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 C1orf94 84970 broad.mit.edu 37 1 34663136 34663136 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:34663136C>G uc001bxs.3 + 2 460 c.61C>G c.(61-63)CTG>GTG p.L21V C1orf94_uc001bxt.2_Missense_Mutation_p.L211V NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 21 protein binding 0 Myeloproliferative disorder(586;0.0393) CACAGACATTCTGTGTGCCGC 0.557 28 109 --- --- --- --- PASS ZMYM1 79830 broad.mit.edu 37 1 35579681 35579681 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:35579681G>T uc001bym.2 + 11 2398 c.2250G>T c.(2248-2250)TTG>TTT p.L750F ZMYM1_uc001byn.2_Missense_Mutation_p.L750F|ZMYM1_uc010ohu.1_Missense_Mutation_p.L731F|ZMYM1_uc001byo.2_Missense_Mutation_p.L390F|ZMYM1_uc009vut.2_Missense_Mutation_p.L675F NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM domain containing 1 750 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CACACTTTTTGGATTTATCAA 0.303 18 80 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39788297 39788297 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:39788297G>A uc010ois.1 + 33 4267 c.4062G>A c.(4060-4062)CTG>CTA p.L1354L MACF1_uc001cda.1_Silent_p.L1262L|MACF1_uc001cdc.1_Silent_p.L441L|MACF1_uc009vvq.1_Silent_p.L411L|MACF1_uc001cdb.1_Silent_p.L441L NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1354 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AATTGCAACTGATGACATACA 0.428 24 162 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62228771 62228771 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:62228771A>G uc001dab.2 + 3 223 c.109A>G c.(109-111)ATG>GTG p.M37V INADL_uc009waf.1_Missense_Mutation_p.M37V|INADL_uc001daa.2_Missense_Mutation_p.M37V NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 37 L27. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GAAGTTATCTATGTTTTATGA 0.438 37 84 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76387993 76387993 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:76387993G>T uc001dhe.1 - 2 593 c.453C>A c.(451-453)CTC>CTA p.L151L ASB17_uc001dhf.1_Intron NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 151 ANK. intracellular signal transduction ovary(1) 1 CTACATAAAAGAGAGGTGTGA 0.328 33 57 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102312450 102312450 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:102312450G>T uc001duf.2 - 1 151 c.80C>A c.(79-81)CCA>CAA p.P27Q OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 27 extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CACCAAGGATGGGAGAGTTTG 0.498 47 126 --- --- --- --- PASS CD101 9398 broad.mit.edu 37 1 117564311 117564311 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:117564311A>T uc010oxb.1 + 7 2192 c.2134A>T c.(2134-2136)ATT>TTT p.I712F CD101_uc009whd.2_Missense_Mutation_p.I712F|CD101_uc010oxc.1_Missense_Mutation_p.I712F|CD101_uc010oxd.1_Missense_Mutation_p.I650F NM_004258 NP_004249 Q93033 IGSF2_HUMAN immunoglobulin superfamily, member 2 precursor 712 Ig-like C2-type 6.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GTTAGCCATTATTTGGTATTT 0.428 40 78 --- --- --- --- PASS GJA5 2702 broad.mit.edu 37 1 147230638 147230638 + Nonsense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:147230638G>A uc001eps.1 - 2 850 c.709C>T c.(709-711)CGA>TGA p.R237* GJA5_uc001ept.1_Nonsense_Mutation_p.R237* NM_181703 NP_859054 P36382 CXA5_HUMAN connexin 40 237 Cytoplasmic (Potential). angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane ovary(1) 1 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TTGACAAATCGCTGTCTGATC 0.547 17 112 --- --- --- --- PASS HCN3 57657 broad.mit.edu 37 1 155255034 155255034 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:155255034C>T uc001fjz.1 + 5 1176 c.1168C>T c.(1168-1170)CAC>TAC p.H390Y RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.H85Y NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 390 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GTACTATGAGCACCGCTACCA 0.627 38 63 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175292529 175292529 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:175292529G>A uc001gkp.1 - 21 4122 c.4041C>T c.(4039-4041)CTC>CTT p.L1347L TNR_uc009wwu.1_Silent_p.L1347L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1347 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TCCCTGCCATGAGACGGTGGT 0.473 26 262 --- --- --- --- PASS RGL1 23179 broad.mit.edu 37 1 183857628 183857628 + Missense_Mutation SNP T G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:183857628T>G uc001gqo.2 + 8 1129 c.972T>G c.(970-972)AAT>AAG p.N324K RGL1_uc010pof.1_Missense_Mutation_p.N129K|RGL1_uc001gqm.2_Missense_Mutation_p.N359K|RGL1_uc010pog.1_Missense_Mutation_p.N322K|RGL1_uc010poh.1_Missense_Mutation_p.N322K|RGL1_uc010poi.1_Missense_Mutation_p.N324K NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 324 Ras-GEF. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 TCCTGAAGAATTTTTCCTCCT 0.418 45 531 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214170587 214170587 + Nonsense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:214170587C>T uc001hkh.2 + 2 981 c.709C>T c.(709-711)CGA>TGA p.R237* PROX1_uc001hkg.1_Nonsense_Mutation_p.R237* NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 237 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGAGGAGCGCCGACAGCTGAA 0.498 38 66 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216498814 216498814 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:216498814C>T uc001hku.1 - 6 1363 c.976G>A c.(976-978)GAC>AAC p.D326N USH2A_uc001hkv.2_Missense_Mutation_p.D326N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 326 Laminin N-terminal.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TCAGCTGTGTCTCCTGCATCA 0.488 HNSCC(13;0.011) 71 154 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236898981 236898981 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:236898981C>T uc001hyf.2 + 8 948 c.744C>T c.(742-744)TAC>TAT p.Y248Y ACTN2_uc001hyg.2_Silent_p.Y3Y|ACTN2_uc009xgi.1_Intron|ACTN2_uc010pxu.1_Intron NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 248 CH 2.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCATGACGTACGTCTCTTGCT 0.522 55 74 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777602 237777602 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:237777602A>T uc001hyl.1 + 37 5294 c.5174A>T c.(5173-5175)TAC>TTC p.Y1725F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1725 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACAACGAGTACATTGTCCCC 0.542 28 59 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237777665 237777665 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:237777665A>G uc001hyl.1 + 37 5357 c.5237A>G c.(5236-5238)CAC>CGC p.H1746R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1746 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AACAAAAAACACGGCCTTCCA 0.512 8 101 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237870500 237870500 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:237870500G>C uc001hyl.1 + 68 9952 c.9832G>C c.(9832-9834)GGG>CGG p.G3278R RYR2_uc010pxz.1_Missense_Mutation_p.G233R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3278 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CACACTTCTAGGGAACATATT 0.478 4 52 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247615099 247615099 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:247615099G>T uc010pyx.1 - 1 186 c.186C>A c.(184-186)CCC>CCA p.P62P NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGATGTACATGGGGCTGTGGA 0.572 149 168 --- --- --- --- PASS OR2B11 127623 broad.mit.edu 37 1 247615100 247615100 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:247615100G>T uc010pyx.1 - 1 185 c.185C>A c.(184-186)CCC>CAC p.P62H NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GATGTACATGGGGCTGTGGAG 0.577 148 166 --- --- --- --- PASS ZNF692 55657 broad.mit.edu 37 1 249152384 249152384 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr1:249152384T>C uc001ifc.1 - 2 292 c.125A>G c.(124-126)AAG>AGG p.K42R ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_5'Flank|ZNF692_uc001ifb.1_5'UTR|ZNF692_uc001ifd.1_Missense_Mutation_p.K42R|ZNF692_uc001ife.1_RNA|ZNF692_uc001iff.1_Missense_Mutation_p.K42R|ZNF692_uc010pzr.1_Missense_Mutation_p.K47R NM_017865 NP_060335 Q9BU19 ZN692_HUMAN zinc finger protein 692 isoform 2 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CAGCCGCTCCTTGAGGAGGCA 0.701 26 20 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15449304 15449304 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:15449304G>T uc002rcc.1 - 39 4676 c.4650C>A c.(4648-4650)GCC>GCA p.A1550A NBAS_uc010exl.1_Silent_p.A622A|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1550 ovary(2)|liver(1)|skin(1) 4 CTTGTGGTAAGGCAAGAAGGT 0.358 12 84 --- --- --- --- PASS GEN1 348654 broad.mit.edu 37 2 17963069 17963069 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:17963069G>T uc002rct.2 + 14 2663 c.2590G>T c.(2590-2592)GAA>TAA p.E864* SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Nonsense_Mutation_p.E864*|GEN1_uc002rcu.2_Nonsense_Mutation_p.E864* NM_182625 NP_872431 Q17RS7 GEN_HUMAN Gen homolog 1, endonuclease 864 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(5)|kidney(1)|central_nervous_system(1)|skin(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TGAAAATGAAGAAAGCTGTTT 0.363 Homologous_recombination 13 132 --- --- --- --- PASS HADHB 3032 broad.mit.edu 37 2 26501540 26501540 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:26501540G>A uc002rgz.2 + 8 752 c.501G>A c.(499-501)TTG>TTA p.L167L HADHB_uc010ykv.1_Silent_p.L145L|HADHB_uc010ykw.1_Silent_p.L152L|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Silent_p.L93L NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 167 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGTTGAGTTGATGTCCGATG 0.438 19 142 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32832622 32832622 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:32832622C>T uc010ezu.2 + 72 14305 c.14171C>T c.(14170-14172)TCT>TTT p.S4724F NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4724 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACACAGAGTTCTCGAGAATAT 0.423 43 303 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39249797 39249797 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:39249797T>C uc002rrk.3 - 10 1813 c.1772A>G c.(1771-1773)AAC>AGC p.N591S SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.N205S|SOS1_uc002rrl.2_Missense_Mutation_p.N323S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 591 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GGGCTGCATGTTCTCTTCAAA 0.403 Noonan_syndrome 32 266 --- --- --- --- PASS SPTBN1 6711 broad.mit.edu 37 2 54893114 54893114 + Missense_Mutation SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:54893114A>C uc002rxu.2 + 34 6971 c.6722A>C c.(6721-6723)AAG>ACG p.K2241T SPTBN1_uc010you.1_Missense_Mutation_p.K231T NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2241 PH. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AAAGATGCAAAGACTGCTGCT 0.433 65 418 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89266047 89266047 + RNA SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:89266047A>T uc010ytr.1 - 95 c.7519T>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. GAGGATGGAGACTGGGTCATC 0.463 52 359 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100210203 100210203 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:100210203C>G uc002tag.2 - 14 2156 c.1920G>C c.(1918-1920)GAG>GAC p.E640D AFF3_uc002taf.2_Missense_Mutation_p.E665D|AFF3_uc010fiq.1_Missense_Mutation_p.E640D|AFF3_uc010yvr.1_Missense_Mutation_p.E793D|AFF3_uc002tah.1_Missense_Mutation_p.E665D NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 640 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 AGGAGCGCAGCTCCTTGCGGT 0.657 19 111 --- --- --- --- PASS WDR33 55339 broad.mit.edu 37 2 128466368 128466368 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:128466368C>T uc002tpg.1 - 21 3847 c.3664G>A c.(3664-3666)GGC>AGC p.G1222S NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 1222 postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) ATGTCCATGCCTTGGAGAGAA 0.602 21 118 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135012094 135012094 + Silent SNP T G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:135012094T>G uc002ttv.1 + 1 265 c.120T>G c.(118-120)CCT>CCG p.P40P NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 40 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) GAACTCAGCCTGAAAGCAGCT 0.517 8 57 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136570015 136570015 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:136570015G>A uc002tuu.1 - 7 2230 c.2219C>T c.(2218-2220)TCC>TTC p.S740F NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 740 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GTATTCCAGGGATACAAACTG 0.498 34 169 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152512352 152512352 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:152512352C>T uc010fnx.2 - 50 6872 c.6681G>A c.(6679-6681)CAG>CAA p.Q2227Q NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2227 Nebulin 59. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TATGTGCATTCTGCTTGGCAA 0.493 34 205 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152527701 152527701 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:152527701C>T uc010fnx.2 - 38 4533 c.4342G>A c.(4342-4344)GGA>AGA p.G1448R NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1448 Nebulin 37. