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 PRAMEF10 343071 broad.mit.edu 37 1 12955444 12955444 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:12955444G>T uc001auo.2 - 2 308 c.235C>A c.(235-237)CAA>AAA p.Q79K NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 79 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGGACAGCTTGCAAGGTCTCC 0.592 16 29 --- --- --- --- PASS ALDH4A1 8659 broad.mit.edu 37 1 19203974 19203974 + Missense_Mutation SNP T C C rs145243354 byFrequency TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:19203974T>C uc001bbb.2 - 10 1349 c.1073A>G c.(1072-1074)CAC>CGC p.H358R ALDH4A1_uc010ocu.1_Missense_Mutation_p.H298R|ALDH4A1_uc001bbc.2_Missense_Mutation_p.H358R NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 358 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CCACAGCGAGTGCGGCACGTA 0.692 8 9 --- --- --- --- PASS HSPG2 3339 broad.mit.edu 37 1 22206613 22206613 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:22206613T>C uc001bfj.2 - 17 2370 c.2330A>G c.(2329-2331)TAT>TGT p.Y777C HSPG2_uc009vqd.2_Missense_Mutation_p.Y778C NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 777 Laminin EGF-like 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCAGTGGCCATACACAGGGTC 0.498 14 20 --- --- --- --- PASS C1orf38 9473 broad.mit.edu 37 1 28209122 28209122 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:28209122T>C uc001bpc.3 + 4 1315 c.1287T>C c.(1285-1287)AGT>AGC p.S429S C1orf38_uc001boz.2_Intron|C1orf38_uc001bpa.2_Intron|C1orf38_uc010ofn.1_Silent_p.S233S|C1orf38_uc010ofo.1_Silent_p.S300S NM_001105556 NP_001099026 Q5TEJ8 THMS2_HUMAN basement membrane-induced gene isoform 3 429 CABIT 2. cell adhesion|inflammatory response ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) TCCCTGGCAGTTTCGTGGAGG 0.607 22 22 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34191058 34191058 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:34191058G>T uc001bxn.1 - 17 2496 c.2467C>A c.(2467-2469)CAC>AAC p.H823N CSMD2_uc001bxm.1_Missense_Mutation_p.H863N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 823 CUB 5.|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) TGGGTCCCGTGGTAAACCCCG 0.542 15 21 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39783071 39783071 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:39783071C>T uc010ois.1 + 30 3994 c.3789C>T c.(3787-3789)CTC>CTT p.L1263L MACF1_uc001cda.1_Silent_p.L1171L|MACF1_uc001cdc.1_Silent_p.L350L|MACF1_uc009vvq.1_Silent_p.L320L|MACF1_uc001cdb.1_Silent_p.L350L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1263 LRR 8. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGCCCAGCTCGAGATTCGGT 0.468 6 36 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44437888 44437888 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:44437888C>T uc001ckz.2 + 5 1422 c.1227C>T c.(1225-1227)GAC>GAT p.D409D DPH2_uc001cla.2_Silent_p.D181D|DPH2_uc010okk.1_Silent_p.D274D|DPH2_uc001clb.2_Silent_p.D333D|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank|ATP6V0B_uc001clf.2_5'Flank NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 409 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) AAACCCCAGACGTGTCACTCA 0.577 10 63 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52705178 52705178 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:52705178G>A uc001cto.2 + 4 2261 c.2089G>A c.(2089-2091)GTA>ATA p.V697I ZFYVE9_uc001ctn.2_Missense_Mutation_p.V697I|ZFYVE9_uc001ctp.2_Missense_Mutation_p.V697I NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 697 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TCCAGTATGGGTACCGGATTC 0.478 29 27 --- --- --- --- PASS DIRAS3 9077 broad.mit.edu 37 1 68512774 68512774 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:68512774G>A uc001ded.2 - 2 502 c.207C>T c.(205-207)ACC>ACT p.T69T uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 69 Effector region (Potential). regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 TATTTTCAATGGTCGGCAGGT 0.602 16 99 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70587560 70587560 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:70587560T>C uc001dep.2 + 25 4634 c.4604T>C c.(4603-4605)CTT>CCT p.L1535P LRRC7_uc009wbg.2_Missense_Mutation_p.L819P|LRRC7_uc001deq.2_Missense_Mutation_p.L729P NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1535 PDZ. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CAACGTGAGCTTACTGTCTAA 0.328 24 38 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75038743 75038743 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:75038743G>A uc001dgg.2 - 14 2870 c.2651C>T c.(2650-2652)ACA>ATA p.T884I NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 884 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTCAAGCACTGTGAGCATCAA 0.512 92 154 --- --- --- --- PASS GBP2 2634 broad.mit.edu 37 1 89578310 89578310 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:89578310C>G uc001dmz.1 - 8 1478 c.1207G>C c.(1207-1209)GAT>CAT p.D403H GBP2_uc001dmy.1_RNA NM_004120 NP_004111 P32456 GBP2_HUMAN guanylate binding protein 2, 403 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1) 1 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) ATGCAACAATCTGATGATGCT 0.423 45 74 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103548491 103548491 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:103548491G>T uc001dul.2 - 2 462 c.144C>A c.(142-144)CAC>CAA p.H48Q COL11A1_uc001dum.2_Missense_Mutation_p.H48Q|COL11A1_uc001dun.2_Missense_Mutation_p.H48Q|COL11A1_uc009weh.2_Missense_Mutation_p.H48Q NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 48 TSP N-terminal. 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) CTGGAGAATTGTGAAAATCTA 0.348 22 49 --- --- --- --- PASS NBPF7 343505 broad.mit.edu 37 1 120384085 120384085 + Silent SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:120384085G>C uc010oxk.1 - 3 1098 c.477C>G c.(475-477)TCC>TCG p.S159S NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 159 cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CCTGCCCCTGGGAGTTGTCAT 0.577 36 79 --- --- --- --- PASS FDPS 2224 broad.mit.edu 37 1 155288667 155288667 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:155288667A>T uc001fkc.2 + 8 1013 c.794A>T c.(793-795)TAC>TTC p.Y265F RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.Y199F|FDPS_uc001fke.2_Missense_Mutation_p.Y265F|FDPS_uc001fkf.2_Missense_Mutation_p.Y199F|C1orf104_uc001fkh.1_Intron|RUSC1_uc001fkj.2_5'Flank|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc009wqn.1_5'Flank NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 265 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) ATTGTCAAGTACAAGACAGCT 0.522 48 122 --- --- --- --- PASS ARHGEF11 9826 broad.mit.edu 37 1 156917607 156917607 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:156917607C>A uc001fqo.2 - 24 3215 c.2175G>T c.(2173-2175)GTG>GTT p.V725V ARHGEF11_uc010phu.1_Silent_p.V141V|ARHGEF11_uc001fqn.2_Silent_p.V765V NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 725 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TTAGCCCAGCCACCACATCCT 0.592 3 36 --- --- --- --- PASS FCRL5 83416 broad.mit.edu 37 1 157514128 157514128 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:157514128C>A uc001fqu.2 - 5 926 c.768G>T c.(766-768)GGG>GGT p.G256G FCRL5_uc009wsm.2_Silent_p.G256G|FCRL5_uc010phv.1_Silent_p.G256G|FCRL5_uc010phw.1_Silent_p.G171G|FCRL5_uc001fqv.1_Silent_p.G256G|FCRL5_uc010phx.1_Silent_p.G7G NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 256 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACCAGTAGAACCCTGAATCTT 0.512 71 157 --- --- --- --- PASS CD1E 913 broad.mit.edu 37 1 158325720 158325720 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:158325720G>A uc001fse.2 + 4 968 c.729G>A c.(727-729)ATG>ATA p.M243I CD1E_uc010pid.1_Missense_Mutation_p.M241I|CD1E_uc010pie.1_Missense_Mutation_p.M144I|CD1E_uc010pif.1_Missense_Mutation_p.M54I|CD1E_uc001fsd.2_Missense_Mutation_p.M243I|CD1E_uc001fsk.2_Missense_Mutation_p.M153I|CD1E_uc001fsj.2_Missense_Mutation_p.M153I|CD1E_uc001fsc.2_Missense_Mutation_p.M54I|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.M54I|CD1E_uc001fsf.2_Missense_Mutation_p.M243I|CD1E_uc001fry.2_Missense_Mutation_p.M243I|CD1E_uc001fsg.2_Missense_Mutation_p.M54I|CD1E_uc001fsh.2_Missense_Mutation_p.M54I|CD1E_uc001fsi.2_Missense_Mutation_p.M243I|CD1E_uc009wsv.2_Missense_Mutation_p.M144I|CD1E_uc001frz.2_Missense_Mutation_p.M153I|CD1E_uc009wsw.2_Missense_Mutation_p.M1I NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 243 Ig-like. antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) TGTGGGTGATGTGGATGCGGG 0.637 40 49 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159902338 159902338 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:159902338G>A uc001fur.2 - 10 1407 c.1209C>T c.(1207-1209)ACC>ACT p.T403T IGSF9_uc001fuq.2_Silent_p.T387T|IGSF9_uc001fup.2_5'Flank NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 403 Ig-like 4.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGGCCCGGCGGTACCAAGAC 0.642 22 49 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160786504 160786504 + Missense_Mutation SNP C A A rs150208343 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:160786504C>A uc001fwu.2 + 5 1243 c.1193C>A c.(1192-1194)CCG>CAG p.P398Q LY9_uc001fwv.2_Missense_Mutation_p.P398Q|LY9_uc001fww.2_Intron|LY9_uc001fwx.2_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.2_Missense_Mutation_p.P50Q NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 398 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACATGGACCCCGCTGCAGAAG 0.557 21 35 --- --- --- --- PASS BAT2L2 23215 broad.mit.edu 37 1 171509443 171509443 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:171509443A>G uc010pmg.1 + 16 3098 c.2832A>G c.(2830-2832)GCA>GCG p.A944A BAT2L2_uc010pmh.1_5'UTR NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 944 protein C-terminus binding 0 AACCATCTGCAGGCATTCCTA 0.433 5 23 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174340115 174340115 + Splice_Site SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:174340115A>G uc001gjx.2 + 12 1661 c.1466_splice c.e12-2 p.E489_splice RABGAP1L_uc009wwq.1_Splice_Site_p.E501_splice|RABGAP1L_uc001gjw.2_Splice_Site_p.E452_splice|RABGAP1L_uc001gjy.2_Splice_Site_p.E157_splice|RABGAP1L_uc001gjz.2_Splice_Site_p.E136_splice NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 TTTCTTCTGCAGAGAGTGATA 0.348 21 54 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176769233 176769233 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:176769233G>T uc001gkz.2 + 21 6331 c.5167G>T c.(5167-5169)GAC>TAC p.D1723Y PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1723 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 ATGGCACCCAGACCCCGTCTT 0.483 29 104 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176915118 176915118 + Silent SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:176915118A>T uc001glc.2 - 13 2405 c.2193T>A c.(2191-2193)GGT>GGA p.G731G ASTN1_uc001glb.1_Silent_p.G731G|ASTN1_uc001gld.1_Silent_p.G731G|ASTN1_uc009wwx.1_Silent_p.G731G NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 739 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GGTTGTTGTAACCAAAGAACA 0.493 34 138 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183101650 183101650 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:183101650G>A uc001gpy.3 + 21 3939 c.3682G>A c.(3682-3684)GAG>AAG p.E1228K NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1228 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACAGCATTTGAGATTGAAGA 0.398 39 62 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 185970840 185970840 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:185970840A>T uc001grq.1 + 28 4544 c.4315A>T c.(4315-4317)ACT>TCT p.T1439S NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1439 Ig-like C2-type 11. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TATTGCAGGCACTTCTCAGAA 0.373 37 62 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201193908 201193908 + Silent SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:201193908T>A uc001gwc.2 + 10 2644 c.1872T>A c.(1870-1872)CCT>CCA p.P624P IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 TTCTGATCCCTGTGGCTGGAC 0.587 3 44 --- --- --- --- PASS MYOG 4656 broad.mit.edu 37 1 203054889 203054889 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:203054889C>T uc001gzd.2 - 1 489 c.201G>A c.(199-201)CCG>CCA p.P67P NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 67 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 TACACGCCCACGGCAGGCACT 0.682 53 66 --- --- --- --- PASS ADORA1 134 broad.mit.edu 37 1 203134990 203134990 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:203134990A>G uc001gze.1 + 4 1376 c.943A>G c.(943-945)ATT>GTT p.I315V FMOD_uc010pqi.1_Intron|ADORA1_uc001gzf.1_Missense_Mutation_p.I315V|ADORA1_uc010pqg.1_Missense_Mutation_p.I247V|ADORA1_uc009xak.1_3'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.I348V NM_000674 NP_000665 P30542 AA1R_HUMAN adenosine A1 receptor 315 Cytoplasmic (Potential). induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane large_intestine(1) 1 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) TGCACCTCCCATTGACGAGGA 0.577 25 56 --- --- --- --- PASS PRELP 5549 broad.mit.edu 37 1 203452423 203452423 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:203452423G>T uc001gzs.2 + 2 311 c.111G>T c.(109-111)AGG>AGT p.R37S PRELP_uc001gzt.2_Missense_Mutation_p.R37S NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 37 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) GCAGACCCAGGCCCAGGCCCA 0.657 32 48 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235972254 235972254 + Nonsense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:235972254G>A uc001hxj.2 - 5 2039 c.1864C>T c.(1864-1866)CAG>TAG p.Q622* LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.Q622* NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 622 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CCTCCTAACTGATCCAAAATA 0.348 Chediak-Higashi_syndrome 33 98 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235972330 235972330 + Silent SNP G C C rs148614675 by1000genomes TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:235972330G>C uc001hxj.2 - 5 1963 c.1788C>G c.(1786-1788)CTC>CTG p.L596L LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Silent_p.L596L NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 596 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TAAAAGCATGGAGCAAAGGAA 0.388 Chediak-Higashi_syndrome 43 123 --- --- --- --- PASS NID1 4811 broad.mit.edu 37 1 236189398 236189398 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:236189398G>A uc001hxo.2 - 8 1884 c.1782C>T c.(1780-1782)CCC>CCT p.P594P NID1_uc009xgd.2_Silent_p.P594P NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 594 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CATCTCGCTCGGGCTCAGTCA 0.597 20 58 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240976970 240976970 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr1:240976970G>T uc001hyv.2 - 13 1234 c.904C>A c.(904-906)CCT>ACT p.P302T RGS7_uc010pyh.1_Missense_Mutation_p.P276T|RGS7_uc010pyj.1_Missense_Mutation_p.P218T|RGS7_uc001hyu.2_Missense_Mutation_p.P302T|RGS7_uc009xgn.1_Missense_Mutation_p.P249T|RGS7_uc001hyw.2_Missense_Mutation_p.P302T|RGS7_uc001hyt.2_Missense_Mutation_p.P134T NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 302 G protein gamma. 