002qib.2 + 1 60 c.22C>A c.(22-24)CTG>ATG p.L8M NCR1_uc002qic.2_Missense_Mutation_p.L8M|NCR1_uc002qie.2_Missense_Mutation_p.L8M|NCR1_uc002qid.2_Missense_Mutation_p.L8M|NCR1_uc002qif.2_Missense_Mutation_p.L8M|NCR1_uc010esj.2_Missense_Mutation_p.L8M NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 8 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) ACTCCCTGCCCTGCTCTGCGT 0.612 34 93 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56243388 56243388 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:56243388T>C uc002qly.2 - 2 1837 c.1809A>G c.(1807-1809)CCA>CCG p.P603P NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 603 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTGAGTCATCTGGAAAGATAT 0.428 20 22 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56243389 56243389 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:56243389G>T uc002qly.2 - 2 1836 c.1808C>A c.(1807-1809)CCA>CAA p.P603Q NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 603 cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TGAGTCATCTGGAAAGATATT 0.423 20 22 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56487502 56487502 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:56487502G>A uc002qmh.2 + 8 2780 c.2709G>A c.(2707-2709)CTG>CTA p.L903L NLRP8_uc010etg.2_Silent_p.L884L NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 903 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTTGCAGACTGAGAAAGTGTG 0.274 27 49 --- --- --- --- PASS ZNF264 9422 broad.mit.edu 37 19 57723037 57723037 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:57723037G>T uc002qob.2 + 4 985 c.572G>T c.(571-573)GGT>GTT p.G191V NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TGTGAGTCAGGTAAAGATCCC 0.418 13 44 --- --- --- --- PASS ZSCAN4 201516 broad.mit.edu 37 19 58189754 58189754 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:58189754C>G uc002qpu.2 + 5 1480 c.783C>G c.(781-783)ATC>ATG p.I261M NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 261 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAAATGGAATCACTTTCCAAG 0.507 24 66 --- --- --- --- PASS ZNF329 79673 broad.mit.edu 37 19 58639432 58639432 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:58639432T>C uc002qrn.2 - 4 1676 c.1439A>G c.(1438-1440)GAG>GGG p.E480G ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) ATATGGGGTCTCCTTAGTGTG 0.522 51 84 --- --- --- --- PASS SIGLEC1 6614 broad.mit.edu 37 20 3670649 3670649 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:3670649G>C uc002wja.2 - 18 4854 c.4854C>G c.(4852-4854)GTC>GTG p.V1618V SIGLEC1_uc002wjb.1_Silent_p.V257V|SIGLEC1_uc002wiz.3_Silent_p.V1618V NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 1618 Ig-like C2-type 16.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CAGAGCCCAGGACATTTGAGG 0.607 6 18 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8737759 8737759 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:8737759G>T uc002wnb.2 + 24 2593 c.2590G>T c.(2590-2592)GTG>TTG p.V864L PLCB1_uc010zrb.1_Missense_Mutation_p.V763L|PLCB1_uc002wna.2_Missense_Mutation_p.V864L|PLCB1_uc002wnc.1_Missense_Mutation_p.V763L|PLCB1_uc002wnd.1_Missense_Mutation_p.V441L NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 864 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGAAAATGGGGTGAATCACAC 0.498 27 68 --- --- --- --- PASS DSTN 11034 broad.mit.edu 37 20 17581618 17581618 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:17581618G>A uc002wpr.2 + 2 494 c.239G>A c.(238-240)TGT>TAT p.C80Y DSTN_uc002wpq.2_Missense_Mutation_p.C63Y|DSTN_uc010gck.2_Missense_Mutation_p.C63Y NM_006870 NP_006861 P60981 DEST_HUMAN destrin isoform a 80 ADF-H. actin filament severing|actin polymerization or depolymerization actin binding large_intestine(1)|skin(1) 2 GAAAAAGATTGTCGCTATGCT 0.363 64 89 --- --- --- --- PASS SEC23B 10483 broad.mit.edu 37 20 18522958 18522958 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:18522958C>A uc002wqz.1 + 13 1866 c.1423C>A c.(1423-1425)CAA>AAA p.Q475K SEC23B_uc002wra.1_Missense_Mutation_p.Q475K|SEC23B_uc002wrb.1_Missense_Mutation_p.Q475K|SEC23B_uc010zsb.1_Missense_Mutation_p.Q457K|SEC23B_uc002wrc.1_Missense_Mutation_p.Q475K NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 475 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CCCGATCCCCCAAGGAGGCAG 0.547 81 184 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20270957 20270957 + Silent SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:20270957T>C uc002wru.2 + 24 3214 c.3138T>C c.(3136-3138)CCT>CCC p.P1046P C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1046 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GCATTCTTCCTGGGTCTTACC 0.388 54 85 --- --- --- --- PASS CST9L 128821 broad.mit.edu 37 20 23545589 23545589 + Missense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:23545589T>A uc002wtk.3 - 3 739 c.440A>T c.