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGATCCATCCGATGCCCTTC 0.438 13 89 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160303431 160303431 + Silent SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:160303431T>C uc002uao.2 - 6 910 c.558A>G c.(556-558)ACA>ACG p.T186T BAZ2B_uc002uap.2_Silent_p.T184T|BAZ2B_uc002uas.1_Silent_p.T123T|BAZ2B_uc002uau.1_Silent_p.T184T|BAZ2B_uc002uaq.1_Silent_p.T114T|BAZ2B_uc002uat.3_Silent_p.T123T|BAZ2B_uc010fop.1_Silent_p.T184T NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 186 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 ATAGTACAGATGTGTTGATAC 0.303 42 154 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166788360 166788360 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:166788360T>A uc002udk.2 - 8 935 c.802A>T c.(802-804)ACC>TCC p.T268S TTC21B_uc002udl.2_Missense_Mutation_p.T268S|uc002udm.1_5'Flank NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 268 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TCCAGCTTGGTGGAAGCCTAA 0.368 14 75 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179473085 179473085 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:179473085G>C uc010zfg.1 - 224 45045 c.44821C>G c.(44821-44823)CGT>GGT p.R14941G uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8636G|TTN_uc010zfi.1_Missense_Mutation_p.R8569G|TTN_uc010zfj.1_Missense_Mutation_p.R8444G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15868 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) TTAACTTCACGTTTTTCAAGC 0.408 7 34 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604796 179604796 + Silent SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:179604796T>A uc010zfh.1 - 46 12875 c.12651A>T c.(12649-12651)CCA>CCT p.P4217P TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.P4150P|TTN_uc010zfj.1_Silent_p.P4025P|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTGCTCTTCTGGAATACCAG 0.463 21 135 --- --- --- --- PASS HSPD1 3329 broad.mit.edu 37 2 198358950 198358950 + Silent SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:198358950A>G uc002uui.2 - 6 768 c.631T>C c.(631-633)TTA>CTA p.L211L HSPD1_uc002uuj.2_Silent_p.L209L|HSPD1_uc010zgx.1_Silent_p.L202L|HSPD1_uc010fsm.2_Silent_p.L22L|HSPD1_uc002uuk.2_Silent_p.L211L NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 211 '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) ATAATTTCTAATTCATCATTC 0.279 13 87 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211460215 211460215 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:211460215C>T uc002vee.3 + 13 1400 c.1268C>T c.(1267-1269)TCC>TTC p.S423F CPS1_uc010fur.2_Missense_Mutation_p.S429F|CPS1_uc010fus.2_5'UTR NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 423 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTATAGGTTTCCAAAGTCCTT 0.393 49 254 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228882388 228882388 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:228882388G>A uc002vpq.2 - 7 3229 c.3182C>T c.(3181-3183)GCG>GTG p.A1061V SPHKAP_uc002vpp.2_Missense_Mutation_p.A1061V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1061V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1061 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATAGCCCTGCGCCTGCCACAT 0.557 21 123 --- --- --- --- PASS C2orf85 285093 broad.mit.edu 37 2 242814310 242814310 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:242814310C>T uc010fzu.1 + 2 626 c.603C>T c.(601-603)GTC>GTT p.V201V NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 201 integral to membrane ovary(1) 1 GTGGCGTTGTCATCGCCATCC 0.677 11 57 --- --- --- --- PASS C2orf85 285093 broad.mit.edu 37 2 242814556 242814556 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr2:242814556C>A uc010fzu.1 + 2 872 c.849C>A c.(847-849)TTC>TTA p.F283L NM_173821 NP_776182 Q14D33 CB085_HUMAN hypothetical protein LOC285093 283 integral to membrane ovary(1) 1 TCCAGACCTTCGAGCTCAAGG 0.677 27 139 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36896951 36896951 + Missense_Mutation SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:36896951A>C uc003cgj.2 - 3 2782 c.2480T>G c.(2479-2481)CTG>CGG p.L827R NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1377 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 GAGCTTCGACAGCCTCCGGGA 0.502 101 231 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36898598 36898598 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:36898598G>A uc003cgj.2 - 3 1135 c.833C>T c.(832-834)ACC>ATC p.T278I NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 828 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 CAGGCCCTGGGTCCACTCGCC 0.512 36 177 --- --- --- --- PASS CTNNB1 1499 broad.mit.edu 37 3 41280628 41280628 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:41280628C>G uc010hia.1 + 16 2297 c.2141C>G c.(2140-2142)CCT>CGT p.P714R CTNNB1_uc003ckp.2_Missense_Mutation_p.P714R|CTNNB1_uc003ckq.2_Missense_Mutation_p.P714R|CTNNB1_uc003ckr.2_Missense_Mutation_p.P714R|CTNNB1_uc011azf.1_Missense_Mutation_p.P707R|CTNNB1_uc011azg.1_Missense_Mutation_p.P642R NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 714 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTTCTAGATCCTAGCTATCGT 0.502 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 52 148 --- --- --- --- PASS HIGD1A 25994 broad.mit.edu 37 3 42827622 42827622 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:42827622C>T uc003cma.3 - 3 276 c.130G>A c.(130-132)GGA>AGA p.G44R HIGD1A_uc010hid.2_Missense_Mutation_p.G58R|HIGD1A_uc003cmb.3_Missense_Mutation_p.G44R NM_001099669 NP_001093139 Q9Y241 HIG1A_HUMAN HIG1 domain family, member 1A isoform b 44 Helical; (Potential).|HIG1. response to stress integral to membrane|protein complex protein binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTATATAATCCATATGCAACA 0.413 14 123 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48612109 48612109 + Splice_Site SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:48612109C>T uc003ctz.2 - 77 6394 c.6393_splice c.e77+1 p.R2131_splice NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGAGGCCTCACCCTGTCTCCT 0.632 59 121 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74413659 74413659 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:74413659T>C uc003dpm.1 - 9 1252 c.1172A>G c.(1171-1173)AAA>AGA p.K391R NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 391 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AAGGCCATGTTTGTTTTCTGC 0.373 24 199 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74418477 74418477 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:74418477G>A uc003dpm.1 - 7 889 c.809C>T c.(808-810)TCC>TTC p.S270F NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 270 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) AATTTTGCTGGAAAATGGCAG 0.408 12 169 --- --- --- --- PASS PHLDB2 90102 broad.mit.edu 37 3 111686651 111686651 + Silent SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:111686651A>C uc010hqa.2 + 15 3706 c.3295A>C c.(3295-3297)AGG>CGG p.R1099R PHLDB2_uc003dyc.2_Silent_p.R1083R|PHLDB2_uc003dyd.2_Silent_p.R1056R|PHLDB2_uc003dyg.2_Silent_p.R1099R|PHLDB2_uc003dyh.2_Silent_p.R1056R|PHLDB2_uc003dyi.2_Silent_p.R590R|PHLDB2_uc003dyj.2_Silent_p.R154R NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 1099 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 AGTAAAAATAAGGGAGAGACA 0.478 OREG0015707 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 72 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140407246 140407246 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:140407246C>A uc003eto.1 + 3 1913 c.1722C>A c.(1720-1722)TAC>TAA p.Y574* NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 574 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TCTACACCTACTGGAGTGCTG 0.582 28 178 --- --- --- --- PASS SLC25A36 55186 broad.mit.edu 37 3 140692756 140692756 + Missense_Mutation SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:140692756A>C uc003etr.2 + 6 886 c.651A>C c.(649-651)GAA>GAC p.E217D SLC25A36_uc003ets.2_Missense_Mutation_p.E217D|SLC25A36_uc003etq.2_Missense_Mutation_p.E60D|SLC25A36_uc011bmz.1_Missense_Mutation_p.E191D NM_001104647 NP_001098117 Q96CQ1 S2536_HUMAN solute carrier family 25, member 36 isoform a 217 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 AAAATGATGAAGAGTCTGTGA 0.358 26 106 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128534 147128534 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:147128534C>A uc003ewe.2 + 1 1354 c.635C>A c.(634-636)GCC>GAC p.A212D NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 212 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGCGCCGGCGCCTTCTTCCGC 0.627 96 67 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907944 164907944 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:164907944C>T uc003fej.3 - 2 1119 c.675G>A c.(673-675)ATG>ATA p.M225I SLITRK3_uc003fek.2_Missense_Mutation_p.M225I NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 225 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 GCTGGAGCTCCATCAGGCTTC 0.443 HNSCC(40;0.11) 21 404 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179472565 179472565 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:179472565G>T uc003fkh.2 + 15 1925 c.1844G>T c.(1843-1845)CGA>CTA p.R615L USP13_uc003fkf.2_Nonsense_Mutation_p.E543* NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 615 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AACCATCTCCGAGCCAGGGGG 0.453 41 874 --- --- --- --- PASS KLHL24 54800 broad.mit.edu 37 3 183368735 183368735 + Silent SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:183368735T>C uc003flv.2 + 3 886 c.591T>C c.(589-591)GAT>GAC p.D197D KLHL24_uc003flw.2_Silent_p.D197D|KLHL24_uc003flx.2_Silent_p.D197D NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 197 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CTTTTGAGGATGTATCCCAGC 0.358 35 737 --- --- --- --- PASS SENP2 59343 broad.mit.edu 37 3 185316310 185316310 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:185316310C>T uc003fpn.2 + 3 439 c.268C>T c.(268-270)CGG>TGG p.R90W SENP2_uc011brv.1_Missense_Mutation_p.R80W|SENP2_uc011brw.1_Translation_Start_Site NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 90 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) TAATGGAACACGGAATGTGGC 0.418 26 481 --- --- --- --- PASS C3orf65 646600 broad.mit.edu 37 3 185434530 185434530 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:185434530C>T uc003fpr.2 + 2 539 c.363C>T c.(361-363)GTC>GTT p.V121V IGF2BP2_uc010hyi.2_Intron|IGF2BP2_uc010hyj.2_Intron|IGF2BP2_uc010hyk.2_Intron|IGF2BP2_uc010hyl.2_Intron|IGF2BP2_uc003fpo.2_Intron|IGF2BP2_uc003fpp.2_Intron|IGF2BP2_uc003fpq.2_Intron|C3orf65_uc003fps.3_Intron NR_027317 RecName: Full=Putative uncharacterized protein C3orf65; 0 all_cancers(143;1.5e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GCTGGCTGGTCATCAGAATGG 0.537 25 472 --- --- --- --- PASS TPRG1 285386 broad.mit.edu 37 3 188933167 188933167 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:188933167G>A uc003frv.1 + 8 1524 c.297G>A c.(295-297)TTG>TTA p.L99L TPRG1_uc003frw.1_Silent_p.L99L NM_198485 NP_940887 Q6ZUI0 TPRG1_HUMAN tumor protein p63 regulated 1 99 0 all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925) all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255) Lung(62;6.93e-06) GBM - Glioblastoma multiforme(93;4.77e-14) TCTGGCTCTTGACAAAGTGAG 0.493 121 145 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:192516720G>C uc011bsp.1 - 2 1252 c.931C>G c.(931-933)CAG>GAG p.Q311E NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 311 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TTGCAGGCCTGATAGGCCTGC 0.557 19 172 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193183889 193183889 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:193183889G>A uc003ftd.2 - 11 1305 c.1197C>T c.(1195-1197)ATC>ATT p.I399I ATP13A4_uc003fte.1_Silent_p.I399I|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Silent_p.I105I NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 399 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGAGGAACCTGATGGCATCCC 0.453 104 606 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195480067 195480067 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr3:195480067G>T uc011bto.1 - 21 15439 c.14979C>A c.(14977-14979)TCC>TCA p.S4993S MUC4_uc010hzq.2_Translation_Start_Site|MUC4_uc003fuz.2_Silent_p.S719S|MUC4_uc003fva.2_Silent_p.S601S|MUC4_uc003fvb.2_Silent_p.S637S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.S637S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.S601S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S685S|MUC4_uc011bti.1_Silent_p.S685S|MUC4_uc011btj.1_Silent_p.S862S|MUC4_uc011btk.1_Silent_p.S601S|MUC4_uc011btl.1_Silent_p.S630S|MUC4_uc011btm.1_Silent_p.S810S|MUC4_uc011btn.1_Silent_p.S601S|MUC4_uc003fvo.2_Silent_p.S885S|MUC4_uc003fvp.2_Silent_p.S834S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1878 EGF-like 1. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TCACAGGGCAGGACTGGTTCT 0.617 24 395 --- --- --- --- PASS PIGG 54872 broad.mit.edu 37 4 517609 517609 + Nonsense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr4:517609G>A uc003gak.3 + 9 2112 c.1976G>A c.