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) GGGTTAGAAGGGTCAGGTGGC 0.423 13 42 --- --- --- --- PASS POMC 5443 broad.mit.edu 37 2 25387637 25387637 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:25387637G>T uc002rfy.1 - 3 268 c.5C>A c.(4-6)CCG>CAG p.P2Q POMC_uc002rfz.1_Missense_Mutation_p.P2Q|POMC_uc002rga.1_Missense_Mutation_p.P2Q NM_001035256 NP_001030333 P01189 COLI_HUMAN proopiomelanocortin preproprotein 2 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) GCACGATCTCGGCATCTTCCA 0.607 19 40 --- --- --- --- PASS KCNK3 3777 broad.mit.edu 37 2 26951214 26951214 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:26951214G>A uc002rhn.2 + 2 1126 c.963G>A c.(961-963)CTG>CTA p.L321L NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 321 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGAGAAGCTGCAGTACTCCA 0.687 3 19 --- --- --- --- PASS ZNF512 84450 broad.mit.edu 37 2 27823603 27823603 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:27823603G>T uc002rla.2 + 6 590 c.503G>T c.(502-504)AGT>ATT p.S168I ZNF512_uc010ylv.1_Missense_Mutation_p.S89I|ZNF512_uc010ylw.1_Missense_Mutation_p.S139I|ZNF512_uc002rlb.2_Missense_Mutation_p.S89I|ZNF512_uc010ylx.1_Missense_Mutation_p.S89I|ZNF512_uc002rlc.2_Missense_Mutation_p.S89I|ZNF512_uc010yly.1_Intron|ZNF512_uc010ylz.1_Missense_Mutation_p.S61I NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GATAAAGGCAGTGTCTCCTGC 0.433 32 72 --- --- --- --- PASS PPM1B 5495 broad.mit.edu 37 2 44428810 44428810 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:44428810A>G uc002rtt.2 + 2 900 c.472A>G c.(472-474)AGG>GGG p.R158G PPM1B_uc002rts.2_Missense_Mutation_p.R158G|PPM1B_uc002rtu.2_Missense_Mutation_p.R158G|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.R158G|PPM1B_uc002rtx.2_Missense_Mutation_p.R158G NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 158 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGTTCTGTATAGGAATGGACA 0.453 35 101 --- --- --- --- PASS FOXN2 3344 broad.mit.edu 37 2 48602067 48602067 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:48602067C>T uc002rwh.1 + 7 1096 c.781C>T c.(781-783)CCT>TCT p.P261S NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 261 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AGGTGAGAAGCCTCTTCCTCT 0.378 16 38 --- --- --- --- PASS C2orf86 51057 broad.mit.edu 37 2 63631438 63631438 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:63631438C>A uc002sch.2 - 10 1626 c.1180G>T c.(1180-1182)GTT>TTT p.V394F C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.V235F|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.V202F|C2orf86_uc002sci.1_Missense_Mutation_p.V370F|C2orf86_uc010fcr.1_Missense_Mutation_p.V284F NM_015910 NP_056994 O95876 FRITZ_HUMAN hypothetical protein LOC51057 isoform 2 394 WD 2. cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane 0 TTGCTGCCAACTAGCAGAATG 0.458 31 93 --- --- --- --- PASS CAPG 822 broad.mit.edu 37 2 85628714 85628714 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:85628714C>A uc002spl.1 - 4 539 c.289G>T c.(289-291)GAG>TAG p.E97* CAPG_uc002spm.1_Nonsense_Mutation_p.E97*|CAPG_uc010ysq.1_Nonsense_Mutation_p.E97*|CAPG_uc010fgi.1_Nonsense_Mutation_p.E97*|CAPG_uc010fgj.1_5'UTR NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 97 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 CCCTGCACCTCGCGGTGCTGC 0.647 3 51 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89544262 89544262 + RNA SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:89544262G>T uc010ytr.1 - 14 c.1923C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TACCACTGTGGGAGGCCAGTG 0.557 25 68 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95539830 95539830 + Silent SNP G A A rs35031477 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:95539830G>A uc002stw.1 + 3 783 c.690G>A c.(688-690)CCG>CCA p.P230P uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 AGGCTCATCCGTACTCCACCA 0.662 15 38 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95542363 95542363 + Missense_Mutation SNP C A A rs112631866 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:95542363C>A uc002stw.1 + 6 1250 c.1157C>A c.(1156-1158)GCG>GAG p.A386E uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 386 Potential. cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CTTCTAGAAGCGGAGCAGTCC 0.597 4 17 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96949340 96949340 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:96949340G>A uc002svu.2 - 33 4782 c.4696C>T c.(4696-4698)CGC>TGC p.R1566C SNRNP200_uc002svt.2_Missense_Mutation_p.R176C|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.R93C NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1566 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 GTCTGCTTGCGAGACGGCACA 0.592 9 98 --- --- --- --- PASS PSD4 23550 broad.mit.edu 37 2 113950133 113950133 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:113950133G>T uc002tjc.2 + 6 1988 c.1805G>T c.(1804-1806)CGG>CTG p.R602L PSD4_uc002tjd.2_Missense_Mutation_p.R223L|PSD4_uc002tje.2_Missense_Mutation_p.R573L|PSD4_uc002tjf.2_Missense_Mutation_p.R223L NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 602 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GAGGGCTTCCGGAAGTCTGAA 0.602 18 42 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121744085 121744085 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:121744085G>A uc010flp.2 + 12 2218 c.2188G>A c.(2188-2190)GAG>AAG p.E730K GLI2_uc002tmq.1_Missense_Mutation_p.E402K|GLI2_uc002tmr.1_Missense_Mutation_p.E385K|GLI2_uc002tmt.3_Missense_Mutation_p.E402K|GLI2_uc002tmu.3_Missense_Mutation_p.E385K|GLI2_uc002tmw.1_Missense_Mutation_p.E713K NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 730 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GCACCGGTTCGAGCAGCTCAA 0.647 26 27 --- --- --- --- PASS TUBA3D 113457 broad.mit.edu 37 2 132237844 132237844 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:132237844C>A uc002tsu.3 + 4 685 c.578C>A c.(577-579)ACG>AAG p.T193K NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 193 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) ACCACCCACACGACCCTGGAA 0.542 42 151 --- --- --- --- PASS MIR663B 100302269 broad.mit.edu 37 2 133014622 133014622 + RNA SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:133014622C>A hsa-mir-663b|MI0006336 - c.32C>A NCRNA00164_uc002ttj.3_Intron 0 ACCGCAGCGACCCGCCTAGGA 0.697 4 15 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135745182 135745182 + Silent SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:135745182A>T uc002tue.1 - 7 1291 c.1260T>A c.(1258-1260)GTT>GTA p.V420V YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.V307V|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Silent_p.V148V|YSK4_uc002tui.3_Silent_p.V437V NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 420 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TATGTAATGAAACTCTTTTTG 0.348 23 87 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145157445 145157445 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:145157445G>T uc002tvu.2 - 8 1789 c.1309C>A c.(1309-1311)CAG>AAG p.Q437K ZEB2_uc002tvv.2_Missense_Mutation_p.Q431K|ZEB2_uc010zbm.1_Missense_Mutation_p.Q408K|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.Q466K NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 437 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CCTAAGTGCTGCATTGGACTC 0.468 38 61 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179529454 179529454 + Silent SNP A C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:179529454A>C uc010zfk.1 - 12 1115 c.567T>G c.(565-567)GCT>GCG p.A189A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TTTCTTGGAGAGCTTCAGGCA 0.383 8 40 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576820 179576820 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:179576820C>T uc010zfg.1 - 93 24229 c.24005G>A c.(24004-24006)AGA>AAA p.R8002K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R4663K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8929 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) CGTAGTGGGTCTCAATTTTGT 0.408 23 48 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179628932 179628932 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:179628932G>T uc010zfg.1 - 43 10310 c.10086C>A c.(10084-10086)GCC>GCA p.A3362A TTN_uc010zfh.1_Silent_p.A3316A|TTN_uc010zfi.1_Silent_p.A3316A|TTN_uc010zfj.1_Silent_p.A3316A|TTN_uc002umz.1_Silent_p.A23A|TTN_uc002unb.2_Silent_p.A3362A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ATTGAAAACGGGCTGGCTGCC 0.453 12 77 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179635941 179635941 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:179635941C>A uc010zfg.1 - 34 8337 c.8113G>T c.(8113-8115)GAA>TAA p.E2705* TTN_uc010zfh.1_Nonsense_Mutation_p.E2659*|TTN_uc010zfi.1_Nonsense_Mutation_p.E2659*|TTN_uc010zfj.1_Nonsense_Mutation_p.E2659*|TTN_uc002unb.2_Nonsense_Mutation_p.E2705* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2705 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) TACTTGCCTTCAACTTTGAGT 0.368 20 57 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196681439 196681439 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:196681439G>T uc002utj.3 - 51 9775 c.9674C>A c.(9673-9675)CCC>CAC p.P3225H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3225 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CTGGTACATGGGCTCAATGTT 0.383 18 43 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202582799 202582799 + Splice_Site SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:202582799C>A uc002uyo.2 - 24 4192 c.3836_splice c.e24+1 p.F1279_splice ALS2_uc010ftl.2_Splice_Site NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 TAGTTACTCACAAAACTTTAG 0.323 8 48 --- --- --- --- PASS SPEG 10290 broad.mit.edu 37 2 220342649 220342649 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:220342649C>A uc010fwg.2 + 22 4849 c.4849C>A c.(4849-4851)CGC>AGC p.R1617S NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1617 Protein kinase 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CTACTTGCGGCGCATAGTGGA 0.647 22 93 --- --- --- --- PASS PSMD1 5707 broad.mit.edu 37 2 231951878 231951878 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:231951878T>C uc002vrn.1 + 16 1997 c.1866T>C c.(1864-1866)CTT>CTC p.L622L PSMD1_uc002vrm.1_Silent_p.L622L|PSMD1_uc010fxu.1_Silent_p.L486L NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 622 PC 7. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TAGAATCACTTGGGTTCATTC 0.333 10 52 --- --- --- --- PASS TRPM8 79054 broad.mit.edu 37 2 234854669 234854669 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr2:234854669T>A uc002vvh.2 + 7 909 c.869T>A c.(868-870)ATT>AAT p.I290N TRPM8_uc010fyj.2_5'UTR NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 290 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GAGCGCACTATTCAAGGTCAG 0.473 6 43 --- --- --- --- PASS ZNF167 55888 broad.mit.edu 37 3 44611698 44611698 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:44611698C>A uc010hin.2 + 6 1484 c.1096C>A c.(1096-1098)CTG>ATG p.L366M ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.L215M|ZNF167_uc003cnj.2_Missense_Mutation_p.L366M|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 366 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) ACATCCACCTCTGTCTTCCAG 0.373 4 102 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49689524 49689524 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:49689524G>T uc003cxe.3 + 5 2649 c.2535G>T c.(2533-2535)CGG>CGT p.R845R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 845 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCATGCGACGGCAGATTCTCG 0.622 6 19 --- --- --- --- PASS NISCH 11188 broad.mit.edu 37 3 52521868 52521868 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:52521868G>T uc011beg.1 + 17 2432 c.2360G>T c.(2359-2361)AGT>ATT p.S787I NISCH_uc003ded.3_Missense_Mutation_p.S787I|NISCH_uc003dee.3_Missense_Mutation_p.S276I|NISCH_uc003deg.1_RNA NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 787 Interaction with LIMK (By similarity).|Interaction with ITGA5 (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GTACGGCACAGTGAGAACACG 0.592 6 15 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52538511 52538511 + Silent SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:52538511C>G uc003dej.2 + 11 1259 c.1185C>G c.(1183-1185)GGC>GGG p.G395G STAB1_uc003dei.1_Silent_p.G395G NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 395 Extracellular (Potential).|FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CCACAGCGGGCCCTTTCACCG 0.622 8 36 --- --- --- --- PASS OR5K1 26339 broad.mit.edu 37 3 98188464 98188464 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:98188464C>A uc003dsm.2 + 1 44 c.44C>A c.(43-45)ACA>AAA p.T15K NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTTATCCTCACAGGATTTACA 0.403 22 164 --- --- --- --- PASS CEP97 79598 broad.mit.edu 37 3 101474392 101474392 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:101474392C>G uc003dvk.1 + 7 874 c.847C>G c.(847-849)CAA>GAA p.Q283E CEP97_uc010hpm.1_Missense_Mutation_p.Q249E|CEP97_uc011bhf.1_Missense_Mutation_p.Q283E|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.Q121E NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 283 centrosome|nucleus protein binding ovary(2) 2 ACTAGGTCTTCAAACTGCAGA 0.448 15 59 --- --- --- --- PASS FAM55C 91775 broad.mit.edu 37 3 101535662 101535662 + Nonsense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:101535662C>T uc003dvn.2 + 7 1583 c.946C>T c.(946-948)CAA>TAA p.Q316* FAM55C_uc010hpn.2_Nonsense_Mutation_p.Q316* NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 316 extracellular region ovary(1)|pancreas(1)|skin(1) 3 AGAACTATCTCAAGGCTCAGG 0.343 20 91 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114070156 114070156 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:114070156C>T uc003ebi.2 - 4 949 c.769G>A c.(769-771)GGC>AGC p.G257S ZBTB20_uc003ebj.2_Missense_Mutation_p.G184S|ZBTB20_uc010hqp.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebk.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebl.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebm.2_Missense_Mutation_p.G184S|ZBTB20_uc003ebn.2_Missense_Mutation_p.G184S|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GAGCGCTCGCCGCTGCCATTC 0.647 10 73 --- --- --- --- PASS TFDP2 7029 broad.mit.edu 37 3 141678557 141678557 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:141678557G>A uc003eun.3 - 11 1389 c.1010C>T c.(1009-1011)GCG>GTG p.A337V TFDP2_uc003euk.3_Missense_Mutation_p.A250V|TFDP2_uc010hur.2_Missense_Mutation_p.A277V|TFDP2_uc003eul.3_Missense_Mutation_p.A277V|TFDP2_uc011bnf.1_Missense_Mutation_p.A240V|TFDP2_uc011bng.1_Missense_Mutation_p.A201V|TFDP2_uc003eum.3_Missense_Mutation_p.A277V NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 337 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 CAGGGATTTCGCAAGTTTCAG 0.423 34 172 --- --- --- --- PASS EIF2A 83939 broad.mit.edu 37 3 150301669 150301669 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:150301669G>C uc003eya.2 + 14 1745 c.1729G>C c.(1729-1731)GAG>CAG p.E577Q SERP1_uc003exz.2_Intron|EIF2A_uc003eyb.2_Missense_Mutation_p.E450Q|EIF2A_uc003eyc.2_Missense_Mutation_p.E450Q|EIF2A_uc011bnv.1_Missense_Mutation_p.E552Q|EIF2A_uc011bnw.1_Missense_Mutation_p.E516Q|EIF2A_uc003eyd.2_Missense_Mutation_p.E352Q|uc003eye.1_Intron NM_032025 NP_114414 Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A 577 Potential. regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding 0 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CCTTCTCCAGGAGCTGGAAGA 0.338 5 74 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167223158 167223158 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:167223158T>C uc003fev.1 - 13 2071 c.1765A>G c.