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 PRAMEF2 65122 broad.mit.edu 37 1 12921409 12921409 + Silent SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:12921409C>T uc001aum.1 + 4 1287 c.1200C>T c.(1198-1200)CAC>CAT p.H400H NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 400 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;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGCTGCGCCACACCAGTGGGC 0.557 22 58 --- --- --- --- PASS SFRS11 9295 broad.mit.edu 37 1 70703197 70703197 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:70703197G>C uc001des.2 + 7 804 c.680G>C c.(679-681)CGA>CCA p.R227P SFRS11_uc001det.2_Missense_Mutation_p.R227P|SFRS11_uc001deu.2_Missense_Mutation_p.R227P|SFRS11_uc001dev.2_Missense_Mutation_p.R37P|SFRS11_uc001dew.2_Missense_Mutation_p.R167P NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 227 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 AAAAGAGTACGAGAAGCACAG 0.368 12 34 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86961341 86961341 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:86961341C>A uc001dlt.2 + 12 2225 c.2096C>A c.(2095-2097)CCT>CAT p.P699H NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 699 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CTGTACATACCTGGCTGGATT 0.433 8 15 --- --- --- --- PASS S1PR1 1901 broad.mit.edu 37 1 101705192 101705192 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:101705192G>T uc001dud.2 + 2 1166 c.652G>T c.(652-654)GTC>TTC p.V218F S1PR1_uc009weg.2_Missense_Mutation_p.V218F NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 218 Helical; Name=5; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 GCTCTCCATCGTCATTCTGTA 0.567 27 60 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152127903 152127903 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:152127903G>C uc001ezs.1 - 3 1737 c.1672C>G c.(1672-1674)CAC>GAC p.H558D NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 558 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 TGACCGTAGTGGGAACTCTGG 0.507 166 694 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158632635 158632635 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:158632635C>A uc001fst.1 - 17 2520 c.2321G>T c.(2320-2322)CGA>CTA p.R774L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 774 Spectrin 8. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCTTCAAATCGGCATACCAA 0.478 9 63 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159275988 159275988 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:159275988G>T uc001ftq.2 + 5 641 c.542G>T c.(541-543)TGG>TTG p.W181L NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 181 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GGCAAAGTGTGGCAGCTGGAC 0.453 39 33 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159275989 159275989 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:159275989G>T uc001ftq.2 + 5 642 c.543G>T c.(541-543)TGG>TGT p.W181C NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 181 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GCAAAGTGTGGCAGCTGGACT 0.453 41 32 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159277608 159277608 + Silent SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:159277608A>G uc001ftq.2 + 6 759 c.660A>G c.(658-660)ACA>ACG p.T220T NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 220 Helical; (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CTGTGGACACAGGATTATTTA 0.438 24 100 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160064847 160064847 + Missense_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:160064847T>A uc001fva.2 - 2 299 c.254A>T c.(253-255)CAG>CTG p.Q85L IGSF8_uc001fuz.2_Missense_Mutation_p.Q85L|IGSF8_uc009wtf.2_Missense_Mutation_p.Q85L NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 85 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATAGGAGAACTGGGTATCCTT 0.597 43 29 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197411333 197411333 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:197411333T>C uc001gtz.2 + 11 4051 c.3916T>C c.(3916-3918)TGT>CGT p.C1306R CRB1_uc010poz.1_Missense_Mutation_p.C1282R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.C1194R|CRB1_uc010ppb.1_Missense_Mutation_p.C770R|CRB1_uc010ppd.1_Missense_Mutation_p.C787R|CRB1_uc001gub.1_3'UTR NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1306 Extracellular (Potential).|EGF-like 19; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTCTGATCCGTGTGTCAATGG 0.493 95 97 --- --- --- --- PASS PTPN7 5778 broad.mit.edu 37 1 202128422 202128422 + Nonsense_Mutation SNP G A A rs149516769 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:202128422G>A uc001gxm.1 - 2 240 c.109C>T c.(109-111)CGA>TGA p.R37* PTPN7_uc001gxl.1_Nonsense_Mutation_p.R76*|PTPN7_uc001gxn.1_Nonsense_Mutation_p.R37*|PTPN7_uc010ppv.1_5'UTR|PTPN7_uc010ppw.1_Silent_p.C2C|PTPN7_uc010ppx.1_Nonsense_Mutation_p.R111*|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_5'Flank NM_002832 NP_002823 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 37 cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity skin(1) 1 TCCTGCAGTCGCACATGCTTC 0.632 6 30 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235345290 235345290 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr1:235345290C>A uc001hwq.2 - 20 3442 c.2944G>T c.(2944-2946)GTA>TTA p.V982L ARID4B_uc001hwr.2_Missense_Mutation_p.V896L|ARID4B_uc001hws.3_Missense_Mutation_p.V896L|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.V663L NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 982 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCTAGTTCTACACTGGGTGAA 0.498 33 149 --- --- --- --- PASS RSAD2 91543 broad.mit.edu 37 2 7027158 7027158 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:7027158G>A uc002qyp.1 + 3 737 c.601G>A c.(601-603)GTG>ATG p.V201M NM_080657 NP_542388 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 201 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GAAGAACCATGTGGAAAACCT 0.448 14 38 --- --- --- --- PASS TMEM178 130733 broad.mit.edu 37 2 39944267 39944267 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:39944267C>T uc002rrt.2 + 4 795 c.770C>T c.(769-771)TCC>TTC p.S257F TMEM178_uc010fam.1_Missense_Mutation_p.S211F NM_152390 NP_689603 Q8NBL3 TM178_HUMAN transmembrane protein 178 precursor 257 Extracellular (Potential). integral to membrane 0 all_hematologic(82;0.248) TACAGCTGGTCCATCTTTTGC 0.488 62 62 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656327 40656327 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:40656327C>A uc002rrx.2 - 1 1118 c.1094G>T c.(1093-1095)CGC>CTC p.R365L SLC8A1_uc002rry.2_Missense_Mutation_p.R365L|SLC8A1_uc002rrz.2_Missense_Mutation_p.R365L|SLC8A1_uc002rsa.2_Missense_Mutation_p.R365L|SLC8A1_uc002rsd.3_Missense_Mutation_p.R365L|SLC8A1_uc002rsb.1_Missense_Mutation_p.R365L|SLC8A1_uc010fan.1_Missense_Mutation_p.R365L|SLC8A1_uc002rsc.1_Missense_Mutation_p.R365L NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 365 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGCTTGAATGCGATAAAATGC 0.428 23 133 --- --- --- --- PASS SPRED2 200734 broad.mit.edu 37 2 65541258 65541258 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:65541258C>G uc002sdr.3 - 6 1169 c.634G>C c.(634-636)GAG>CAG p.E212Q SPRED2_uc010fcw.2_Missense_Mutation_p.E209Q NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 212 KBD. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 ACGATCTCCTCGTCGTCGTCC 0.597 16 26 --- --- --- --- PASS TGOLN2 10618 broad.mit.edu 37 2 85553695 85553695 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:85553695G>A uc010fgd.1 - 2 1449 c.1160C>T c.(1159-1161)GCA>GTA p.A387V TGOLN2_uc002soz.2_Missense_Mutation_p.A387V|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.A329V|TGOLN2_uc002spc.1_Missense_Mutation_p.A387V NM_006464 NP_006455 O43493 TGON2_HUMAN trans-golgi network protein 2 387 Helical; (Potential). integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding 0 CACCAGATATGCAAAGAAGTG 0.547 58 46 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159481743 159481743 + Silent SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:159481743G>C uc002tzv.2 + 7 1217 c.957G>C c.(955-957)ACG>ACC p.T319T PKP4_uc002tzt.1_Silent_p.T171T|PKP4_uc002tzu.2_Silent_p.T319T|PKP4_uc002tzw.2_Silent_p.T319T|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Silent_p.T317T|PKP4_uc002uaa.2_Silent_p.T171T NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 319 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TGACCCTGACGGATGCACAGA 0.627 HNSCC(62;0.18) 15 39 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179446758 179446758 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:179446758C>G uc010zfg.1 - 264 58858 c.58634G>C c.(58633-58635)AGA>ACA p.R19545T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13240T|TTN_uc010zfi.1_Missense_Mutation_p.R13173T|TTN_uc010zfj.1_Missense_Mutation_p.R13048T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20472 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) TTTTAATGTTCTTTCTATAAT 0.448 43 108 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179569457 179569457 + Silent SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:179569457A>G uc010zfg.1 - 102 26234 c.26010T>C c.(26008-26010)GAT>GAC p.D8670D TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.D5331D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9597 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) CAGCATCATTATCTTTCAAAA 0.318 14 21 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179718286 179718286 + Nonsense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:179718286G>T uc002unf.1 - 10 1458 c.1401C>A c.(1399-1401)TGC>TGA p.C467* NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 467 protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCTTTGTCTTGCACTCTGTGG 0.413 17 48 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187693346 187693346 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:187693346C>A uc002upu.1 - 9 1307 c.1267G>T c.