(1975-1977)TGG>TAG p.W659* PIGG_uc003gaj.3_Nonsense_Mutation_p.W651*|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Nonsense_Mutation_p.W526*|PIGG_uc003gal.3_Nonsense_Mutation_p.W570* NM_001127178 NP_001120650 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, 659 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity central_nervous_system(2)|ovary(1)|skin(1) 4 GCCAGTCCGTGGCTAATACTG 0.642 7 15 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36075362 36075362 + Silent SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr4:36075362C>G uc003gsq.1 - 32 5030 c.4692G>C c.(4690-4692)CTG>CTC p.L1564L ARAP2_uc003gso.2_RNA NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1564 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GTATAGGAATCAGAGGCAAAC 0.363 34 162 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155461791 155461791 + Silent SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr4:155461791C>A uc003iny.2 - 10 957 c.894G>T c.(892-894)CCG>CCT p.P298P PLRG1_uc003inz.2_Silent_p.P289P|PLRG1_uc011cil.1_Silent_p.P137P NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 298 WD 3. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) CATCGATTGTCGGGTGCAAAT 0.378 35 118 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186380653 186380653 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr4:186380653A>G uc003ixu.3 - 6 1164 c.1088T>C c.(1087-1089)ATC>ACC p.I363T CCDC110_uc003ixv.3_Missense_Mutation_p.I326T|CCDC110_uc011ckt.1_Missense_Mutation_p.I363T NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 363 nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTGCCAGTGATGGGAATTTC 0.318 7 258 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10411627 10411627 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:10411627G>T uc003jet.1 + 19 2057 c.1874G>T c.(1873-1875)CGA>CTA p.R625L MARCH6_uc011cmu.1_Missense_Mutation_p.R577L|MARCH6_uc003jeu.1_Missense_Mutation_p.R323L|MARCH6_uc011cmv.1_Missense_Mutation_p.R520L NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 625 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 CCTTACCGCCGACCTTTAAAT 0.458 38 156 --- --- --- --- PASS FBXL7 23194 broad.mit.edu 37 5 15937245 15937245 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:15937245C>T uc003jfn.1 + 4 1907 c.1426C>T c.(1426-1428)CGC>TGC p.R476C NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 476 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CTTTGTCAAACGCCACTGCAA 0.577 18 39 --- --- --- --- PASS SLC45A2 51151 broad.mit.edu 37 5 33984399 33984399 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:33984399G>C uc003jid.2 - 1 382 c.290C>G c.(289-291)TCC>TGC p.S97C SLC45A2_uc003jie.2_Missense_Mutation_p.S97C|SLC45A2_uc003jif.3_Missense_Mutation_p.S97C|SLC45A2_uc011coe.1_Missense_Mutation_p.S97C NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 97 Cytoplasmic (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GCCCCACCTGGACCGGCAGTG 0.627 13 81 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42566037 42566037 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:42566037G>A uc003jmt.2 + 2 104 c.61G>A c.(61-63)GGA>AGA p.G21R GHR_uc011cpq.1_5'UTR NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 21 Extracellular (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGCTTTTTCTGGAAGTGAGGG 0.433 46 367 --- --- --- --- PASS C5orf28 64417 broad.mit.edu 37 5 43446438 43446438 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:43446438G>A uc003jny.2 - 3 677 c.534C>T c.(532-534)TTC>TTT p.F178F C5orf28_uc003jnv.3_Silent_p.F178F|C5orf28_uc003jnx.2_Silent_p.F178F NM_022483 NP_071928 Q0VDI3 CE028_HUMAN hypothetical protein LOC64417 178 Helical; (Potential). integral to membrane 0 Lung NSC(6;2.07e-05) CATAAAGCCAGAATGGCAAAG 0.378 68 168 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63257016 63257016 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:63257016G>A uc011cqt.1 - 1 531 c.531C>T c.(529-531)ACC>ACT p.T177T NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 177 Helical; Name=4; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GGTCTTCCGGGGTGCGCCAGC 0.597 54 287 --- --- --- --- PASS ADAMTS6 11174 broad.mit.edu 37 5 64484044 64484044 + Nonsense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:64484044C>T uc003jtp.2 - 22 3523 c.2709G>A c.(2707-2709)TGG>TGA p.W903* ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 903 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CCCCAATGAACCACCTGCAGC 0.493 41 253 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79033202 79033202 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:79033202C>T uc003kgc.2 + 2 8686 c.8614C>T c.(8614-8616)CAC>TAC p.H2872Y NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2872 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTCAAAGCACCACTTGGAGGC 0.403 11 218 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101834355 101834355 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:101834355C>T uc003knn.2 - 1 366 c.194G>A c.(193-195)CGA>CAA p.R65Q SLCO6A1_uc003kno.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knp.2_Missense_Mutation_p.R65Q|SLCO6A1_uc003knq.2_Missense_Mutation_p.R65Q NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 65 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTTCCTTTTTCGGAAACCGCC 0.542 71 409 --- --- --- --- PASS FNIP1 96459 broad.mit.edu 37 5 131034692 131034692 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:131034692T>C uc003kvs.1 - 11 1262 c.1120A>G c.(1120-1122)ATG>GTG p.M374V RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.M346V|FNIP1_uc010jdm.1_Missense_Mutation_p.M329V|FNIP1_uc003kvu.2_Missense_Mutation_p.M374V NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 374 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) CTCATTTTCATAGCCTTGAAA 0.358 45 123 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594235 140594235 + Silent SNP G T T rs112800248 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:140594235G>T uc003lja.1 + 1 727 c.540G>T c.(538-540)CGG>CGT p.R180R NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 180 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTATTTTCGGGTCCTCACCC 0.498 34 129 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140740288 140740288 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:140740288C>G uc003ljs.1 + 1 586 c.586C>G c.(586-588)CTA>GTA p.L196V 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.L196V NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 196 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) TGAGTTGATTCTAAAACACTC 0.463 11 133 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140778505 140778505 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:140778505G>T uc003lkf.1 + 1 811 c.811G>T c.(811-813)GAG>TAG p.E271* 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_uc011daw.1_Nonsense_Mutation_p.E271* NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 271 Extracellular (Potential).|Cadherin 3. 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) TGACCAAGACGAGGGCATCAA 0.473 34 188 --- --- --- --- PASS PPARGC1B 133522 broad.mit.edu 37 5 149216209 149216209 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:149216209G>A uc003lrc.2 + 8 2233 c.2191G>A c.(2191-2193)GAG>AAG p.E731K PPARGC1B_uc003lrb.1_Missense_Mutation_p.E731K|PPARGC1B_uc003lrd.2_Missense_Mutation_p.E692K|PPARGC1B_uc003lrf.2_Missense_Mutation_p.E710K|PPARGC1B_uc003lre.1_Missense_Mutation_p.E710K NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor 731 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCCTTGGGCTGAGGCACAGGC 0.652 23 102 --- --- --- --- PASS FOXI1 2299 broad.mit.edu 37 5 169535196 169535196 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:169535196G>T uc003mai.3 + 2 763 c.718G>T c.(718-720)GTG>TTG p.V240L FOXI1_uc003maj.3_Intron NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 240 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGTCTCCCGGTGGACAGCCC 0.577 Pendred_syndrome 22 153 --- --- --- --- PASS GPRIN1 114787 broad.mit.edu 37 5 176026691 176026691 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:176026691G>C uc003meo.1 - 2 320 c.145C>G c.(145-147)CAG>GAG p.Q49E NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN G protein-regulated inducer of neurite outgrowth 49 growth cone|plasma membrane ovary(2) 2 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCTTTTGCTGGGAGGGGCAG 0.662 55 189 --- --- --- --- PASS DDX41 51428 broad.mit.edu 37 5 176939832 176939832 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:176939832C>A uc003mho.2 - 13 1369 c.1348G>T c.(1348-1350)GAG>TAG p.E450* DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhk.2_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Nonsense_Mutation_p.E230*|DDX41_uc003mhn.2_Nonsense_Mutation_p.E319*|DDX41_uc003mhp.2_Nonsense_Mutation_p.E319*|DDX41_uc003mhq.1_Nonsense_Mutation_p.E230* NM_016222 NP_057306 Q9UJV9 DDX41_HUMAN DEAD-box protein abstrakt 450 Helicase C-terminal. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGCAGGTACTCGTGGATGGCG 0.602 85 233 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178413425 178413425 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr5:178413425G>T uc003mjr.2 - 8 2009 c.1830C>A c.(1828-1830)TAC>TAA p.Y610* GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Nonsense_Mutation_p.Y193*|GRM6_uc003mjs.1_Nonsense_Mutation_p.Y230* NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 610 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GCGTGTTGTTGTACCGCACGA 0.672 9 35 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6167791 6167791 + Missense_Mutation SNP G C C rs148207995 byFrequency TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:6167791G>C uc003mwv.2 - 13 1931 c.1808C>G c.(1807-1809)GCG>GGG p.A603G F13A1_uc011dib.1_Missense_Mutation_p.A540G NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 603 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GTGCAGGGACGCTTGTTCCAG 0.522 22 96 --- --- --- --- PASS GTF2H4 2968 broad.mit.edu 37 6 30876830 30876830 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:30876830C>A uc003nsa.1 + 2 224 c.17C>A c.(16-18)TCA>TAA p.S6* GTF2H4_uc010jsf.2_Nonsense_Mutation_p.S6*|GTF2H4_uc011dmv.1_Intron|GTF2H4_uc003nsb.1_5'UTR|GTF2H4_uc011dmw.1_Nonsense_Mutation_p.S12* NM_001517 NP_001508 Q92759 TF2H4_HUMAN general transcription factor IIH, polypeptide 4, 6 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 AGCACCCCTTCAAGGGGACTG 0.542 NER 19 123 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36927041 36927041 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:36927041G>C uc003ona.2 + 2 620 c.292G>C c.(292-294)GAC>CAC p.D98H PI16_uc003omz.1_Missense_Mutation_p.D98H|PI16_uc003onb.2_Missense_Mutation_p.D98H|PI16_uc011dts.1_5'Flank NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 98 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 CGAGGGCATGGACGTGCCGCT 0.677 6 23 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38863930 38863930 + Missense_Mutation SNP C T T rs143707632 byFrequency TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:38863930C>T uc003ooe.1 + 58 8818 c.8218C>T c.(8218-8220)CGT>TGT p.R2740C NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 p.R2740H(1) skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGATTTTCTTCGTGAGATGCC 0.388 44 218 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40399554 40399554 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:40399554G>A uc003oph.1 - 2 1764 c.1299C>T c.(1297-1299)ACC>ACT p.T433T NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 433 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GGGCCGAGGTGGTGGTCACTT 0.607 27 140 --- --- --- --- PASS TDRD6 221400 broad.mit.edu 37 6 46656835 46656835 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:46656835G>T uc003oyj.2 + 1 970 c.970G>T c.(970-972)GGA>TGA p.G324* TDRD6_uc010jze.2_Nonsense_Mutation_p.G318* NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 324 Tudor 2. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TGGCCTGGATGGACATTGGTA 0.582 31 72 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49578736 49578736 + Splice_Site SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:49578736C>T uc003ozk.3 - 7 1129 c.1067_splice c.e7+1 p.T356_splice RHAG_uc010jzl.2_Splice_Site_p.T356_splice|RHAG_uc010jzm.2_Intron NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) CTTTTACTCACGTGTTGGAGG 0.502 42 148 --- --- --- --- PASS GFRAL 389400 broad.mit.edu 37 6 55216362 55216362 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:55216362C>A uc003pcm.1 + 5 768 c.682C>A c.(682-684)CAA>AAA p.Q228K NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 228 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCGCAGCTGCCAAAATGATGA 0.418 17 100 --- --- --- --- PASS SNAP91 9892 broad.mit.edu 37 6 84333061 84333061 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:84333061G>T uc011dze.1 - 9 1083 c.766C>A c.(766-768)CAA>AAA p.Q256K SNAP91_uc003pkb.2_Missense_Mutation_p.Q221K|SNAP91_uc003pkc.2_Missense_Mutation_p.Q256K|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.Q256K|SNAP91_uc011dzf.1_Missense_Mutation_p.Q137K NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 256 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) ATACCAACTTGCTGTGGATTT 0.308 6 21 --- --- --- --- PASS ARMC2 84071 broad.mit.edu 37 6 109274546 109274546 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:109274546C>A uc003pss.3 + 13 2081 c.1907C>A c.(1906-1908)ACC>AAC p.T636N ARMC2_uc011eao.1_Missense_Mutation_p.T471N NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 636 ARM 9. binding 0 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) CTGCTCCTGACCACGCTGGGT 0.617 10 15 --- --- --- --- PASS CDC40 51362 broad.mit.edu 37 6 110538960 110538960 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:110538960C>T uc003pua.2 + 10 1068 c.1044C>T c.