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 GNB1 2782 broad.mit.edu 37 1 1756837 1756837 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:1756837C>A uc001aif.2 - 3 388 c.56G>T c.(55-57)CGA>CTA p.R19L GNB1_uc009vky.2_5'UTR NM_002074 NP_002065 P62873 GBB1_HUMAN guanine nucleotide-binding protein, beta-1 19 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) ACTACATACTCGAATCTGGTT 0.403 12 250 --- --- --- --- PASS PER3 8863 broad.mit.edu 37 1 7887545 7887545 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:7887545G>T uc001aoo.2 + 17 2707 c.2532G>T c.(2530-2532)TTG>TTT p.L844F PER3_uc009vmg.1_Missense_Mutation_p.L852F|PER3_uc009vmh.1_Missense_Mutation_p.L845F|PER3_uc001aop.2_Missense_Mutation_p.L852F|PER3_uc010nzw.1_Missense_Mutation_p.L533F NM_016831 NP_058515 P56645 PER3_HUMAN period 3 844 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TTCCTTACTTGGATACTTTTA 0.567 7 115 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11217271 11217271 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:11217271G>T uc001asd.2 - 30 4528 c.4407C>A c.(4405-4407)ACC>ACA p.T1469T NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1469 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CGTCCTTGTTGGTGTCCATTT 0.542 6 61 --- --- --- --- PASS PRAMEF1 65121 broad.mit.edu 37 1 12854104 12854104 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:12854104G>T uc001auj.1 + 3 431 c.328G>T c.(328-330)GAG>TAG p.E110* NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 110 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGATGTTGACGAGAATTTCTG 0.532 7 171 --- --- --- --- PASS NBPF1 55672 broad.mit.edu 37 1 16893674 16893674 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:16893674C>A uc009vos.1 - 26 3952 c.3064G>T c.(3064-3066)GGA>TGA p.G1022* NBPF1_uc009vot.1_Nonsense_Mutation_p.E405*|NBPF1_uc001ayz.1_Nonsense_Mutation_p.E405*|NBPF1_uc010oce.1_3'UTR NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 1022 NBPF 6. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AGGTACTCACCATCCATGTCA 0.463 16 743 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19408050 19408050 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:19408050C>A uc001bbi.2 - 103 15030 c.15026G>T c.(15025-15027)CGA>CTA p.R5009L UBR4_uc001bbf.2_5'UTR|UBR4_uc010ocv.1_Missense_Mutation_p.R532L|UBR4_uc009vph.2_Missense_Mutation_p.R643L|UBR4_uc010ocw.1_Missense_Mutation_p.R673L|UBR4_uc001bbg.2_Missense_Mutation_p.R720L|UBR4_uc001bbh.2_Missense_Mutation_p.R718L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 5009 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CTTCTCTTCTCGGGAAGTTGC 0.507 5 77 --- --- --- --- PASS PLA2G2E 30814 broad.mit.edu 37 1 20249204 20249204 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:20249204C>A uc001bct.1 - 2 143 c.85G>T c.(85-87)GAG>TAG p.E29* NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE precursor 29 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTCATCTTCTCGATCATCACC 0.522 4 30 --- --- --- --- PASS EIF4G3 8672 broad.mit.edu 37 1 21177916 21177916 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:21177916G>T uc001bec.2 - 23 3695 c.3439C>A c.(3439-3441)CGG>AGG p.R1147R EIF4G3_uc010odi.1_Silent_p.R751R|EIF4G3_uc010odj.1_Silent_p.R1146R|EIF4G3_uc009vpz.2_Silent_p.R867R|EIF4G3_uc001bed.2_Silent_p.R1147R|EIF4G3_uc001bef.2_Silent_p.R1183R|EIF4G3_uc001bee.2_Silent_p.R1153R NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1147 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTATTTGGCCGAGCTGTTGCA 0.488 5 56 --- --- --- --- PASS SEPN1 57190 broad.mit.edu 37 1 26142090 26142090 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:26142090G>T uc010oer.1 + 16 1709 c.1654G>T c.(1654-1656)GAG>TAG p.E552* SEPN1_uc010oes.1_Nonsense_Mutation_p.E518* NM_020451 NP_065184 Q9NZV5 SELN_HUMAN selenoprotein N, 1 isoform 1 precursor 552 endoplasmic reticulum membrane|extracellular region protein binding ovary(2) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) CGTGAAGCCCGAGGAAATCGA 0.602 5 72 --- --- --- --- PASS PTAFR 5724 broad.mit.edu 37 1 28476668 28476668 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:28476668C>G uc001bpl.2 - 2 992 c.865G>C c.(865-867)GAC>CAC p.D289H PTAFR_uc001bpm.3_Missense_Mutation_p.D289H|PTAFR_uc009vte.2_Missense_Mutation_p.D289H NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 289 Helical; Name=7; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ATAACAGGGTCTAAGACACAG 0.537 5 18 --- --- --- --- PASS LAPTM5 7805 broad.mit.edu 37 1 31208107 31208107 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:31208107G>T uc001bsc.2 - 7 703 c.612C>A c.