(1765-1767)AGA>GGA p.R589G WDR49_uc003feu.1_Missense_Mutation_p.R414G|WDR49_uc011bpd.1_Missense_Mutation_p.R554G|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 589 large_intestine(1)|ovary(1)|skin(1) 3 CAGGTACTTCTTTCCTTATAT 0.269 5 65 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178916806 178916806 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:178916806G>A uc003fjk.2 + 2 350 c.193G>A c.(193-195)GAA>AAA p.E65K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 65 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCTTCAAGATGAATCTTCTTA 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 15 137 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179576902 179576902 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:179576902G>T uc003fki.1 - 8 900 c.770C>A c.(769-771)TCT>TAT p.S257Y PEX5L_uc011bqd.1_Missense_Mutation_p.S214Y|PEX5L_uc011bqe.1_Missense_Mutation_p.S65Y|PEX5L_uc011bqf.1_Missense_Mutation_p.S149Y|PEX5L_uc003fkj.1_Missense_Mutation_p.S222Y|PEX5L_uc010hxd.1_Missense_Mutation_p.S255Y|PEX5L_uc011bqg.1_Missense_Mutation_p.S233Y|PEX5L_uc011bqh.1_Missense_Mutation_p.S198Y NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 257 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GTGGTTTCTAGAAAGTAATGC 0.373 12 70 --- --- --- --- PASS B3GNT5 84002 broad.mit.edu 37 3 182988594 182988594 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr3:182988594T>C uc003flk.2 + 2 1538 c.1008T>C c.(1006-1008)GCT>GCC p.A336A MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Silent_p.A336A|B3GNT5_uc003flm.2_Silent_p.A336A NM_032047 NP_114436 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal 336 Lumenal (Potential). central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity ovary(1) 1 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GGAAGAATGCTACAGATCCTA 0.353 46 42 --- --- --- --- PASS TMEM175 84286 broad.mit.edu 37 4 951970 951970 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:951970C>G uc003gbq.2 + 11 1299 c.1201C>G c.(1201-1203)CAG>GAG p.Q401E TMEM175_uc003gbr.2_Missense_Mutation_p.Q319E|TMEM175_uc003gbu.2_Missense_Mutation_p.Q319E|TMEM175_uc003gbs.2_Missense_Mutation_p.Q284E|TMEM175_uc003gbt.2_Missense_Mutation_p.Q284E|TMEM175_uc003gbv.2_Missense_Mutation_p.Q284E|TMEM175_uc010ibm.2_Missense_Mutation_p.Q217E NM_032326 NP_115702 Q9BSA9 TM175_HUMAN transmembrane protein 175 401 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCTGCTGCACCAGGCGGAGAC 0.667 11 19 --- --- --- --- PASS AFAP1 60312 broad.mit.edu 37 4 7820899 7820899 + Splice_Site SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:7820899C>T uc003gkg.1 - 7 1000 c.727_splice c.e7-1 p.V243_splice AFAP1_uc011bwk.1_Splice_Site_p.V243_splice NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 CTTTGATCACCTATAAAAAGC 0.502 10 16 --- --- --- --- PASS RFC1 5981 broad.mit.edu 37 4 39322122 39322122 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:39322122C>G uc003gty.1 - 9 1110 c.976G>C c.(976-978)GAA>CAA p.E326Q RFC1_uc003gtx.1_Missense_Mutation_p.E326Q|RFC1_uc003gtz.1_Missense_Mutation_p.E210Q NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 326 E -> K (in Ref. 1; AAA16121). DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 GAGCTCTCTTCTTTTCTTTTC 0.368 13 30 --- --- --- --- PASS C4orf35 85438 broad.mit.edu 37 4 71201337 71201337 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:71201337C>T uc003hff.2 + 1 667 c.581C>T c.(580-582)TCC>TTC p.S194F NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 194 flagellum calcium ion binding 0 all_hematologic(202;0.196) TATAATTCCTCCATCAAATCC 0.478 9 31 --- --- --- --- PASS GK2 2712 broad.mit.edu 37 4 80329328 80329328 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:80329328C>A uc003hlu.2 - 1 45 c.27G>T c.(25-27)GTG>GTT p.V9V NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 9 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 CCAACGGCCCCACAGCTGCTG 0.587 12 30 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110865192 110865192 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:110865192G>A uc003hzy.3 + 4 1156 c.704G>A c.(703-705)GGA>GAA p.G235E EGF_uc011cfu.1_Missense_Mutation_p.G235E|EGF_uc011cfv.1_Missense_Mutation_p.G235E NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 235 LDL-receptor class B 4.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GATTATGATGGAGGTTCTGTC 0.343 12 33 --- --- --- --- PASS SCLT1 132320 broad.mit.edu 37 4 129867242 129867242 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:129867242G>A uc003igp.2 - 16 1865 c.1359C>T c.(1357-1359)TTC>TTT p.F453F SCLT1_uc003ign.2_Silent_p.F117F|SCLT1_uc003igo.2_Silent_p.F63F|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 453 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CTGAAACCAGGAATCTTTGGT 0.348 9 35 --- --- --- --- PASS GALNTL6 442117 broad.mit.edu 37 4 173734859 173734859 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:173734859C>A uc003isv.2 + 7 1644 c.908C>A c.(907-909)CCC>CAC p.P303H NM_001034845 NP_001030017 Q49A17 GLTL6_HUMAN N-acetylgalactosaminyltransferase-like 6 303 Lumenal (Potential). Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|ovary(1)|skin(1) 4 AGGGCAGATCCCAGCGACCCT 0.552 5 19 --- --- --- --- PASS GLRA3 8001 broad.mit.edu 37 4 175565117 175565117 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr4:175565117G>A uc003ity.1 - 10 1718 c.1215C>T c.(1213-1215)CAC>CAT p.H405H GLRA3_uc003itz.1_Silent_p.H390H NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 405 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) CCTGGACAGGGTGGTTGGGGC 0.502 27 52 --- --- --- --- PASS CDH6 1004 broad.mit.edu 37 5 31299680 31299680 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:31299680C>A uc003jhe.1 + 5 1079 c.753C>A c.(751-753)ACC>ACA p.T251T CDH6_uc003jhd.1_Silent_p.T251T NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 251 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TATCTGGGACCACCACCGTGA 0.478 17 50 --- --- --- --- PASS HEATR7B2 133558 broad.mit.edu 37 5 41049468 41049468 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:41049468C>A uc003jmj.3 - 14 1905 c.1415G>T c.(1414-1416)AGT>ATT p.S472I HEATR7B2_uc003jmi.3_Missense_Mutation_p.S27I NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 472 binding ovary(6)|central_nervous_system(2) 8 TCTGATGATACTAAACAGGGG 0.483 9 27 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45695818 45695818 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:45695818C>A uc003jok.2 - 1 403 c.378G>T c.(376-378)AGG>AGT p.R126S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 126 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CAGTTTTAACCCTTTCCTGCT 0.587 9 21 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45695819 45695819 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:45695819C>A uc003jok.2 - 1 402 c.377G>T c.(376-378)AGG>ATG p.R126M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 126 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AGTTTTAACCCTTTCCTGCTC 0.582 9 22 --- --- --- --- PASS MAP3K1 4214 broad.mit.edu 37 5 56161203 56161203 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:56161203C>T uc003jqw.3 + 5 1573 c.1072C>T c.(1072-1074)CTG>TTG p.L358L NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 358 SWIM-type. cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CTGTATTCATCTGCTATTTGT 0.343 18 69 --- --- --- --- PASS F2RL1 2150 broad.mit.edu 37 5 76129000 76129000 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:76129000A>G uc003keo.2 + 2 743 c.568A>G c.(568-570)ATT>GTT p.I190V NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 190 Cytoplasmic (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) GAAGGCAAACATTGCCATTGG 0.502 29 105 --- --- --- --- PASS ANKRD34B 340120 broad.mit.edu 37 5 79854374 79854374 + Nonsense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:79854374T>A uc010jam.2 - 4 1815 c.1465A>T c.(1465-1467)AAA>TAA p.K489* ANKRD34B_uc003kgw.2_Nonsense_Mutation_p.K489*|ANKRD34B_uc010jan.2_Nonsense_Mutation_p.K489* NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 489 cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) TTGAATTCTTTAGGGAAAATC 0.353 23 98 --- --- --- --- PASS ATP6AP1L 92270 broad.mit.edu 37 5 81608539 81608539 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:81608539G>T uc003khv.2 + 9 1566 c.241G>T c.(241-243)GTA>TTA p.V81L ATP6AP1L_uc003khw.2_Missense_Mutation_p.V81L NM_001017971 NP_001017971 Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory 81 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 CCCAACTGGCGTATATGCTCC 0.532 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 129 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127729062 127729062 + Splice_Site SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:127729062C>A uc003kuu.2 - 10 1671 c.1232_splice c.e10-1 p.E411_splice FBN2_uc003kuv.2_Splice_Site_p.E378_splice NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CGATATTCCTCTAGAAGAAAA 0.463 4 41 --- --- --- --- PASS PKD2L2 27039 broad.mit.edu 37 5 137257368 137257368 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:137257368G>A uc003lby.2 + 9 1428 c.1372G>A c.(1372-1374)GGT>AGT p.G458S PKD2L2_uc003lbw.1_Missense_Mutation_p.G458S|PKD2L2_uc003lbx.2_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.G66S NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 458 Extracellular (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TAATTTTGCTGGTATTCAGCA 0.318 11 53 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554381 140554381 + Silent SNP C T T rs17844474 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:140554381C>T uc003lit.2 + 1 2139 c.1965C>T c.(1963-1965)ACC>ACT p.T655T NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 655 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCGGCCACCGCCACGCTGC 0.711 18 83 --- --- --- --- PASS PCDHB10 56126 broad.mit.edu 37 5 140572222 140572222 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:140572222T>A uc003lix.2 + 1 271 c.97T>A c.(97-99)TAT>AAT p.Y33N NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 33 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTTGGACGTTATTCGGTGAC 0.507 29 74 --- --- --- --- PASS SPINK7 84651 broad.mit.edu 37 5 147693698 147693698 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:147693698G>A uc003lpd.2 + 3 180 c.123G>A c.(121-123)GTG>GTA p.V41V uc003lpb.1_Intron NM_032566 NP_115955 P58062 ISK7_HUMAN serine peptidase inhibitor, Kazal type 7 41 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGTGGTGGCCATCCCCT 0.473 22 124 --- --- --- --- PASS RBM22 55696 broad.mit.edu 37 5 150072543 150072543 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:150072543T>A uc003lst.2 - 10 1168 c.1046A>T c.(1045-1047)TAC>TTC p.Y349F NM_018047 NP_060517 Q9NW64 RBM22_HUMAN RNA binding motif protein 22 349 Pro-rich. protein import into nucleus, translocation catalytic step 2 spliceosome|cytoplasm calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding 0 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGTTGAAGTAGTTGGCAGA 0.547 12 39 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160886795 160886795 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr5:160886795T>C uc003lys.1 - 5 511 c.293A>G c.(292-294)TAT>TGT p.Y98C GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.Y98C|GABRB2_uc003lyt.1_Missense_Mutation_p.Y98C|GABRB2_uc010jiu.1_Missense_Mutation_p.Y35C|GABRB2_uc011dei.1_Missense_Mutation_p.Y98C NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 98 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TATTACATTATAGGACAGCCT 0.403 13 39 --- --- --- --- PASS HIST1H3F 8968 broad.mit.edu 37 6 26250687 26250687 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:26250687G>A uc003nhg.1 - 1 149 c.147C>T c.(145-147)CTC>CTT p.L49L HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 49 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 GGATTTCACGGAGGGCGACAG 0.617 14 96 --- --- --- --- PASS OR2H1 26716 broad.mit.edu 37 6 29430068 29430068 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:29430068C>G uc003nmi.2 + 3 965 c.522C>G c.(520-522)GAC>GAG p.D174E OR2H1_uc003nmj.1_Missense_Mutation_p.D174E|OR2H1_uc010jri.1_Missense_Mutation_p.D96E NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGATAGATGACTTTTTATGTG 0.507 75 107 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34985396 34985396 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:34985396G>C uc003ojx.3 + 11 1712 c.1570G>C c.(1570-1572)GGC>CGC p.G524R ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.G64R|ANKS1A_uc010jvp.1_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 524 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 CTGTACCGCTGGCCAGAGCCA 0.692 11 14 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34985397 34985397 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:34985397G>T uc003ojx.3 + 11 1713 c.1571G>T c.(1570-1572)GGC>GTC p.G524V ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Missense_Mutation_p.G64V|ANKS1A_uc010jvp.1_Intron NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 524 cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 TGTACCGCTGGCCAGAGCCAT 0.692 12 13 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66204709 66204709 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:66204709T>C uc011dxu.1 - 4 1133 c.595A>G c.(595-597)AGC>GGC p.S199G EYS_uc003peq.2_Missense_Mutation_p.S199G|EYS_uc003per.1_Missense_Mutation_p.S199G|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 199 EGF-like 1. response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 CAATGGCAGCTATATGTCTTG 0.393 15 36 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76744486 76744486 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:76744486C>A uc003pik.1 - 3 450 c.320G>T c.(319-321)TGG>TTG p.W107L NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 107 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ATATGCTTCCCATACTGCTTC 0.483 11 28 --- --- --- --- PASS NT5E 4907 broad.mit.edu 37 6 86194989 86194989 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:86194989A>T uc003pko.3 + 4 1344 c.788A>T c.(787-789)TAC>TTC p.Y263F NT5E_uc010kbr.2_Missense_Mutation_p.Y263F NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 263 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) GCTGGGAAGTACCCATTCATA 0.483 10 47 --- --- --- --- PASS MACC1 346389 broad.mit.edu 37 7 20198665 20198665 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:20198665C>A uc003sus.3 - 5 1628 c.1319G>T c.(1318-1320)TGT>TTT p.C440F MACC1_uc010kug.2_Missense_Mutation_p.C440F NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN putative binding protein 7a5 440 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity ovary(2)|skin(1) 3 ATCAGGATCACAGGAAAAAAT 0.348 7 42 --- --- --- --- PASS H2AFV 94239 broad.mit.edu 37 7 44880514 44880514 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:44880514T>C uc003tma.2 - 3 334 c.179A>G c.(178-180)GAG>GGG p.E60G H2AFV_uc003tlz.2_Missense_Mutation_p.E60G|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Missense_Mutation_p.E60G|H2AFV_uc003tmd.2_Missense_Mutation_p.E34G NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 60 nucleosome assembly nucleosome|nucleus DNA binding 0 AGTGAGGTACTCCAGAATCGC 0.502 3 18 --- --- --- --- PASS C7orf57 136288 broad.mit.edu 37 7 48086089 48086089 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:48086089T>A uc003toh.3 + 5 595 c.383T>A c.