(1267-1269)GAT>TAT p.D423Y NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 423 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATAAAAAGATCTGGTTCTTTC 0.338 25 32 --- --- --- --- PASS SF3B1 23451 broad.mit.edu 37 2 198262836 198262836 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:198262836C>A uc002uue.2 - 22 3187 c.3139G>T c.(3139-3141)GCT>TCT p.A1047S NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 1047 HEAT 8. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) ACATATTCAGCTCCCCTAATT 0.323 27 71 --- --- --- --- PASS HSPD1 3329 broad.mit.edu 37 2 198361921 198361921 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:198361921C>G uc002uui.2 - 3 507 c.370G>C c.(370-372)GCC>CCC p.A124P HSPD1_uc002uuj.2_Missense_Mutation_p.A124P|HSPD1_uc010zgx.1_Missense_Mutation_p.A124P|HSPD1_uc010fsm.2_Intron|HSPD1_uc002uuk.2_Missense_Mutation_p.A124P|HSPD1_uc010zgy.1_Missense_Mutation_p.A124P|HSPE1_uc002uul.2_5'Flank NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 124 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) CCTTCCTTGGCTATAGAGCGT 0.443 24 49 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206023531 206023531 + Missense_Mutation SNP C T T rs149158367 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:206023531C>T uc002var.1 + 11 1727 c.1520C>T c.(1519-1521)GCT>GTT p.A507V PARD3B_uc010fub.1_Missense_Mutation_p.A507V|PARD3B_uc002vao.1_Missense_Mutation_p.A507V|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.A507V NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 507 PDZ 3. cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TCAGGTTCTGCTGGCCTCGGG 0.483 34 65 --- --- --- --- PASS DNER 92737 broad.mit.edu 37 2 230272008 230272008 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr2:230272008C>G uc002vpv.2 - 10 1810 c.1663G>C c.(1663-1665)GGA>CGA p.G555R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 555 Extracellular (Potential).|Follistatin-like.|EGF-like 9. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CAGGTGGCTCCGTTCAGACAG 0.512 13 70 --- --- --- --- PASS ABHD6 57406 broad.mit.edu 37 3 58279428 58279428 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:58279428C>T uc003djs.3 + 9 1360 c.950C>T c.(949-951)GCC>GTC p.A317V ABHD6_uc003djr.2_Missense_Mutation_p.A318V|ABHD6_uc003djt.3_Missense_Mutation_p.A317V NM_020676 NP_065727 Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 317 Cytoplasmic (Potential). integral to membrane acylglycerol lipase activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) AGGAAGACAGCCAAGCTCATA 0.517 16 8 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96533582 96533582 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:96533582G>A uc010how.1 + 1 158 c.115G>A c.(115-117)GGG>AGG p.G39R EPHA6_uc003drp.1_Missense_Mutation_p.G39R NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a Error:Variant_position_missing_in_Q9UF33_after_alignment integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CCCTGTTCCCGGGACCTCGCG 0.637 5 15 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100373989 100373989 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:100373989C>T uc003duc.2 + 12 1958 c.1690C>T c.(1690-1692)CGG>TGG p.R564W GPR128_uc011bhc.1_Missense_Mutation_p.R265W|GPR128_uc003dud.2_Missense_Mutation_p.R87W NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 564 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 GCCTCTTCCTCGGCATTTCAT 0.383 18 84 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108300348 108300348 + Missense_Mutation SNP C G G rs138065901 byFrequency TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:108300348C>G uc003dxb.3 - 5 732 c.463G>C c.(463-465)GAA>CAA p.E155Q KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 155 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 AACTCATCTTCAGAAGATTGA 0.284 5 34 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357186 112357186 + Nonsense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:112357186C>A uc003dzf.2 - 2 1785 c.1567G>T c.(1567-1569)GAG>TAG p.E523* CCDC80_uc011bhv.1_Nonsense_Mutation_p.E523*|CCDC80_uc003dzg.2_Nonsense_Mutation_p.E523*|CCDC80_uc003dzh.1_Nonsense_Mutation_p.E523* NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 523 Lys-rich. ovary(2) 2 ACCTGCAGCTCGTCCTCCAGC 0.408 25 57 --- --- --- --- PASS SLC12A8 84561 broad.mit.edu 37 3 124807181 124807181 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:124807181A>T uc003ehv.3 - 13 2066 c.1955T>A c.(1954-1956)ATG>AAG p.M652K SLC12A8_uc003ehw.3_Missense_Mutation_p.M681K|SLC12A8_uc003eht.3_Missense_Mutation_p.M453K|SLC12A8_uc003ehu.3_Missense_Mutation_p.M405K|SLC12A8_uc010hry.2_Intron NM_024628 NP_078904 A0AV02 S12A8_HUMAN solute carrier family 12, member 8 652 potassium ion transport integral to membrane symporter activity 0 GAGAGACCTCATCCACCGGAA 0.498 16 32 --- --- --- --- PASS PODXL2 50512 broad.mit.edu 37 3 127379397 127379397 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:127379397G>C uc003ejq.2 + 3 550 c.526G>C c.(526-528)GAA>CAA p.E176Q NM_015720 NP_056535 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 precursor 176 Extracellular (Potential).|Glu-rich. leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding ovary(1)|central_nervous_system(1) 2 gagggagaaggaagaggtaga 0.333 10 33 --- --- --- --- PASS TXNDC6 347736 broad.mit.edu 37 3 138025270 138025270 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:138025270G>T uc003esg.2 - 7 541 c.513C>A c.(511-513)GCC>GCA p.A171A TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Silent_p.A86A|TXNDC6_uc003ese.1_Silent_p.A110A NM_178130 NP_835231 Q86XW9 TXND6_HUMAN thioredoxin domain containing 6 171 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity breast(3)|ovary(1)|pancreas(1) 5 TCTTTCCATGGGCCACTGCAT 0.463 20 41 --- --- --- --- PASS NMD3 51068 broad.mit.edu 37 3 160952598 160952598 + Silent SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:160952598A>G uc003feb.1 + 6 560 c.441A>G c.(439-441)GTA>GTG p.V147V NMD3_uc003fec.2_Silent_p.V147V|NMD3_uc003fed.1_Silent_p.V147V|NMD3_uc010hwh.2_5'Flank NM_015938 NP_057022 Q96D46 NMD3_HUMAN NMD3 homolog 147 protein transport cytoplasm|nucleolus|nucleoplasm ovary(1) 1 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) GCCATAGAGTAGAAGCTAAGG 0.383 18 67 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165547449 165547449 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:165547449C>A uc003fem.3 - 2 1533 c.1373G>T c.(1372-1374)TGG>TTG p.W458L BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 458 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CCATTCTGGCCACGGAAGTTT 0.403 16 88 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170797378 170797378 + Missense_Mutation SNP T G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:170797378T>G uc003fhh.2 - 28 3722 c.3377A>C c.(3376-3378)GAC>GCC p.D1126A TNIK_uc003fhi.2_Missense_Mutation_p.D1071A|TNIK_uc003fhj.2_Missense_Mutation_p.D1097A|TNIK_uc003fhk.2_Missense_Mutation_p.D1118A|TNIK_uc003fhl.2_Missense_Mutation_p.D1042A|TNIK_uc003fhm.2_Missense_Mutation_p.D1063A|TNIK_uc003fhn.2_Missense_Mutation_p.D1089A|TNIK_uc003fho.2_Missense_Mutation_p.D1034A|TNIK_uc003fhg.2_Missense_Mutation_p.D304A|TNIK_uc003fhp.2_Missense_Mutation_p.D58A NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1126 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TACTTCTGGGTCATTATGTAG 0.338 8 31 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183910653 183910653 + Missense_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:183910653T>A uc003fmz.2 + 18 1852 c.1719T>A c.(1717-1719)AGT>AGA p.S573R ABCF3_uc003fna.2_Missense_Mutation_p.S567R|ABCF3_uc003fnb.2_Missense_Mutation_p.S254R NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 573 ABC transporter 2. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TAAACGTCAGTGCTGTGGAAC 0.542 18 44 --- --- --- --- PASS C3orf70 285382 broad.mit.edu 37 3 184870445 184870445 + Missense_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:184870445T>A uc003fpd.2 - 1 358 c.167A>T c.(166-168)CAC>CTC p.H56L NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 56 0 ACAGCACCAGTGCAGCTTGAA 0.697 8 8 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186971078 186971078 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:186971078C>T uc003frh.1 - 6 1102 c.770G>A c.(769-771)GGG>GAG p.G257E MASP1_uc003fri.2_Missense_Mutation_p.G257E|MASP1_uc003frj.2_Missense_Mutation_p.G226E|MASP1_uc003frk.1_Missense_Mutation_p.G257E|MASP1_uc011bse.1_Missense_Mutation_p.G231E NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 257 Interaction with FCN2.|CUB 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ACAGAAAGGCCCCAAAACTTT 0.507 61 151 --- --- --- --- PASS PIGZ 80235 broad.mit.edu 37 3 196674943 196674943 + Silent SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr3:196674943C>T uc003fxh.2 - 3 972 c.825G>A c.(823-825)ACG>ACA p.T275T NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, 275 Helical; (Potential). GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity ovary(3) 3 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) ACCAGCTGTCCGTGGCCACAA 0.592 12 41 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44177020 44177020 + Silent SNP T G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:44177020T>G uc003gwu.2 - 2 1493 c.1209A>C c.(1207-1209)CCA>CCC p.P403P NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 403 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 GTTTGTCTGGTGGGGGTATCC 0.483 HNSCC(17;0.042) 52 135 --- --- --- --- PASS GABRB1 2560 broad.mit.edu 37 4 47428023 47428023 + Silent SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:47428023C>T uc003gxh.2 + 9 1787 c.1413C>T c.(1411-1413)TAC>TAT p.Y471Y GABRB1_uc011bze.1_Silent_p.Y401Y NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 471 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATTGGCTTTACTATGTACACT 0.403 36 65 --- --- --- --- PASS MIR1269 100302177 broad.mit.edu 37 4 67142637 67142637 + RNA SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:67142637G>C hsa-mir-1269|MI0006406 + c.96G>C 0 tggcttccctggtctccagct 0.000 12 25 --- --- --- --- PASS FRAS1 80144 broad.mit.edu 37 4 79387483 79387483 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:79387483G>T uc003hlb.2 + 50 7591 c.7151G>T c.