(610-612)TAC>TAA p.Y204* NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 204 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) ACTTGAACATGTAGACCTGGA 0.552 5 67 --- --- --- --- PASS AK2 204 broad.mit.edu 37 1 33480161 33480161 + Nonsense_Mutation SNP C A A rs148421308 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:33480161C>A uc001bwp.1 - 5 502 c.460G>T c.(460-462)GAG>TAG p.E154* uc001bwn.2_Intron|AK2_uc001bwo.1_Nonsense_Mutation_p.E154*|AK2_uc010ohq.1_Nonsense_Mutation_p.E146*|AK2_uc009vud.1_Nonsense_Mutation_p.E112*|AK2_uc010ohr.1_Nonsense_Mutation_p.E106*|AK2_uc001bwq.1_Nonsense_Mutation_p.E106* NM_001625 NP_001616 P54819 KAD2_HUMAN adenylate kinase 2 isoform a 154 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TTGAACTCCTCGTGGTAGGAA 0.383 7 197 --- --- --- --- PASS ZMYM4 9202 broad.mit.edu 37 1 35879662 35879662 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:35879662G>T uc001byt.2 + 27 4118 c.4038G>T c.(4036-4038)TGG>TGT p.W1346C ZMYM4_uc009vuu.2_Missense_Mutation_p.W1314C|ZMYM4_uc001byu.2_Missense_Mutation_p.W1022C|ZMYM4_uc009vuv.2_Missense_Mutation_p.W1085C NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1346 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAAAATATGGGAACCTACAA 0.279 7 74 --- --- --- --- PASS EIF2C1 26523 broad.mit.edu 37 1 36383327 36383327 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:36383327G>T uc001bzl.2 + 16 2375 c.2162G>T c.(2161-2163)CGA>CTA p.R721L EIF2C1_uc001bzk.2_Missense_Mutation_p.R646L|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 721 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAGAATGAGCGAGTGAGTGAG 0.502 6 96 --- --- --- --- PASS SF3A3 10946 broad.mit.edu 37 1 38453319 38453319 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:38453319C>A uc001cci.2 - 4 353 c.229G>T c.(229-231)GGA>TGA p.G77* SF3A3_uc010oik.1_Intron NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 77 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TCATTGGGTCCTGAAATGGCA 0.403 7 116 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39801335 39801335 + Silent SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:39801335A>G uc010oiu.1 + 1 4526 c.4395A>G c.(4393-4395)AAA>AAG p.K1465K MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3030 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) CAAGTGAAAAAGGGAAAGAAG 0.368 3 66 --- --- --- --- PASS PABPC4 8761 broad.mit.edu 37 1 40035605 40035605 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:40035605G>T uc010oiv.1 - 4 1471 c.573C>A c.(571-573)ACC>ACA p.T191T PABPC4_uc001cdl.2_Silent_p.T191T|PABPC4_uc001cdm.2_Silent_p.T191T|SNORA55_uc001cdo.1_5'Flank NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 191 RRM 3. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TATAAACATTGGTGAATTCCT 0.423 6 57 --- --- --- --- PASS ZNF642 339559 broad.mit.edu 37 1 40961342 40961342 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:40961342C>A uc001cfo.2 + 6 1486 c.1192C>A c.(1192-1194)CTT>ATT p.L398I ZNF642_uc009vwb.2_Missense_Mutation_p.L398I|ZNF642_uc010ojk.1_Missense_Mutation_p.L399I NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 398 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) GATTAGACACCTTAGTGAACA 0.408 5 34 --- --- --- --- PASS WDR65 149465 broad.mit.edu 37 1 43649507 43649507 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:43649507C>A uc001cip.1 + 4 841 c.720C>A c.(718-720)ACC>ACA p.T240T EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.T229T|WDR65_uc001ciq.1_Silent_p.T240T NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 240 skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGAACCTACCAATGGCTCAA 0.483 5 74 --- --- --- --- PASS DPH2 1802 broad.mit.edu 37 1 44437066 44437066 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:44437066G>T uc001ckz.2 + 4 687 c.492G>T c.(490-492)TTG>TTT p.L164F DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.L29F|DPH2_uc001clb.2_Missense_Mutation_p.L88F NM_001384 NP_001375 Q9BQC3 DPH2_HUMAN diphthamide biosynthesis protein 2 isoform a 164 peptidyl-diphthamide biosynthetic process from peptidyl-histidine cytoplasm ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CAGAGGCTTTGGCTACTCTCC 0.587 5 18 --- --- --- --- PASS FOXD2 2306 broad.mit.edu 37 1 47904255 47904255 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:47904255T>C uc001crm.2 + 1 2567 c.448T>C c.