(382-384)GTT>GAT p.V128D C7orf57_uc003toi.3_Missense_Mutation_p.V2D NM_001100159 NP_001093629 Q8NEG2 CG057_HUMAN hypothetical protein LOC136288 128 ovary(1) 1 GATTACATGGTTCATGAAGAA 0.517 8 13 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187608 57187608 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:57187608T>C uc010kzo.2 - 5 1785 c.1514A>G c.(1513-1515)CAT>CGT p.H505R NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 505 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AAGACTTGAATGCCACTTAAA 0.368 3 60 --- --- --- --- PASS CLDN12 9069 broad.mit.edu 37 7 90042534 90042534 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:90042534G>T uc003ukp.2 + 5 1180 c.544G>T c.(544-546)GCT>TCT p.A182S CLDN12_uc003ukq.2_Missense_Mutation_p.A182S|CLDN12_uc010leq.2_Missense_Mutation_p.A182S|CLDN12_uc003ukr.2_Missense_Mutation_p.A182S|CLDN12_uc003uks.2_Missense_Mutation_p.A182S NM_012129 NP_036261 P56749 CLD12_HUMAN claudin 12 182 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 TATTGCTAGTGCTGGGGGCCT 0.413 52 147 --- --- --- --- PASS TAC1 6863 broad.mit.edu 37 7 97361961 97361961 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:97361961G>C uc003uop.3 + 2 283 c.37G>C c.(37-39)GTC>CTC p.V13L TAC1_uc003uoq.3_Missense_Mutation_p.V13L|TAC1_uc003uor.3_Missense_Mutation_p.V13L|TAC1_uc003uos.3_Missense_Mutation_p.V13L NM_003182 NP_003173 P20366 TKN1_HUMAN tachykinin 1 isoform beta precursor 13 detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway extracellular space 0 all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384) Bacitracin(DB00626) CTTTTTTCTTGTCTCCACTCA 0.468 17 104 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100551257 100551257 + RNA SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:100551257C>A uc003uxk.1 + 1 c.508C>A uc003uxl.1_5'UTR Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. ACCATCTACTCCACAGTCAGC 0.512 19 79 --- --- --- --- PASS SLC26A3 1811 broad.mit.edu 37 7 107434225 107434225 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:107434225A>G uc003ver.2 - 3 444 c.233T>C c.(232-234)GTT>GCT p.V78A SLC26A3_uc003ves.2_Missense_Mutation_p.V43A NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 78 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 GATACCAGAAACAATATCACT 0.318 12 25 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122047603 122047603 + Nonsense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:122047603G>A uc010lkp.2 - 19 2900 c.2737C>T c.(2737-2739)CGA>TGA p.R913* CADPS2_uc011knx.1_Nonsense_Mutation_p.R288*|CADPS2_uc003vkg.3_Nonsense_Mutation_p.R607*|CADPS2_uc010lkq.2_Nonsense_Mutation_p.R907* NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 913 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CTGTCATTTCGGAGGAAATTA 0.438 3 19 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133812382 133812382 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:133812382G>C uc003vrm.1 + 1 278 c.262G>C c.(262-264)GAG>CAG p.E88Q NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 88 ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 GGCGGGATCCGAGGAGTCCTC 0.617 8 29 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149493523 149493523 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr7:149493523C>A uc010lpk.2 + 45 6599 c.6599C>A c.(6598-6600)GCG>GAG p.A2200E NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2200 F5/8 type C. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATGGTGCAGGCGAGGTTTGTC 0.627 3 53 --- --- --- --- PASS XPO7 23039 broad.mit.edu 37 8 21844713 21844713 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:21844713G>A uc003xaa.3 + 14 1741 c.1639G>A c.(1639-1641)GAG>AAG p.E547K XPO7_uc010lti.2_Missense_Mutation_p.E556K|XPO7_uc010ltk.2_Missense_Mutation_p.E548K NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 547 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGAGAAGCTAGAGTTGGCCAT 0.493 86 83 --- --- --- --- PASS ASH2L 9070 broad.mit.edu 37 8 37963921 37963921 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:37963921G>A uc003xkt.3 + 2 272 c.214G>A c.(214-216)GGT>AGT p.G72S ASH2L_uc011lbk.1_5'UTR|ASH2L_uc003xku.3_5'UTR|ASH2L_uc010lwa.2_5'UTR NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 72 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CGATGTAAGCGGTGGCTTGGA 0.343 3 86 --- --- --- --- PASS PLAT 5327 broad.mit.edu 37 8 42044968 42044968 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:42044968C>T uc003xos.2 - 6 696 c.487G>A c.(487-489)GGG>AGG p.G163R PLAT_uc010lxf.1_Missense_Mutation_p.G80R|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.G117R|PLAT_uc011lcm.1_Intron|PLAT_uc011lcn.1_Intron NM_000930 NP_000921 P00750 TPA_HUMAN plasminogen activator, tissue isoform 1 163 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|skin(1) 2 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCCTCCGCCCGCTGTAGGGC 0.652 4 28 --- --- --- --- PASS PENK 5179 broad.mit.edu 37 8 57354094 57354094 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:57354094C>T uc003xsz.2 - 2 622 c.541G>A c.(541-543)GAA>AAA p.E181K PENK_uc003xta.3_Missense_Mutation_p.E181K NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 181 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTGCTCACTTCTTCCTCATTA 0.522 93 102 --- --- --- --- PASS VCPIP1 80124 broad.mit.edu 37 8 67547539 67547539 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:67547539C>G uc003xwn.2 - 3 3125 c.2866G>C c.(2866-2868)GAA>CAA p.E956Q NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 956 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) AGTCTATCTTCAGAAGCATTA 0.403 52 44 --- --- --- --- PASS RPL7 6129 broad.mit.edu 37 8 74203803 74203803 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:74203803C>G uc003xzg.2 - 5 544 c.522G>C c.(520-522)TTG>TTC p.L174F RPL7_uc003xzh.1_Missense_Mutation_p.L134F NM_000971 NP_000962 P18124 RL7_HUMAN ribosomal protein L7 174 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome 0 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) ATCGAGCAATCAAAGCGTTAT 0.393 31 34 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767532 77767532 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:77767532G>T uc003yav.2 + 10 8627 c.8240G>T c.(8239-8241)GGG>GTG p.G2747V ZFHX4_uc003yau.1_Missense_Mutation_p.G2792V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2747V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2747 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) GCTGAGGCTGGGTATGATCAA 0.443 HNSCC(33;0.089) 18 23 --- --- --- --- PASS PSKH2 85481 broad.mit.edu 37 8 87076589 87076589 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:87076589C>A uc011lfy.1 - 2 457 c.457G>T c.(457-459)GGA>TGA p.G153* NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 153 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) GTAAAGGATCCCTGAGCAATG 0.493 4 68 --- --- --- --- PASS INTS8 55656 broad.mit.edu 37 8 95850755 95850755 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:95850755G>A uc003yhb.2 + 8 1052 c.926G>A c.(925-927)TGT>TAT p.C309Y INTS8_uc003yha.1_Missense_Mutation_p.C309Y|INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.C136Y NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 309 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) TGTCAAGCATGTGATGTTCTT 0.378 8 179 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139207519 139207519 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr8:139207519C>A uc003yuy.2 - 9 1026 c.855G>T c.(853-855)CAG>CAT p.Q285H FAM135B_uc003yux.2_Missense_Mutation_p.Q186H|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 285 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGAGCACAGCTGAGAAAGTG 0.418 HNSCC(54;0.14) 38 56 --- --- --- --- PASS MPDZ 8777 broad.mit.edu 37 9 13110740 13110740 + Splice_Site SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:13110740C>A uc010mhy.2 - 42 5689 c.5638_splice c.e42-1 p.V1880_splice MPDZ_uc003zkx.3_Splice_Site_p.V104_splice|MPDZ_uc003zky.3_Splice_Site_p.V443_splice|MPDZ_uc010mib.2_Splice_Site_p.V614_splice|MPDZ_uc010mhx.2_Splice_Site_p.V731_splice|MPDZ_uc011lmm.1_Splice_Site_p.V768_splice|MPDZ_uc003zkz.3_Splice_Site_p.V602_splice|MPDZ_uc010mhz.2_Splice_Site_p.V1876_splice|MPDZ_uc011lmn.1_Splice_Site_p.V1847_splice|MPDZ_uc003zlb.3_Splice_Site_p.V1880_splice NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TATCCCCAACCTGCAAGGGAG 0.473 7 26 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15777610 15777610 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:15777610G>T uc003zmd.2 + 19 2999 c.2684G>T c.(2683-2685)AGA>ATA p.R895I C9orf93_uc003zme.2_Missense_Mutation_p.R810I|C9orf93_uc011lmu.1_Missense_Mutation_p.R903I|C9orf93_uc003zmf.1_Missense_Mutation_p.R203I NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 895 0 GBM - Glioblastoma multiforme(50;4.84e-07) CCAAATTCCAGAATTTGTGGA 0.333 4 80 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15777713 15777713 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:15777713G>C uc003zmd.2 + 19 3102 c.2787G>C c.(2785-2787)AGG>AGC p.R929S C9orf93_uc003zme.2_Missense_Mutation_p.R844S|C9orf93_uc011lmu.1_Missense_Mutation_p.R937S|C9orf93_uc003zmf.1_Missense_Mutation_p.R237S NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 929 0 GBM - Glioblastoma multiforme(50;4.84e-07) ACAGTAGCAGGAGTATTACAT 0.413 11 101 --- --- --- --- PASS C9orf93 203238 broad.mit.edu 37 9 15777729 15777729 + Nonsense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:15777729G>T uc003zmd.2 + 19 3118 c.2803G>T c.(2803-2805)GAA>TAA p.E935* C9orf93_uc003zme.2_Nonsense_Mutation_p.E850*|C9orf93_uc011lmu.1_Nonsense_Mutation_p.E943*|C9orf93_uc003zmf.1_Nonsense_Mutation_p.E243* NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 935 0 GBM - Glioblastoma multiforme(50;4.84e-07) TACATATGTAGAAAAAGATTC 0.428 12 105 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16419556 16419556 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:16419556C>A uc003zml.2 - 7 2871 c.2731G>T c.(2731-2733)GAC>TAC p.D911Y BNC2_uc011lmw.1_Missense_Mutation_p.D816Y|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.D698Y NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 911 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TCGCGGAGGTCCTTGCTAAGG 0.532 20 146 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32633549 32633549 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:32633549C>G uc003zrg.1 - 1 2119 c.2029G>C c.(2029-2031)GGT>CGT p.G677R uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 677 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTCCACCACCTGAGGCTTGC 0.448 54 53 --- --- --- --- PASS IL11RA 3590 broad.mit.edu 37 9 34659843 34659843 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:34659843G>C uc003zvi.2 + 9 2254 c.898G>C c.(898-900)GAT>CAT p.D300H IL11RA_uc011loq.1_Missense_Mutation_p.D300H|IL11RA_uc003zvj.2_Missense_Mutation_p.D300H|IL11RA_uc003zvk.2_Missense_Mutation_p.D300H|IL11RA_uc010mke.2_Missense_Mutation_p.D182H|IL11RA_uc003zvl.2_RNA NM_004512 NP_004503 Q14626 I11RA_HUMAN interleukin 11 receptor, alpha isoform 1 300 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane cytokine receptor activity skin(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GGACTTTCTAGATGCTGGCAC 0.612 6 55 --- --- --- --- PASS EPB41L4B 54566 broad.mit.edu 37 9 111945036 111945036 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:111945036A>G uc004bdz.1 - 24 2755 c.2460T>C c.(2458-2460)GAT>GAC p.D820D NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 820 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TGGTGAAAGTATCAGGAAACG 0.418 49 78 --- --- --- --- PASS AKNA 80709 broad.mit.edu 37 9 117099585 117099585 + Missense_Mutation SNP A C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:117099585A>C uc004biq.3 - 21 4204 c.4069T>G c.(4069-4071)TAC>GAC p.Y1357D AKNA_uc004bin.3_Missense_Mutation_p.Y604D|AKNA_uc004bio.3_Missense_Mutation_p.Y817D|AKNA_uc004bip.3_Missense_Mutation_p.Y1276D|AKNA_uc004bir.3_Missense_Mutation_p.Y1357D|AKNA_uc004bis.3_Missense_Mutation_p.Y1357D|AKNA_uc010mve.2_Missense_Mutation_p.Y1238D NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 GGCGCATAGTACCTGAGGAGA 0.632 3 36 --- --- --- --- PASS LRRC8A 56262 broad.mit.edu 37 9 131670130 131670130 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr9:131670130G>T uc004bwl.3 + 3 941 c.687G>T c.(685-687)ACG>ACT p.T229T LRRC8A_uc010myp.2_Silent_p.T229T|LRRC8A_uc010myq.2_Silent_p.T229T NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 229 pre-B cell differentiation integral to membrane 0 GCTCAGAGACGGGCGTGCTGG 0.607 11 17 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 871190 871190 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:871190T>C uc001ifs.1 - 12 1340 c.1299A>G c.(1297-1299)GAA>GAG p.E433E NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 433 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TTGAAGGACTTTCTAATAACC 0.403 37 99 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16979726 16979726 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:16979726T>C uc001ioo.2 - 39 5843 c.5791A>G c.(5791-5793)ACT>GCT p.T1931A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1931 CUB 13. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGATTCAGTCTGGGTACCA 0.413 9 55 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17087013 17087013 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:17087013T>C uc001ioo.2 - 25 3717 c.3665A>G c.(3664-3666)TAC>TGC p.Y1222C NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1222 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TACAGCCAGGTAATCTAAAGT 0.423 20 68 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21169795 21169795 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:21169795G>A uc001iqi.2 - 5 805 c.408C>T c.(406-408)TTC>TTT p.F136F NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 136 Nebulin 3. KHDAAKGFSD -> NMMLPRILS (in Ref. 2; AAF24858). regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 CATAATCTGAGAATCCTTTGG 0.403 13 68 --- --- --- --- PASS ARMC3 219681 broad.mit.edu 37 10 23319669 23319669 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:23319669G>T uc001irm.3 + 17 2273 c.2190G>T c.(2188-2190)GTG>GTT p.V730V ARMC3_uc010qcv.1_Silent_p.V723V|ARMC3_uc010qcw.1_Silent_p.V467V NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 730 binding 0 TGTATGAGGTGACCAAATCAA 0.348 20 65 --- --- --- --- PASS FAM21B 55747 broad.mit.edu 37 10 47942065 47942065 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:47942065G>T uc009xni.2 + 24 2528 c.2528G>T c.(2527-2529)TGG>TTG p.W843L FAM21B_uc001jep.3_Missense_Mutation_p.W738L|FAM21B_uc001jeq.3_5'Flank NM_018232 NP_060702 Q5SNT6 FA21B_HUMAN hypothetical protein LOC55747 843 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 AAAGGCATATGGAAGCCAGAA 0.378 12 40 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89720808 89720808 + Nonsense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:89720808T>A uc001kfb.2 + 9 1990 c.959T>A c.(958-960)TTA>TAA p.L320* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 320 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.T319fs*24(4)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L320*(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GTACTTACTTTAACAAAAAAT 0.323 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 25 81 --- --- --- --- PASS NOC3L 64318 broad.mit.edu 37 10 96121573 96121573 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:96121573G>A uc001kjq.1 - 2 154 c.66C>T c.