(7150-7152)CGG>CTG p.R2384L NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2383 CSPG 11.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TACCAGAACCGGGTCAGCTAC 0.537 16 19 --- --- --- --- PASS AFF1 4299 broad.mit.edu 37 4 87968236 87968236 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:87968236A>T uc003hqj.3 + 3 935 c.528A>T c.(526-528)AAA>AAT p.K176N AFF1_uc011ccx.1_Missense_Mutation_p.K117N|AFF1_uc003hqh.1_Missense_Mutation_p.K183N|AFF1_uc011ccy.1_Missense_Mutation_p.K183N|AFF1_uc011ccz.1_Missense_Mutation_p.K183N|AFF1_uc003hqk.3_Missense_Mutation_p.K176N|AFF1_uc011cda.1_Intron NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 176 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) ATCACAAGAAAGGTGACCGAA 0.582 22 44 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102751013 102751013 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:102751013G>T uc003hvy.3 + 2 393 c.119G>T c.(118-120)TGG>TTG p.W40L BANK1_uc003hvx.3_Missense_Mutation_p.W25L|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.W10L NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 40 Interaction with ITPR2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GCTGAGGAATGGGCTCTGTAC 0.338 11 30 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102751014 102751014 + Missense_Mutation SNP G T T rs35978636 byFrequency TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:102751014G>T uc003hvy.3 + 2 394 c.120G>T c.(118-120)TGG>TGT p.W40C BANK1_uc003hvx.3_Missense_Mutation_p.W25C|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.W10C NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 40 Interaction with ITPR2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) CTGAGGAATGGGCTCTGTACT 0.338 11 31 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123107280 123107280 + Nonsense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:123107280G>T uc003ieh.2 + 5 493 c.448G>T c.(448-450)GAG>TAG p.E150* KIAA1109_uc003iei.1_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 150 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ACGCCTTCAAGAGTTGTTTGG 0.383 19 32 --- --- --- --- PASS ANKRD50 57182 broad.mit.edu 37 4 125591992 125591992 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:125591992C>T uc003ifg.3 - 3 2706 c.2440G>A c.(2440-2442)GGT>AGT p.G814S ANKRD50_uc011cgo.1_Missense_Mutation_p.G635S|ANKRD50_uc010inw.2_Missense_Mutation_p.G814S NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 814 ANK 11. central_nervous_system(1) 1 ACTGTCCTACCTTCACTATCA 0.458 34 52 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162307058 162307058 + Silent SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:162307058C>G uc003iqh.2 - 16 2821 c.2385G>C c.(2383-2385)CGG>CGC p.R795R FSTL5_uc003iqi.2_Silent_p.R794R|FSTL5_uc010iqv.2_Silent_p.R785R|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 795 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GCCTGTTTTTCCGGTTCCAAG 0.453 27 82 --- --- --- --- PASS CLCN3 1182 broad.mit.edu 37 4 170618424 170618424 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr4:170618424C>G uc003isi.2 + 9 1611 c.1102C>G c.(1102-1104)CCA>GCA p.P368A CLCN3_uc003ish.2_Missense_Mutation_p.P368A|CLCN3_uc011cjz.1_Missense_Mutation_p.P351A|CLCN3_uc011cka.1_Missense_Mutation_p.P341A|CLCN3_uc003isj.1_Missense_Mutation_p.P341A NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 368 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) GTCCATCAATCCATTTGGTAA 0.363 48 71 --- --- --- --- PASS HAPLN1 1404 broad.mit.edu 37 5 82948380 82948380 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:82948380C>T uc003kim.2 - 2 435 c.364G>A c.(364-366)GCT>ACT p.A122T HAPLN1_uc003kin.2_Missense_Mutation_p.A122T NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 122 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) ACCAGAGAAGCATCACTATCA 0.443 16 94 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89989783 89989783 + Missense_Mutation SNP G A A rs78203228 by1000genomes TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:89989783G>A uc003kju.2 + 33 7306 c.7210G>A c.(7210-7212)GGT>AGT p.G2404S GPR98_uc003kjt.2_Missense_Mutation_p.G110S|GPR98_uc003kjv.2_Missense_Mutation_p.G4S NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2404 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATGGAGGAAGGTCAAGATTT 0.483 5 21 --- --- --- --- PASS ST8SIA4 7903 broad.mit.edu 37 5 100222203 100222203 + Missense_Mutation SNP C T T rs150785295 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:100222203C>T uc003knk.2 - 3 675 c.347G>A c.(346-348)CGG>CAG p.R116Q ST8SIA4_uc003knl.2_Missense_Mutation_p.R116Q NM_005668 NP_005659 Q92187 SIA8D_HUMAN ST8 alpha-N-acetyl-neuraminide 116 Lumenal (Potential). axon guidance|N-glycan processing integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GTTTAGTGTCCGGCGCCTGTC 0.438 34 23 --- --- --- --- PASS ISOC1 51015 broad.mit.edu 37 5 128448670 128448670 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:128448670G>T uc003kva.2 + 5 891 c.873G>T c.(871-873)GAG>GAT p.E291D NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 291 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) GTGCTCCAGAGTCGGGTCTGC 0.463 53 26 --- --- --- --- PASS TGFBI 7045 broad.mit.edu 37 5 135383035 135383035 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:135383035G>A uc003lbf.3 + 6 858 c.697G>A c.(697-699)GAT>AAT p.D233N TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D59N|TGFBI_uc011cyb.1_Missense_Mutation_p.D59N|TGFBI_uc010jed.2_5'Flank NM_000358 NP_000349 Q15582 BGH3_HUMAN transforming growth factor, beta-induced, 68kDa 233 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(3)|ovary(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCACCTCATCGATAAGGTCAT 0.557 52 102 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175375 140175375 + Nonsense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:140175375G>T uc003lhd.2 + 1 932 c.826G>T c.(826-828)GAG>TAG p.E276* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Nonsense_Mutation_p.E276*|PCDHA2_uc011czy.1_Nonsense_Mutation_p.E276* NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 276 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGAACAGCGAGATTGTGTA 0.408 51 19 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140559232 140559232 + Silent SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:140559232C>G uc011dai.1 + 1 1803 c.1617C>G c.(1615-1617)TCC>TCG p.S539S PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCGCGGCTCCCCGGCTTTGA 0.672 27 56 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140740790 140740790 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:140740790G>A uc003ljs.1 + 1 1088 c.1088G>A c.(1087-1089)GGA>GAA p.G363E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.G363E NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 363 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCCACCAGGAACAGTGATC 0.428 36 18 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140793345 140793345 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr5:140793345G>A uc003lkl.1 + 1 603 c.603G>A c.(601-603)GAG>GAA p.E201E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.E201E NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 201 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTACTGGAGCACTCCCTAG 0.587 13 14 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28327755 28327755 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:28327755C>T uc003nle.3 + 2 608 c.392C>T c.(391-393)CCG>CTG p.P131L ZKSCAN3_uc010jrc.2_Missense_Mutation_p.P131L|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 131 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 CTGGATGAGCCGGCGCCGCAG 0.562 4 10 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29364842 29364842 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:29364842G>T uc003nmf.3 + 1 427 c.366G>T c.(364-366)GTG>GTT p.V122V NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ACCTCTCTGTGGCTATCTGCA 0.507 8 30 --- --- --- --- PASS EHMT2 10919 broad.mit.edu 37 6 31854777 31854777 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:31854777G>A uc003nxz.1 - 16 2123 c.2113C>T c.(2113-2115)CTG>TTG p.L705L EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.L496L|EHMT2_uc011don.1_Silent_p.L728L|EHMT2_uc003nya.1_Silent_p.L671L NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 705 ANK 2. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CTGACCTGCAGCAGCACATGG 0.687 4 62 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32037465 32037465 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:32037465G>T uc003nzl.2 - 15 5654 c.5452C>A c.(5452-5454)CAG>AAG p.Q1818K NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1900 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 GGCACCACCTGGGGCTGCCCG 0.657 9 8 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50683050 50683050 + Silent SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:50683050C>G uc003paf.2 + 2 773 c.261C>G c.(259-261)CCC>CCG p.P87P TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 87 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) CCGTCACCCCCGACGCCTACT 0.587 16 36 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472357 57472357 + Splice_Site SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:57472357A>T uc003pdx.2 + 13 1235 c.1148_splice c.e13-2 p.G383_splice NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTTTGTTGTCAGGGTGCCCAT 0.438 5 25 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73904327 73904327 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:73904327C>A uc003pgk.2 + 14 2336 c.1989C>A c.(1987-1989)AGC>AGA p.S663R KCNQ5_uc011dyh.1_Missense_Mutation_p.S682R|KCNQ5_uc011dyi.1_Missense_Mutation_p.S673R|KCNQ5_uc010kat.2_Missense_Mutation_p.S654R|KCNQ5_uc011dyj.1_Missense_Mutation_p.S553R|KCNQ5_uc011dyk.1_Missense_Mutation_p.S413R NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 663 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CTGTGGATAGCAAAGATCTTT 0.493 18 43 --- --- --- --- PASS GPR63 81491 broad.mit.edu 37 6 97247581 97247581 + Silent SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:97247581C>A uc010kcl.2 - 3 505 c.27G>T c.