(1042-1044)CTC>CTT p.L348L NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 348 WD 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) CACAGTTCCTCAGTGCAGCCT 0.403 27 107 --- --- --- --- PASS SLC16A10 117247 broad.mit.edu 37 6 111498481 111498481 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:111498481G>A uc003pus.2 + 3 730 c.555G>A c.(553-555)CAG>CAA p.Q185Q SLC16A10_uc003pur.3_Silent_p.Q185Q|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 185 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TTGCATACCAGCCTTCATTGG 0.463 25 125 --- --- --- --- PASS SLC16A10 117247 broad.mit.edu 37 6 111498482 111498482 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:111498482C>A uc003pus.2 + 3 731 c.556C>A c.(556-558)CCT>ACT p.P186T SLC16A10_uc003pur.3_Missense_Mutation_p.P186T|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 186 Helical; (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TGCATACCAGCCTTCATTGGT 0.463 25 129 --- --- --- --- PASS TXLNB 167838 broad.mit.edu 37 6 139563943 139563943 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:139563943C>T uc011eds.1 - 10 1940 c.1775G>A c.(1774-1776)GGT>GAT p.G592D NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 592 cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) AACAGGGAGACCCTCGCATTG 0.612 61 113 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144780310 144780310 + Silent SNP C A A rs145026541 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:144780310C>A uc003qkt.2 + 20 2619 c.2527C>A c.(2527-2529)CGG>AGG p.R843R UTRN_uc010khq.1_Silent_p.R843R NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 843 Interaction with SYNM.|Spectrin 6. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCTTCCTTAGCGGGAATTGAC 0.458 17 68 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152529337 152529337 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:152529337C>G uc010kiw.2 - 125 23196 c.22594G>C c.(22594-22596)GAA>CAA p.E7532Q SYNE1_uc010kiv.2_Missense_Mutation_p.E2056Q|SYNE1_uc003qos.3_Missense_Mutation_p.E2056Q|SYNE1_uc003qot.3_Missense_Mutation_p.E7461Q|SYNE1_uc003qou.3_Missense_Mutation_p.E7532Q|SYNE1_uc003qor.3_Missense_Mutation_p.E432Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7532 Cytoplasmic (Potential).|Spectrin 25. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGGTTGAATTCATCCCTAGTG 0.463 HNSCC(10;0.0054) 11 111 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155579203 155579203 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr6:155579203C>T uc003qqj.3 - 7 872 c.808G>A c.(808-810)GAA>AAA p.E270K TFB1M_uc003qqk.2_Intron|uc003qqi.1_5'Flank NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) CGCTGCGCTTCAGGGAATAAC 0.448 43 207 --- --- --- --- PASS ITGB8 3696 broad.mit.edu 37 7 20441445 20441445 + Missense_Mutation SNP T G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:20441445T>G uc003suu.2 + 10 2088 c.1383T>G c.(1381-1383)ATT>ATG p.I461M ITGB8_uc011jyh.1_Missense_Mutation_p.I326M NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 461 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 CCGCTAAAATTCATATACACA 0.353 17 203 --- --- --- --- PASS PDE1C 5137 broad.mit.edu 37 7 31864549 31864549 + Silent SNP G T T rs59159704 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:31864549G>T uc003tcm.1 - 13 1807 c.1338C>A c.(1336-1338)ACC>ACA p.T446T PDE1C_uc003tcn.1_Silent_p.T446T|PDE1C_uc003tco.1_Silent_p.T506T|PDE1C_uc003tcr.2_Silent_p.T446T|PDE1C_uc003tcs.2_Silent_p.T446T NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 446 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CAATCTTCTCGGTCATGTCCG 0.498 85 180 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103180703 103180703 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:103180703G>A uc003vca.2 - 44 7031 c.6871C>T c.(6871-6873)CTT>TTT p.L2291F RELN_uc010liz.2_Missense_Mutation_p.L2291F NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2291 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CACCAGCGAAGGCGAGTAGAA 0.498 57 156 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103243798 103243798 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:103243798G>C uc003vca.2 - 24 3446 c.3286C>G c.(3286-3288)CAA>GAA p.Q1096E RELN_uc010liz.2_Missense_Mutation_p.Q1096E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1096 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCACACCCTTGTTCTGGTTTT 0.448 34 229 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103301968 103301968 + Missense_Mutation SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:103301968A>C uc003vca.2 - 12 1456 c.1296T>G c.(1294-1296)GAT>GAG p.D432E RELN_uc010liz.2_Missense_Mutation_p.D432E NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 432 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTCCCAAGACATCCCATCTAA 0.363 27 97 --- --- --- --- PASS ANKRD7 56311 broad.mit.edu 37 7 117874896 117874896 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:117874896G>T uc003vji.2 + 3 609 c.436G>T c.(436-438)GAA>TAA p.E146* NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 146 ANK 3. male gonad development 0 AAAACTGCTTGAATACGAAGC 0.328 37 128 --- --- --- --- PASS TPK1 27010 broad.mit.edu 37 7 144380018 144380018 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:144380018C>G uc003weq.2 - 4 272 c.169G>C c.(169-171)GAA>CAA p.E57Q TPK1_uc003weo.2_Silent_p.P11P|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.E57Q|TPK1_uc003wes.2_RNA NM_022445 NP_071890 Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 isoform a 57 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity ovary(2) 2 Thiamine(DB00152) CTCTCTCCTTCGGTGATATCA 0.393 66 443 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149476125 149476125 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr7:149476125A>G uc010lpk.2 + 8 1003 c.1003A>G c.(1003-1005)ATG>GTG p.M335V SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 335 VWFD 1. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGATGACTTCATGGAGCCAGG 0.627 26 51 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52323844 52323844 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:52323844C>T uc003xqu.3 - 16 2129 c.2028G>A c.(2026-2028)GTG>GTA p.V676V PXDNL_uc003xqt.3_5'Flank NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 676 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCCCCTGCTTCACACGTTCCC 0.512 16 15 --- --- --- --- PASS ABRA 137735 broad.mit.edu 37 8 107773334 107773334 + Silent SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:107773334C>G uc003ymm.3 - 2 1131 c.1077G>C c.(1075-1077)CTG>CTC p.L359L NM_139166 NP_631905 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 359 Interaction with actin (By similarity). positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CAAAGTCTACCAGTCCATGTT 0.438 10 379 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164667 139164667 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:139164667G>C uc003yuy.2 - 13 2222 c.2051C>G c.(2050-2052)TCT>TGT p.S684C FAM135B_uc003yux.2_Missense_Mutation_p.S585C|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S246C|FAM135B_uc003yvb.2_Missense_Mutation_p.S246C NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 684 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCCTGAATCAGATATGATGGA 0.527 HNSCC(54;0.14) 25 158 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140630669 140630669 + Silent SNP G A A rs140285421 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:140630669G>A uc003yvf.1 - 2 1021 c.957C>T c.(955-957)AGC>AGT p.S319S KCNK9_uc003yvg.1_Silent_p.S319S|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 319 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CAAGCTTGGCGCTGAAGGAGT 0.577 42 89 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143957739 143957739 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:143957739G>A uc003yxi.2 - 5 879 c.872C>T c.(871-873)GCG>GTG p.A291V CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'UTR|CYP11B1_uc003yxj.2_Missense_Mutation_p.A291V|CYP11B1_uc010mey.2_Missense_Mutation_p.A362V NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 291 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CAGGAGCTCCGCCACGATGCT 0.592 Familial_Hyperaldosteronism_type_I 36 38 --- --- --- --- PASS PPP1R16A 84988 broad.mit.edu 37 8 145727009 145727009 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr8:145727009G>A uc003zdd.2 + 11 2223 c.1310G>A c.(1309-1311)AGC>AAC p.S437N uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.S437N|GPT_uc011lli.1_5'Flank|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.3_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 437 plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TACCAGCTGAGCCCCCTGGAC 0.652 9 19 --- --- --- --- PASS DDX58 23586 broad.mit.edu 37 9 32526089 32526089 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:32526089G>T uc003zra.2 - 1 234 c.76C>A c.(76-78)CTG>ATG p.L26M DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.L26M|DDX58_uc011lnr.1_Translation_Start_Site NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 CARD 1. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) ATGTAGCTCAGGATGTAGGTA 0.572 18 100 --- --- --- --- PASS FLJ46321 389763 broad.mit.edu 37 9 84606183 84606183 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:84606183G>T uc004amn.2 + 4 845 c.798G>T c.(796-798)TTG>TTT p.L266F NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 266 integral to membrane 0 AAGCCAGTTTGTCTCTGAACA 0.512 65 537 --- --- --- --- PASS FBP2 8789 broad.mit.edu 37 9 97333768 97333768 + Silent SNP G C C rs144416702 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:97333768G>C uc004auv.2 - 4 610 c.543C>G c.(541-543)GGC>GGG p.G181G uc004auu.2_Intron NM_003837 NP_003828 O00757 F16P2_HUMAN fructose-1,6-bisphosphatase 2 181 fructose metabolic process|gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) AGAGGTCCACGCCTTGCCCTG 0.562 24 126 --- --- --- --- PASS FAM22G 441457 broad.mit.edu 37 9 99699495 99699495 + Nonsense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:99699495G>T uc004awq.1 + 5 1847 c.1132G>T c.(1132-1134)GAA>TAA p.E378* HIATL2_uc004awr.1_Intron NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 378 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) GATCCCCCCTGAAGTGGTGCA 0.652 31 127 --- --- --- --- PASS FAM22G 441457 broad.mit.edu 37 9 99699561 99699561 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:99699561G>A uc004awq.1 + 5 1913 c.1198G>A c.(1198-1200)GAG>AAG p.E400K HIATL2_uc004awr.1_Intron NM_001045477 NP_001038942 Q5VZR2 FA22G_HUMAN hypothetical protein LOC441457 400 skin(1) 1 Acute lymphoblastic leukemia(62;0.0527) GGACACAGGGGAGCCTGAGGG 0.607 25 90 --- --- --- --- PASS KIAA1529 57653 broad.mit.edu 37 9 100124529 100124529 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:100124529G>C uc011lut.1 + 40 5030 c.4257G>C c.(4255-4257)CAG>CAC p.Q1419H KIAA1529_uc004axe.1_Missense_Mutation_p.Q1251H|KIAA1529_uc004axg.1_Missense_Mutation_p.Q1280H|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.Q436H NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) ATCCGTCCCAGACAGGTAGAG 0.597 41 235 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104390665 104390665 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:104390665C>A uc004bbp.1 - 4 2972 c.2371G>T c.(2371-2373)GGA>TGA p.G791* GRIN3A_uc004bbq.1_Nonsense_Mutation_p.G791* NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 791 Extracellular (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) AAGCGGAATCCTTGGGAAGGA 0.343 8 112 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109746651 109746651 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:109746651C>A uc004bcz.2 + 10 7306 c.7017C>A c.(7015-7017)CAC>CAA p.H2339Q ZNF462_uc010mto.2_Missense_Mutation_p.H2248Q|ZNF462_uc004bda.2_Missense_Mutation_p.H2247Q|ZNF462_uc011lvz.1_Missense_Mutation_p.H296Q|uc004bdc.1_Intron NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 2339 C2H2-type 26. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 AGACCAAGCACACGGAGGAAC 0.537 19 178 --- --- --- --- PASS STRBP 55342 broad.mit.edu 37 9 125921449 125921449 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:125921449C>T uc004bns.2 - 9 1191 c.761G>A c.(760-762)TGT>TAT p.C254Y STRBP_uc004bnt.2_Missense_Mutation_p.C72Y|STRBP_uc004bnu.2_Missense_Mutation_p.C240Y|STRBP_uc004bnv.2_Missense_Mutation_p.C254Y NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 254 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 AGGTCTATTACAAGTACCTAT 0.398 33 129 --- --- --- --- PASS NAIF1 203245 broad.mit.edu 37 9 130829300 130829300 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:130829300C>G uc004bta.2 - 1 300 c.81G>C c.(79-81)AAG>AAC p.K27N NAIF1_uc004bsz.2_RNA|SLC25A25_uc004btb.2_5'Flank NM_197956 NP_931045 Q69YI7 NAIF1_HUMAN nuclear apoptosis inducing factor 1 27 Required for nuclear localization and apoptosis-inducing activity. apoptosis|induction of apoptosis nucleus 0 GCAGGTGCTTCTTCAGCTCCA 0.622 72 308 --- --- --- --- PASS SPTAN1 6709 broad.mit.edu 37 9 131381253 131381253 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:131381253G>C uc004bvl.3 + 43 5802 c.5689G>C c.(5689-5691)GAT>CAT p.D1897H SPTAN1_uc004bvm.3_Missense_Mutation_p.D1902H|SPTAN1_uc004bvn.3_Missense_Mutation_p.D1877H NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1897 Spectrin 20. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGCCAGCGAAGATTATGGCGA 0.507 4 93 --- --- --- --- PASS NUP188 23511 broad.mit.edu 37 9 131733096 131733096 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:131733096G>T uc004bws.1 + 11 994 c.972G>T c.(970-972)TTG>TTT p.L324F NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 324 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 CAGTGCTTTTGGCCTGGGCTC 0.488 33 159 --- --- --- --- PASS TOR1B 27348 broad.mit.edu 37 9 132571783 132571783 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr9:132571783T>C uc004byk.1 + 5 992 c.932T>C c.(931-933)ATG>ACG p.M311T NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 311 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) GCAGAGGAAATGACGTTTTTC 0.512 32 155 --- --- --- --- PASS IDI1 3422 broad.mit.edu 37 10 1089329 1089329 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:1089329T>A uc001iga.2 - 3 436 c.318A>T c.(316-318)TTA>TTT p.L106F C10orf110_uc010qaf.1_Intron|C10orf110_uc001ifx.3_Intron|C10orf110_uc001ifw.3_Intron|C10orf110_uc001ify.3_Intron|IDI1_uc001ifz.2_Missense_Mutation_p.L50F|IDI1_uc001igb.2_RNA|IDI1_uc001igc.2_Missense_Mutation_p.L50F NM_004508 NP_004499 Q13907 IDI1_HUMAN isopentenyl-diphosphate delta isomerase 49 Nudix hydrolase. carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding 0 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.221) Epithelial(11;0.0972) CTCGATGCAATAATCCTGAAA 0.353 11 114 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8115958 8115958 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:8115958C>G uc001ika.2 + 6 1861 c.1304C>G c.(1303-1305)CCC>CGC p.P435R GATA3_uc001ijz.2_Missense_Mutation_p.P436R NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 435 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CCACACCACCCCTCCAGCATG 0.627 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 10 76 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15729992 15729992 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:15729992A>T uc001ioc.1 - 3 389 c.389T>A c.(388-390)TTC>TAC p.F130Y ITGA8_uc010qcb.1_Missense_Mutation_p.F130Y NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 130 Extracellular (Potential).|FG-GAP 2. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATTGGATTTGAACTCGATAGG 0.408 58 265 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16990574 16990574 + Silent SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:16990574A>T uc001ioo.2 - 35 5164 c.5112T>A c.(5110-5112)CCT>CCA p.P1704P NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1704 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGGATGTGATAGGATGGGGCA 0.507 11 57 --- --- --- --- PASS ARHGAP21 57584 broad.mit.edu 37 10 24874554 24874554 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:24874554T>C uc001isb.2 - 26 5151 c.4664A>G c.(4663-4665)CAG>CGG p.Q1555R ARHGAP21_uc010qdb.1_RNA NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1554 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding ovary(7)|pancreas(1) 8 CAGGGAGGCCTGGGAAGACGT 0.522 28 221 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26359049 26359049 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:26359049C>T uc001isn.2 + 13 1540 c.1180C>T c.(1180-1182)CTA>TTA p.L394L MYO3A_uc009xko.1_Silent_p.L394L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L394L NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 394 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.L394I(1) ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GCATTCCAAACTATATATTGG 0.303 13 104 --- --- --- --- PASS GDF2 2658 broad.mit.edu 37 10 48414241 48414241 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:48414241G>T uc001jfa.1 - 2 790 c.627C>A c.(625-627)AGC>AGA p.S209R NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 209 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 GCTTCACGGCGCTGGACACTT 0.572 29 155 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55626539 55626539 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:55626539C>A uc001jju.1 - 27 3975 c.3580G>T c.(3580-3582)GGA>TGA p.G1194* PCDH15_uc010qhq.1_Nonsense_Mutation_p.G1199*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G1206*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G1201*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G1194*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G1157*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G1123*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.G1199*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G1194*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G1172*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G1172* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1194 Cadherin 11.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACTACAAATCCTTCTTTTCCC 0.378 HNSCC(58;0.16) 26 208 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75294514 75294514 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:75294514T>C uc001juo.2 - 10 1176 c.1159A>G c.(1159-1161)ATC>GTC p.I387V USP54_uc001jum.2_RNA|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Missense_Mutation_p.I387V|USP54_uc010qkl.1_Missense_Mutation_p.I387V NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 387 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) TCACTTGAGATGGAGGGCTCC 0.473 12 81 --- --- --- --- PASS C10orf46 143384 broad.mit.edu 37 10 120488808 120488808 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:120488808T>A uc001lds.1 - 3 1080 c.596A>T c.(595-597)CAG>CTG p.Q199L C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 199 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) GTTCTTTACCTGCAGCTCCTT 0.363 17 172 --- --- --- --- PASS FANK1 92565 broad.mit.edu 37 10 127677168 127677168 + Silent SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr10:127677168G>C uc001ljh.3 + 3 344 c.240G>C c.(238-240)CTG>CTC p.L80L FANK1_uc010quk.1_Silent_p.L74L|FANK1_uc009yan.2_Silent_p.L80L|FANK1_uc001lji.2_Silent_p.L74L NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 80 Fibronectin type-III. cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) CAAGGACGCTGTACAGATTTC 0.512 57 277 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5344690 5344690 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:5344690G>T uc001mao.1 - 1 893 c.838C>A c.(838-840)CTC>ATC p.L280I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAGGAAAGAGGAAGTAGATG 0.363 63 123 --- --- --- --- PASS OR56B1 387748 broad.mit.edu 37 11 5758097 5758097 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:5758097G>T uc001mbt.1 + 1 351 c.351G>T c.(349-351)GTG>GTT p.V117V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.V117V|OR56B1_uc009yev.1_Silent_p.V117V NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) ACTTCTTTGTGGGCATGGAGT 0.443 29 75 --- --- --- --- PASS HPX 3263 broad.mit.edu 37 11 6453216 6453216 + Silent SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:6453216C>A uc001mdg.2 - 8 928 c.867G>T c.(865-867)CGG>CGT p.R289R HPX_uc001mdf.2_Silent_p.R35R|HPX_uc009yfc.2_RNA NM_000613 NP_000604 P02790 HEMO_HUMAN hemopexin precursor 289 Hemopexin-like 4. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GCCAGCCATCCCGGCTGGTGT 0.577 25 228 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32663553 32663553 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:32663553C>G uc001mtv.2 - 13 1059 c.1015G>C c.(1015-1017)GAG>CAG p.E339Q CCDC73_uc001mtw.1_Missense_Mutation_p.E329Q NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 339 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTTTCATGCTCATTTTGAAGA 0.244 25 54 --- --- --- --- PASS DGKZ 8525 broad.mit.edu 37 11 46388861 46388861 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:46388861G>C uc001ncn.1 + 3 874 c.749G>C c.(748-750)GGC>GCC p.G250A DGKZ_uc001nch.1_Missense_Mutation_p.G78A|DGKZ_uc010rgq.1_Missense_Mutation_p.G27A|DGKZ_uc001ncj.1_Missense_Mutation_p.G27A|DGKZ_uc010rgr.1_Missense_Mutation_p.G27A|DGKZ_uc001nck.1_5'UTR|DGKZ_uc001ncl.2_Missense_Mutation_p.G61A|DGKZ_uc001ncm.2_Missense_Mutation_p.G61A|DGKZ_uc009yky.1_Missense_Mutation_p.G61A|DGKZ_uc010rgs.1_Missense_Mutation_p.G61A|DGKZ_uc001nci.1_Missense_Mutation_p.G27A NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 250 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) ACCAAGTCGGGCCTCCAGCAC 0.662 8 63 --- --- --- --- PASS FNBP4 23360 broad.mit.edu 37 11 47744580 47744580 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:47744580G>A uc009ylv.2 - 15 2906 c.2753C>T c.(2752-2754)CCA>CTA p.P918L FNBP4_uc001ngi.2_Missense_Mutation_p.P232L|FNBP4_uc001ngj.2_Missense_Mutation_p.P825L NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 918 Pro-rich. ovary(1) 1 TTTGGGAGCtggtggtggtgg 0.299 4 8 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579674 55579674 + Missense_Mutation SNP C A A rs145975508 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:55579674C>A uc001nhw.1 + 1 732 c.732C>A c.(730-732)CAC>CAA p.H244Q NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GTGCTTCCCACCTCACAGCTA 0.517 18 181 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579675 55579675 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:55579675C>A uc001nhw.1 + 1 733 c.733C>A c.(733-735)CTC>ATC p.L245I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TGCTTCCCACCTCACAGCTAT 0.517 18 181 --- --- --- --- PASS GIF 2694 broad.mit.edu 37 11 59610591 59610591 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:59610591G>T uc001noi.2 - 3 328 c.280C>A c.(280-282)CTC>ATC p.L94I GIF_uc010rkz.1_Missense_Mutation_p.L94I NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 94 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 ATGATGGTGAGGCCGAGCTGC 0.532 9 101 --- --- --- --- PASS GIF 2694 broad.mit.edu 37 11 59610592 59610592 + Silent SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:59610592G>C uc001noi.2 - 3 327 c.279C>G c.(277-279)GGC>GGG p.G93G GIF_uc010rkz.1_Silent_p.G93G NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 93 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 TGATGGTGAGGCCGAGCTGCC 0.527 9 101 --- --- --- --- PASS STIP1 10963 broad.mit.edu 37 11 63967716 63967716 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:63967716A>G uc001nyk.1 + 10 1343 c.1196A>G c.(1195-1197)AAT>AGT p.N399S STIP1_uc010rnb.1_Missense_Mutation_p.N375S NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 399 TPR 8. axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 TTATACAGCAATCGAGCTGCC 0.512 142 328 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66191621 66191621 + Silent SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:66191621T>C uc001ohx.1 + 7 1436 c.1260T>C c.(1258-1260)CTT>CTC p.L420L NPAS4_uc010rpc.1_Silent_p.L210L NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 420 transcription, DNA-dependent DNA binding|signal transducer activity 0 GCAAGGATCTTGTGTGCACTC 0.562 50 313 --- --- --- --- PASS SHANK2 22941 broad.mit.edu 37 11 70332960 70332960 + Silent SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:70332960C>A uc001oqc.2 - 21 3516 c.3438G>T c.(3436-3438)CCG>CCT p.P1146P SHANK2_uc010rqn.1_Silent_p.P558P|SHANK2_uc001opz.2_Silent_p.P551P|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 767 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCGTGGCACTCGGCATGGGGG 0.687 18 108 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78380299 78380299 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:78380299C>A uc001ozl.3 - 32 7554 c.7091G>T c.(7090-7092)GGG>GTG p.G2364V ODZ4_uc001ozk.3_Missense_Mutation_p.G589V|ODZ4_uc009yvb.1_Missense_Mutation_p.G948V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2364 Extracellular (Potential).|YD 23. signal transduction integral to membrane ovary(2)|pancreas(2) 4 AAGAGGGGTCCCGATGTTGTC 0.483 64 140 --- --- --- --- PASS KBTBD3 143879 broad.mit.edu 37 11 105929622 105929622 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:105929622C>A uc001pja.2 - 3 843 c.203G>T c.(202-204)TGT>TTT p.C68F KBTBD3_uc001pjb.2_Missense_Mutation_p.C68F|KBTBD3_uc009yxm.2_Intron NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 64 BTB. ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TGCTAACACACAACGATGACA 0.308 5 130 --- --- --- --- PASS C11orf52 91894 broad.mit.edu 37 11 111789712 111789712 + Missense_Mutation SNP T A A rs140110474 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:111789712T>A uc001pmh.2 + 2 499 c.16T>A c.(16-18)TGC>AGC p.C6S HSPB2_uc009yyj.2_RNA|C11orf52_uc001pmi.2_Missense_Mutation_p.C6S NM_080659 NP_542390 Q96A22 CK052_HUMAN hypothetical protein LOC91894 6 ovary(1) 1 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) AAACCGGGTCTGCTGCGGAGG 0.557 14 80 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121037356 121037356 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:121037356G>T uc010rzo.1 + 17 5453 c.5453G>T c.(5452-5454)TGC>TTC p.C1818F NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1818 ZP. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ATATCTAAGTGCAAGCTCTTC 0.483 14 210 --- --- --- --- PASS OR8D1 283159 broad.mit.edu 37 11 124179936 124179936 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:124179936A>T uc010sag.1 - 1 727 c.727T>A c.(727-729)TCT>ACT p.S243T NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) ATGAGATGAGAGCTGCATGTT 0.522 8 101 --- --- --- --- PASS ESAM 90952 broad.mit.edu 37 11 124624230 124624230 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:124624230C>A uc001qav.3 - 6 910 c.737G>T c.