(64-66)GTC>GTT p.V22V NOC3L_uc009xuk.1_5'UTR NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 22 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TTTCAAGTTTGACTTTACTAG 0.323 20 58 --- --- --- --- PASS ENTPD7 57089 broad.mit.edu 37 10 101448486 101448486 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:101448486G>C uc001kqa.3 + 7 866 c.688G>C c.(688-690)GGA>CGA p.G230R ENTPD7_uc009xwl.2_Missense_Mutation_p.G232R NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 230 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) CTTTGTTTTGGGAAGATTCGA 0.383 87 219 --- --- --- --- PASS SORCS1 114815 broad.mit.edu 37 10 108367015 108367015 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:108367015A>G uc001kym.2 - 23 3082 c.3074T>C c.(3073-3075)CTC>CCC p.L1025P SORCS1_uc001kyl.2_Missense_Mutation_p.L1025P|SORCS1_uc009xxs.2_Missense_Mutation_p.L1025P|SORCS1_uc001kyn.1_Missense_Mutation_p.L1025P|SORCS1_uc001kyo.2_Missense_Mutation_p.L1025P NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 1025 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TAAGCCAGGGAGCACCGCCAC 0.567 13 34 --- --- --- --- PASS DUSP5 1847 broad.mit.edu 37 10 112270038 112270038 + Missense_Mutation SNP T G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr10:112270038T>G uc001kzd.2 + 4 1264 c.1009T>G c.(1009-1011)TCA>GCA p.S337A NM_004419 NP_004410 Q16690 DUS5_HUMAN dual specificity phosphatase 5 337 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) AGCAGGCTCTTCACTGATAGG 0.612 8 52 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3028114 3028114 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:3028114T>C uc001lxh.2 - 18 1969 c.1895A>G c.(1894-1896)CAC>CGC p.H632R CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.H622R|CARS_uc001lxf.2_Missense_Mutation_p.H715R|CARS_uc001lxg.2_Missense_Mutation_p.H632R|CARS_uc010qxo.1_Missense_Mutation_p.H715R|CARS_uc010qxp.1_Missense_Mutation_p.H645R NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 632 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CCCACCTTCGTGGTCTTCAAA 0.587 T ALK ALCL 8 179 --- --- --- --- PASS OR52D1 390066 broad.mit.edu 37 11 5510741 5510741 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:5510741C>G uc010qzg.1 + 1 805 c.805C>G c.(805-807)CAC>GAC p.H269D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCGCTTTGGTCACCACGAAGT 0.512 15 50 --- --- --- --- PASS OR52N1 79473 broad.mit.edu 37 11 5809149 5809149 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:5809149T>A uc010qzo.1 - 1 898 c.898A>T c.(898-900)AGG>TGG p.R300W TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CGTACCTGCCTGGTTTTCACC 0.398 24 97 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048454 6048454 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:6048454G>A uc010qzw.1 - 1 481 c.481C>T c.(481-483)CTT>TTT p.L161F NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGTAAGAAGCGCATTCCGC 0.498 11 64 --- --- --- --- PASS OR56A1 120796 broad.mit.edu 37 11 6048757 6048757 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:6048757C>G uc010qzw.1 - 1 178 c.178G>C c.(178-180)GCC>CCC p.A60P NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 60 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGAGAGGCCTCCAGCTGG 0.617 10 53 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6650773 6650773 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:6650773T>A uc001mem.1 - 12 5481 c.5071A>T c.(5071-5073)AGC>TGC p.S1691C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1691 Cadherin 16.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGCTTTCGCTAGAGACGCCT 0.552 3 17 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6661603 6661603 + Silent SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:6661603T>A uc001mem.1 - 2 1652 c.1242A>T c.(1240-1242)CTA>CTT p.L414L NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 414 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTTGGGTGCTTAGGGCAAAGT 0.557 4 10 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47330152 47330152 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:47330152A>G uc001ner.1 + 25 3961 c.3770A>G c.(3769-3771)CAC>CGC p.H1257R MADD_uc001neq.2_Missense_Mutation_p.H1219R|MADD_uc001nev.1_Missense_Mutation_p.H1176R|MADD_uc001nes.1_Missense_Mutation_p.H1196R|MADD_uc001net.1_Missense_Mutation_p.H1239R|MADD_uc009yln.1_Missense_Mutation_p.H1172R|MADD_uc001neu.1_Missense_Mutation_p.H1176R|MADD_uc001nex.2_Missense_Mutation_p.H1257R|MADD_uc001nez.2_Missense_Mutation_p.H1175R|MADD_uc001new.2_Missense_Mutation_p.H1218R|MADD_uc009ylo.2_Missense_Mutation_p.H171R NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1257 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) GGTAAAGCCCACAGCTTGAAG 0.507 11 30 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56128131 56128131 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:56128131T>A uc010rjh.1 + 1 409 c.409T>A c.(409-411)TCT>ACT p.S137T NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGTGGTGGTGTCTCGGCGGCT 0.468 19 70 --- --- --- --- PASS OR5R1 219479 broad.mit.edu 37 11 56185408 56185408 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:56185408G>T uc010rji.1 - 1 301 c.301C>A c.(301-303)CTG>ATG p.L101M NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AAACAACCCAGTTGGGTTGCA 0.453 6 34 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409733 56409733 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:56409733G>A uc001njb.1 - 1 183 c.183C>T c.(181-183)CTC>CTT p.L61L NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 61 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 TGGGGGTGTGGAGACAGAGAT 0.433 6 40 --- --- --- --- PASS OR5B21 219968 broad.mit.edu 37 11 58275212 58275212 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:58275212C>G uc010rki.1 - 1 367 c.367G>C c.(367-369)GCG>CCG p.A123P NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTACATACCGCTGCATGGCGA 0.527 3 27 --- --- --- --- PASS LGALS12 85329 broad.mit.edu 37 11 63279225 63279225 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:63279225A>T uc001nxa.2 + 7 967 c.626A>T c.(625-627)GAG>GTG p.E209V LGALS12_uc001nxb.2_Missense_Mutation_p.E200V|LGALS12_uc001nxc.2_Missense_Mutation_p.E210V|LGALS12_uc001nxd.2_Missense_Mutation_p.E148V|LGALS12_uc001nxe.2_Missense_Mutation_p.E139V|LGALS12_uc009yot.2_Missense_Mutation_p.E169V NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform 209 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 TTCCTTCAGGAGGTGCCCTGC 0.612 11 47 --- --- --- --- PASS SPTBN2 6712 broad.mit.edu 37 11 66488695 66488695 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:66488695G>A uc001ojd.2 - 2 89 c.17C>T c.(16-18)TCA>TTA p.S6L NM_006946 NP_008877 O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 6 Actin-binding. actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GTCTGTGGGTGACAGCGTGCT 0.592 15 69 --- --- --- --- PASS ARAP1 116985 broad.mit.edu 37 11 72424248 72424248 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:72424248C>A uc001osu.2 - 5 909 c.720G>T c.(718-720)GGG>GGT p.G240G ARAP1_uc001osv.2_Silent_p.G240G|ARAP1_uc001osr.2_5'UTR|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 240 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TGGCTGGGGCCCCCGGCCCCT 0.667 10 49 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85445045 85445045 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:85445045C>A uc010rth.1 - 6 1600 c.1324G>T c.(1324-1326)GAA>TAA p.E442* SYTL2_uc010rtg.1_Nonsense_Mutation_p.E443*|SYTL2_uc010rti.1_Nonsense_Mutation_p.E442*|SYTL2_uc010rtj.1_Nonsense_Mutation_p.E394*|SYTL2_uc001pbf.3_Nonsense_Mutation_p.E442*|SYTL2_uc010rtf.1_Nonsense_Mutation_p.E300* NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 442 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCTTTGGGTTCATTGATGGTT 0.388 20 135 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88337890 88337890 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:88337890C>A uc001pcq.2 - 4 1590 c.1390G>T c.(1390-1392)GGA>TGA p.G464* GRM5_uc009yvm.2_Nonsense_Mutation_p.G464* NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 464 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) CAATACCTTCCTGGAGAGTCT 0.423 7 33 --- --- --- --- PASS MTNR1B 4544 broad.mit.edu 37 11 92714753 92714753 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:92714753C>A uc001pdk.1 + 2 467 c.364C>A c.(364-366)CTG>ATG p.L122M NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 122 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TGTGATGGGCCTGAGCGTCAT 0.597 23 84 --- --- --- --- PASS CCDC67 159989 broad.mit.edu 37 11 93097451 93097451 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:93097451G>C uc001pdq.2 + 5 523 c.423G>C c.(421-423)CAG>CAC p.Q141H CCDC67_uc001pdo.1_Missense_Mutation_p.Q141H|CCDC67_uc001pdp.2_Missense_Mutation_p.Q141H NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 141 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) ATTTGAACCAGAAATTAGAGG 0.333 6 49 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105483132 105483132 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:105483132C>A uc001pix.2 + 3 664 c.218C>A c.(217-219)ACA>AAA p.T73K GRIA4_uc001piu.1_Missense_Mutation_p.T73K|GRIA4_uc001piw.2_Missense_Mutation_p.T73K|GRIA4_uc001piv.2_Missense_Mutation_p.T73K|GRIA4_uc009yxk.1_Missense_Mutation_p.T73K|GRIA4_uc001pit.2_Missense_Mutation_p.T73K NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 73 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AACATTGAGACAGCCAACAGT 0.398 5 67 --- --- --- --- PASS DPAGT1 1798 broad.mit.edu 37 11 118971749 118971749 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:118971749A>G uc001pvi.2 - 2 681 c.261T>C c.(259-261)TGT>TGC p.C87C DPAGT1_uc001pvj.2_Intron|DPAGT1_uc009zaq.2_RNA|DPAGT1_uc001pvk.2_5'UTR|DPAGT1_uc010ryz.1_Silent_p.C87C|DPAGT1_uc001pvm.1_5'Flank|DPAGT1_uc010rza.1_Intron NM_001382 NP_001373 Q9H3H5 GPT_HUMAN UDP-N-acetylglucosamine-dolichyl-phosphate 87 Lumenal (Potential). dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|ovary(1) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) GGAATGCCTTACACTGCTCCT 0.537 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 46 --- --- --- --- PASS OR8A1 390275 broad.mit.edu 37 11 124440849 124440849 + Silent SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:124440849C>A uc010san.1 + 1 885 c.885C>A c.(883-885)ACC>ACA p.T295T NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(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;0.0214) TGTTCTACACCACGGTAATCC 0.478 8 33 --- --- --- --- PASS EI24 9538 broad.mit.edu 37 11 125448072 125448072 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:125448072C>A uc001qca.2 + 6 602 c.360C>A c.(358-360)TTC>TTA p.F120L EI24_uc001qcb.2_Missense_Mutation_p.F120L|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Missense_Mutation_p.F120L|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Missense_Mutation_p.F106L|EI24_uc010sbf.1_RNA NM_004879 NP_004870 O14681 EI24_HUMAN etoposide induced 2.4 isoform 1 120 Helical; (Potential). apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) GGCTGGAATTCTTCCTCACGT 0.453 4 72 --- --- --- --- PASS GLB1L3 112937 broad.mit.edu 37 11 134181039 134181039 + Nonsense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr11:134181039G>A uc009zdf.2 + 13 1622 c.1262G>A c.(1261-1263)TGG>TAG p.W421* GLB1L3_uc010scu.1_3'UTR|GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 421 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTCCCGCTGTGGGACGCCCTA 0.597 29 92 --- --- --- --- PASS KCNA5 3741 broad.mit.edu 37 12 5154154 5154154 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:5154154C>A uc001qni.2 + 1 1070 c.841C>A c.(841-843)CTG>ATG p.L281M NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 281 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 TGAACGTGAGCTGCTCCGCCA 0.692 59 47 --- --- --- --- PASS KLRF1 51348 broad.mit.edu 37 12 9997097 9997097 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:9997097G>T uc010sgw.1 + 7 732 c.668G>T c.(667-669)AGT>ATT p.S223I KLRF1_uc009zgw.2_Missense_Mutation_p.S174I|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_3'UTR|KLRF1_uc009zha.2_RNA NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 224 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 ACCTGCAGCAGTGTTTTCAAA 0.333 30 30 --- --- --- --- PASS PLBD1 79887 broad.mit.edu 37 12 14659942 14659942 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:14659942G>T uc001rcc.1 - 9 1458 c.1297C>A c.(1297-1299)CGA>AGA p.R433R NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 433 lipid catabolic process extracellular region hydrolase activity 0 ATTTTGGCTCGTGGAGCTAAA 0.423 72 64 --- --- --- --- PASS ERP27 121506 broad.mit.edu 37 12 15068528 15068528 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:15068528T>C uc001rco.2 - 6 690 c.669A>G c.(667-669)GCA>GCG p.A223A NM_152321 NP_689534 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 kDa precursor 223 endoplasmic reticulum lumen breast(1) 1 TCTGGTAAATTGCCAAAGCTG 0.413 10 99 --- --- --- --- PASS ANO6 196527 broad.mit.edu 37 12 45810620 45810620 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:45810620A>G uc001roo.2 + 17 2485 c.2150A>G c.(2149-2151)AAA>AGA p.K717R ANO6_uc010sld.1_Missense_Mutation_p.K717R|ANO6_uc010sle.1_Missense_Mutation_p.K717R|ANO6_uc010slf.1_Missense_Mutation_p.K738R|ANO6_uc010slg.1_Missense_Mutation_p.K699R NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 717 Cytoplasmic (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 GTACCAGAGAAAGCCCAAGAC 0.483 13 50 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46320223 46320223 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:46320223A>G uc001rox.2 - 11 3548 c.3261T>C c.(3259-3261)TTT>TTC p.F1087F SFRS2IP_uc001row.2_Silent_p.F772F|SFRS2IP_uc001roy.1_Silent_p.F1161F NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1087 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) CTTTATAGGCAAAACTACTTC 0.428 9 74 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48368475 48368475 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:48368475T>C uc001rqu.2 - 52 4238 c.4057A>G c.(4057-4059)ATC>GTC p.I1353V COL2A1_uc001rqt.2_Missense_Mutation_p.I134V|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.I1284V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1353 Fibrillar collagen NC1. 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) CCACCATTGATGGTTTCTCCA 0.493 48 137 --- --- --- --- PASS DCD 117159 broad.mit.edu 37 12 55042031 55042031 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:55042031G>A uc001sgj.2 - 1 119 c.57C>T c.(55-57)GCC>GCT p.A19A DCD_uc009znt.2_Silent_p.A19A|DCD_uc009znu.2_RNA NM_053283 NP_444513 P81605 DCD_HUMAN dermcidin preproprotein 19 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding ovary(1) 1 Myeloproliferative disorder(1001;0.0255) CATACTCACAGGCACAGACCA 0.572 3 29 --- --- --- --- PASS MIR1279 100302182 broad.mit.edu 37 12 69666975 69666975 + RNA SNP A C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:69666975A>C hsa-mir-1279|MI0006426 - c.24A>C CPSF6_uc001sut.3_3'UTR|CPSF6_uc001suu.3_3'UTR|CPSF6_uc010stk.1_3'UTR 0 ATTAGAAAGAAGCAATATGAA 0.294 14 52 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81741394 81741394 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:81741394G>C uc001szo.1 - 18 2311 c.2150C>G c.