(25-27)GCG>GCT p.A9A GPR63_uc003pou.2_Silent_p.A9A NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 9 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) CGGTATGGAACGCAGTCAACA 0.463 18 31 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105233141 105233141 + Silent SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:105233141T>A uc003pqu.1 - 12 1405 c.1128A>T c.(1126-1128)ACA>ACT p.T376T HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Silent_p.T376T|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Silent_p.T29T NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 376 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TCATCAATTCTGTGGCTATTA 0.363 17 31 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105609387 105609387 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:105609387G>A uc003prb.2 - 2 800 c.398C>T c.(397-399)TCT>TTT p.S133F uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 133 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) AACCACTTCAGAGCTCAAAGC 0.463 21 46 --- --- --- --- PASS ZBTB24 9841 broad.mit.edu 37 6 109802864 109802864 + Silent SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:109802864T>A uc003ptl.1 - 2 534 c.366A>T c.(364-366)GTA>GTT p.V122V ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Silent_p.V122V|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Silent_p.V122V NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 122 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGTAAGCCTTTACCAGGTCAT 0.418 26 105 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109996906 109996906 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:109996906T>C uc003ptn.2 - 2 120 c.43A>G c.(43-45)ATA>GTA p.I15V AKD1_uc003ptr.3_Missense_Mutation_p.I15V|AKD1_uc003pts.1_RNA NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 15 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TCATCAAATATATCTGCAAAA 0.313 11 33 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161015040 161015040 + Silent SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:161015040G>C uc003qtl.2 - 23 3699 c.3579C>G c.(3577-3579)TCC>TCG p.S1193S NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3701 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GTGTCATAGAGGACCAAGACT 0.483 24 37 --- --- --- --- PASS EIF3B 8662 broad.mit.edu 37 7 2415136 2415136 + Missense_Mutation SNP A C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:2415136A>C uc003slx.2 + 14 2085 c.2002A>C c.(2002-2004)ACC>CCC p.T668P EIF3B_uc003sly.2_Missense_Mutation_p.T668P|EIF3B_uc003sma.2_Missense_Mutation_p.T396P|EIF3B_uc003smb.2_5'Flank NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 668 WD 5. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTACGTCGTCACCTCTGTGTC 0.562 4 47 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4901276 4901276 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:4901276C>T uc003snk.2 - 1 350 c.166G>A c.(166-168)GAA>AAA p.E56K RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 55 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AGTTCCTCTTCCTCTTCGAAG 0.502 8 15 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88963179 88963179 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:88963179A>G uc011khi.1 + 4 1421 c.883A>G c.(883-885)ACC>GCC p.T295A NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 295 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTACACAATACCATCTCCAT 0.358 HNSCC(36;0.09) 13 27 --- --- --- --- PASS NAA38 51691 broad.mit.edu 37 7 117828443 117828443 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:117828443G>T uc003vjg.2 + 3 376 c.184G>T c.(184-186)GTA>TTA p.V62L NM_016200 NP_057284 O95777 NAA38_HUMAN U6 snRNA-associated Sm-like protein LSm8 62 nuclear mRNA splicing, via spliceosome nucleus|ribonucleoprotein complex protein binding|U6 snRNA binding 0 ATTATACATTGTAAGAGGTGA 0.363 8 35 --- --- --- --- PASS FAM3C 10447 broad.mit.edu 37 7 121011442 121011442 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:121011442T>C uc003vjx.2 - 5 432 c.184A>G c.(184-186)AAA>GAA p.K62E FAM3C_uc010lkm.2_Missense_Mutation_p.K62E NM_014888 NP_055703 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 62 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity 0 all_neural(327;0.117) GGGCAAGCTTTTGAGATCCCA 0.413 37 41 --- --- --- --- PASS AKR1B1 231 broad.mit.edu 37 7 134130009 134130009 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:134130009T>C uc003vrp.1 - 9 963 c.889A>G c.(889-891)AGG>GGG p.R297G AKR1B1_uc003vrq.1_RNA NM_001628 NP_001619 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 297 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding ovary(3) 3 NADH(DB00157)|Sulindac(DB00605) GCACAGACCCTCCAGTTCCTG 0.488 2 7 --- --- --- --- PASS BPGM 669 broad.mit.edu 37 7 134346768 134346768 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:134346768A>G uc003vrv.2 + 3 1050 c.509A>G c.(508-510)AAT>AGT p.N170S BPGM_uc003vrw.2_Missense_Mutation_p.N170S|BPGM_uc003vrx.2_Missense_Mutation_p.N170S NM_199186 NP_954655 P07738 PMGE_HUMAN bisphosphoglycerate mutase 170 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CCCTATTGGAATGAAAGGATT 0.473 22 35 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138604053 138604053 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:138604053G>A uc011kql.1 - 2 368 c.319C>T c.(319-321)CTC>TTC p.L107F KIAA1549_uc003vuk.3_Missense_Mutation_p.L57F|KIAA1549_uc011kqj.1_Missense_Mutation_p.L107F NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 107 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GTGACATGGAGAGGACTGCTG 0.517 O BRAF pilocytic astrocytoma 19 46 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701563 143701563 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr7:143701563G>A uc003wdt.1 + 1 474 c.474G>A c.(472-474)GCG>GCA p.A158A NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TCTCCCTGGCGAAGATCTACT 0.532 11 17 --- --- --- --- PASS BIN3 55909 broad.mit.edu 37 8 22488075 22488075 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr8:22488075G>A uc003xcl.2 - 5 274 c.177C>T c.(175-177)GCC>GCT p.A59A BIN3_uc003xck.2_Silent_p.A11A|BIN3_uc010ltw.2_Silent_p.A5A NM_018688 NP_061158 Q9NQY0 BIN3_HUMAN bridging integrator 3 59 BAR. actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth cytoplasm|cytoskeleton cytoskeletal adaptor activity 0 Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143) BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) ATATCTTCACGGCAGATTTTG 0.557 5 11 --- --- --- --- PASS EBF2 64641 broad.mit.edu 37 8 25715978 25715978 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr8:25715978G>C uc003xes.1 - 14 1402 c.1385C>G c.(1384-1386)TCT>TGT p.S462C PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 462 Pro/Ser/Thr-rich. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GGAGCTGGAAGAGTATCCCCG 0.517 3 29 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38162894 38162894 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr8:38162894C>A uc003xli.2 - 13 2830 c.2312G>T c.(2311-2313)GGG>GTG p.G771V WHSC1L1_uc011lbm.1_Missense_Mutation_p.G771V|WHSC1L1_uc010lwe.2_Missense_Mutation_p.G771V NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 771 PHD-type 2. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) ATAAAATTTCCCACAAGCACC 0.448 T NUP98 AML 12 171 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89128831 89128831 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr8:89128831T>C uc003yeb.3 - 6 1270 c.988A>G c.(988-990)ACC>GCC p.T330A MMP16_uc003yec.2_Missense_Mutation_p.T330A NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 330 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GGTCTGCCGGTTGGAGGCCGA 0.532 18 39 --- --- --- --- PASS DAPK1 1612 broad.mit.edu 37 9 90321440 90321440 + Silent SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:90321440C>T uc004apc.2 + 26 3592 c.3454C>T c.(3454-3456)CTG>TTG p.L1152L DAPK1_uc004apd.2_Silent_p.L1152L|DAPK1_uc011ltg.1_Silent_p.L1086L|DAPK1_uc011lth.1_Silent_p.L889L|DAPK1_uc004apg.2_Silent_p.L129L NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 1152 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CCAGGTGAACCTGTGCCGGTG 0.627 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 15 8 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104432474 104432474 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:104432474C>A uc004bbp.1 - 3 2821 c.2220G>T c.(2218-2220)TGG>TGT p.W740C GRIN3A_uc004bbq.1_Missense_Mutation_p.W740C NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 740 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACCTTCCAGTCCAACATTTTG 0.438 14 34 --- --- --- --- PASS TMEM38B 55151 broad.mit.edu 37 9 108483984 108483984 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:108483984G>A uc004bcu.1 + 3 553 c.436G>A c.(436-438)GCT>ACT p.A146T TMEM38B_uc010mtn.1_Intron NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 146 Helical; (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 AGTCATGATAGCTATTGGATG 0.368 19 7 --- --- --- --- PASS GOLGA2 2801 broad.mit.edu 37 9 131019402 131019402 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:131019402T>C uc011maw.1 - 26 2966 c.2953A>G c.(2953-2955)ATT>GTT p.I985V GOLGA2_uc010mxw.2_Missense_Mutation_p.I308V|GOLGA2_uc004buh.2_Missense_Mutation_p.I335V NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 985 Golgi cisterna membrane protein binding ovary(1) 1 AAAAAAGGAATGCAGGGGTTG 0.557 68 36 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139412675 139412675 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:139412675T>C uc004chz.2 - 7 1169 c.1169A>G c.(1168-1170)AAC>AGC p.N390S NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 390 Extracellular (Potential).|EGF-like 10. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATTGACAGGGTTGGTGTCGCA 0.662 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 3 8 --- --- --- --- PASS EHMT1 79813 broad.mit.edu 37 9 140605444 140605444 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr9:140605444A>T uc011mfc.1 + 2 84 c.47A>T c.