(448-450)TTG>CTG p.L150L NM_004474 NP_004465 O60548 FOXD2_HUMAN forkhead box D2 150 Fork-head. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) GCGGCTGACGTTGAGCGAGAT 0.582 6 21 --- --- --- --- PASS PRKAA2 5563 broad.mit.edu 37 1 57170117 57170117 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:57170117G>T uc001cyk.3 + 7 1333 c.1262G>T c.(1261-1263)CGA>CTA p.R421L NM_006252 NP_006243 P54646 AAPK2_HUMAN AMP-activated protein kinase alpha 2 catalytic 421 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(4)|ovary(1)|stomach(1) 6 GAAGTTTACCGAGCTATGAAG 0.378 5 82 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76363685 76363685 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:76363685G>A uc001dhd.1 + 18 2490 c.2449G>A c.(2449-2451)GTA>ATA p.V817I NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 817 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 AGTTCAACATGTAAAGAATAC 0.333 MMR 21 82 --- --- --- --- PASS FUBP1 8880 broad.mit.edu 37 1 78414917 78414917 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:78414917C>A uc001dii.2 - 19 1938 c.1849G>T c.(1849-1851)GAG>TAG p.E617* FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.E638* NM_003902 NP_003893 Q96AE4 FUBP1_HUMAN far upstream element-binding protein 617 transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(2)|lung(1) 3 CTATAATACTCAGCCCAGGCT 0.483 6 51 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79383618 79383618 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:79383618C>A uc001diq.3 - 11 1735 c.1579G>T c.(1579-1581)GGA>TGA p.G527* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 527 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGCAAAAATCCCTTGTTGTAG 0.418 7 123 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82409087 82409087 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:82409087G>A uc001dit.3 + 6 1013 c.832G>A c.(832-834)GCC>ACC p.A278T LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.A278T|LPHN2_uc001div.2_Missense_Mutation_p.A278T|LPHN2_uc009wcd.2_Missense_Mutation_p.A278T NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 278 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.A278P(2) ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GGTCATTTACGCCACTGAACA 0.428 11 38 --- --- --- --- PASS SSX2IP 117178 broad.mit.edu 37 1 85127909 85127909 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:85127909C>A uc001dkh.2 - 9 1174 c.899G>T c.(898-900)AGA>ATA p.R300I SSX2IP_uc001dkf.2_Missense_Mutation_p.R273I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.R273I|SSX2IP_uc001dki.2_Missense_Mutation_p.R300I|SSX2IP_uc010osa.1_Missense_Mutation_p.R273I|SSX2IP_uc001dkj.2_Missense_Mutation_p.R300I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.R296I NM_014021 NP_054740 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting 300 cell adhesion nucleus|protein complex ovary(2) 2 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TACTCTTTCTCTAGGTTTCTT 0.338 9 172 --- --- --- --- PASS CLCA2 9635 broad.mit.edu 37 1 86900260 86900260 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:86900260G>C uc001dlr.3 + 6 966 c.804G>C c.(802-804)CAG>CAC p.Q268H NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 268 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TACAGAACCAGATGTGCAGCC 0.453 10 49 --- --- --- --- PASS CLCA4 22802 broad.mit.edu 37 1 87031604 87031604 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:87031604C>A uc009wcs.2 + 6 899 c.855C>A c.(853-855)ACC>ACA p.T285T CLCA4_uc009wct.2_Silent_p.T48T|CLCA4_uc009wcu.2_Silent_p.T105T NM_012128 NP_036260 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 285 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity ovary(2) 2 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) TTAAAAACACCATACCCATGG 0.408 8 97 --- --- --- --- PASS LRRC8B 23507 broad.mit.edu 37 1 90048540 90048540 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:90048540G>T uc001dni.2 + 7 838 c.331G>T c.(331-333)GAG>TAG p.E111* LRRC8B_uc001dnh.2_Nonsense_Mutation_p.E111*|LRRC8B_uc001dnj.2_Nonsense_Mutation_p.E111* NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 111 integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CGTCTGTTACGAGAAACAGCT 0.512 7 90 --- --- --- --- PASS ZNF644 84146 broad.mit.edu 37 1 91406192 91406192 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:91406192G>T uc001dnw.2 - 3 861 c.719C>A c.