(439-441)CAC>CTC p.H147L NM_080610 NP_542177 Q9H4G1 CST9L_HUMAN cystatin 9-like precursor 147 extracellular region cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) TTTCACTCAGTGGAATCCCTC 0.532 46 91 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25439071 25439071 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:25439071C>A uc002wux.1 - 22 3865 c.3791G>T c.(3790-3792)CGC>CTC p.R1264L NINL_uc010gdn.1_Missense_Mutation_p.R915L|NINL_uc002wuw.1_Missense_Mutation_p.R55L NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1264 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GCTGAGCAGGCGATGCAGCTC 0.667 27 45 --- --- --- --- PASS DEFB115 245929 broad.mit.edu 37 20 29847261 29847261 + Splice_Site SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:29847261A>T uc002wvp.1 + 2 95 c.95_splice c.e2-2 p.D32_splice NM_001037730 NP_001032819 Q30KQ5 DB115_HUMAN beta-defensin 115 precursor defense response to bacterium extracellular region ovary(1) 1 Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347) TTATTTTGATAGATGGATGGA 0.299 27 38 --- --- --- --- PASS C20orf112 140688 broad.mit.edu 37 20 31044086 31044086 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:31044086G>A uc002wxu.3 - 3 379 c.222C>T c.(220-222)GCC>GCT p.A74A C20orf112_uc010gec.2_5'UTR NM_080616 NP_542183 Q96MY1 CT112_HUMAN hypothetical protein LOC140688 74 0 TGGGGGCCACGGCGCCGTTGC 0.667 34 47 --- --- --- --- PASS DNMT3B 1789 broad.mit.edu 37 20 31375187 31375187 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:31375187G>T uc002wyc.2 + 6 905 c.584G>T c.(583-585)AGC>ATC p.S195I DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.S195I|DNMT3B_uc002wye.2_Missense_Mutation_p.S195I|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.S153I|DNMT3B_uc010zua.1_Missense_Mutation_p.S119I|DNMT3B_uc002wyf.2_Missense_Mutation_p.S207I NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 195 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 GCCCAGGACAGCCAGCAGGGG 0.632 46 56 --- --- --- --- PASS SNTA1 6640 broad.mit.edu 37 20 31998117 31998117 + Missense_Mutation SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:31998117G>C uc002wzd.1 - 6 1333 c.1061C>G c.(1060-1062)TCC>TGC p.S354C SNTA1_uc010zuf.1_Missense_Mutation_p.S279C NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 354 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 TGAGCCCTTGGAGGGGCCTGA 0.642 7 5 --- --- --- --- PASS DLGAP4 22839 broad.mit.edu 37 20 35060493 35060493 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:35060493C>T uc002xff.2 + 3 808 c.373C>T c.(373-375)CCC>TCC p.P125S DLGAP4_uc010zvp.1_Missense_Mutation_p.P125S NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 125 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCTCCAATTTCCCCGTGGCGA 0.632 48 90 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37580850 37580850 + Missense_Mutation SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:37580850C>G uc002xjg.2 + 4 1576 c.1535C>G c.(1534-1536)TCT>TGT p.S512C NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 482 Ser-rich. cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) TCCTCTGTGTCTTCCCAAGGC 0.507 58 54 --- --- --- --- PASS MYBL2 4605 broad.mit.edu 37 20 42331428 42331428 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:42331428G>A uc002xlb.1 + 8 1465 c.1250G>A c.(1249-1251)CGT>CAT p.R417H MYBL2_uc010zwj.1_Missense_Mutation_p.R393H|MYBL2_uc002xla.1_Missense_Mutation_p.R417H NM_002466 NP_002457 P10244 MYBB_HUMAN MYB-related protein B 417 Nuclear localization signal. nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.R417C(1) lung(3)|kidney(2) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGGAAGAGGCGTGTGGCTCTG 0.617 19 72 --- --- --- --- PASS TOX2 84969 broad.mit.edu 37 20 42683132 42683132 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:42683132C>T uc002xlf.3 + 5 889 c.872C>T c.(871-873)TCC>TTC p.S291F TOX2_uc010ggo.2_Missense_Mutation_p.S282F|TOX2_uc002xle.3_Missense_Mutation_p.S240F|TOX2_uc010ggp.2_Missense_Mutation_p.S240F|TOX2_uc002xlg.2_Missense_Mutation_p.S240F|TOX2_uc010zwk.1_Missense_Mutation_p.S160F NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 291 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) ATCGTGGCCTCCATGTGGGAC 0.582 6 23 --- --- --- --- PASS SEMG1 6406 broad.mit.edu 37 20 43836129 43836129 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:43836129C>T uc002xni.2 + 2 248 c.191C>T c.