(46-48)CAG>CTG p.Q16L EHMT1_uc004coa.2_Missense_Mutation_p.Q16L|EHMT1_uc004cob.1_Intron NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 16 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGGGAGCCTCAGCAGGATTGC 0.582 3 0 --- --- --- --- PASS DIP2C 22982 broad.mit.edu 37 10 323266 323266 + Nonstop_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:323266T>A uc001ifp.2 - 37 4760 c.4670A>T c.(4669-4671)TAG>TTG p.*1557L NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 1557 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GAGACGAGACTACATGTTGTA 0.527 6 30 --- --- --- --- PASS GTPBP4 23560 broad.mit.edu 37 10 1058523 1058523 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:1058523G>A uc001ift.2 + 14 1534 c.1463G>A c.(1462-1464)CGA>CAA p.R488Q GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R372Q|GTPBP4_uc010qae.1_Missense_Mutation_p.R441Q NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN G protein-binding protein CRFG 488 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding ovary(1)|skin(1) 2 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) AAGCAAATTCGAGAGAAAAAG 0.443 9 23 --- --- --- --- PASS MPP7 143098 broad.mit.edu 37 10 28348580 28348580 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:28348580T>C uc001iua.1 - 16 1701 c.1297A>G c.(1297-1299)AAG>GAG p.K433E MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.K433E|MPP7_uc009xla.2_Missense_Mutation_p.K433E|MPP7_uc010qdv.1_RNA NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN palmitoylated membrane protein 7 433 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity ovary(1) 1 TCCACATACTTGTTATTTTGT 0.358 14 30 --- --- --- --- PASS SVIL 6840 broad.mit.edu 37 10 29759370 29759370 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:29759370T>C uc001iut.1 - 32 6431 c.5678A>G c.(5677-5679)GAA>GGA p.E1893G LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E807G|SVIL_uc001iuu.1_Missense_Mutation_p.E1467G NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1893 Gelsolin-like 4. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) CAAATTCCCTTCCACGGGCAC 0.617 11 30 --- --- --- --- PASS PRF1 5551 broad.mit.edu 37 10 72360409 72360409 + Missense_Mutation SNP T G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:72360409T>G uc009xqg.2 - 2 411 c.250A>C c.(250-252)ACC>CCC p.T84P PRF1_uc001jrf.3_Missense_Mutation_p.T84P NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 84 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CGCTGGAGGGTGCCCTCCTGT 0.662 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 6 26 --- --- --- --- PASS SORBS1 10580 broad.mit.edu 37 10 97131754 97131754 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:97131754C>G uc001kkp.2 - 18 1835 c.1790G>C c.(1789-1791)AGA>ACA p.R597T SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.R199T|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Intron|SORBS1_uc001kko.2_Missense_Mutation_p.R619T|SORBS1_uc001kkq.2_Missense_Mutation_p.R482T|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.R551T|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 isoform 3 597 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity breast(1) 1 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TCTATCCTCTCTAGGAAGGAT 0.433 4 7 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118385516 118385516 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:118385516G>A uc001lcq.2 + 6 290 c.267G>A c.(265-267)AAG>AAA p.K89K PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 88 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) TGGACCGCAAGACACGCTTCA 0.498 7 13 --- --- --- --- PASS MTG1 92170 broad.mit.edu 37 10 135233567 135233567 + Silent SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:135233567A>T uc001lnd.2 + 11 1007 c.903A>T c.(901-903)GCA>GCT p.A301A MTG1_uc010qve.1_Silent_p.A166A NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 301 mitochondrion GTP binding|protein binding skin(1) 1 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) ATCCTGCGGCAGCCCGTGACT 0.627 23 46 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1157826 1157826 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:1157826G>T uc009ycr.1 + 9 1019 c.893G>T c.(892-894)TGT>TTT p.C298F NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 294 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCTGCTTCTGTGAAGACACC 0.657 15 31 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903507 4903507 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:4903507G>A uc010qyp.1 + 1 459 c.459G>A c.(457-459)GTG>GTA p.V153V NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCGCTTCGTGGCTATCTGTA 0.478 39 76 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18955514 18955514 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:18955514A>G uc001mpg.2 - 1 1036 c.818T>C c.(817-819)TTC>TCC p.F273S NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 273 Helical; Name=7; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GCCCACGAAGAAGTAAATGAT 0.498 12 30 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55339938 55339938 + Missense_Mutation SNP T A A rs143747626 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:55339938T>A uc010rih.1 + 1 335 c.335T>A c.(334-336)ATC>AAC p.I112N NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GAGATCTTCATCCTCATCCTC 0.488 36 98 --- --- --- --- PASS OR4C16 219428 broad.mit.edu 37 11 55339939 55339939 + Silent SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:55339939C>A uc010rih.1 + 1 336 c.336C>A c.(334-336)ATC>ATA p.I112I NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 112 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) AGATCTTCATCCTCATCCTCA 0.493 35 99 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406540 55406540 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:55406540C>G uc010rij.1 + 1 707 c.707C>G c.(706-708)GCC>GGC p.A236G NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 236 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AAAGCTCTTGCCACTTGTAGT 0.373 37 16 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587418 55587418 + Missense_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:55587418T>A uc010rin.1 + 1 313 c.313T>A c.(313-315)TTC>ATC p.F105I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) ATTCTTTTTCTTCTGTACCTT 0.418 54 127 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431579 56431579 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:56431579G>C uc010rjm.1 + 1 418 c.418G>C c.(418-420)GTC>CTC p.V140L NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 140 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTCCAAGCAGGTCTGCTTGGC 0.517 51 97 --- --- --- --- PASS OR5AR1 219493 broad.mit.edu 37 11 56431588 56431588 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:56431588G>C uc010rjm.1 + 1 427 c.427G>C c.(427-429)GCT>CCT p.A143P NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTCTGCTTGGCTCTCATGCT 0.517 50 93 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56511195 56511195 + Silent SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:56511195A>T uc010rjo.1 - 1 93 c.93T>A c.(91-93)GGT>GGA p.G31G NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 31 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CTGCTGAGAAACCCAACAAGA 0.433 12 49 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245829 59245829 + Missense_Mutation SNP T G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:59245829T>G uc001nnz.1 + 1 927 c.927T>G c.(925-927)GAT>GAG p.D309E NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGCCTTCTGATAGAAAATAGA 0.259 8 7 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62286513 62286513 + Missense_Mutation SNP A C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:62286513A>C uc001ntl.2 - 5 15676 c.15376T>G c.(15376-15378)TTG>GTG p.L5126V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5126 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATCGCTGGCAAAGAAAGTTCC 0.493 22 37 --- --- --- --- PASS SYT12 91683 broad.mit.edu 37 11 66807557 66807557 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:66807557G>T uc009yrl.2 + 4 734 c.504G>T c.(502-504)ACG>ACT p.T168T SYT12_uc001oju.2_Silent_p.T168T NM_177963 NP_808878 Q8IV01 SYT12_HUMAN synaptotagmin XII 168 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane ovary(1) 1 CCTCCCACACGCTGAACGTGG 0.627 3 30 --- --- --- --- PASS RNF26 79102 broad.mit.edu 37 11 119206134 119206134 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:119206134G>A uc001pwh.2 + 1 898 c.302G>A c.(301-303)GGG>GAG p.G101E NM_032015 NP_114404 Q9BY78 RNF26_HUMAN ring finger protein 26 101 Leu-rich. zinc ion binding ovary(1) 1 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.8e-05) AAGCTCCTGGGGCACCTGGCC 0.612 23 66 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124740172 124740172 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:124740172A>T uc001qbc.2 + 5 1070 c.878A>T c.(877-879)AAG>ATG p.K293M NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 293 Ig-like C2-type 3.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CGCTGGCGCAAGGAGGATGGG 0.577 9 17 --- --- --- --- PASS CHEK1 1111 broad.mit.edu 37 11 125499319 125499319 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:125499319G>T uc009zbo.2 + 5 1280 c.388G>T c.(388-390)GAT>TAT p.D130Y CHEK1_uc010sbh.1_Missense_Mutation_p.D146Y|CHEK1_uc010sbi.1_Missense_Mutation_p.D130Y|CHEK1_uc001qcf.3_Missense_Mutation_p.D130Y|CHEK1_uc009zbp.2_Missense_Mutation_p.D130Y|CHEK1_uc001qcg.3_Missense_Mutation_p.D130Y|CHEK1_uc009zbq.2_Missense_Mutation_p.D130Y|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 130 Protein kinase. Proton acceptor. D->A: Abolishes kinase activity. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AACTCACAGGGATATTAAACC 0.279 Other_conserved_DNA_damage_response_genes 19 22 --- --- --- --- PASS B4GALNT3 283358 broad.mit.edu 37 12 659049 659049 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:659049G>A uc001qii.1 + 10 968 c.968G>A c.