(736-738)GGA>GTA p.G246V VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Missense_Mutation_p.G67V|ESAM_uc001qau.3_Missense_Mutation_p.G173V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.G246V NM_138961 NP_620411 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule precursor 246 Extracellular (Potential). blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) CACTGCAGCTCCAGGCCCTGG 0.637 15 51 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124748308 124748308 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr11:124748308G>T uc001qbc.2 + 22 3488 c.3296G>T c.(3295-3297)GGG>GTG p.G1099V ROBO3_uc001qbd.2_Missense_Mutation_p.G24V|ROBO3_uc010sar.1_Missense_Mutation_p.G148V|ROBO3_uc001qbe.2_Missense_Mutation_p.G24V|ROBO3_uc001qbf.1_Intron NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1099 Cytoplasmic (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) TGCCTAGAAGGGCCGGAGGAG 0.632 12 82 --- --- --- --- PASS PARP11 57097 broad.mit.edu 37 12 3931253 3931253 + Nonsense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:3931253G>A uc001qmk.1 - 4 449 c.394C>T c.(394-396)CAG>TAG p.Q132* PARP11_uc001qml.2_Nonsense_Mutation_p.Q139*|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Nonsense_Mutation_p.Q58*|PARP11_uc001qmn.2_Nonsense_Mutation_p.Q58* NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 132 PARP catalytic. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GCTCTTACCTGATATGGTACT 0.378 34 176 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7480901 7480901 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:7480901C>T uc001qsx.1 + 13 1675 c.1675C>T c.(1675-1677)CTC>TTC p.L559F NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 559 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 TGTTCAAGAACTCCCAAAGAC 0.403 5 15 --- --- --- --- PASS KRT72 140807 broad.mit.edu 37 12 52979845 52979845 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:52979845C>G uc001sar.2 - 9 1543 c.1457G>C c.(1456-1458)GGC>GCC p.G486A KRT72_uc001saq.2_Missense_Mutation_p.G486A|KRT72_uc010sns.1_Missense_Mutation_p.G444A|KRT72_uc010snt.1_Missense_Mutation_p.G298A NM_001146225 NP_001139697 Q14CN4 K2C72_HUMAN keratin 72 isoform 1 486 Tail. keratin filament structural molecule activity ovary(5)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(357;0.195) GCCACAGCTGCCTTTGGTCTT 0.567 61 284 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70964993 70964993 + Silent SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:70964993A>G uc001swb.3 - 11 2559 c.2529T>C c.(2527-2529)AAT>AAC p.N843N PTPRB_uc010sto.1_Silent_p.N843N|PTPRB_uc010stp.1_Silent_p.N753N|PTPRB_uc001swc.3_Silent_p.N1061N|PTPRB_uc001swa.3_Silent_p.N973N|PTPRB_uc001swd.3_Silent_p.N1060N|PTPRB_uc009zrr.1_Silent_p.N940N NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 843 Fibronectin type-III 10.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CGACATCCCCATTAGCTCCTG 0.438 29 63 --- --- --- --- PASS TMCC3 57458 broad.mit.edu 37 12 94975677 94975677 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:94975677T>A uc001tdj.2 - 2 834 c.716A>T c.(715-717)TAC>TTC p.Y239F TMCC3_uc001tdi.2_Missense_Mutation_p.Y208F NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 239 integral to membrane ovary(1)|skin(1) 2 GCTGCCCCCGTAGGCCCTGGC 0.537 47 167 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99638142 99638142 + Missense_Mutation SNP T G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:99638142T>G uc001tge.1 - 14 2814 c.2397A>C c.(2395-2397)AAA>AAC p.K799N ANKS1B_uc001tgf.1_Missense_Mutation_p.K379N|ANKS1B_uc001tgk.2_Missense_Mutation_p.K96N NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 799 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CATTCATCTCTTTAAGTTCGT 0.313 14 69 --- --- --- --- PASS NR1H4 9971 broad.mit.edu 37 12 100930750 100930750 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:100930750G>C uc001tht.1 + 6 914 c.886G>C c.(886-888)GAA>CAA p.E296Q NR1H4_uc001thp.1_Missense_Mutation_p.E282Q|NR1H4_uc001thq.1_Missense_Mutation_p.E286Q|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.E286Q|NR1H4_uc010svk.1_Missense_Mutation_p.E235Q|NR1H4_uc001ths.1_Missense_Mutation_p.E292Q NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 296 Ligand-binding. bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CAGTGCAGAAGAAAATTTTCT 0.244 26 302 --- --- --- --- PASS NUAK1 9891 broad.mit.edu 37 12 106480624 106480624 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:106480624T>C uc001tlj.1 - 3 1781 c.401A>G c.(400-402)TAT>TGT p.Y134C NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 134 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 TTTGCTGGCATATTCCATGAT 0.498 30 173 --- --- --- --- PASS POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:106820975C>T uc001tlp.2 + 13 1324 c.1102C>T c.(1102-1104)CTT>TTT p.L368F POLR3B_uc001tlq.2_Missense_Mutation_p.L310F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTTTTTTAGCTTTTATCTCT 0.274 5 17 --- --- --- --- PASS CCDC60 160777 broad.mit.edu 37 12 119866545 119866545 + Nonsense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr12:119866545A>T uc001txe.2 + 2 613 c.148A>T c.(148-150)AAA>TAA p.K50* uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 50 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AATAAACCTCAAAAAGGACCT 0.453 6 28 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38357251 38357251 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:38357251G>T uc001uws.2 - 2 455 c.220C>A c.(220-222)CTC>ATC p.L74I TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L74I|TRPC4_uc010tey.1_Missense_Mutation_p.L74I|TRPC4_uc010abw.2_Missense_Mutation_p.L74I|TRPC4_uc010abx.2_Missense_Mutation_p.L74I|TRPC4_uc010aby.2_Missense_Mutation_p.L74I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 74 ANK 2.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) gcaatgaggagagcagttctt 0.209 46 159 --- --- --- --- PASS MTRF1 9617 broad.mit.edu 37 13 41834927 41834927 + Silent SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:41834927C>A uc001uxx.2 - 4 587 c.117G>T c.(115-117)CTG>CTT p.L39L MTRF1_uc001uxy.2_Silent_p.L39L|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Silent_p.L52L|MTRF1_uc001uyc.1_Silent_p.L39L NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 39 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) TAAAAACTTGCAGCCTTGTAT 0.393 39 199 --- --- --- --- PASS UTP14C 9724 broad.mit.edu 37 13 52604681 52604681 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:52604681G>C uc001vgb.2 + 2 2276 c.1741G>C c.(1741-1743)GAG>CAG p.E581Q UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 581 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) AATAATAGAGGAGCTGGAAGA 0.458 27 109 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58208193 58208193 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:58208193G>A uc001vhq.1 + 1 2405 c.1513G>A c.(1513-1515)GGC>AGC p.G505S PCDH17_uc010aec.1_Missense_Mutation_p.G505S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 505 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) GGGCCAGAACGGCACCGTATC 0.597 13 78 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75915719 75915719 + Silent SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:75915719G>C uc001vjl.1 - 6 1760 c.1413C>G c.(1411-1413)CTC>CTG p.L471L TBC1D4_uc010aer.2_Silent_p.L471L|TBC1D4_uc010aes.2_Silent_p.L471L NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 471 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTGGTGGGTAGAGACCTAAGG 0.453 14 102 --- --- --- --- PASS SOX1 6656 broad.mit.edu 37 13 112722245 112722245 + Silent SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:112722245C>A uc001vsb.1 + 1 333 c.273C>A c.(271-273)GTC>GTA p.V91V NM_005986 NP_005977 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 91 HMG box. chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) AGTGGAAGGTCATGTCCGAGG 0.662 7 34 --- --- --- --- PASS ATP4B 496 broad.mit.edu 37 13 114307223 114307223 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr13:114307223C>A uc001vtz.2 - 4 562 c.520G>T c.(520-522)GAA>TAA p.E174* ATP4B_uc010agy.1_Nonsense_Mutation_p.E174* NM_000705 NP_000696 P51164 ATP4B_HUMAN hydrogen/potassium-exchanging ATPase 4B 174 Extracellular (Potential). ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) GGCTTTCCTTCTTCAAAGCCG 0.522 13 71 --- --- --- --- PASS METTL3 56339 broad.mit.edu 37 14 21968795 21968795 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr14:21968795G>A uc001wbc.2 - 6 1238 c.1146C>T c.(1144-1146)GAC>GAT p.D382D METTL3_uc001wbb.2_Silent_p.D227D NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 382 D -> V (in Ref. 1; AAB71850). gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) AGATACTGACGTCCAGGTAGC 0.493 27 160 --- --- --- --- PASS MIR624 693209 broad.mit.edu 37 14 31483884 31483884 + RNA SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr14:31483884C>T hsa-mir-624|MI0003638 - c.65C>T STRN3_uc001wqu.2_Intron|STRN3_uc001wqv.2_Intron|STRN3_uc010tpj.1_Intron 0 AAGGTAATACCAATACCTTGT 0.323 2 1 --- --- --- --- PASS C14orf43 91748 broad.mit.edu 37 14 74189513 74189513 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr14:74189513T>A uc001xot.2 - 10 3395 c.2612A>T c.(2611-2613)TAC>TTC p.Y871F C14orf43_uc001xos.2_Missense_Mutation_p.Y136F|C14orf43_uc001xou.2_Missense_Mutation_p.Y871F|C14orf43_uc010tud.1_Missense_Mutation_p.Y871F|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 871 SANT. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GTAGGTGTAGTAGAACTCCAC 0.522 160 330 --- --- --- --- PASS C14orf145 145508 broad.mit.edu 37 14 81251423 81251423 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr14:81251423T>C uc001xux.2 - 14 2198 c.2027A>G c.(2026-2028)GAT>GGT p.D676G C14orf145_uc010asz.1_RNA NM_152446 NP_689659 Q6ZU80 CE128_HUMAN hypothetical protein LOC145508 676 Potential. centriole|spindle pole 0 BRCA - Breast invasive adenocarcinoma(234;0.0586) TGTTTCTTCATCCCTGGATTT 0.453 11 356 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28502333 28502333 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:28502333C>T uc001zbj.2 - 17 2497 c.2391G>A c.(2389-2391)ATG>ATA p.M797I HERC2_uc001zbl.1_Missense_Mutation_p.M492I NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 797 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GCTCAAAAGTCATTGAGCAGA 0.547 13 121 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346239 29346239 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:29346239T>C uc001zck.2 + 3 359 c.152T>C c.(151-153)CTG>CCG p.L51P APBA2_uc010azj.2_Missense_Mutation_p.L51P|APBA2_uc010uat.1_Missense_Mutation_p.L51P|APBA2_uc001zcl.2_Missense_Mutation_p.L51P|APBA2_uc010uas.1_Missense_Mutation_p.L51P NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 51 nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CTGGCTGCCCTGCGGCCAGAG 0.657 41 106 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35222550 35222550 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:35222550T>C uc001ziv.2 - 12 1104 c.923A>G c.(922-924)TAT>TGT p.Y308C NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 308 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) AAAACCAGTATAGAATTTAAG 0.303 123 337 --- --- --- --- PASS C15orf41 84529 broad.mit.edu 37 15 37100543 37100543 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:37100543C>T uc001zje.3 + 11 985 c.735C>T c.(733-735)GTC>GTT p.V245V C15orf41_uc001zjd.2_Silent_p.V245V|C15orf41_uc010bbb.1_Silent_p.V147V|C15orf41_uc001zjf.2_Silent_p.V147V|C15orf41_uc010uci.1_Silent_p.V147V|CSNK1A1P_uc001zjg.3_Intron NM_001130010 NP_001123482 Q9Y2V0 CO041_HUMAN hypothetical protein LOC84529 isoform 1 245 protein binding pancreas(1) 1 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) CAGGCTTAGTCATCTATTGGT 0.458 14 187 --- --- --- --- PASS TTBK2 146057 broad.mit.edu 37 15 43038444 43038444 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:43038444T>C uc001zqo.2 - 15 3723 c.3284A>G c.(3283-3285)TAT>TGT p.Y1095C TTBK2_uc010bcy.2_Missense_Mutation_p.Y1026C|uc001zqn.2_5'Flank NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1095 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TAGGACTTTATATCTGCGTAG 0.393 13 69 --- --- --- --- PASS C15orf63 25764 broad.mit.edu 37 15 44085281 44085281 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:44085281G>T uc001ztb.2 + 2 517 c.34G>T c.(34-36)GCT>TCT p.A12S ELL3_uc001zsx.1_Intron|SERF2_uc010bdq.2_Missense_Mutation_p.R39M|SERF2_uc010uee.1_Missense_Mutation_p.G12W|SERF2_uc001zsz.3_Missense_Mutation_p.R39M NM_016400 NP_057484 Q9NX55 HYPK_HUMAN chromosome 15 open reading frame 63 Error:Variant_position_missing_in_Q9NX55_after_alignment 0 CGCAAGCAGAGGTAGCCCCAG 0.577 6 37 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53080992 53080992 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:53080992C>A uc002aci.1 - 1 1218 c.1090G>T c.(1090-1092)GCG>TCG p.A364S NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 364 CUT. endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) AAGCGGAGCGCGGACATGCGC 0.637 24 72 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77046217 77046217 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:77046217G>A uc002bby.2 - 14 1857 c.1798C>T c.(1798-1800)CAT>TAT p.H600Y SCAPER_uc002bbx.2_Missense_Mutation_p.H354Y|SCAPER_uc002bbz.1_Missense_Mutation_p.H471Y|SCAPER_uc002bca.1_Missense_Mutation_p.H465Y|SCAPER_uc002bcb.1_Missense_Mutation_p.H606Y NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 599 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AACTCAGCATGAAGTAATTTT 0.378 69 385 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79755579 79755579 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:79755579G>A uc002bew.1 + 3 2544 c.2469G>A c.