(190-192)TCT>TTT p.S64F SEMG1_uc002xnj.2_Missense_Mutation_p.S64F|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.S64F NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 64 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) GGCAGTTTTTCTATTCAATAC 0.393 56 83 --- --- --- --- PASS EEF1A2 1917 broad.mit.edu 37 20 62121863 62121863 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:62121863G>T uc002yfd.1 - 5 1099 c.998C>A c.(997-999)CCG>CAG p.P333Q EEF1A2_uc002yfe.1_Missense_Mutation_p.P333Q|EEF1A2_uc010gkg.1_Missense_Mutation_p.P333Q NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 333 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CTCCTGCGGCGGGTCAGACTT 0.667 61 23 --- --- --- --- PASS SOX18 54345 broad.mit.edu 37 20 62680534 62680534 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr20:62680534G>A uc002yhs.2 - 1 446 c.336C>T c.(334-336)AAC>AAT p.N112N NM_018419 NP_060889 P35713 SOX18_HUMAN SRY-box 18 112 HMG box. angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) TGAGCACCGCGTTGTGCAGGT 0.393 31 49 --- --- --- --- PASS JAM2 58494 broad.mit.edu 37 21 27078377 27078377 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr21:27078377C>A uc002ylp.1 + 7 1329 c.784C>A c.(784-786)CAG>AAG p.Q262K JAM2_uc011ace.1_Missense_Mutation_p.Q262K|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.Q226K|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.Q262K|JAM2_uc010gli.1_Missense_Mutation_p.Q262K NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 262 Cytoplasmic (Potential). blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 ATGCTATGCTCAGAGGAAAGG 0.403 37 80 --- --- --- --- PASS HLCS 3141 broad.mit.edu 37 21 38137351 38137351 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr21:38137351C>A uc010gnb.2 - 8 2843 c.1642G>T c.(1642-1644)GCT>TCT p.A548S HLCS_uc002yvs.2_Missense_Mutation_p.A548S NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase 548 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TCCACGACAGCCACGGACATC 0.527 63 79 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47851652 47851652 + Silent SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr21:47851652A>T uc002zji.3 + 38 8381 c.8274A>T c.(8272-8274)TCA>TCT p.S2758S PCNT_uc002zjj.2_Silent_p.S2640S NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2758 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TGGAGCTGTCAGAGGCCTTGC 0.657 15 14 --- --- --- --- PASS S100B 6285 broad.mit.edu 37 21 48019325 48019325 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr21:48019325A>G uc002zju.1 - 3 341 c.230T>C c.(229-231)TTT>TCT p.F77S S100B_uc002zjv.1_3'UTR NM_006272 NP_006263 P04271 S100B_HUMAN S100 calcium-binding protein, beta 77 EF-hand 2. axonogenesis|cell proliferation|central nervous system development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular region|nucleus|perinuclear region of cytoplasm|ruffle calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|RAGE receptor binding|S100 beta binding|tau protein binding|zinc ion binding 0 Breast(49;0.247) Lung NSC(3;0.245) OV - Ovarian serous cystadenocarcinoma(3;1.84e-06)|Epithelial(3;4.45e-06)|all cancers(3;2.07e-05)|Colorectal(79;0.241) CATGGCAACAAAGGCCATGAA 0.458 61 109 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17589968 17589968 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:17589968G>A uc002zly.2 + 13 1992 c.1859G>A c.(1858-1860)CGG>CAG p.R620Q IL17RA_uc010gqt.2_Missense_Mutation_p.R568Q NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 620 Cytoplasmic (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) ATCGTGAAGCGGGCGCCCCTG 0.652 4 11 --- --- --- --- PASS PRAME 23532 broad.mit.edu 37 22 22893284 22893284 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:22893284C>T uc002zwf.2 - 3 405 c.249G>A c.(247-249)CTG>CTA p.L83L LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.L67L|PRAME_uc010gtr.2_Silent_p.L83L|PRAME_uc002zwg.2_Silent_p.L83L|PRAME_uc002zwh.2_Silent_p.L83L|PRAME_uc002zwi.2_Silent_p.L83L|PRAME_uc002zwj.2_Silent_p.L83L|PRAME_uc002zwk.2_Silent_p.L83L NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 83 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(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)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TCAGCACTCCCAGAGGGAGGC 0.587 30 105 --- --- --- --- PASS GGT5 2687 broad.mit.edu 37 22 24629879 24629879 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:24629879G>A uc002zzo.3 - 2 684 c.267C>T c.(265-267)GGC>GGT p.G89G GGT5_uc002zzp.3_Silent_p.G89G|GGT5_uc002zzr.3_Silent_p.G89G|GGT5_uc002zzq.3_Silent_p.G89G|GGT5_uc011ajm.1_Intron|GGT5_uc011ajn.1_Intron NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 89 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 TGACCCCTCCGCCCAGGCCCA 0.612 24 38 --- --- --- --- PASS PES1 23481 broad.mit.edu 37 22 30975748 30975748 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:30975748T>A uc003aij.1 - 12 1418 c.1344A>T c.