(718-720)ACA>AAA p.T240K ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T240K NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCCCGTTACTGTATTGACACA 0.368 6 79 --- --- --- --- PASS BTBD8 284697 broad.mit.edu 37 1 92546225 92546225 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:92546225C>A uc001doo.2 + 1 364 c.97C>A c.(97-99)CGG>AGG p.R33R BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 33 nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) GCCGTGTGAGCGGCGCCGGCT 0.627 4 16 --- --- --- --- PASS RPL5 6125 broad.mit.edu 37 1 93303026 93303026 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:93303026C>A uc001doz.2 + 6 619 c.541C>A c.(541-543)CCT>ACT p.P181T FAM69A_uc001dpc.2_Intron|RPL5_uc001dpa.2_RNA|RPL5_uc001dpb.2_Missense_Mutation_p.P131T|RPL5_uc001dpd.2_5'UTR NM_000969 NP_000960 P46777 RL5_HUMAN ribosomal protein L5 181 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome 0 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CAAACGATTCCCTGGTTATGA 0.358 5 37 --- --- --- --- PASS CCDC18 343099 broad.mit.edu 37 1 93705398 93705398 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:93705398C>A uc001dpq.2 + 21 3448 c.3280C>A c.(3280-3282)CAA>AAA p.Q1094K CCDC18_uc009wdl.1_Missense_Mutation_p.Q611K NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 975 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) ACAGAAGGCTCAATTATCATT 0.333 6 53 --- --- --- --- PASS GCLM 2730 broad.mit.edu 37 1 94367168 94367168 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:94367168C>A uc001dqg.1 - 3 543 c.250G>T c.(250-252)GAT>TAT p.D84Y NM_002061 NP_002052 P48507 GSH0_HUMAN glutamate-cysteine ligase regulatory protein 84 glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process cytosol|soluble fraction glutamate-cysteine ligase catalytic subunit binding ovary(1) 1 all_lung(203;0.000815)|Lung NSC(277;0.00363) all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TCTCTTTCATCAGGATTTATC 0.303 27 95 --- --- --- --- PASS SLC30A7 148867 broad.mit.edu 37 1 101377733 101377733 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:101377733G>T uc001dtn.2 + 5 637 c.450G>T c.(448-450)GTG>GTT p.V150V SLC30A7_uc001dto.2_Silent_p.V150V NM_001144884 NP_001138356 Q8NEW0 ZNT7_HUMAN zinc transporter like 2 150 Helical; (Potential). zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding 0 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TTGGGTTTGTGGTAAACCTAA 0.383 8 190 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103483389 103483389 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:103483389T>A uc001dul.2 - 11 1718 c.1400A>T c.(1399-1401)GAC>GTC p.D467V COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.D479V|COL11A1_uc001dun.2_Missense_Mutation_p.D428V|COL11A1_uc009weh.2_Missense_Mutation_p.D351V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 467 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATCGCCAGGGTCACCAGGGGG 0.378 18 53 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104118116 104118116 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:104118116G>T uc001duq.2 + 9 1671 c.1055G>T c.(1054-1056)CGA>CTA p.R352L AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R352L|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 352 Chloride (By similarity). carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) GGTTTTACACGAGTAATGTCA 0.333 7 268 --- --- --- --- PASS MOV10 4343 broad.mit.edu 37 1 113231656 113231656 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:113231656C>A uc001eck.2 + 3 507 c.237C>A c.(235-237)CTC>CTA p.L79L MOV10_uc001ecl.2_Silent_p.L79L|MOV10_uc001ecn.2_Silent_p.L79L|MOV10_uc001ecm.2_Silent_p.L19L|MOV10_uc009wgj.1_Silent_p.L19L NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 79 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCTTCAGACTCGACCGCTGGG 0.537 5 58 --- --- --- --- PASS NRAS 4893 broad.mit.edu 37 1 115256591 115256591 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:115256591G>T uc009wgu.2 - 3 374 c.120C>A c.