(967-969)CGG>CAG p.R323Q B4GALNT3_uc001qij.1_Missense_Mutation_p.R225Q|B4GALNT3_uc001qik.1_5'Flank NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 323 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GACATGCTTCGGCCTGACCCC 0.642 7 16 --- --- --- --- PASS EFCAB4B 84766 broad.mit.edu 37 12 3788200 3788200 + Silent SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:3788200G>C uc001qmj.2 - 6 977 c.405C>G c.(403-405)CGC>CGG p.R135R EFCAB4B_uc010sen.1_Silent_p.R135R|EFCAB4B_uc010seo.1_Silent_p.R135R NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 135 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCTCTTCATGGCGCTGGGCCA 0.557 23 89 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7527189 7527189 + Silent SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:7527189C>T uc001qsy.2 - 13 3284 c.3258G>A c.(3256-3258)ACG>ACA p.T1086T CD163L1_uc010sge.1_Silent_p.T1096T NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 1086 SRCR 10.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 GAGCAGAGACCGTGGCATTGA 0.617 OREG0021653 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 47 --- --- --- --- PASS C12orf40 283461 broad.mit.edu 37 12 40076850 40076850 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:40076850A>G uc001rmc.2 + 8 1291 c.1124A>G c.(1123-1125)AAG>AGG p.K375R C12orf40_uc009zjv.1_RNA NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 375 ovary(6) 6 CAGCCAAACAAGAAGTATCAG 0.328 3 24 --- --- --- --- PASS ADAMTS20 80070 broad.mit.edu 37 12 43822570 43822570 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:43822570G>T uc010skx.1 - 25 3522 c.3522C>A c.(3520-3522)GCC>GCA p.A1174A ADAMTS20_uc001rno.1_Silent_p.A292A|ADAMTS20_uc001rnp.1_Silent_p.A328A NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1174 TSP type-1 7. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTACATAGCGGGCTTGAGTAC 0.433 25 33 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52992868 52992868 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:52992868A>G uc001sar.2 - 2 541 c.455T>C c.(454-456)GTG>GCG p.V152A KRT72_uc001saq.2_Missense_Mutation_p.V152A|KRT72_uc010sns.1_Missense_Mutation_p.V152A|KRT72_uc010snt.1_5'UTR NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 152 Coil 1A.|Rod. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) GGTCTCTAGCACCTGATTCTG 0.552 21 39 --- --- --- --- PASS CALCOCO1 57658 broad.mit.edu 37 12 54115397 54115397 + Silent SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:54115397C>G uc001sef.2 - 6 756 c.612G>C c.(610-612)GGG>GGC p.G204G CALCOCO1_uc010som.1_Silent_p.G171G|CALCOCO1_uc010son.1_Silent_p.G81G|CALCOCO1_uc001seh.2_Silent_p.G204G|CALCOCO1_uc009znd.2_Silent_p.G204G|CALCOCO1_uc001seg.2_Silent_p.G81G|CALCOCO1_uc010soo.1_Silent_p.G197G NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 204 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 ACCGGGAAATCCCCTGAAATT 0.542 88 178 --- --- --- --- PASS TMTC2 160335 broad.mit.edu 37 12 83526007 83526007 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:83526007A>T uc001szt.2 + 12 2782 c.2350A>T c.(2350-2352)AAC>TAC p.N784Y TMTC2_uc010suk.1_Missense_Mutation_p.N539Y NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 784 TPR 10. endoplasmic reticulum|integral to membrane binding ovary(2) 2 TGCTTTGATGAACCTGGGAGC 0.493 14 19 --- --- --- --- PASS HCFC2 29915 broad.mit.edu 37 12 104496843 104496843 + Missense_Mutation SNP A T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:104496843A>T uc001tkj.3 + 15 2274 c.2171A>T c.(2170-2172)AAT>ATT p.N724I HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 724 Fibronectin type-III 3. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 ATACAAGATAATCCAAGTCAA 0.408 33 63 --- --- --- --- PASS WDR66 144406 broad.mit.edu 37 12 122395069 122395069 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:122395069G>C uc009zxk.2 + 11 1767 c.1625G>C c.(1624-1626)GGC>GCC p.G542A NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 542 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) TTGAAACTGGGCGCCATAAGA 0.423 29 62 --- --- --- --- PASS ZCCHC8 55596 broad.mit.edu 37 12 122966142 122966142 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:122966142C>G uc001ucn.2 - 10 1076 c.945G>C c.(943-945)CAG>CAC p.Q315H ZCCHC8_uc001ucm.2_Missense_Mutation_p.Q77H|ZCCHC8_uc009zxp.2_Missense_Mutation_p.Q77H|ZCCHC8_uc009zxq.2_Missense_Mutation_p.Q77H NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 315 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) GGTACCCTAGCTGGCGCATCC 0.433 43 72 --- --- --- --- PASS EIF2B1 1967 broad.mit.edu 37 12 124110982 124110982 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:124110982C>T uc001ufm.2 - 6 684 c.541G>A c.(541-543)GCT>ACT p.A181T EIF2B1_uc001ufn.2_Missense_Mutation_p.A179T NM_001414 NP_001405 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, 181 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) CCGACAGCAGCATCTAGCACC 0.498 10 18 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129559299 129559299 + Missense_Mutation SNP A C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:129559299A>C uc009zyl.1 - 9 2749 c.2421T>G c.(2419-2421)AGT>AGG p.S807R TMEM132D_uc001uia.2_Missense_Mutation_p.S345R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 807 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTCTGCTGTCACTGGTGTTGG 0.498 27 69 --- --- --- --- PASS ZNF10 7556 broad.mit.edu 37 12 133732712 133732712 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr12:133732712G>A uc009zzb.2 + 5 1327 c.880G>A c.(880-882)GAG>AAG p.E294K ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.E294K NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 294 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AAAACCCTATGAGTGTAAAGA 0.413 22 52 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32813884 32813884 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr13:32813884C>G uc001utx.2 + 46 7049 c.6553C>G c.(6553-6555)CTT>GTT p.L2185V FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2185 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTTTCAAATCTTGCACATGT 0.373 12 15 --- --- --- --- PASS N4BP2L2 10443 broad.mit.edu 37 13 33110057 33110057 + Nonsense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr13:33110057C>A uc001uuk.3 - 2 1286 c.1108G>T c.(1108-1110)GAA>TAA p.E370* N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron|N4BP2L2_uc001uul.1_Nonsense_Mutation_p.E370*|N4BP2L2_uc001uum.2_5'Flank NM_014887 NP_055702 Q92802 N42L2_HUMAN phosphonoformate immuno-associated protein 5 370 0 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CAGCATCTTTCTCTGACTTCA 0.388 24 62 --- --- --- --- PASS C13orf18 80183 broad.mit.edu 37 13 46946524 46946524 + Silent SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr13:46946524C>A uc010acl.2 - 3 692 c.87G>T c.(85-87)TCG>TCT p.S29S C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Silent_p.S29S|C13orf18_uc001vbh.3_Silent_p.S29S|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Silent_p.S29S|C13orf18_uc010tga.1_Intron NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 29 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) GGAGTCTGGGCGAACCATCAA 0.522 3 8 --- --- --- --- PASS INTS6 26512 broad.mit.edu 37 13 52026179 52026179 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr13:52026179C>T uc001vfk.2 - 2 738 c.124G>A c.(124-126)GAC>AAC p.D42N INTS6_uc001vfj.2_Missense_Mutation_p.D29N|INTS6_uc001vfl.2_5'UTR|INTS6_uc001vfm.2_Missense_Mutation_p.D42N|uc001vfn.2_5'Flank NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 42 VWFA. snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CTGGCAGGGTCCCGGGCACGG 0.572 4 14 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72053374 72053374 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr13:72053374C>G uc010thn.1 - 9 2220 c.1797G>C c.(1795-1797)AAG>AAC p.K599N DACH1_uc010tho.1_Missense_Mutation_p.K451N|DACH1_uc010thp.1_Missense_Mutation_p.K397N NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 651 DACHbox-C.|Potential.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) AAAAATCCATCTTCAGCTCAG 0.388 37 44 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553590 19553590 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr14:19553590G>T uc001vuz.1 + 1 226 c.174G>T c.(172-174)AGG>AGT p.R58S POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 58 ovary(1) 1 AGACACTCAGGAGCAAGATGG 0.612 33 232 --- --- --- --- PASS RNASE10 338879 broad.mit.edu 37 14 20979274 20979274 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr14:20979274G>T uc010tlj.1 + 1 644 c.644G>T c.(643-645)GGA>GTA p.G215V RNASE10_uc001vxp.2_Missense_Mutation_p.G243V NM_001012975 NP_001012993 Q5GAN6 RNS10_HUMAN ribonuclease, RNase A family, 10 (non-active) 215 extracellular region nucleic acid binding|pancreatic ribonuclease activity 0 all_cancers(95;0.00123) Epithelial(56;1.81e-07)|all cancers(55;1.86e-06) GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191) TTACCAACTGGACAATGAAGC 0.249 8 6 --- --- --- --- PASS MIA2 117153 broad.mit.edu 37 14 39722083 39722083 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr14:39722083G>A uc001wux.2 + 5 1893 c.1699G>A c.(1699-1701)GAC>AAC p.D567N NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 Error:Variant_position_missing_in_Q96PC5_after_alignment extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) GGTGGAGATAGACAGATCTGT 0.373 17 17 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51190336 51190336 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr14:51190336C>T uc001wyi.2 - 31 6438 c.6247G>A c.(6247-6249)GCC>ACC p.A2083T NIN_uc001wyj.2_RNA NM_020921 NP_065972 Q8N4C6 NIN_HUMAN ninein isoform 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) AACAACTGGGCATTTTCAACA 0.428 T PDGFRB MPD 23 16 --- --- --- --- PASS NIPA2 81614 broad.mit.edu 37 15 23006622 23006622 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr15:23006622A>G uc001yux.2 - 8 1295 c.682T>C c.