(1342-1344)GGA>GGT p.G448G PES1_uc003aik.1_Silent_p.G443G|PES1_uc003ail.1_Silent_p.G431G|PES1_uc003aim.1_Silent_p.G448G|PES1_uc003ain.1_Silent_p.G309G|PES1_uc003aio.1_Silent_p.G309G NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 448 cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CTGGGTCCTCTCCCCGCTGCA 0.622 31 67 --- --- --- --- PASS TMPRSS6 164656 broad.mit.edu 37 22 37480798 37480798 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:37480798G>A uc003aqs.1 - 9 1196 c.1082C>T c.(1081-1083)TCG>TTG p.S361L TMPRSS6_uc003aqt.1_Missense_Mutation_p.S352L|TMPRSS6_uc003aqu.2_Missense_Mutation_p.S352L NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 361 CUB 2.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 GGTTTGGGGCGAGTAGTAGCT 0.652 4 9 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38130422 38130422 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:38130422C>A uc003atr.2 + 9 4350 c.4079C>A c.(4078-4080)GCC>GAC p.A1360D TRIOBP_uc003atu.2_Missense_Mutation_p.A1188D NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1360 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ATGCTCCCTGCCAAACAGGCA 0.637 26 37 --- --- --- --- PASS MICALL1 85377 broad.mit.edu 37 22 38320668 38320668 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:38320668G>A uc003aui.2 + 7 1110 c.1026G>A c.(1024-1026)GGG>GGA p.G342G NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN molecule interacting with Rab13 342 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1) 1 Melanoma(58;0.045) CCCATCTAGGGAGACTGCACG 0.662 55 76 --- --- --- --- PASS ACO2 50 broad.mit.edu 37 22 41911921 41911921 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:41911921G>T uc003bac.2 + 6 857 c.835G>T c.(835-837)GGC>TGC p.G279C ACO2_uc003bad.2_Missense_Mutation_p.G279C NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 279 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CTCCTGCACTGGTGAGGAAGG 0.587 13 20 --- --- --- --- PASS TRMU 55687 broad.mit.edu 37 22 46749686 46749686 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:46749686C>A uc003bhp.2 + 8 1159 c.795C>A c.(793-795)GGC>GGA p.G265G TRMU_uc011arb.1_Silent_p.G265G|TRMU_uc003bhq.2_Silent_p.G47G|TRMU_uc003bhs.2_Silent_p.G265G|TRMU_uc003bhr.2_Silent_p.G151G|TRMU_uc003bht.2_Silent_p.G118G|TRMU_uc003bhu.2_Silent_p.G47G|TRMU_uc003bhv.2_Silent_p.G118G NM_018006 NP_060476 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate 265 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding ovary(1) 1 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) ATACCTTGGGCCAGAGAGCAA 0.547 53 99 --- --- --- --- PASS GRAMD4 23151 broad.mit.edu 37 22 47069575 47069575 + Silent SNP G C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:47069575G>C uc003bhx.2 + 14 1287 c.1248G>C c.(1246-1248)ACG>ACC p.T416T GRAMD4_uc010had.2_Silent_p.T355T|GRAMD4_uc003bhy.2_5'Flank NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN death-inducing-protein 416 apoptosis integral to membrane|mitochondrial membrane ovary(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AGCTGCAGACGACCTCGTCAC 0.647 52 94 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51117847 51117847 + Silent SNP C G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:51117847C>G uc003bne.1 + 7 876 c.876C>G c.(874-876)CTC>CTG p.L292L NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 292 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TCTGTGCCCTCTACAACCAGG 0.597 15 34 --- --- --- --- PASS DHRSX 207063 broad.mit.edu 37 X 2184966 2184966 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:2184966C>A uc004cqf.3 - 5 460 c.411G>T c.(409-411)CAG>CAT p.Q137H NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 137 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) TGGTTTTCCTCTGAGGGACCA 0.493 129 92 --- --- --- --- PASS ARSD 414 broad.mit.edu 37 X 2828760 2828760 + Missense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:2828760C>T uc004cqy.2 - 7 1151 c.1075G>A c.(1075-1077)GGA>AGA p.G359R ARSD_uc004cqz.1_Intron NM_001669 NP_001660 P51689 ARSD_HUMAN arylsulfatase D isoform a precursor 359 lysosome arylsulfatase activity|metal ion binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTAAATGTCCTCCATGGTCA 0.433 108 36 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3261854 3261854 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:3261854C>A uc004crg.3 - 2 178 c.21G>T c.