(118-120)TAC>TAA p.Y40* NM_002524 NP_002515 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 40 Effector region. activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity haematopoietic_and_lymphoid_tissue(1008)|skin(956)|thyroid(334)|large_intestine(62)|NS(60)|soft_tissue(32)|lung(31)|upper_aerodigestive_tract(25)|urinary_tract(12)|liver(10)|adrenal_gland(9)|autonomic_ganglia(8)|testis(8)|central_nervous_system(8)|prostate(8)|breast(7)|biliary_tract(6)|ovary(6)|stomach(5)|pancreas(5)|endometrium(2)|kidney(2)|cervix(2)|eye(1) 2607 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGTTTTCTGTAAGAATCCT 0.443 50 Mis melanoma|MM|AML|thyroid Noonan_syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 5 85 --- --- --- --- PASS TRIM45 80263 broad.mit.edu 37 1 117660706 117660706 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:117660706G>T uc001egz.2 - 2 1760 c.1172C>A c.(1171-1173)ACG>AAG p.T391K TRIM45_uc009whe.2_Intron|TRIM45_uc001eha.2_Missense_Mutation_p.T287K NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN tripartite motif-containing 45 isoform 1 391 cytoplasm|nucleus zinc ion binding central_nervous_system(1) 1 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) GGTATTAATCGTACCATAAAT 0.463 6 110 --- --- --- --- PASS HSD3B2 3284 broad.mit.edu 37 1 119964870 119964870 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:119964870G>T uc001ehs.2 + 3 1519 c.746G>T c.(745-747)CGA>CTA p.R249L HSD3B2_uc001eht.2_Missense_Mutation_p.R249L|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 249 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CCAAGTGTCCGAGGTCAATTC 0.512 4 38 --- --- --- --- PASS REG4 83998 broad.mit.edu 37 1 120342482 120342482 + Nonsense_Mutation SNP C A A rs149733140 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:120342482C>A uc001eig.2 - 5 609 c.169G>T c.(169-171)GAG>TAG p.E57* REG4_uc001eif.2_Nonsense_Mutation_p.E57* NM_001159352 NP_001152824 Q9BYZ8 REG4_HUMAN regenerating islet-derived family, member 4 57 C-type lectin. extracellular region sugar binding ovary(1) 1 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) GACTGACACTCGAGCTATGTA 0.507 8 89 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144857696 144857696 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:144857696C>A uc001elw.3 - 39 6649 c.6358G>T c.(6358-6360)GGT>TGT p.G2120C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G2014C|PDE4DIP_uc001elv.3_Missense_Mutation_p.G1127C NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2120 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAATTCATACCAACATCCCGG 0.512 T PDGFRB MPD 8 142 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 145015873 145015873 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:145015873C>A uc001elx.3 - 3 550 c.215G>T c.(214-216)CGA>CTA p.R72L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.R72L|PDE4DIP_uc001elo.2_Missense_Mutation_p.R143L|PDE4DIP_uc001emh.2_Missense_Mutation_p.R143L|uc001emj.2_Intron NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 6 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCAAAGTCTCGAAGAGCCTG 0.433 T PDGFRB MPD 10 595 --- --- --- --- PASS RPRD2 23248 broad.mit.edu 37 1 150429786 150429786 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:150429786G>T uc009wlr.2 + 8 1094 c.893G>T c.(892-894)CGA>CTA p.R298L RPRD2_uc010pcc.1_Missense_Mutation_p.R272L|RPRD2_uc001eup.3_Missense_Mutation_p.R272L NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 298 protein binding ovary(1) 1 TTTGCTAACCGAGTAAACAAT 0.358 5 73 --- --- --- --- PASS MCL1 4170 broad.mit.edu 37 1 150550762 150550762 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:150550762G>T uc001euz.2 - 2 1024 c.894C>A c.(892-894)CTC>CTA p.L298L MCL1_uc010pch.1_Silent_p.L188L|MCL1_uc001eva.2_Intron NM_021960 NP_068779 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 isoform 1 298 anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity 0 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) TTGTCCTTACGAGAACGTCTG 0.428 9 159 --- --- --- --- PASS CTSK 1513 broad.mit.edu 37 1 150779234 150779234 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:150779234C>A uc001evp.1 - 2 172 c.48G>T c.(46-48)CTG>CTT p.L16L CTSK_uc001evq.1_5'UTR|CTSK_uc009wma.1_RNA NM_000396 NP_000387 P43235 CATK_HUMAN cathepsin K preproprotein 16 proteolysis lysosome cysteine-type endopeptidase activity|protein binding skin(1) 1 all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CCTCAGGGTACAGAGCAAAGC 0.532 7 72 --- --- --- --- PASS MLLT11 10962 broad.mit.edu 37 1 151039902 151039902 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:151039902G>T uc001ewq.2 + 2 1087 c.202G>T c.