(2149-2151)TCT>TGT p.S717C 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 2 643 ovary(3)|lung(2)|pancreas(1) 6 ACTGGGGGGAGATGAACTGGC 0.557 21 82 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94603390 94603390 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:94603390A>G uc001tdc.2 + 5 1713 c.1464A>G c.(1462-1464)GTA>GTG p.V488V NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 488 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GAGATTGTGTACATTCAGAGA 0.398 40 153 --- --- --- --- PASS GNPTAB 79158 broad.mit.edu 37 12 102161813 102161813 + Splice_Site SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:102161813A>G uc001tit.2 - 11 1587 c.1408_splice c.e11+1 p.G470_splice GNPTAB_uc001tiu.1_Silent_p.G470G NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 ACACATCCTTACCAGAGCAAT 0.393 13 34 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132561125 132561125 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr12:132561125C>G uc001ujn.2 + 51 9121 c.9086C>G c.(9085-9087)TCT>TGT p.S3029C EP400_uc001ujl.2_Missense_Mutation_p.S3028C|EP400_uc001ujm.2_Missense_Mutation_p.S2948C|EP400_uc001ujp.2_Missense_Mutation_p.S239C|EP400_uc010tbo.1_Silent_p.L95L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 3065 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CAAGTTGCCTCTGCTTCCCAG 0.448 7 23 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25009391 25009391 + Silent SNP T G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr13:25009391T>G uc001upl.2 - 31 3994 c.3888A>C c.(3886-3888)ACA>ACC p.T1296T NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1296 cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GTTCAGTTGCTGTTGGTTTAC 0.433 26 58 --- --- --- --- PASS PDS5B 23047 broad.mit.edu 37 13 33225993 33225993 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr13:33225993A>T uc010abf.2 + 3 319 c.161A>T c.(160-162)GAG>GTG p.E54V PDS5B_uc001uun.2_Missense_Mutation_p.E54V|PDS5B_uc001uuo.2_Missense_Mutation_p.E54V|PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 54 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GAAGAAAAGGAGCTTTATTTA 0.338 38 81 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444720 20444720 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:20444720A>T uc010tkx.1 + 1 1043 c.1043A>T c.(1042-1044)AAG>ATG p.K348M NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 348 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CTAGAAACAAAGTAAACTTAT 0.393 4 20 --- --- --- --- PASS RNF31 55072 broad.mit.edu 37 14 24626559 24626559 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:24626559G>T uc001wmn.1 + 15 2803 c.2554G>T c.(2554-2556)GAC>TAC p.D852Y RNF31_uc001wml.1_Missense_Mutation_p.D701Y|RNF31_uc010alg.1_Missense_Mutation_p.D611Y|RNF31_uc001wmo.1_Missense_Mutation_p.D319Y|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.D36Y NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 852 CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) ACGCATGAACGACCCAGAATA 0.557 6 24 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42361008 42361008 + Silent SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:42361008T>A uc001wvm.2 + 4 3139 c.1941T>A c.(1939-1941)ACT>ACA p.T647T LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 647 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AAAGAAAGACTGGCACAAAGC 0.468 HNSCC(30;0.082) 6 21 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55458047 55458047 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:55458047G>C uc001xbm.1 - 12 1303 c.1225C>G c.(1225-1227)CAC>GAC p.H409D WDHD1_uc010aom.1_5'UTR|WDHD1_uc001xbn.1_Missense_Mutation_p.H286D NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 409 cytoplasm|nucleoplasm DNA binding skin(1) 1 GGTAGATTGTGAATGCTGCCT 0.428 16 65 --- --- --- --- PASS ZBTB1 22890 broad.mit.edu 37 14 64990087 64990087 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:64990087G>A uc001xhh.3 + 4 2296 c.1865G>A c.(1864-1866)CGA>CAA p.R622Q ZBTB1_uc010aqg.2_Missense_Mutation_p.R622Q|ZBTB1_uc001xhi.2_Missense_Mutation_p.R622Q NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 isoform 622 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CGTCAGTTGCGACTGCACAAT 0.403 6 90 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72085580 72085580 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:72085580C>T uc001xms.2 + 3 1953 c.1605C>T c.(1603-1605)TAC>TAT p.Y535Y SIPA1L1_uc001xmt.2_Silent_p.Y535Y|SIPA1L1_uc001xmu.2_Silent_p.Y535Y|SIPA1L1_uc001xmv.2_Silent_p.Y535Y|SIPA1L1_uc010ttm.1_Silent_p.Y10Y NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 535 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CGTACAACTACCGAATAATTT 0.403 9 44 --- --- --- --- PASS PSEN1 5663 broad.mit.edu 37 14 73653560 73653560 + Splice_Site SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:73653560G>C uc001xnr.2 + 6 765 c.481_splice c.e6-1 p.V161_splice PSEN1_uc001xnv.2_Splice_Site_p.V157_splice|PSEN1_uc010ark.2_Splice_Site_p.V157_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site|uc010ttv.1_5'Flank NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TTCTTTTCTAGGTCATCCATG 0.269 28 107 --- --- --- --- PASS ASB2 51676 broad.mit.edu 37 14 94420705 94420705 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:94420705C>A uc001ycc.1 - 2 781 c.292G>T c.(292-294)GCA>TCA p.A98S ASB2_uc001ycd.2_Missense_Mutation_p.A146S|ASB2_uc001yce.1_Missense_Mutation_p.A44S NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 98 ANK 2. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CCATAGTATGCGGCCTCGTGC 0.607 10 35 --- --- --- --- PASS BDKRB2 624 broad.mit.edu 37 14 96707244 96707244 + Silent SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:96707244G>T uc010avm.1 + 3 775 c.579G>T c.(577-579)CTG>CTT p.L193L BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Silent_p.L166L|BDKRB2_uc001yfg.2_Silent_p.L193L NM_000623 NP_000614 P30411 BKRB2_HUMAN bradykinin receptor B2 193 Helical; Name=4; (Potential). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding ovary(3)|breast(1)|kidney(1) 5 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CACCCATGCTGGTGTTCCGGA 0.587 14 62 --- --- --- --- PASS BDKRB2 624 broad.mit.edu 37 14 96707245 96707245 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:96707245G>T uc010avm.1 + 3 776 c.580G>T c.(580-582)GTG>TTG p.V194L BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.V167L|BDKRB2_uc001yfg.2_Missense_Mutation_p.V194L NM_000623 NP_000614 P30411 BKRB2_HUMAN bradykinin receptor B2 194 Helical; Name=4; (Potential). arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding ovary(3)|breast(1)|kidney(1) 5 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) ACCCATGCTGGTGTTCCGGAC 0.587 14 60 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107034795 107034795 + RNA SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr14:107034795G>A uc010tyt.1 - 154 c.7438C>T uc001ysz.2_Silent_p.I95I Parts of antibodies, mostly variable regions. 0 AGGCGGTGCTGATGGACTTGT 0.582 18 59 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22861915 22861915 + Silent SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:22861915G>C uc001yur.3 + 14 2065 c.1935G>C c.(1933-1935)CTG>CTC p.L645L TUBGCP5_uc001yuq.2_Silent_p.L645L|TUBGCP5_uc010axz.1_Silent_p.L232L NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 645 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ATGATCCACTGCTTGCCATTA 0.433 25 76 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34130138 34130138 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:34130138C>A uc001zhi.2 + 89 12027 c.11957C>A c.(11956-11958)CCA>CAA p.P3986Q RYR3_uc010bar.2_Missense_Mutation_p.P3981Q NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3986 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) TTCCATGAGCCAGCCAAGGAC 0.453 19 87 --- --- --- --- PASS PGBD4 161779 broad.mit.edu 37 15 34396022 34396022 + Silent SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:34396022A>T uc001zho.2 + 1 1749 c.1290A>T c.(1288-1290)GCA>GCT p.A430A C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 430 0 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) ATATGGGAGCAGTGGACTCGG 0.378 9 54 --- --- --- --- PASS ZNF770 54989 broad.mit.edu 37 15 35275459 35275459 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:35275459C>T uc001ziw.2 - 3 488 c.177G>A c.(175-177)GTG>GTA p.V59V NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 59 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TTTTATGACACACATCACATT 0.343 9 70 --- --- --- --- PASS CASC4 113201 broad.mit.edu 37 15 44673094 44673094 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:44673094A>G uc001zto.1 + 8 1291 c.992A>G c.(991-993)GAC>GGC p.D331G CASC4_uc001ztp.2_Missense_Mutation_p.D331G|CASC4_uc001ztq.2_Missense_Mutation_p.D331G NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 331 Lumenal (Potential). integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TCAAACTTGGACAGTGAACCC 0.398 16 41 --- --- --- --- PASS TRPM7 54822 broad.mit.edu 37 15 50904864 50904864 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:50904864C>A uc001zyt.3 - 16 2197 c.1933G>T c.(1933-1935)GGT>TGT p.G645C TRPM7_uc010bew.1_Missense_Mutation_p.G645C|TRPM7_uc001zyu.2_Missense_Mutation_p.G203C NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 645 Cytoplasmic (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GATTCTTCACCATGTTGCCAT 0.413 24 86 --- --- --- --- PASS SCG3 29106 broad.mit.edu 37 15 52005588 52005588 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:52005588T>C uc002abh.2 + 11 1674 c.1266T>C c.(1264-1266)CAT>CAC p.H422H SCG3_uc010ufz.1_Silent_p.H190H NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 422 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) TGAAGAAACATGACAAAAAGG 0.368 13 63 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62315669 62315669 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:62315669G>C uc002agz.2 - 8 639 c.565C>G c.(565-567)CAA>GAA p.Q189E VPS13C_uc002aha.2_Missense_Mutation_p.Q146E|VPS13C_uc002ahb.1_Missense_Mutation_p.Q189E|VPS13C_uc002ahc.1_Missense_Mutation_p.Q146E NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 189 protein localization ovary(2) 2 TTTATTACTTGAGTTGCCAAT 0.234 4 17 --- --- --- --- PASS IQCH 64799 broad.mit.edu 37 15 67786640 67786640 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:67786640G>A uc002aqo.1 + 20 2953 c.2906G>A c.(2905-2907)CGC>CAC p.R969H IQCH_uc002aqq.1_Missense_Mutation_p.R626H|IQCH_uc002aqp.1_Silent_p.S609S|uc002aqr.1_Intron NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN IQ motif containing H isoform 1 969 skin(3)|ovary(1) 4 Colorectal(3;0.0856) ACCTTTGCTCGCCATCTCTTC 0.403 5 22 --- --- --- --- PASS NEO1 4756 broad.mit.edu 37 15 73581536 73581536 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:73581536G>A uc002avm.3 + 25 3841 c.3699G>A c.(3697-3699)ATG>ATA p.M1233I NEO1_uc010ukx.1_Missense_Mutation_p.M1222I|NEO1_uc010uky.1_Missense_Mutation_p.M1233I|NEO1_uc010ukz.1_Missense_Mutation_p.M646I|NEO1_uc002avn.3_Missense_Mutation_p.M871I NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 1233 Cytoplasmic (Potential). axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 GGCGAGGAATGAGACCAAAAA 0.498 4 24 --- --- --- --- PASS SNX33 257364 broad.mit.edu 37 15 75942733 75942733 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:75942733G>T uc002bau.2 + 1 1386 c.1290G>T c.(1288-1290)ATG>ATT p.M430I IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_Intron NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 430 BAR. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 CCTTCCAGATGGACCCCCCCT 0.567 28 65 --- --- --- --- PASS CHRNB4 1143 broad.mit.edu 37 15 78921980 78921980 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:78921980T>A uc002bed.1 - 5 779 c.667A>T c.(667-669)ACT>TCT p.T223S CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.T41S NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 223 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 AAGTCGTAAGTCACGTCCACG 0.552 15 65 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79298629 79298629 + Silent SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr15:79298629G>C uc002beq.2 - 15 2388 c.2013C>G c.(2011-2013)CTC>CTG p.L671L RASGRF1_uc002bep.2_Silent_p.L658L|RASGRF1_uc010blm.1_Silent_p.L580L|RASGRF1_uc002ber.3_Silent_p.L658L|RASGRF1_uc010unh.1_Silent_p.L66L NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 671 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GGAAGGTGTTGAGGAAGTCGA 0.567 10 62 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2813737 2813737 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:2813737G>C uc002crk.2 + 11 3757 c.3208G>C c.(3208-3210)GAT>CAT p.D1070H SRRM2_uc002crj.1_Missense_Mutation_p.D974H|SRRM2_uc002crl.1_Missense_Mutation_p.D1070H|SRRM2_uc010bsu.1_Missense_Mutation_p.D974H NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1070 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 CCACAGATCTGATACTTCAAG 0.463 18 81 --- --- --- --- PASS RSL1D1 26156 broad.mit.edu 37 16 11933713 11933713 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:11933713T>C uc002dbp.1 - 8 1058 c.985A>G c.(985-987)ACA>GCA p.T329A RSL1D1_uc010buv.1_Missense_Mutation_p.T328A|RSL1D1_uc010uyw.1_Missense_Mutation_p.T109A|RSL1D1_uc010buw.2_RNA NM_015659 NP_056474 O76021 RL1D1_HUMAN ribosomal L1 domain containing 1 329 regulation of protein localization|translation large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TTCTTCACTGTAGTATCACCA 0.323 34 163 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15841519 15841519 + Silent SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:15841519G>C uc002ddy.2 - 19 2426 c.2319C>G c.(2317-2319)GGC>GGG p.G773G MYH11_uc002ddv.2_Silent_p.G780G|MYH11_uc002ddw.2_Silent_p.G773G|MYH11_uc002ddx.2_Silent_p.G780G|MYH11_uc010bvg.2_Silent_p.G605G NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 773 Actin-binding (By similarity).|Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GGGCCAGGACGCCAGTTCGGA 0.502 T CBFB AML 15 57 --- --- --- --- PASS RBBP6 5930 broad.mit.edu 37 16 24582460 24582460 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:24582460A>G uc002dmh.2 + 18 5113 c.4073A>G c.(4072-4074)AAT>AGT p.N1358S RBBP6_uc002dmi.2_Missense_Mutation_p.N1324S|RBBP6_uc010bxr.2_Missense_Mutation_p.N518S|RBBP6_uc002dmk.2_Missense_Mutation_p.N1191S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 1358 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) AAGCCATCAAATATAGTCAAG 0.358 16 33 --- --- --- --- PASS NSMCE1 197370 broad.mit.edu 37 16 27238086 27238086 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:27238086G>A uc002doi.1 - 6 653 c.555C>T c.(553-555)CCC>CCT p.P185P NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 185 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 TCACCGCGTCGGGGTACGTCT 0.647 13 67 --- --- --- --- PASS TAOK2 9344 broad.mit.edu 37 16 29998067 29998067 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:29998067G>T uc002dva.1 + 16 3257 c.2474G>T c.(2473-2475)AGT>ATT p.S825I uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.S832I|TAOK2_uc002dvd.1_Missense_Mutation_p.S652I NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN TAO kinase 2 isoform 2 825 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGAGCCCCTAGTCCCAGTCCA 0.562 11 55 --- --- --- --- PASS HIRIP3 8479 broad.mit.edu 37 16 30006746 30006746 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:30006746G>C uc002dve.2 - 2 565 c.104C>G c.