(19-21)TGG>TGT p.W7C NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 7 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AGAGGGCCCCCCAGTGCGCGC 0.622 18 4 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7268228 7268228 + Nonsense_Mutation SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:7268228C>T uc004cry.3 + 10 1923 c.1678C>T c.(1678-1680)CAG>TAG p.Q560* NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 560 Lumenal. Q -> P (in IXL). female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GCCCTGGCTTCAGCTGTGCTG 0.557 Ichthyosis 30 5 --- --- --- --- PASS CXorf23 256643 broad.mit.edu 37 X 19983480 19983480 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:19983480T>C uc004czp.2 - 3 956 c.956A>G c.(955-957)AAT>AGT p.N319S CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_5'UTR|CXorf23_uc004czo.2_Missense_Mutation_p.N269S NM_198279 NP_938020 A2AJT9 CX023_HUMAN hypothetical protein LOC256643 319 mitochondrion lung(1)|skin(1) 2 TAACTCTCTATTTAGAGGGCC 0.398 78 12 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24859851 24859851 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:24859851C>T uc004dbl.2 + 33 3824 c.3801C>T c.(3799-3801)CTC>CTT p.L1267L NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 1267 Potential. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) CAGCACAGCTCACTGATGAAG 0.383 40 14 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30849553 30849553 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:30849553C>T uc004dcj.2 - 11 2793 c.2130G>A c.(2128-2130)CGG>CGA p.R710R TAB3_uc004dck.2_Silent_p.R710R|TAB3_uc010ngl.2_Silent_p.R682R NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 710 RanBP2-type. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 TTCAGGTGTACCGTGGCATCT 0.493 22 5 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32509416 32509416 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:32509416T>C uc004dda.1 - 20 2844 c.2600A>G c.(2599-2601)AAA>AGA p.K867R DMD_uc004dcz.2_Missense_Mutation_p.K744R|DMD_uc004dcy.1_Missense_Mutation_p.K863R|DMD_uc004ddb.1_Missense_Mutation_p.K859R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 867 Spectrin 5. 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) TAACTGACTTTTAATTGCTGT 0.373 67 13 --- --- --- --- PASS MAGEB16 139604 broad.mit.edu 37 X 35820581 35820581 + Missense_Mutation SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:35820581C>A uc010ngt.1 + 2 547 c.268C>A c.(268-270)CAA>AAA p.Q90K NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 90 lung(3)|ovary(2)|breast(1)|skin(1) 7 TTCCAGCAATCAAGAAGAGGA 0.488 11 2 --- --- --- --- PASS GATA1 2623 broad.mit.edu 37 X 48652347 48652347 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:48652347G>A uc004dkq.3 + 6 1109 c.1018G>A c.(1018-1020)GGC>AGC p.G340S NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 340 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 GGTGGCTGGGGGCAGCGGTAG 0.632 Mis|F megakaryoblastic leukemia of Downs Syndrome 5 2 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50165518 50165518 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:50165518G>T uc010njr.1 - 3 823 c.763C>A c.(763-765)CAC>AAC p.H255N NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 255 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) GTTTCAAAGTGTGCAAACTGG 0.358 37 17 --- --- --- --- PASS PHF8 23133 broad.mit.edu 37 X 54012307 54012307 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:54012307T>C uc004dsu.2 - 17 2252 c.2179A>G c.(2179-2181)ATT>GTT p.I727V PHF8_uc004dst.2_Missense_Mutation_p.I691V|PHF8_uc004dsv.2_Missense_Mutation_p.I557V|PHF8_uc004dsw.2_Missense_Mutation_p.I590V|PHF8_uc004dsx.2_Missense_Mutation_p.I455V|PHF8_uc004dsy.2_Intron NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 727 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 AGATCAAGAATGCCACCAGCG 0.537 48 21 --- --- --- --- PASS PFKFB1 5207 broad.mit.edu 37 X 54986326 54986326 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:54986326C>T uc004dty.1 - 4 389 c.318G>A c.(316-318)AAG>AAA p.K106K PFKFB1_uc010nkd.1_Silent_p.K92K|PFKFB1_uc011mol.1_Silent_p.K41K NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 106 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 GGGCGCACTGCCTGAAATAGA 0.443 25 5 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65393453 65393453 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:65393453C>T uc011moz.1 + 4 504 c.444C>T c.(442-444)TCC>TCT p.S148S HEPH_uc004dwn.2_Silent_p.S148S|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Silent_p.S148S|HEPH_uc011mpa.1_Silent_p.S148S NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 145 Extracellular (Potential).|Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CAGATGGCTCCTCTGGGCCAC 0.517 22 5 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65409665 65409665 + Silent SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:65409665T>A uc011moz.1 + 6 1017 c.957T>A c.(955-957)CGT>CGA p.R319R HEPH_uc004dwn.2_Silent_p.R319R|HEPH_uc004dwo.2_Silent_p.R49R|HEPH_uc010nkr.2_Silent_p.R319R|HEPH_uc011mpa.1_Silent_p.R319R NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 316 Extracellular (Potential).|Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 TGACTACCCGTGGACACCACA 0.502 14 4 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65476032 65476032 + Missense_Mutation SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:65476032G>A uc011moz.1 + 17 2825 c.2765G>A c.(2764-2766)CGG>CAG p.R922Q HEPH_uc004dwn.2_Missense_Mutation_p.R922Q|HEPH_uc004dwo.2_Missense_Mutation_p.R652Q|HEPH_uc010nkr.2_Missense_Mutation_p.R730Q|HEPH_uc011mpa.1_Missense_Mutation_p.R922Q|HEPH_uc010nks.2_Missense_Mutation_p.R211Q NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 919 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 GACATGGATCGGGAATTTGCA 0.498 47 13 --- --- --- --- PASS IL2RG 3561 broad.mit.edu 37 X 70330030 70330030 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:70330030C>A uc004dyw.1 - 4 584 c.570G>T c.(568-570)CGG>CGT p.R190R IL2RG_uc004dyv.1_5'Flank|IL2RG_uc004dyx.1_Intron NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 190 Extracellular (Potential).|Fibronectin type-III. immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) CCCAGTCAGTCCGGTACTGCA 0.478 Severe_Combined_Immunodeficiency_X-linked 65 15 --- --- --- --- PASS TGIF2LX 90316 broad.mit.edu 37 X 89177433 89177433 + Nonsense_Mutation SNP A T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:89177433A>T uc004efe.2 + 2 398 c.349A>T c.(349-351)AGA>TGA p.R117* NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 117 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 TCAACAGCGTAGAAACGACCC 0.532 47 11 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91133246 91133246 + Silent SNP C T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:91133246C>T uc004efk.1 + 2 2852 c.2007C>T c.(2005-2007)AAC>AAT p.N669N PCDH11X_uc004efl.1_Silent_p.N669N|PCDH11X_uc004efo.1_Silent_p.N669N|PCDH11X_uc010nmv.1_Silent_p.N669N|PCDH11X_uc004efm.1_Silent_p.N669N|PCDH11X_uc004efn.1_Silent_p.N669N|PCDH11X_uc004efh.1_Silent_p.N669N|PCDH11X_uc004efj.1_Silent_p.N669N NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 669 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TCAATGACAACAAACCAGTTT 0.408 71 19 --- --- --- --- PASS DRP2 1821 broad.mit.edu 37 X 100497460 100497460 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:100497460G>A uc004egz.2 + 8 1344 c.975G>A c.(973-975)CAG>CAA p.Q325Q DRP2_uc011mrh.1_Silent_p.Q247Q NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 325 Spectrin 2. central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 AACAACTACAGGTAGAAGAGC 0.498 67 25 --- --- --- --- PASS ARMCX2 9823 broad.mit.edu 37 X 100911581 100911581 + Missense_Mutation SNP G T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:100911581G>T uc004eid.2 - 3 1349 c.994C>A c.(994-996)CTG>ATG p.L332M ARMCX2_uc004eie.3_Missense_Mutation_p.L332M|ARMCX2_uc004eif.3_Missense_Mutation_p.L332M|ARMCX2_uc004eig.3_Missense_Mutation_p.L332M|ARMCX2_uc010nnt.2_Missense_Mutation_p.L332M NM_177949 NP_808818 Q7L311 ARMX2_HUMAN ALEX2 protein 332 integral to membrane binding ovary(6) 6 ACCTCTGCCAGGAAAGCCTGT 0.592 53 12 --- --- --- --- PASS RNF128 79589 broad.mit.edu 37 X 106031167 106031167 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:106031167A>G uc004eml.2 + 4 1074 c.824A>G c.(823-825)GAT>GGT p.D275G RNF128_uc004emk.2_Missense_Mutation_p.D249G NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 275 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTGATGGAGATAGTTGTGCT 0.323 36 12 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111078268 111078268 + Nonsense_Mutation SNP T A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:111078268T>A uc004epl.1 - 7 2696 c.1777A>T c.(1777-1779)AGA>TGA p.R593* TRPC5_uc004epm.1_Nonsense_Mutation_p.R593* NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 593 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AATTCGTGTCTGGCTTTCACA 0.418 244 51 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111078269 111078269 + Silent SNP G A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:111078269G>A uc004epl.1 - 7 2695 c.1776C>T c.(1774-1776)GCC>GCT p.A592A TRPC5_uc004epm.1_Silent_p.A592A NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 592 Extracellular (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 ATTCGTGTCTGGCTTTCACAT 0.418 241 50 --- --- --- --- PASS STAG2 10735 broad.mit.edu 37 X 123205135 123205135 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:123205135A>G uc004etz.3 + 24 2834 c.2495A>G c.