(682-684)TGT>CGT p.C228R NIPA2_uc001yuy.2_Missense_Mutation_p.C228R|NIPA2_uc001yuz.2_Missense_Mutation_p.C228R|NIPA2_uc001yva.2_Missense_Mutation_p.C209R|NIPA2_uc001yvb.2_Missense_Mutation_p.C228R|NIPA2_uc010ayb.2_Missense_Mutation_p.C209R NM_030922 NP_112184 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 228 Helical; (Potential). early endosome|integral to membrane|plasma membrane haematopoietic_and_lymphoid_tissue(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;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GTGCTCACACAGACGATGAGG 0.463 44 32 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33835852 33835852 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr15:33835852C>G uc001zhi.2 + 8 746 c.676C>G c.(676-678)CTT>GTT p.L226V RYR3_uc010bar.2_Missense_Mutation_p.L226V NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 226 MIR 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGTAGTACGTCTTTTCCATGG 0.398 55 34 --- --- --- --- PASS PGBD4 161779 broad.mit.edu 37 15 34396179 34396179 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr15:34396179A>G uc001zho.2 + 1 1906 c.1447A>G c.(1447-1449)ATA>GTA p.I483V C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank NM_152595 NP_689808 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 483 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) GATGAGCCATATAAACTTCAG 0.443 15 4 --- --- --- --- PASS ATPBD4 89978 broad.mit.edu 37 15 35703036 35703036 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr15:35703036C>G uc001zja.2 - 6 629 c.567G>C c.(565-567)GAG>GAC p.E189D ATPBD4_uc001ziz.2_Missense_Mutation_p.E173D NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN ATP binding domain 4 isoform 1 189 0 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) AAATTCTTACCTCTATGAGAT 0.294 43 43 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86213042 86213042 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr15:86213042C>G uc002blv.1 + 14 5252 c.5082C>G c.(5080-5082)ATC>ATG p.I1694M AKAP13_uc002blt.1_Missense_Mutation_p.I1676M|AKAP13_uc002blu.1_Missense_Mutation_p.I1698M|AKAP13_uc010bnf.1_Missense_Mutation_p.I316M|AKAP13_uc002blw.1_Missense_Mutation_p.I161M|AKAP13_uc010bne.1_Missense_Mutation_p.I347M NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1694 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TAATGACAATCAGCCATCCTG 0.338 18 15 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20576154 20576154 + Missense_Mutation SNP C T T rs144570025 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr16:20576154C>T uc002dhj.3 - 3 224 c.14G>A c.(13-15)CGA>CAA p.R5Q ACSM2B_uc002dhk.3_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CTGAACTTTTCGCAGCCAATG 0.498 4 28 --- --- --- --- PASS CYLD 1540 broad.mit.edu 37 16 50826618 50826618 + Splice_Site SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr16:50826618T>A uc002egp.1 + 16 2765 c.2350_splice c.e16+2 p.T784_splice CYLD_uc010cbs.1_Splice_Site_p.T781_splice|CYLD_uc002egq.1_Splice_Site_p.T781_splice|CYLD_uc002egr.1_Splice_Site_p.T781_splice NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) TTGAAGACAGTAAGTATGAGA 0.209 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 4 9 --- --- --- --- PASS COQ9 57017 broad.mit.edu 37 16 57486804 57486804 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr16:57486804C>T uc002elq.2 + 3 350 c.334C>T c.(334-336)CCC>TCC p.P112S COQ9_uc002elp.1_Missense_Mutation_p.P112S|COQ9_uc010vhn.1_Missense_Mutation_p.P112S|COQ9_uc010vho.1_Missense_Mutation_p.P112S|COQ9_uc010vhp.1_Missense_Mutation_p.P112S|COQ9_uc002elr.2_Missense_Mutation_p.P112S NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 112 ubiquinone biosynthetic process mitochondrion breast(1) 1 TGAGTTTGTGCCCGCCCACGG 0.592 3 40 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C A A rs11540654 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:7579358C>A uc002gim.2 - 4 523 c.329G>T c.(328-330)CGT>CTT p.R110L TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 110 Interaction with HIPK1 (By similarity).||Interaction with WWOX. R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612 111 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) 13 16 --- --- --- --- PASS CCDC42 146849 broad.mit.edu 37 17 8638528 8638528 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:8638528G>T uc002gln.2 - 6 986 c.759C>A c.(757-759)ACC>ACA p.T253T CCDC42_uc002glo.2_Silent_p.T179T NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 253 ovary(1) 1 CAAGCAGGAGGGTCTTCTTGG 0.522 11 10 --- --- --- --- PASS FZD2 2535 broad.mit.edu 37 17 42635359 42635359 + Silent SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:42635359C>A uc002igx.1 + 1 435 c.303C>A c.(301-303)ACC>ACA p.T101T NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 101 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CCGTGTGCACCGTGCTGGAAC 0.632 25 52 --- --- --- --- PASS DBF4B 80174 broad.mit.edu 37 17 42809611 42809611 + Silent SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:42809611A>G uc002ihf.2 + 6 747 c.534A>G c.(532-534)GGA>GGG p.G178G DBF4B_uc002ihd.1_3'UTR|DBF4B_uc010wjb.1_Intron|DBF4B_uc002ihe.2_Intron|DBF4B_uc010wjc.1_Silent_p.G162G|DBF4B_uc002ihg.2_3'UTR NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 178 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) GCTCTTGGGGAGTGAGGATTC 0.552 10 18 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56349033 56349033 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:56349033C>A uc002ivu.1 - 11 2190 c.2013G>T c.(2011-2013)AAG>AAT p.K671N NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 671 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) CATCCCGGAGCTTCCTGAACT 0.632 13 13 --- --- --- --- PASS BPTF 2186 broad.mit.edu 37 17 65924580 65924580 + Missense_Mutation SNP T G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:65924580T>G uc002jgf.2 + 16 5922 c.5861T>G c.(5860-5862)ATA>AGA p.I1954R BPTF_uc002jge.2_Missense_Mutation_p.I2080R NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2080 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) GTGGCCCCCATAAGTGGCTCA 0.458 5 32 --- --- --- --- PASS ITGB4 3691 broad.mit.edu 37 17 73727361 73727361 + Missense_Mutation SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:73727361A>G uc002jpg.2 + 10 1314 c.1127A>G c.(1126-1128)GAC>GGC p.D376G ITGB4_uc002jph.2_Missense_Mutation_p.D376G|ITGB4_uc010dgo.2_Missense_Mutation_p.D376G|ITGB4_uc002jpi.3_Missense_Mutation_p.D376G|ITGB4_uc010dgp.1_Missense_Mutation_p.D376G|ITGB4_uc002jpj.2_Missense_Mutation_p.D376G|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 376 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGGCCCTAGACAGCCCCCGA 0.617 14 24 --- --- --- --- PASS WDR45L 56270 broad.mit.edu 37 17 80588802 80588802 + Missense_Mutation SNP T A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:80588802T>A uc002kfq.2 - 3 434 c.239A>T c.(238-240)AAC>ATC p.N80I WDR45L_uc002kfr.2_RNA NM_019613 NP_062559 Q5MNZ6 WIPI3_HUMAN WDR45-like 80 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding ovary(1) 1 Breast(20;0.00106)|all_neural(118;0.0952) all_cancers(8;0.101)|all_epithelial(8;0.198) BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.0835) AGTACCTTTGTTGGGAGGGTA 0.408 66 116 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6971894 6971894 + Silent SNP A G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:6971894A>G uc002knm.2 - 48 6955 c.6861T>C c.(6859-6861)TAT>TAC p.Y2287Y LAMA1_uc010wzj.1_Silent_p.Y1763Y NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2287 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCTTTCAATATAGTTCCATA 0.443 37 42 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6971974 6971974 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:6971974G>C uc002knm.2 - 48 6875 c.6781C>G c.(6781-6783)CCT>GCT p.P2261A LAMA1_uc010wzj.1_Missense_Mutation_p.P1737A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2261 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCACAGCAGGAGATTTCTAA 0.413 10 44 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6997882 6997882 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:6997882G>T uc002knm.2 - 33 4759 c.4665C>A c.(4663-4665)TCC>TCA p.S1555S LAMA1_uc010wzj.1_Silent_p.S1031S NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1555 Laminin EGF-like 17. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATCATCACAGGCTACAAGAC 0.418 21 49 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21399941 21399941 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:21399941G>A uc002kuq.2 + 19 2370 c.2284G>A c.(2284-2286)GCC>ACC p.A762T LAMA3_uc002kur.2_Missense_Mutation_p.A762T NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 762 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGAGGATATGCCCAAATGAC 0.502 6 18 --- --- --- --- PASS RIT2 6014 broad.mit.edu 37 18 40323598 40323598 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:40323598C>A uc002lav.2 - 5 687 c.514G>T c.(514-516)GAT>TAT p.D172Y RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 172 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 TGAAAAGCATCATCAATACAG 0.418 18 63 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64172254 64172254 + Missense_Mutation SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:64172254T>C uc002lkc.1 - 12 2252 c.2114A>G c.(2113-2115)GAA>GGA p.E705G CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 705 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) AGTATTAGCTTCTTCGAGCTT 0.488 41 57 --- --- --- --- PASS SOCS6 9306 broad.mit.edu 37 18 67992174 67992174 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:67992174G>T uc002lkr.1 + 2 586 c.270G>T c.(268-270)AAG>AAT p.K90N SOCS6_uc010dqq.2_Missense_Mutation_p.K90N NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 90 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CAAAAGGCAAGGCGGGCACAC 0.517 14 27 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 77119463 77119463 + Splice_Site SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr18:77119463G>T uc002lmx.2 + 26 3026 c.3012_splice c.e26+1 p.K1004_splice ATP9B_uc002lmw.1_Splice_Site_p.K1004_splice|ATP9B_uc002lmz.1_Missense_Mutation_p.V699L|ATP9B_uc002lna.2_Splice_Site_p.K30_splice|ATP9B_uc002lnb.1_Splice_Site_p.G103_splice|ATP9B_uc010drb.2_Splice_Site NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CCTCACCAAGGTACGGGCCTC 0.537 5 13 --- --- --- --- PASS FEM1A 55527 broad.mit.edu 37 19 4792420 4792420 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:4792420C>A uc002mbf.2 + 1 693 c.554C>A c.