(2467-2469)GTG>GTA p.V823V KIAA1024_uc010unk.1_Silent_p.V823V NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 823 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TGGCCGAGGTGAAGCGGGGCC 0.612 64 159 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84611786 84611786 + Nonsense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr15:84611786T>A uc002bjz.3 + 19 2666 c.2442T>A c.(2440-2442)TGT>TGA p.C814* ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.C814*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.C814* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 814 TSP type-1 6. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) ACAAGTCCTGTGCCAGGACAG 0.512 13 185 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1545504 1545504 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:1545504G>T uc002cly.2 + 3 784 c.493G>T c.(493-495)GAT>TAT p.D165Y TELO2_uc010uvg.1_Missense_Mutation_p.D165Y NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 165 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) GGCCCTGCCCGATCACCTGGG 0.682 4 43 --- --- --- --- PASS C16orf73 254528 broad.mit.edu 37 16 1884318 1884318 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:1884318G>A uc002cne.2 - 13 1386 c.1268C>T c.(1267-1269)TCG>TTG p.S423L FAHD1_uc002cnd.2_Intron|FAHD1_uc010brz.2_Intron|C16orf73_uc010uvq.1_Missense_Mutation_p.S452L|C16orf73_uc010uvr.1_Missense_Mutation_p.S245L NM_152764 NP_689977 Q8N635 CP073_HUMAN hypothetical protein LOC254528 isoform 2 423 meiosis cytoplasm 0 AAGCTTGCACGAGAGTACACT 0.383 19 134 --- --- --- --- PASS USP7 7874 broad.mit.edu 37 16 8992280 8992280 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:8992280G>A uc002czl.2 - 25 2854 c.2655C>T c.(2653-2655)ATC>ATT p.I885I USP7_uc010uyk.1_Silent_p.I786I|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.I786I|USP7_uc002czk.2_Silent_p.I869I NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 885 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 CAAAGTCTGTGATTTTCATCT 0.313 47 232 --- --- --- --- PASS PDXDC1 23042 broad.mit.edu 37 16 15100389 15100389 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:15100389A>G uc002dda.3 + 6 752 c.528A>G c.(526-528)ATA>ATG p.I176M PDXDC1_uc010uzl.1_Missense_Mutation_p.I161M|PDXDC1_uc010uzm.1_Missense_Mutation_p.I85M|PDXDC1_uc010bvc.1_Missense_Mutation_p.I117M|PDXDC1_uc002dcz.2_Missense_Mutation_p.I176M|PDXDC1_uc002ddb.3_Missense_Mutation_p.I149M|PDXDC1_uc010uzn.1_Missense_Mutation_p.I148M|PDXDC1_uc002ddc.2_Missense_Mutation_p.I176M NM_015027 NP_055842 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain 176 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) AGCCTGTCATATATCTTAGTG 0.393 29 263 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20551990 20551990 + Nonsense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:20551990T>A uc002dhj.3 - 14 1825 c.1615A>T c.(1615-1617)AAG>TAG p.K539* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.K539* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 539 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 CTTGGGTACTTGTATGGGGCT 0.478 39 193 --- --- --- --- PASS POLR3E 55718 broad.mit.edu 37 16 22328500 22328500 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:22328500G>C uc002dkk.2 + 12 994 c.838G>C c.(838-840)GAT>CAT p.D280H POLR3E_uc002dkj.1_Missense_Mutation_p.D280H|POLR3E_uc002dkm.2_Missense_Mutation_p.D244H|POLR3E_uc010vbr.1_Missense_Mutation_p.D280H|POLR3E_uc002dkl.2_Missense_Mutation_p.D280H|POLR3E_uc010vbs.1_Missense_Mutation_p.D244H|POLR3E_uc010vbt.1_Missense_Mutation_p.D224H NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 280 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) GCCCCTGGCCGATCAGATCAA 0.642 28 162 --- --- --- --- PASS TUFM 7284 broad.mit.edu 37 16 28855622 28855622 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:28855622C>G uc002drh.2 - 7 990 c.851G>C c.(850-852)CGT>CCT p.R284P uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 281 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 TAAAATGCCACGCTCTAGTGT 0.562 35 252 --- --- --- --- PASS ARMC5 79798 broad.mit.edu 37 16 31471257 31471257 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:31471257G>T uc002ecc.2 + 1 941 c.412G>T c.(412-414)GAT>TAT p.D138Y ARMC5_uc010vfn.1_Missense_Mutation_p.D233Y|ARMC5_uc010vfo.1_Missense_Mutation_p.D170Y|ARMC5_uc002eca.3_Missense_Mutation_p.D138Y|ARMC5_uc010vfp.1_Missense_Mutation_p.D138Y|ARMC5_uc002ecb.2_Missense_Mutation_p.D138Y NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 138 binding pancreas(1) 1 CATCCTAGCCGATTGCTGTAC 0.547 20 137 --- --- --- --- PASS ACD 65057 broad.mit.edu 37 16 67694322 67694322 + Silent SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:67694322T>A uc002etq.3 - 1 397 c.60A>T c.(58-60)GCA>GCT p.A20A ACD_uc002etp.3_Silent_p.A20A|ACD_uc002etr.3_Silent_p.A20A|ACD_uc010vjt.1_Silent_p.A10A|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 20 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) ACCCCGCTGGTGCACGGGATG 0.687 6 29 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75276604 75276604 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:75276604G>T uc002fdv.2 - 2 520 c.397C>A c.(397-399)CCC>ACC p.P133T BCAR1_uc010cgu.2_Missense_Mutation_p.P104T|BCAR1_uc010vna.1_Missense_Mutation_p.P131T|BCAR1_uc010vnb.1_Missense_Mutation_p.P179T|BCAR1_uc002fdw.2_Missense_Mutation_p.P133T|BCAR1_uc010vnc.1_Intron|BCAR1_uc010vnd.1_Missense_Mutation_p.P151T|BCAR1_uc002fdx.2_Missense_Mutation_p.P151T NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 133 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) TGAGGGCTGGGACCCGGGACT 0.637 14 324 --- --- --- --- PASS MBTPS1 8720 broad.mit.edu 37 16 84094378 84094378 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:84094378C>T uc002fhi.2 - 20 3115 c.2613G>A c.(2611-2613)TCG>TCA p.S871S MBTPS1_uc002fhh.2_Silent_p.S375S NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 871 Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 TCACCCCATACGATGTGTACT 0.483 5 23 --- --- --- --- PASS ZCCHC14 23174 broad.mit.edu 37 16 87445175 87445175 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:87445175G>C uc002fjz.1 - 12 2768 c.2741C>G c.(2740-2742)ACT>AGT p.T914S ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.T690S NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 914 CCHC-type. cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GCGGTGACCAGTGGCCCCGCA 0.627 61 291 --- --- --- --- PASS CBFA2T3 863 broad.mit.edu 37 16 88951483 88951483 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr16:88951483C>T uc002fmm.1 - 7 1274 c.1088G>A c.(1087-1089)CGG>CAG p.R363Q CBFA2T3_uc002fml.1_Missense_Mutation_p.R277Q|CBFA2T3_uc010cif.1_Missense_Mutation_p.R302Q|CBFA2T3_uc002fmn.1_Missense_Mutation_p.R338Q NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 363 Mediates localization to the nucleus (By similarity).|Mediates interaction with PDE7A (in isoform 2). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) TCGTAGCTCCCGGGGGTCTGG 0.687 T RUNX1 AML 10 42 --- --- --- --- PASS CAMTA2 23125 broad.mit.edu 37 17 4883174 4883174 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:4883174C>A uc002gah.1 - 9 1551 c.1443G>T c.(1441-1443)AGG>AGT p.R481S CAMTA2_uc010cku.1_Missense_Mutation_p.R504S|CAMTA2_uc002gag.1_Missense_Mutation_p.R480S|CAMTA2_uc002gai.1_Missense_Mutation_p.R483S|CAMTA2_uc010ckv.1_Missense_Mutation_p.R128S|CAMTA2_uc010vsu.1_Missense_Mutation_p.R294S NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 481 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 CTCTTCCTACCCTGCTTGACG 0.453 86 168 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 111 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) 44 95 --- --- --- --- PASS MYH10 4628 broad.mit.edu 37 17 8526239 8526239 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:8526239T>C uc002gll.2 - 2 422 c.326A>G c.(325-327)TAC>TGC p.Y109C MYH10_uc002glm.2_Missense_Mutation_p.Y109C|MYH10_uc010cnx.2_Missense_Mutation_p.Y109C NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 109 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 TCCTGAATAGTAGCGATCCTT 0.348 49 100 --- --- --- --- PASS MYO1D 4642 broad.mit.edu 37 17 30821850 30821850 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:30821850G>A uc002hho.1 - 22 2960 c.2948C>T c.(2947-2949)ACG>ATG p.T983M NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 983 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GTTGAGCCGCGTCTCCACGGA 0.637 7 64 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34190546 34190546 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:34190546C>T uc002hke.1 - 7 734 c.585G>A c.(583-585)GAG>GAA p.E195E C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Silent_p.E155E|C17orf66_uc010wcm.1_Silent_p.E161E NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 195 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) ACTTCACTTTCTCTGGACCAG 0.383 33 195 --- --- --- --- PASS C17orf104 284071 broad.mit.edu 37 17 42744135 42744135 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:42744135G>C uc010czv.2 + 5 856 c.856G>C c.(856-858)GAT>CAT p.D286H C17orf104_uc002igy.1_Missense_Mutation_p.D120H|C17orf104_uc002igz.3_Missense_Mutation_p.D120H|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.D120H NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN hypothetical protein LOC284071 286 central_nervous_system(1) 1 ATCAGGAGTTGATATCTACCA 0.348 6 61 --- --- --- --- PASS FMNL1 752 broad.mit.edu 37 17 43319802 43319802 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:43319802C>T uc002iin.2 + 16 2180 c.1980C>T c.(1978-1980)TTC>TTT p.F660F FMNL1_uc002iiq.2_Silent_p.F238F|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 660 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GCACTGTCTTCACAGAGCTCA 0.587 52 115 --- --- --- --- PASS LUC7L3 51747 broad.mit.edu 37 17 48797172 48797172 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:48797172G>T uc002isr.2 + 1 196 c.79G>T c.(79-81)GTG>TTG p.V27L LUC7L3_uc002isp.1_5'UTR|LUC7L3_uc010wmw.1_5'UTR|LUC7L3_uc002isq.2_Missense_Mutation_p.V27L|LUC7L3_uc002iss.2_Missense_Mutation_p.V27L NM_006107 NP_006098 O95232 LC7L3_HUMAN LUC7-like 3 27 apoptosis|mRNA processing|response to stress|RNA splicing focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding 0 GCGCAGCAACGTGCGGTGGGA 0.697 4 26 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60754815 60754815 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:60754815G>T uc002jad.2 + 12 2422 c.2020G>T c.(2020-2022)GCC>TCC p.A674S MRC2_uc010ddq.1_RNA NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 674 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCAGGGCTGGGCCTCGGACAC 0.657 5 34 --- --- --- --- PASS UNK 85451 broad.mit.edu 37 17 73780870 73780870 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:73780870C>G uc002jpm.2 + 2 137 c.137C>G c.(136-138)TCG>TGG p.S46W UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) TTCACGTTCTCGTGGCGCGGC 0.612 7 60 --- --- --- --- PASS LGALS3BP 3959 broad.mit.edu 37 17 76967746 76967746 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr17:76967746G>A uc002jwh.2 - 6 1849 c.1670C>T c.(1669-1671)TCC>TTC p.S557F LGALS3BP_uc002jwi.2_Missense_Mutation_p.S363F|LGALS3BP_uc010dhr.2_Missense_Mutation_p.S363F NM_005567 NP_005558 Q08380 LG3BP_HUMAN galectin 3 binding protein 557 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity central_nervous_system(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GGGGAAGGAGGAGGTGCTCTT 0.632 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 141 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2934442 2934442 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:2934442T>C uc002klo.2 - 8 1414 c.1175A>G c.(1174-1176)CAC>CGC p.H392R NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 392 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GCTTCTTTTGTGAACACCTGT 0.373 16 135 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 18 14179555 14179555 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:14179555G>T uc010xag.1 + 1 460 c.162G>T c.(160-162)GCG>GCT p.A54A RecName: Full=Putative ankyrin repeat domain-containing protein 20A5; GCTGTCTGGCGCGCAGGAGCG 0.662 12 31 --- --- --- --- PASS ROCK1 6093 broad.mit.edu 37 18 18546931 18546931 + Missense_Mutation SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:18546931G>C uc002kte.2 - 27 4240 c.3299C>G c.(3298-3300)TCT>TGT p.S1100C NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1100 Potential. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) AACACTTGTAGAATCCGAGAG 0.398 31 185 --- --- --- --- PASS CELF4 56853 broad.mit.edu 37 18 34901833 34901833 + Silent SNP C A A rs41352348 byFrequency TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:34901833C>A uc002lae.2 - 3 777 c.381G>T c.(379-381)CCG>CCT p.P127P CELF4_uc010dnd.1_Silent_p.P127P|CELF4_uc002lag.2_Silent_p.P127P|CELF4_uc002laf.2_Silent_p.P123P|CELF4_uc002lai.2_Silent_p.P123P NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 127 RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TCACCTGGATCGGCCGGTTCA 0.592 OREG0024927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 55 --- --- --- --- PASS ST8SIA3 51046 broad.mit.edu 37 18 55021655 55021655 + Silent SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:55021655C>T uc002lgn.2 + 2 559 c.202C>T c.