(2494-2496)CAT>CGT p.H832R STAG2_uc004eua.2_Missense_Mutation_p.H832R|STAG2_uc004eub.2_Missense_Mutation_p.H832R|STAG2_uc004euc.2_Missense_Mutation_p.H832R|STAG2_uc004eud.2_Missense_Mutation_p.H832R|STAG2_uc004eue.2_Missense_Mutation_p.H832R NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 832 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 ATTTTGGATCATGTCTTCATT 0.363 92 26 --- --- --- --- PASS XPNPEP2 7512 broad.mit.edu 37 X 128879190 128879190 + Silent SNP C A A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:128879190C>A uc004eut.1 + 4 490 c.246C>A c.(244-246)ATC>ATA p.I82I XPNPEP2_uc011mum.1_Silent_p.I82I NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 82 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 ACGAGTACATCGGCCAACATG 0.488 35 12 --- --- --- --- PASS FRMD7 90167 broad.mit.edu 37 X 131218580 131218580 + Missense_Mutation SNP T C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:131218580T>C uc004ewn.2 - 8 857 c.679A>G c.(679-681)AAA>GAA p.K227E FRMD7_uc011muy.1_Missense_Mutation_p.K212E NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 227 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTGCGGATTTTAGCCCAGTTA 0.333 70 21 --- --- --- --- PASS FMR1NB 158521 broad.mit.edu 37 X 147063148 147063148 + Missense_Mutation SNP A G G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:147063148A>G uc004fcm.2 + 1 300 c.226A>G c.(226-228)ATT>GTT p.I76V NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 76 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CATGCTCTCCATTTGGATCCT 0.532 98 24 --- --- --- --- PASS NEGR1 257194 broad.mit.edu 37 1 71873131 71873132 + Frame_Shift_Ins INS - T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr1:71873131_71873132insT uc001dfw.2 - 7 1162_1163 c.1062_1063insA c.(1060-1065)CAATAAfs p.Q354fs NEGR1_uc001dfv.2_Frame_Shift_Ins_p.Q226fs|NEGR1_uc010oqs.1_Frame_Shift_Ins_p.Q310fs NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 354_355 cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CTTTGAATTTATTGTAGAATGG 0.421 13 25 --- --- --- --- SUMO1 7341 broad.mit.edu 37 2 203084829 203084829 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr2:203084829delC uc002uyz.1 - 2 161 c.13delG c.(13-15)GAGfs p.E5fs SUMO1_uc002uza.1_Intron NM_001005781 NP_001005781 P63165 SUMO1_HUMAN SMT3 suppressor of mif two 3 homolog 1 isoform a 5 DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization cytoplasm|nuclear membrane|nuclear pore|nuclear speck ubiquitin protein ligase binding 0 GGTTTTGCCTCCTGAAAGAAA 0.338 127 130 --- --- --- --- CTNND2 1501 broad.mit.edu 37 5 11364830 11364831 + Frame_Shift_Del DEL GG - - rs138883759 by1000genomes TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr5:11364830_11364831delGG uc003jfa.1 - 8 1494_1495 c.1349_1350delCC c.(1348-1350)ACCfs p.T450fs CTNND2_uc010itt.2_Frame_Shift_Del_p.T359fs|CTNND2_uc011cmy.1_Frame_Shift_Del_p.T113fs|CTNND2_uc011cmz.1_Frame_Shift_Del_p.T17fs|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Frame_Shift_Del_p.T17fs NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 450 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GGTAGGTGCCGGTGTGTGCTGG 0.604 23 12 --- --- --- --- POM121L12 285877 broad.mit.edu 37 7 53103652 53103653 + Frame_Shift_Ins INS - T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr7:53103652_53103653insT uc003tpz.2 + 1 304_305 c.288_289insT c.(286-291)GGCTGGfs p.G96fs NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 96_97 0 TCTCCGAGGGCTGGAGGCGCCC 0.708 15 54 --- --- --- --- PARD3 56288 broad.mit.edu 37 10 34666941 34666942 + Frame_Shift_Ins INS - C C TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr10:34666941_34666942insC uc010qej.1 - 10 1492_1493 c.1492_1493insG c.(1492-1494)GCGfs p.A498fs PARD3_uc010qek.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qel.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qem.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qen.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qeo.1_Frame_Shift_Ins_p.A498fs|PARD3_uc010qep.1_Frame_Shift_Ins_p.A454fs|PARD3_uc010qeq.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixo.1_Frame_Shift_Ins_p.A228fs|PARD3_uc001ixp.1_Frame_Shift_Ins_p.A363fs|PARD3_uc001ixq.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixr.1_Frame_Shift_Ins_p.A498fs|PARD3_uc001ixt.1_Frame_Shift_Ins_p.A319fs|PARD3_uc001ixu.1_Frame_Shift_Ins_p.A454fs|PARD3_uc001ixs.1_Frame_Shift_Ins_p.A151fs NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 498 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTGAATGGCCGCCCCCCGGGGG 0.480 70 134 --- --- --- --- OR5B3 441608 broad.mit.edu 37 11 58170130 58170130 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:58170130delC uc010rkf.1 - 1 753 c.753delG c.