(103-105)GCT>GGT p.A35G uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Missense_Mutation_p.A35G NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 35 chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 GCCCGAGTGAGCTAAGTACCT 0.662 12 36 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30970167 30970167 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:30970167G>A uc002ead.1 + 2 801 c.115G>A c.(115-117)GTG>ATG p.V39M SETD1A_uc002eae.1_Missense_Mutation_p.V39M NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 39 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 TTCTCAGAAGGTGTACCGCTA 0.607 8 85 --- --- --- --- PASS SLC12A3 6559 broad.mit.edu 37 16 56902279 56902279 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:56902279G>T uc010ccm.2 + 3 529 c.500G>T c.(499-501)GGC>GTC p.G167V SLC12A3_uc002ekd.3_Missense_Mutation_p.G167V|SLC12A3_uc010ccn.2_Missense_Mutation_p.G166V NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 167 Helical; (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCCCAGGCAGGCATCGGTGAG 0.607 5 5 --- --- --- --- PASS KIAA0513 9764 broad.mit.edu 37 16 85100812 85100812 + Missense_Mutation SNP T G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr16:85100812T>G uc002fiu.2 + 2 355 c.135T>G c.(133-135)AGT>AGG p.S45R KIAA0513_uc002fis.3_Missense_Mutation_p.S45R|KIAA0513_uc010voj.1_Missense_Mutation_p.S45R|KIAA0513_uc002fit.2_Missense_Mutation_p.S45R NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 45 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) CATCAGAGAGTGAGACCACTG 0.642 9 14 --- --- --- --- PASS YWHAE 7531 broad.mit.edu 37 17 1265201 1265201 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:1265201A>G uc002fsj.2 - 3 518 c.366T>C c.(364-366)TAT>TAC p.Y122Y YWHAE_uc002fsk.2_Silent_p.Y100Y|YWHAE_uc010vqh.1_Intron|YWHAE_uc010vqi.1_Intron NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 122 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CCTACATTTTATAATAGAAAA 0.353 9 23 --- --- --- --- PASS DHX33 56919 broad.mit.edu 37 17 5357289 5357289 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:5357289C>G uc002gca.2 - 7 1161 c.1159G>C c.(1159-1161)GAG>CAG p.E387Q DHX33_uc002gbz.2_Missense_Mutation_p.E158Q|DHX33_uc002gcb.2_Missense_Mutation_p.E214Q|DHX33_uc010clf.2_Missense_Mutation_p.E163Q NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 387 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 GCTAACACCTCAAGACCACTG 0.532 6 23 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577022 7577022 + Nonsense_Mutation SNP G A A rs121913344 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:7577022G>A uc002gim.2 - 8 1110 c.916C>T c.(916-918)CGA>TGA p.R306* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 306 Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1. R -> Q (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R306*(99)|p.0?(7)|p.?(3)|p.R306R(2)|p.R306fs*39(2)|p.K305fs*1(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) TGCTTACCTCGCTTAGTGCTC 0.562 R306*(MFE296_ENDOMETRIUM)|R306*(HCC1937_BREAST)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 14 51 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10318686 10318686 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:10318686G>T uc002gmm.2 - 8 759 c.664C>A c.(664-666)CAA>AAA p.Q222K uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 222 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 CTGATGATTTGATCTTCCAGA 0.512 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 17 66 --- --- --- --- PASS ANKRD13B 124930 broad.mit.edu 37 17 27934886 27934886 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:27934886G>A uc002hei.2 + 2 354 c.241G>A c.(241-243)GGC>AGC p.G81S ANKRD13B_uc002heh.2_5'UTR|ANKRD13B_uc002hej.2_RNA NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 81 ANK 2. 0 GAATCGCAGCGGCTGGACAGG 0.692 7 29 --- --- --- --- PASS ITGB3 3690 broad.mit.edu 37 17 45368430 45368430 + Silent SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:45368430T>C uc002ilj.2 + 9 1256 c.1236T>C c.(1234-1236)TGT>TGC p.C412C ITGB3_uc002ili.1_Silent_p.C412C|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 412 Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) TCAAGTCTTGTATGGGACTCA 0.537 11 81 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901477 51901477 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:51901477G>A uc002iua.2 + 1 1239 c.1083G>A c.(1081-1083)GGG>GGA p.G361G uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 361 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGATTTATGGGGGCAAGGTGT 0.463 9 72 --- --- --- --- PASS USP32 84669 broad.mit.edu 37 17 58262956 58262956 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:58262956G>C uc002iyo.1 - 30 3985 c.3699C>G c.(3697-3699)ATC>ATG p.I1233M USP32_uc002iyn.1_Missense_Mutation_p.I903M NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 1233 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TGTCCAGGTTGATGGGCTCGG 0.542 14 42 --- --- --- --- PASS TTYH2 94015 broad.mit.edu 37 17 72218788 72218788 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr17:72218788C>T uc002jkc.2 + 2 325 c.294C>T c.(292-294)CTC>CTT p.L98L TTYH2_uc010wqw.1_Silent_p.L77L NM_032646 NP_116035 Q9BSA4 TTYH2_HUMAN tweety 2 isoform 1 98 Helical; Name=2; (Potential). chloride channel complex|plasma membrane chloride channel activity|protein binding ovary(3)|large_intestine(1) 4 TGGCCGGGCTCATCTGCTGGT 0.632 9 29 --- --- --- --- PASS MEX3C 51320 broad.mit.edu 37 18 48702952 48702952 + Silent SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:48702952A>G uc002lfc.3 - 2 1749 c.1749T>C c.(1747-1749)GGT>GGC p.G583G NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 583 cytoplasm|nucleus RNA binding|zinc ion binding lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) AACTATTGGTACCATTAGAAA 0.463 7 55 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 49867237 49867237 + Missense_Mutation SNP T G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:49867237T>G uc002lfe.1 + 1 667 c.80T>G c.(79-81)CTT>CGT p.L27R NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 27 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCGCGCATCTTCAAGTAACC 0.493 18 77 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50985708 50985708 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:50985708A>G uc002lfe.1 + 24 4086 c.3499A>G c.(3499-3501)AAG>GAG p.K1167E DCC_uc010dpf.1_Missense_Mutation_p.K802E NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1167 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAATATTGAAAAGCCATCTGG 0.532 25 72 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56247322 56247322 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:56247322C>A uc002lhj.3 - 4 900 c.686G>T c.(685-687)AGA>ATA p.R229I NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 229 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GTGGCAACATCTGTCTTGTTT 0.413 49 158 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64178906 64178906 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:64178906C>G uc002lkc.1 - 10 1613 c.1475G>C c.(1474-1476)AGT>ACT p.S492T CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 492 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) ATCCACTGCACTGATAGTCTG 0.313 14 95 --- --- --- --- PASS GALR1 2587 broad.mit.edu 37 18 74980688 74980688 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr18:74980688A>T uc002lms.3 + 3 1377 c.880A>T c.(880-882)AGC>TGC p.S294C NM_001480 NP_001471 P47211 GALR1_HUMAN galanin receptor 1 294 Cytoplasmic (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) CCTGGCGTACAGCAATTCCTC 0.488 22 75 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5778655 5778655 + Missense_Mutation SNP C A A rs17852929 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:5778655C>A uc002mda.2 + 22 2426 c.2365C>A c.(2365-2367)CGC>AGC p.R789S NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 789 Cytoplasmic (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGGACGCCACCGCACTCCTCA 0.582 16 36 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8130934 8130934 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:8130934G>A uc002mjf.2 - 63 8320 c.8299C>T c.(8299-8301)CGG>TGG p.R2767W FBN3_uc002mje.2_Missense_Mutation_p.R563W NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2767 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGCCCCGGCCGCCTCCGCCCC 0.682 5 80 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8203327 8203327 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:8203327C>T uc002mjf.2 - 8 1008 c.987G>A c.(985-987)CCG>CCA p.P329P NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 329 TB 2. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCTCAGGGACCGGGCCAGCTG 0.682 4 24 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9074309 9074309 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:9074309C>A uc002mkp.2 - 3 13341 c.13137G>T c.(13135-13137)ATG>ATT p.M4379I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4381 Thr-rich.|Extracellular (Potential).|Ser-rich. 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 AAGATTCTGTCATTATCAGAG 0.468 4 79 --- --- --- --- PASS PLVAP 83483 broad.mit.edu 37 19 17476301 17476301 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:17476301C>T uc002ngk.1 - 3 1023 c.973G>A c.(973-975)GTG>ATG p.V325M NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 325 Potential.|Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 TCCTTCTCCACCTTCTGTTTC 0.657 9 45 --- --- --- --- PASS B3GNT3 10331 broad.mit.edu 37 19 17918984 17918984 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:17918984G>A uc002nhk.1 + 2 453 c.368G>A c.(367-369)CGC>CAC p.R123H B3GNT3_uc002nhl.1_Missense_Mutation_p.R123H|B3GNT3_uc010ebd.1_Missense_Mutation_p.R123H|B3GNT3_uc010ebe.1_Missense_Mutation_p.R123H NM_014256 NP_055071 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal 123 Lumenal (Potential). protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity upper_aerodigestive_tract(1) 1 TATGTGCGCCGCGAGCTGCTG 0.682 6 20 --- --- --- --- PASS GMIP 51291 broad.mit.edu 37 19 19746283 19746283 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:19746283C>A uc002nnd.2 - 15 1618 c.1501G>T c.(1501-1503)GGC>TGC p.G501C GMIP_uc010xrb.1_Missense_Mutation_p.G475C|GMIP_uc010xrc.1_Missense_Mutation_p.G472C NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 501 Phorbol-ester/DAG-type. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 TTGGCTGGGCCCCGCAGTCGC 0.647 10 40 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363818 22363818 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:22363818A>T uc002nqs.1 - 3 1019 c.701T>A c.(700-702)TTT>TAT p.F234Y NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 234 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGATCGATTAAAAGCTTTGCC 0.368 20 118 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44792469 44792469 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:44792469C>G uc002oza.3 - 5 1222 c.1119G>C c.(1117-1119)AAG>AAC p.K373N ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.K369N|ZNF235_uc010xwx.1_Missense_Mutation_p.K287N NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) ATCTATAGGGCTTCTCTCCTG 0.448 13 48 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47422517 47422517 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:47422517A>G uc010ekv.2 + 1 585 c.585A>G c.(583-585)ATA>ATG p.I195M NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 195 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) AAAAGCCCATAGTGGTGGTCC 0.433 15 41 --- --- --- --- PASS SLC6A16 28968 broad.mit.edu 37 19 49813646 49813646 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:49813646G>A uc002pmz.2 - 3 771 c.537C>T c.(535-537)GCC>GCT p.A179A SLC6A16_uc002pna.2_Silent_p.A179A|hsa-mir-4324|MI0015854_5'Flank NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 179 Helical; Name=2; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CAATCCAGGGGGCAATGATCT 0.577 4 21 --- --- --- --- PASS KLK2 3817 broad.mit.edu 37 19 51379830 51379830 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:51379830G>C uc002ptv.2 + 3 350 c.309G>C c.(307-309)ATG>ATC p.M103I KLK2_uc010eog.2_Missense_Mutation_p.M1I|KLK2_uc010yck.1_Missense_Mutation_p.M103I|KLK2_uc002ptu.2_Missense_Mutation_p.M103I|KLK2_uc002ptt.2_RNA|KLK2_uc010ycl.1_Missense_Mutation_p.M86I|KLK2_uc010ycm.1_Missense_Mutation_p.M1I|KLK2_uc010eoh.2_Missense_Mutation_p.M1I NM_005551 NP_005542 P20151 KLK2_HUMAN kallikrein 2, prostatic isoform 1 103 Peptidase S1. proteolysis serine-type endopeptidase activity ovary(1)|skin(1) 2 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) TCTACAATATGAGCCTTCTGA 0.552 T ETV4 prostate 14 34 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51920564 51920564 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:51920564T>A uc002pwo.2 - 2 809 c.193A>T c.(193-195)ACT>TCT p.T65S SIGLEC10_uc002pwp.2_Missense_Mutation_p.T65S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T65S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T65S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T65S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T65S|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Missense_Mutation_p.T49S NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 65 Extracellular (Potential).|Ig-like V-type. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GTTGTCTCAGTCACTGCTTTG 0.602 12 43 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51958760 51958760 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:51958760C>T uc002pwt.2 - 4 1030 c.963G>A c.(961-963)AGG>AGA p.R321R SIGLEC8_uc010yda.1_Silent_p.R212R|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.R228R NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 321 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CCCCTTCATCCCTCACGTGCA 0.642 9 44 --- --- --- --- PASS ZNF534 147658 broad.mit.edu 37 19 52941413 52941413 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:52941413C>G uc002pzk.2 + 4 800 c.739C>G c.(739-741)CGA>GGA p.R247G ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.R234G NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 247 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACAACATCAACGAATCCATAC 0.373 13 49 --- --- --- --- PASS ZNF415 55786 broad.mit.edu 37 19 53612105 53612105 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:53612105C>A uc002qax.2 - 7 1686 c.1337G>T c.(1336-1338)AGC>ATC p.S446I ZNF415_uc002qat.2_Missense_Mutation_p.S410I|ZNF415_uc002qaw.2_Missense_Mutation_p.S398I|ZNF415_uc010yds.1_Missense_Mutation_p.S398I|ZNF415_uc010ydt.1_Missense_Mutation_p.S398I|ZNF415_uc002qau.2_Missense_Mutation_p.S385I|ZNF415_uc002qav.2_Missense_Mutation_p.S410I|ZNF415_uc002qba.2_Missense_Mutation_p.S168I|ZNF415_uc002qay.2_Missense_Mutation_p.S385I|ZNF415_uc002qaz.2_Missense_Mutation_p.S446I NR_028343 Q09FC8 ZN415_HUMAN RecName: Full=Zinc finger protein 415; 446 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.0191) CCTTGCAAGGCTTGAAGTCTG 0.418 16 53 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086951 55086951 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:55086951G>T uc002qgg.3 + 5 973 c.884G>T c.