(553-555)ACG>AAG p.T185K uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 185 ANK 6. regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AAGGGCAACACGGCCCTGCAT 0.677 4 18 --- --- --- --- PASS TNFSF14 8740 broad.mit.edu 37 19 6665114 6665114 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:6665114G>T uc002mfk.1 - 5 928 c.546C>A c.(544-546)AGC>AGA p.S182R TNFSF14_uc002mfj.1_Missense_Mutation_p.S146R NM_003807 NP_003798 O43557 TNF14_HUMAN tumor necrosis factor ligand superfamily, member 182 Extracellular (Potential). cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 GTGACTGCTGGCTGACCAACA 0.692 18 31 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9074571 9074571 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:9074571C>T uc002mkp.2 - 3 13079 c.12875G>A c.(12874-12876)GGC>GAC p.G4292D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4294 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 CTCGGAGGAGCCAAATACTGA 0.517 10 23 --- --- --- --- PASS PRKCSH 5589 broad.mit.edu 37 19 11559430 11559430 + Silent SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:11559430G>A uc002mrt.2 + 14 1587 c.1251G>A c.(1249-1251)GAG>GAA p.E417E PRKCSH_uc002mru.2_Silent_p.E414E|PRKCSH_uc010xlz.1_Silent_p.E424E|PRKCSH_uc010dya.2_Silent_p.E199E|PRKCSH_uc010dyb.2_Silent_p.E414E NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 417 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 AGTGCTACGAGCTCACCACCA 0.612 19 37 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23578143 23578143 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:23578143G>T uc002nre.2 - 1 127 c.14C>A c.(13-15)CCT>CAT p.P5H ZNF91_uc010xrj.1_Missense_Mutation_p.P5H NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 5 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAGGCTTCCAGGGGTTCCTGG 0.622 12 45 --- --- --- --- PASS ZNF146 7705 broad.mit.edu 37 19 36727458 36727458 + Missense_Mutation SNP C G G TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:36727458C>G uc002odq.3 + 4 1639 c.116C>G c.(115-117)ACG>AGG p.T39R ZNF146_uc010eet.2_Missense_Mutation_p.T39R|ZNF146_uc010eeu.2_Missense_Mutation_p.T39R NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 39 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) CATTTTCACACGAGAGAGAAA 0.428 15 54 --- --- --- --- PASS PSG1 5669 broad.mit.edu 37 19 43382112 43382112 + Missense_Mutation SNP T A A rs1058668 byFrequency TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:43382112T>A uc002ovb.2 - 2 521 c.383A>T c.(382-384)GAT>GTT p.D128V PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.D128V|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.D128V|PSG1_uc010eio.1_Missense_Mutation_p.D128V|PSG1_uc002oux.1_Missense_Mutation_p.D57V|PSG1_uc002ouy.1_Missense_Mutation_p.D128V|PSG1_uc002ouz.1_Missense_Mutation_p.D128V|PSG1_uc002ova.1_Missense_Mutation_p.D128V|PSG1_uc002ovc.2_Missense_Mutation_p.D128V|PSG1_uc002ovd.1_Missense_Mutation_p.D128V NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 128 Ig-like V-type. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) AGTCCCATCATCTCCCTTTAT 0.498 61 161 --- --- --- --- PASS ZNF221 7638 broad.mit.edu 37 19 44469153 44469153 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:44469153G>T uc002oxx.2 + 4 461 c.133G>T c.(133-135)GGG>TGG p.G45W ZNF221_uc010ejb.1_Missense_Mutation_p.G45W|ZNF221_uc010xws.1_Missense_Mutation_p.G45W NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) GGAGGAGCTGGGGCTGCTGGA 0.488 47 91 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369053 56369053 + Silent SNP C A A rs149802462 TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr19:56369053C>A uc002qmd.3 + 3 716 c.294C>A c.(292-294)ACC>ACA p.T98T NLRP4_uc002qmf.2_Silent_p.T23T|NLRP4_uc010etf.2_5'UTR NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 98 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) ACACAAAGACCTATCAAGCTC 0.418 13 34 --- --- --- --- PASS CD93 22918 broad.mit.edu 37 20 23065078 23065078 + Missense_Mutation SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr20:23065078G>T uc002wsv.2 - 1 1900 c.1752C>A c.(1750-1752)TTC>TTA p.F584L NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 584 Helical; (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CTAGGATGTAGAATAAAAGCA 0.607 32 96 --- --- --- --- PASS ACSS2 55902 broad.mit.edu 37 20 33508829 33508829 + Silent SNP T C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr20:33508829T>C uc002xbd.2 + 10 1285 c.1164T>C c.(1162-1164)TAT>TAC p.Y388Y ACSS2_uc002xbc.2_Silent_p.Y293Y|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Silent_p.Y401Y|ACSS2_uc002xbe.2_Silent_p.Y96Y|ACSS2_uc002xbf.2_Intron NM_018677 NP_061147 Q9NR19 ACSA_HUMAN acyl-CoA synthetase short-chain family member 2 388 ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process cytosol|nucleus acetate-CoA ligase activity|ATP binding|protein binding 0 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TTCCCACATATCCGGACGTGA 0.502 55 103 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33657206 33657206 + Missense_Mutation SNP G A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr20:33657206G>A uc002xbk.2 - 3 341 c.307C>T c.(307-309)CCT>TCT p.P103S TRPC4AP_uc002xbl.2_Missense_Mutation_p.P103S|TRPC4AP_uc010zur.1_Intron|TRPC4AP_uc002xbm.1_Missense_Mutation_p.P103S NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 103 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) GAGAGAAGAGGAGAAATTTCC 0.368 12 28 --- --- --- --- PASS TOX2 84969 broad.mit.edu 37 20 42694617 42694617 + Missense_Mutation SNP C A A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr20:42694617C>A uc002xlf.3 + 6 1189 c.1172C>A c.(1171-1173)CCC>CAC p.P391H TOX2_uc010ggo.2_Missense_Mutation_p.P409H|TOX2_uc002xle.3_Missense_Mutation_p.P367H|TOX2_uc010ggp.2_Missense_Mutation_p.P367H|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Missense_Mutation_p.P287H NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 391 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTGTCACTGCCCCCTCACGCC 0.706 8 15 --- --- --- --- PASS PPP1R3D 5509 broad.mit.edu 37 20 58514346 58514346 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr20:58514346C>T uc002ybb.2 - 1 1007 c.641G>A c.(640-642)CGC>CAC p.R214H C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 214 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) GTGGGTACTGCGCCAGCCCGA 0.672 3 34 --- --- --- --- PASS TAB3 257397 broad.mit.edu 37 X 30873661 30873661 + Missense_Mutation SNP C T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chrX:30873661C>T uc004dcj.2 - 6 784 c.121G>A c.(121-123)GCC>ACC p.A41T TAB3_uc004dck.2_Missense_Mutation_p.A41T|TAB3_uc010ngl.2_Missense_Mutation_p.A41T NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN mitogen-activated protein kinase kinase kinase 7 41 CUE. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding ovary(1) 1 CGGCAACAGGCTTCAAGATTG 0.373 8 21 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70466473 70466473 + Missense_Mutation SNP G C C TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chrX:70466473G>C uc004dzh.1 - 14 2471 c.2384C>G c.(2383-2385)ACC>AGC p.T795S BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.T795S|ZMYM3_uc004dzj.1_Intron NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 795 multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) TTCCTCTGGGGTCCTCACTGT 0.507 10 6 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464700 104464700 + Silent SNP G T T TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chrX:104464700G>T uc004ema.2 - 2 494 c.382C>A c.(382-384)CGG>AGG p.R128R IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.R128R NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 128 intracellular zinc ion binding ovary(2) 2 ATTCTTAGCCGGGAGGCCGCC 0.592 21 14 --- --- --- --- PASS WRNIP1 56897 broad.mit.edu 37 6 2766468 2766469 + Frame_Shift_Ins INS - G G rs148900120 by1000genomes TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr6:2766468_2766469insG uc003mtz.2 + 1 803_804 c.612_613insG c.(610-615)GGCGGGfs p.G204fs WRNIP1_uc003mua.2_Frame_Shift_Ins_p.G204fs NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Werner helicase interacting protein isoform 1 204_205 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding ovary(1)|pancreas(1) 2 Ovarian(93;0.0412) all_hematologic(90;0.0895) GGGCCAGTggcgggggccgccc 0.465 4 2 --- --- --- --- ST8SIA6 338596 broad.mit.edu 37 10 17365142 17365142 + Frame_Shift_Del DEL G - - TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr10:17365142delG uc001ipd.2 - 7 650 c.650delC c.(649-651)CCAfs p.P217fs ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 217 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 TCCTGTGGTTGGGGGTAGGTT 0.279 56 30 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - - rs144216147 by1000genomes TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC uc001lty.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)GGAGGCTGTGGGGGCTGTGGCTCCGGCTGTGCG>GGG p.GCGGCGSGCA44del NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 44_53 A -> G (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.187 26 13 --- --- --- --- SLC6A4 6532 broad.mit.edu 37 17 28545947 28545947 + Frame_Shift_Del DEL C - - TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chr17:28545947delC uc002hey.3 - 4 890 c.346delG c.(346-348)GCAfs p.A116fs NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 116 Helical; Name=2; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) AGGAGGAATGCCCCTGAGGCA 0.527 43 19 --- --- --- --- TGIF2LX 90316 broad.mit.edu 37 X 89177283 89177283 + Frame_Shift_Del DEL G - - TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 24e426fb-219a-4a4d-a45c-c9b0896d0e88 77dda1a1-3c2e-488d-9cd0-da78dba549ec g.chrX:89177283delG uc004efe.2 + 2 248 c.199delG c.(199-201)GACfs p.D67fs NM_138960 NP_620410 Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 67 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GATCCTCCGCGACTGGATGTA 0.468 37 34 --- --- --- ---