(202-204)CTA>TTA p.L68L NM_015879 NP_056963 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide 68 Lumenal (Potential). glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|skin(1) 2 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GCTGAAGTTTCTAGACCCGTC 0.502 48 276 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60570353 60570353 + Silent SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:60570353A>G uc002lis.2 + 8 1243 c.1065A>G c.(1063-1065)TTA>TTG p.L355L NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 867 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TGGTCACATTAGACATCTGTG 0.393 31 236 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67833309 67833309 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr18:67833309C>A uc002lkp.2 - 14 1986 c.1918G>T c.(1918-1920)GAA>TAA p.E640* RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 640 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTCGTGATTTCCAGACAGCAG 0.393 14 53 --- --- --- --- PASS DNMT1 1786 broad.mit.edu 37 19 10260160 10260160 + Missense_Mutation SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:10260160T>A uc002mng.2 - 25 2687 c.2507A>T c.(2506-2508)TAC>TTC p.Y836F DNMT1_uc010xlc.1_Missense_Mutation_p.Y852F|DNMT1_uc002mnh.2_Missense_Mutation_p.Y731F|DNMT1_uc010xld.1_Missense_Mutation_p.Y836F NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 836 BAH 1. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGGGGCTTTGTAGATGACTTT 0.557 208 392 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602314 10602314 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:10602314C>T uc002moq.1 - 3 1420 c.1264G>A c.(1264-1266)GAT>AAT p.D422N KEAP1_uc002mop.1_Missense_Mutation_p.D140N|KEAP1_uc002mor.1_Missense_Mutation_p.D422N NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 422 Kelch 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATGTGGCCATCGATGACCCCC 0.667 5 26 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22271945 22271945 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:22271945G>T uc010ecx.2 + 4 1562 c.1393G>T c.(1393-1395)GGC>TGC p.G465C ZNF257_uc010ecy.2_Missense_Mutation_p.G433C NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 465 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TGAAGAGTGTGGCAAAGCCTT 0.403 32 102 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34791501 34791501 + Silent SNP G C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:34791501G>C uc002nvd.3 + 2 982 c.123G>C c.(121-123)CTG>CTC p.L41L KIAA0355_uc010edk.1_Silent_p.L31L NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 41 ovary(1) 1 Esophageal squamous(110;0.162) GCCGAGCACTGAGTGCTCCCC 0.637 14 69 --- --- --- --- PASS TMEM145 284339 broad.mit.edu 37 19 42828932 42828932 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:42828932G>T uc002otk.1 + 15 1497 c.1445G>T c.(1444-1446)CGT>CTT p.R482L MEGF8_uc002otl.3_5'Flank NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 482 integral to membrane 0 Prostate(69;0.00682) CCGCTGTTCCGTGACCTCCGG 0.726 6 17 --- --- --- --- PASS TSKS 60385 broad.mit.edu 37 19 50243100 50243100 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:50243100C>T uc002ppm.2 - 11 1723 c.1712G>A c.(1711-1713)GGA>GAA p.G571E NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 571 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCATTGTTCCCGTGGACCC 0.562 62 142 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55396678 55396678 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:55396678A>T uc002qhr.1 + 3 299 c.102A>T c.(100-102)AAA>AAT p.K34N FCAR_uc002qhq.2_Missense_Mutation_p.K34N|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.K7N|FCAR_uc010esi.1_Missense_Mutation_p.K7N|FCAR_uc002qhu.1_Missense_Mutation_p.K34N|FCAR_uc002qhv.1_Missense_Mutation_p.K34N|FCAR_uc002qhw.1_Missense_Mutation_p.K22N|FCAR_uc002qhx.1_Missense_Mutation_p.K22N|FCAR_uc002qhy.1_Missense_Mutation_p.K22N|FCAR_uc002qhz.1_Missense_Mutation_p.K22N|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 34 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) TATCTGCCAAATCGAGTCCTG 0.502 4 88 --- --- --- --- PASS ZNF444 55311 broad.mit.edu 37 19 56669923 56669923 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:56669923G>T uc002qmm.2 + 4 725 c.358G>T c.(358-360)GGC>TGC p.G120C ZNF444_uc002qmn.1_Missense_Mutation_p.G120C NM_018337 NP_060807 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 120 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) TGTGACGCAGGGCCCTGGGGC 0.627 24 58 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701294 56701294 + Nonsense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:56701294C>A uc010ygh.1 - 4 1390 c.1390G>T c.(1390-1392)GAG>TAG p.E464* NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 464 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TAGGGCTTCTCTCCGGAGTGG 0.537 18 66 --- --- --- --- PASS ZSCAN5B 342933 broad.mit.edu 37 19 56701908 56701908 + Missense_Mutation SNP T C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:56701908T>C uc010ygh.1 - 4 776 c.776A>G c.(775-777)AAA>AGA p.K259R NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 259 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AGAGGCTCTTTTCTGGGGTTC 0.488 36 179 --- --- --- --- PASS ZSCAN18 65982 broad.mit.edu 37 19 58601243 58601243 + Missense_Mutation SNP A G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr19:58601243A>G uc002qri.2 - 2 701 c.392T>C c.(391-393)CTG>CCG p.L131P ZSCAN18_uc002qrj.3_Missense_Mutation_p.L131P|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.L131P|ZSCAN18_uc010yht.1_Missense_Mutation_p.L187P|ZSCAN18_uc002qrk.1_Missense_Mutation_p.L131P|ZSCAN18_uc002qrl.2_Missense_Mutation_p.L131P NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 131 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TGGCTCTTCCAGGACATCAGC 0.632 38 137 --- --- --- --- PASS PDYN 5173 broad.mit.edu 37 20 1961086 1961086 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr20:1961086G>T uc010gaj.2 - 3 890 c.648C>A c.(646-648)CCC>CCA p.P216P uc002wfu.1_Intron|PDYN_uc002wfv.2_Silent_p.P216P|PDYN_uc010zpt.1_Silent_p.P61P NM_024411 NP_077722 P01213 PDYN_HUMAN beta-neoendorphin-dynorphin preproprotein 216 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity upper_aerodigestive_tract(1)|ovary(1) 2 ACTTGAGCTTGGGACGAATGC 0.592 71 226 --- --- --- --- PASS C20orf196 149840 broad.mit.edu 37 20 5753675 5753675 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr20:5753675C>G uc002wmf.2 + 2 251 c.164C>G c.(163-165)TCT>TGT p.S55C NM_152504 NP_689717 Q8IYI0 CT196_HUMAN hypothetical protein LOC149840 55 0 CCTTATTCTTCTGATGTGGAT 0.413 36 235 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33575444 33575444 + Missense_Mutation SNP A C C TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr20:33575444A>C uc002xbi.1 + 15 1450 c.1358A>C c.(1357-1359)AAC>ACC p.N453T MIR499_hsa-mir-499|MI0003183_5'Flank NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 411 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGTGTAGGGAACGAGTACGTG 0.652 44 253 --- --- --- --- PASS EIF6 3692 broad.mit.edu 37 20 33872226 33872226 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr20:33872226G>A uc002xbv.1 - 1 281 c.65C>T c.(64-66)ACC>ATC p.T22I EIF6_uc002xbx.1_Missense_Mutation_p.T22I|EIF6_uc002xbz.1_Missense_Mutation_p.T22I|EIF6_uc002xby.1_RNA NM_181468 NP_852133 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 22 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAGACAGTAGGTGTTGGTGAG 0.642 62 178 --- --- --- --- PASS LIPI 149998 broad.mit.edu 37 21 15481335 15481335 + Silent SNP T G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr21:15481335T>G uc002yjm.2 - 10 1435 c.1425A>C c.(1423-1425)ACA>ACC p.T475T uc002yjk.2_Intron|uc002yjl.2_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 454 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTGGTGTACATGTGTTTGGAT 0.333 34 220 --- --- --- --- PASS BACH1 571 broad.mit.edu 37 21 30698598 30698598 + Missense_Mutation SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr21:30698598G>T uc002ynj.2 + 3 568 c.453G>T c.(451-453)CAG>CAT p.Q151H BACH1_uc002ynk.2_Missense_Mutation_p.Q151H|BACH1_uc002ynl.2_RNA NM_001186 NP_001177 O14867 BACH1_HUMAN BTB and CNC homology 1 transcription factor 151 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|liver(1) 2 CACACTGTCAGAAAACAGACC 0.383 18 175 --- --- --- --- PASS AGPAT3 56894 broad.mit.edu 37 21 45387860 45387860 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr21:45387860C>T uc002zdv.2 + 4 434 c.212C>T c.(211-213)ACG>ATG p.T71M AGPAT3_uc002zdw.2_Missense_Mutation_p.T71M|AGPAT3_uc002zdx.2_Missense_Mutation_p.T158M|AGPAT3_uc002zdy.2_Missense_Mutation_p.T9M NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 71 Cytoplasmic (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TGGTCCTGCACGGAGTGTACA 0.607 14 77 --- --- --- --- PASS SEPT5 5413 broad.mit.edu 37 22 19707183 19707183 + Missense_Mutation SNP C T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr22:19707183C>T uc002zpv.1 + 3 238 c.113C>T c.(112-114)TCG>TTG p.S38L SEPT5_uc002zpw.1_RNA|SEPT5_uc002zpx.1_RNA|SEPT5_uc002zpy.1_5'Flank NM_002688 NP_002679 Q99719 SEPT5_HUMAN septin 5 38 cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting plasma membrane|septin complex|synaptic vesicle GTP binding|GTPase activity|protein binding|structural molecule activity lung(1) 1 Colorectal(54;0.0993) CACCGCAAGTCGGTGAAGAAA 0.592 18 165 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22550615 22550615 + RNA SNP T A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr22:22550615T>A uc011aim.1 + 11 c.1109T>A Parts of antibodies, mostly variable regions. 0 CCTCACCATCTCTGGACTGAA 0.527 22 115 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39883958 39883958 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr22:39883958G>A uc003axv.3 + 2 845 c.606G>A c.(604-606)AGG>AGA p.R202R MGAT3_uc010gxy.2_Silent_p.R202R NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 202 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) TGGTGCCCAGGGAGGTGCCGC 0.677 4 30 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50724256 50724256 + Silent SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chr22:50724256G>A uc003bkv.3 - 11 2167 c.2061C>T c.(2059-2061)TTC>TTT p.F687F NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 687 Extracellular (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCTTGCCCTGGAAGTTCACAT 0.657 18 187 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22065257 22065257 + Missense_Mutation SNP C G G TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrX:22065257C>G uc004dah.2 + 3 480 c.277C>G c.(277-279)CCA>GCA p.P93A PHEX_uc011mjr.1_Missense_Mutation_p.P93A|PHEX_uc011mjs.1_Translation_Start_Site NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 93 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 AAGCAATAATCCAATTCCCGA 0.413 47 108 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23019068 23019068 + Silent SNP G T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrX:23019068G>T uc004daj.2 + 1 982 c.894G>T c.(892-894)GGG>GGT p.G298G NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 298 Helicase ATP-binding. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 ATGGGCCTGGGATGCTAGTCC 0.418 50 73 --- --- --- --- PASS FOXR2 139628 broad.mit.edu 37 X 55650442 55650442 + Missense_Mutation SNP G A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrX:55650442G>A uc004duo.2 + 1 610 c.298G>A c.(298-300)GGA>AGA p.G100R NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN forkhead box R2 100 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding lung(2)|central_nervous_system(1) 3 AAAGCCCAGTGGAAAAGAGGA 0.542 29 36 --- --- --- --- PASS ZC3H12B 340554 broad.mit.edu 37 X 64722205 64722205 + Missense_Mutation SNP C A A TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrX:64722205C>A uc010nko.2 + 5 1603 c.1594C>A c.(1594-1596)CAT>AAT p.H532N NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 532 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CATGGGGGACCATGGCTACTA 0.478 42 48 --- --- --- --- PASS ZFY 7544 broad.mit.edu 37 Y 2829519 2829519 + Missense_Mutation SNP A T T TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrY:2829519A>T uc004fqj.2 + 3 787 c.466A>T c.(466-468)AGT>TGT p.S156C ZFY_uc010nwd.1_Missense_Mutation_p.S156C|ZFY_uc011nan.1_Intron|ZFY_uc010nwe.2_Missense_Mutation_p.S130C NM_003411 NP_003402 P08048 ZFY_HUMAN zinc finger protein, Y-linked isoform 1 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGTGCATGATAGTGTAGTGGA 0.418 56 124 --- --- --- --- PASS ZCCHC12 170261 broad.mit.edu 37 X 117960025 117960025 + Frame_Shift_Del DEL C - - TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrX:117960025delC uc004equ.2 + 4 1291 c.818delC c.(817-819)TCCfs p.S273fs NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 CTCGACGACTCCGATGAGGAT 0.582 78 82 --- --- --- --- TSPY3 728137 broad.mit.edu 37 Y 9366667 9366672 + In_Frame_Del DEL GAAGAT - - TCGA-21-1077-01A-01D-1521-08 TCGA-21-1077-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx a71d74cb-5b10-4787-a654-7049cbb49a92 8ea6d606-b7af-41c5-a84f-0bf9485fcf7c g.chrY:9366667_9366672delGAAGAT uc004fse.2 + 2 553_558 c.526_531delGAAGAT c.(526-531)GAAGATdel p.ED178del TSPY3_uc004fsf.2_In_Frame_Del_p.ED178del NM_001077697 NP_001071165 Q01534 TSPY1_HUMAN testis specific protein, Y-linked 3 178_179 cell differentiation|cell proliferation|gonadal mesoderm development|nucleosome assembly|spermatogenesis cytoplasm|nucleus identical protein binding 0 GATCACTGACGAAGATGAAGACATGC 0.515 8 5 --- --- --- ---