(883-885)TGC>TTC p.C295F LILRA2_uc010ern.2_Missense_Mutation_p.C295F|LILRA2_uc002qgf.2_Missense_Mutation_p.C295F|LILRA2_uc010yfe.1_Missense_Mutation_p.C295F|LILRA2_uc010yff.1_Missense_Mutation_p.C283F|LILRA2_uc010ero.2_Missense_Mutation_p.C283F|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 295 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CAGTACAGATGCTACAGTGCA 0.667 26 49 --- --- --- --- PASS RPL28 6158 broad.mit.edu 37 19 55899328 55899328 + Missense_Mutation SNP G T T rs34259396 byFrequency TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:55899328G>T uc002qkv.2 + 4 278 c.236G>T c.(235-237)CGG>CTG p.R79L RPL28_uc010yga.1_Missense_Mutation_p.R79L|RPL28_uc010ygb.1_Missense_Mutation_p.R79L|RPL28_uc002qkw.1_3'UTR NM_000991 NP_000982 P46779 RL28_HUMAN ribosomal protein L28 isoform 2 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TCCTATGTGCGGACCACCATC 0.612 51 83 --- --- --- --- PASS USP29 57663 broad.mit.edu 37 19 57642610 57642610 + Missense_Mutation SNP A G G rs117302403 byFrequency TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr19:57642610A>G uc002qny.2 + 4 2923 c.2567A>G c.(2566-2568)TAC>TGC p.Y856C NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 856 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 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;0.026) TGGTTCACATACAACGATCTA 0.448 5 41 --- --- --- --- PASS C20orf46 55321 broad.mit.edu 37 20 1161626 1161626 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:1161626C>T uc010gaa.1 - 3 856 c.637G>A c.(637-639)GGC>AGC p.G213S C20orf46_uc002weq.1_Missense_Mutation_p.G213S NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 213 integral to membrane protein binding ovary(1) 1 GAGCCCTTGCCGGGGACGAAG 0.637 12 53 --- --- --- --- PASS ATRN 8455 broad.mit.edu 37 20 3515969 3515969 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:3515969G>T uc002wim.2 + 2 570 c.480G>T c.(478-480)TGG>TGT p.W160C ATRN_uc002wil.2_Missense_Mutation_p.W160C NM_139321 NP_647537 O75882 ATRN_HUMAN attractin isoform 1 160 Extracellular (Potential).|CUB. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding ovary(1)|breast(1) 2 AGTGCACGTGGCTCATTGAAG 0.333 7 26 --- --- --- --- PASS PRNP 5621 broad.mit.edu 37 20 4680300 4680300 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:4680300A>G uc002wku.2 + 2 797 c.434A>G c.(433-435)TAT>TGT p.Y145C PRNP_uc002wkv.2_Missense_Mutation_p.Y145C|PRNP_uc002wkw.2_Missense_Mutation_p.Y145C|PRNP_uc002wkx.2_Missense_Mutation_p.Y145C|PRNP_uc002wkt.1_Missense_Mutation_p.Y115C|PRNP_uc002wky.2_Missense_Mutation_p.Y145C|PRNP_uc010gbe.1_Missense_Mutation_p.Y145C NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 145 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(1) 1 Tetracycline(DB00759) GGCAGTGACTATGAGGACCGT 0.552 7 27 --- --- --- --- PASS TMX4 56255 broad.mit.edu 37 20 7963097 7963097 + Missense_Mutation SNP T A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:7963097T>A uc002wmx.1 - 8 984 c.851A>T c.(850-852)AAC>ATC p.N284I NM_021156 NP_066979 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 284 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane 0 AGCAGCCAAGTTGtcctcctc 0.313 16 64 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20232288 20232288 + Missense_Mutation SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:20232288G>A uc002wru.2 + 20 2285 c.2209G>A c.(2209-2211)GTT>ATT p.V737I C20orf26_uc010zse.1_Missense_Mutation_p.V717I|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.V93I NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 737 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GTGCTCCTGGGTTAATGTCGT 0.522 25 109 --- --- --- --- PASS GGTLC1 92086 broad.mit.edu 37 20 23966372 23966372 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:23966372C>T uc002wts.2 - 5 596 c.463G>A c.(463-465)GTG>ATG p.V155M GGTLC1_uc002wtu.2_Missense_Mutation_p.V155M NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 155 gamma-glutamyltransferase activity ovary(1) 1 GGCTCCTCCACGGCCCACTTC 0.612 14 84 --- --- --- --- PASS STK4 6789 broad.mit.edu 37 20 43623803 43623803 + Nonsense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:43623803G>T uc002xnb.2 + 6 688 c.598G>T c.(598-600)GGA>TGA p.G200* STK4_uc010ggx.2_Nonsense_Mutation_p.G200*|STK4_uc010ggy.2_Nonsense_Mutation_p.G145*|STK4_uc010ggw.1_Nonsense_Mutation_p.G200* NM_006282 NP_006273 Q13043 STK4_HUMAN serine/threonine kinase 4 200 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding ovary(1)|skin(1) 2 Myeloproliferative disorder(115;0.0122) TCAGGAAATTGGATACAACTG 0.453 14 68 --- --- --- --- PASS APCDD1L 164284 broad.mit.edu 37 20 57042222 57042222 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:57042222G>T uc002xze.1 - 3 867 c.681C>A c.(679-681)GAC>GAA p.D227E APCDD1L_uc010zzp.1_Missense_Mutation_p.D238E NM_153360 NP_699191 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 227 integral to membrane ovary(1) 1 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) TCTCCGCCGGGTCGGTGTGGA 0.731 3 22 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57828032 57828032 + Splice_Site SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:57828032G>T uc002yan.2 + 4 4028 c.4028_splice c.e4-1 p.G1343_splice NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCCCCTTGCAGGTCTGAATCT 0.463 11 23 --- --- --- --- PASS PHACTR3 116154 broad.mit.edu 37 20 58342370 58342370 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:58342370C>T uc002yau.2 + 5 1138 c.671C>T c.(670-672)TCC>TTC p.S224F PHACTR3_uc002yat.2_Missense_Mutation_p.S221F|PHACTR3_uc010zzw.1_Missense_Mutation_p.S183F|PHACTR3_uc002yav.2_Missense_Mutation_p.S183F|PHACTR3_uc002yaw.2_Missense_Mutation_p.S183F|PHACTR3_uc002yax.2_Intron NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 224 Pro-rich. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTGGAGAGATCCGTGGGCCAG 0.622 9 30 --- --- --- --- PASS NTSR1 4923 broad.mit.edu 37 20 61340778 61340778 + Silent SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:61340778C>T uc002ydf.2 + 1 590 c.219C>T c.(217-219)CTC>CTT p.L73L NM_002531 NP_002522 P30989 NTR1_HUMAN neurotensin receptor 1 73 Helical; Name=1; (Potential). endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled skin(2)|lung(1)|central_nervous_system(1) 4 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) ACCTGGCGCTCTTCGTGGTGG 0.662 4 20 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62851172 62851172 + Missense_Mutation SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr20:62851172C>G uc002yii.2 + 13 2442 c.2078C>G c.(2077-2079)CCC>CGC p.P693R MYT1_uc002yih.2_Missense_Mutation_p.P395R|MYT1_uc002yij.2_Missense_Mutation_p.P352R NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 693 Ser-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) agcagcagcCCCGGTGTGAAG 0.537 4 22 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22652925 22652925 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr21:22652925G>C uc002yld.1 + 2 332 c.83G>C c.(82-84)AGC>ACC p.S28T NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.S53T NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 28 Ig-like C2-type 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATTTCACTTAGCAAAGTAGAG 0.308 7 22 --- --- --- --- PASS KRTAP6-3 337968 broad.mit.edu 37 21 31964914 31964914 + Silent SNP C G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr21:31964914C>G uc002yom.2 + 1 156 c.150C>G c.(148-150)GGC>GGG p.G50G NM_181605 NP_853636 keratin associated protein 6-3 0 tgggctttggctatggaggcc 0.050 6 18 --- --- --- --- PASS SH3BGR 6450 broad.mit.edu 37 21 40824044 40824044 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr21:40824044G>T uc002yya.2 + 1 265 c.211G>T c.(211-213)GCT>TCT p.A71S SH3BGR_uc002yxz.2_Intron NM_007341 NP_031367 P55822 SH3BG_HUMAN SH3-binding domain and glutamic acid-rich 71 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity 0 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) AGTGTTTGTTGCTACATCTTC 0.483 41 146 --- --- --- --- PASS KRTAP10-8 386681 broad.mit.edu 37 21 46032517 46032517 + Missense_Mutation SNP T C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr21:46032517T>C uc002zfo.1 + 1 522 c.500T>C c.(499-501)GTG>GCG p.V167A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 167 19 X 5 AA repeats of C-C-X(3).|11. keratin filament large_intestine(1)|breast(1) 2 GCCTGCTGTGTGCCCATCTGC 0.617 44 183 --- --- --- --- PASS KRTAP10-8 386681 broad.mit.edu 37 21 46032668 46032668 + Missense_Mutation SNP C G G rs139387695 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr21:46032668C>G uc002zfo.1 + 1 673 c.651C>G c.(649-651)TGC>TGG p.C217W C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 217 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 gccctgtgtgccggcctgcct 0.274 15 56 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17468980 17468980 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:17468980G>T uc002zlw.2 - 3 664 c.556C>A c.(556-558)CTC>ATC p.L186I GAB4_uc010gqs.1_Missense_Mutation_p.L169I NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 186 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCTTGGGGGAGGTGCTGATGG 0.612 7 17 --- --- --- --- PASS CECR5 27440 broad.mit.edu 37 22 17619472 17619472 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:17619472C>A uc002zmf.2 - 7 931 c.903G>T c.(901-903)TGG>TGT p.W301C CECR5_uc002zmd.2_Missense_Mutation_p.W112C|CECR5_uc002zme.2_Missense_Mutation_p.W93C|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.W271C NM_033070 NP_149061 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 301 hydrolase activity 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) TGGGGGCGGCCCAGCCCCGCC 0.602 28 121 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19865642 19865642 + Missense_Mutation SNP T G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:19865642T>G uc011ahc.1 - 16 1449 c.1416A>C c.(1414-1416)GAA>GAC p.E472D TXNRD2_uc002zql.1_Missense_Mutation_p.E226D|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.E471D|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.E122D NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 472 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) CTTGAGTAACTTCGCCTGCGT 0.602 8 20 --- --- --- --- PASS ZNF280A 129025 broad.mit.edu 37 22 22869016 22869016 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:22869016C>A uc002zwe.2 - 2 1192 c.939G>T c.(937-939)ATG>ATT p.M313I LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TCATGTGATTCATAAACTTAA 0.473 20 89 --- --- --- --- PASS HPS4 89781 broad.mit.edu 37 22 26860679 26860679 + Missense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:26860679C>A uc003acl.2 - 11 1576 c.917G>T c.(916-918)TGG>TTG p.W306L HPS4_uc003aci.2_Missense_Mutation_p.W301L|HPS4_uc003acj.2_Missense_Mutation_p.W170L|HPS4_uc003ack.2_Missense_Mutation_p.W97L|HPS4_uc003acn.2_Missense_Mutation_p.W152L|HPS4_uc010gvd.1_Missense_Mutation_p.W324L|HPS4_uc003ach.2_Missense_Mutation_p.W41L NM_022081 NP_071364 Q9NQG7 HPS4_HUMAN light ear protein isoform a 306 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity 0 TGGGGTGGTCCAGGCCATGGA 0.587 Hermansky-Pudlak_syndrome 3 43 --- --- --- --- PASS MN1 4330 broad.mit.edu 37 22 28196401 28196401 + Missense_Mutation SNP G C C TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:28196401G>C uc003adj.2 - 1 1086 c.131C>G c.(130-132)CCC>CGC p.P44R NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 44 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 AGGGCCAGGGGGCCCCCCAGT 0.642 T ETV6 AML|meningioma 8 71 --- --- --- --- PASS SLC5A4 6527 broad.mit.edu 37 22 32625228 32625228 + Silent SNP G A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:32625228G>A uc003ami.2 - 11 1235 c.1233C>T c.(1231-1233)ACC>ACT p.T411T NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 411 Extracellular (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 TCCGCATCTTGGTGTAGAGGT 0.552 25 68 --- --- --- --- PASS SREBF2 6721 broad.mit.edu 37 22 42262852 42262852 + Missense_Mutation SNP A G G TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr22:42262852A>G uc003bbi.2 + 2 275 c.106A>G c.(106-108)AGT>GGT p.S36G WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 36 Transcriptional activation (acidic).|Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 GCAATTTGTCAGTAATCAAGT 0.348 29 137 --- --- --- --- PASS TLR7 51284 broad.mit.edu 37 X 12905134 12905134 + Missense_Mutation SNP A T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:12905134A>T uc004cvc.2 + 3 1646 c.1507A>T c.(1507-1509)AAT>TAT p.N503Y NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 503 Extracellular (Potential).|LRR 16. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TCTAAGTAAAAATAGTATATT 0.368 38 74 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148709 34148709 + Missense_Mutation SNP C T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:34148709C>T uc004ddg.2 - 1 1720 c.1687G>A c.(1687-1689)GCT>ACT p.A563T NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 563 ovary(4)|central_nervous_system(1) 5 GACTCTGGAGCTTTGGGAGGC 0.562 3 27 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78011260 78011260 + Nonsense_Mutation SNP C A A TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:78011260C>A uc010nme.2 + 2 1299 c.894C>A c.(892-894)TGC>TGA p.C298* NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 298 Helical; Name=7; (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 TCACCTTGTGCCTTGCAACTC 0.423 20 29 --- --- --- --- PASS PCDH19 57526 broad.mit.edu 37 X 99662244 99662244 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:99662244G>T uc010nmz.2 - 1 3028 c.1352C>A c.(1351-1353)CCG>CAG p.P451Q PCDH19_uc004efw.3_Missense_Mutation_p.P451Q|PCDH19_uc004efx.3_Missense_Mutation_p.P451Q NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GGAAAAGTGCGGGTGGTTGTC 0.572 22 27 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110653548 110653548 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:110653548G>T uc004epd.2 - 2 494 c.322C>A c.(322-324)CCT>ACT p.P108T DCX_uc011msv.1_Missense_Mutation_p.P108T|DCX_uc004epe.2_Missense_Mutation_p.P27T|DCX_uc004epf.2_Missense_Mutation_p.P27T|DCX_uc004epg.2_Missense_Mutation_p.P27T NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 108 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 GTGGGGCTAGGCAACCCATTC 0.493 28 38 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111155954 111155954 + Nonsense_Mutation SNP G T T rs141725174 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:111155954G>T uc004epl.1 - 3 1384 c.465C>A c.(463-465)TAC>TAA p.Y155* TRPC5_uc004epm.1_Nonsense_Mutation_p.Y155* NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 155 Cytoplasmic (Potential).|ANK 4. axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 TGATGATTTCGTAGTTGTTGG 0.507 11 19 --- --- --- --- PASS PASD1 139135 broad.mit.edu 37 X 150844595 150844595 + Missense_Mutation SNP G T T TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chrX:150844595G>T uc004fev.3 + 16 2634 c.2302G>T c.(2302-2304)GAC>TAC p.D768Y NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 768 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGAGCAACGTGACTCAAATAA 0.567 15 20 --- --- --- --- PASS TBP 6908 broad.mit.edu 37 6 170871013 170871014 + In_Frame_Ins INS - CAG CAG rs72320253 TCGA-22-5489-01A-01D-1632-08 TCGA-22-5489-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx c4eb6681-7ec3-4688-b06a-c47a0043f3fb f5eb9711-2dc9-4a87-b27b-784ffccaa8fd g.chr6:170871013_170871014insCAG uc003qxt.2 + 3 421_422 c.189_190insCAG c.(187-192)insCAG p.95_96insQ TBP_uc003qxu.2_In_Frame_Ins_p.95_96insQ|TBP_uc011ehf.1_In_Frame_Ins_p.75_76insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 95_96 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacaacaacagcagcagca 0.183 32 24 --- --- --- ---