(751-753)GGGfs p.G251fs NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) AGATAATAGTCCCATAGAAGA 0.448 93 47 --- --- --- --- PICALM 8301 broad.mit.edu 37 11 85692259 85692259 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr11:85692259delC uc001pbm.2 - 17 1978 c.1692delG c.(1690-1692)TGGfs p.W564fs PICALM_uc001pbl.2_Frame_Shift_Del_p.W514fs|PICALM_uc001pbn.2_Frame_Shift_Del_p.W557fs|PICALM_uc010rtl.1_Frame_Shift_Del_p.W463fs|PICALM_uc001pbk.2_RNA|PICALM_uc010rtk.1_Frame_Shift_Del_p.W141fs|PICALM_uc001pbo.1_Frame_Shift_Del_p.W196fs NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 564 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) CTGGTTGACTCCAATTTACAT 0.343 T MLLT10|MLL TALL|AML| 40 27 --- --- --- --- OR4K17 390436 broad.mit.edu 37 14 20585592 20585592 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr14:20585592delC uc001vwo.1 + 1 27 c.27delC c.(25-27)CTCfs p.L9fs NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, Error:Variant_position_missing_in_Q8NGC6_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CACTCATACTCCATGGTATGA 0.363 52 45 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 62945428 62945428 + Frame_Shift_Del DEL G - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:62945428delG uc002alb.3 + 4 432 c.432delG c.(430-432)ACGfs p.T144fs NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 144 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AGGAAGGAACGGGCACACTCA 0.363 23 18 --- --- --- --- SIN3A 25942 broad.mit.edu 37 15 75704038 75704038 + Frame_Shift_Del DEL G - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr15:75704038delG uc002bai.2 - 6 1062 c.803delC c.(802-804)CCAfs p.P268fs SIN3A_uc002baj.2_Frame_Shift_Del_p.P268fs|SIN3A_uc010uml.1_Frame_Shift_Del_p.P268fs NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 268 Interaction with REST (By similarity). blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 CGGTGGAAGTGGGGGAGTCTG 0.512 209 124 --- --- --- --- TMEM38A 79041 broad.mit.edu 37 19 16799109 16799117 + In_Frame_Del DEL CGGCCATGC - - rs147713228 TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:16799109_16799117delCGGCCATGC uc002nes.2 + 6 918_926 c.827_835delCGGCCATGC c.(826-837)TCGGCCATGCCC>TCC p.AMP277del NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 277_279 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 GCTCAGCATTCGGCCATGCCCGCCAAGTC 0.651 81 63 --- --- --- --- LILRA4 23547 broad.mit.edu 37 19 54849937 54849938 + Frame_Shift_Ins INS - T T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr19:54849937_54849938insT uc002qfj.2 - 3 141_142 c.84_85insA c.(82-87)AAACCCfs p.K28fs LILRA4_uc002qfi.2_5'UTR NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 28_29 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CACAGGATGGGTTTGGGTAGGT 0.589 OREG0003656 type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 70 34 --- --- --- --- TTC3 7267 broad.mit.edu 37 21 38519833 38519833 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr21:38519833delC uc002yvz.2 + 22 2051 c.1946delC c.(1945-1947)GCCfs p.A649fs TTC3_uc011aee.1_Frame_Shift_Del_p.A339fs|TTC3_uc002ywa.2_Frame_Shift_Del_p.A649fs|TTC3_uc002ywb.2_Frame_Shift_Del_p.A649fs|TTC3_uc010gnf.2_Frame_Shift_Del_p.A414fs|TTC3_uc002ywc.2_Frame_Shift_Del_p.A339fs|TTC3_uc011aed.1_Frame_Shift_Del_p.A339fs NM_001001894 NP_001001894 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 649 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(3)|ovary(2)|lung(2)|breast(2) 9 Myeloproliferative disorder(46;0.0412) GTGCCAGATGCCATTTGTTGC 0.343 77 56 --- --- --- --- PLA2G3 50487 broad.mit.edu 37 22 31536282 31536282 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chr22:31536282delC uc003aka.2 - 1 188 c.59delG c.(58-60)GGCfs p.G20fs NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 20 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 GGCAGGGGAGCCCCCCAGGGC 0.657 60 39 --- --- --- --- DACH2 117154 broad.mit.edu 37 X 85769298 85769298 + Frame_Shift_Del DEL C - - TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx c9862ed2-4ba6-434d-a205-b1bda292d218 84be8437-4a30-4730-af92-4ba428be4dc1 g.chrX:85769298delC uc004eew.2 + 3 714 c.544delC c.(544-546)CCCfs p.P182fs DACH2_uc004eex.2_Frame_Shift_Del_p.P169fs|DACH2_uc010nmq.2_Frame_Shift_Del_p.P48fs|DACH2_uc011mra.1_Frame_Shift_Del_p.P15fs|DACH2_uc010nmr.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 ACCCGGCAGGCCCCCTAAGCG 0.438 9 16 --- --- --- ---