(202-204)GAG>TAG p.E68* NM_006818 NP_006809 Q13015 AF1Q_HUMAN MLLT11 protein 68 positive regulation of apoptosis|positive regulation of mitochondrial depolarization|positive regulation of release of cytochrome c from mitochondria|positive regulation of transcription, DNA-dependent 0 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TGGCCTCCTTGAGTACAGCAC 0.522 7 97 --- --- --- --- PASS PSMD4 5710 broad.mit.edu 37 1 151239682 151239682 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:151239682G>T uc001exl.2 + 10 1059 c.997G>T c.(997-999)GAG>TAG p.E333* PSMD4_uc001exn.2_Nonsense_Mutation_p.E336* NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 333 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAGGACCCCGAGTTCCTTCA 0.557 6 94 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152127904 152127904 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:152127904G>T uc001ezs.1 - 3 1736 c.1671C>A c.(1669-1671)TCC>TCA p.S557S NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 557 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 GACCGTAGTGGGAACTCTGGC 0.512 11 323 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152128930 152128930 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:152128930G>T uc001ezs.1 - 3 710 c.645C>A c.(643-645)ACC>ACA p.T215T NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 215 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 CCTGGCCACTGGTAGATTTGT 0.418 8 167 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187072 152187072 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:152187072C>A uc001ezt.1 - 3 7109 c.7033G>T c.(7033-7035)GAG>TAG p.E2345* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2345 25. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTAGACTCGTGGTGACCA 0.567 12 484 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152276039 152276039 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:152276039C>A uc001ezu.1 - 3 11359 c.11323G>T c.(11323-11325)GAG>TAG p.E3775* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3775 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCGATTGCTCGTGGTAGGAT 0.597 Ichthyosis 7 173 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152281424 152281424 + Missense_Mutation SNP G T T rs146743261 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:152281424G>T uc001ezu.1 - 3 5974 c.5938C>A c.(5938-5940)CGT>AGT p.R1980S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1980 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTGTGTGACGAGTGCCTGAT 0.572 Ichthyosis 9 353 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154110594 154110594 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:154110594C>T uc001fdw.2 - 6 910 c.838G>A c.(838-840)GGG>AGG p.G280R NUP210L_uc009woq.2_5'Flank|NUP210L_uc010peh.1_Missense_Mutation_p.G280R NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 280 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GTCACTCTCCCTTGAACCATT 0.338 19 93 --- --- --- --- PASS ASH1L 55870 broad.mit.edu 37 1 155449247 155449247 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:155449247T>C uc009wqq.2 - 3 3894 c.3414A>G c.(3412-3414)TTA>TTG p.L1138L ASH1L_uc001fkt.2_Silent_p.L1138L|ASH1L_uc009wqr.1_Silent_p.L1138L NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1138 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTCTGGAGTGTAAATGCAAAT 0.473 18 39 --- --- --- --- PASS TMEM79 84283 broad.mit.edu 37 1 156261304 156261304 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:156261304G>A uc010phi.1 + 4 1296 c.1100G>A c.(1099-1101)CGC>CAC p.R367H TMEM79_uc001fod.2_Missense_Mutation_p.R208H|TMEM79_uc009wrw.2_Missense_Mutation_p.R367H|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 367 integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) GAGCCGGAGCGCATGCTCACT 0.677 8 68 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156532415 156532415 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:156532415G>T uc001fpf.2 - 9 916 c.841C>A c.(841-843)CAG>AAG p.Q281K IQGAP3_uc009wsb.1_Missense_Mutation_p.Q238K NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 281 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATTTCAGCCTGAGTTAGGTAG 0.507 8 145 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157666025 157666025 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:157666025G>C uc001frb.2 - 7 1229 c.937C>G c.(937-939)CAG>GAG p.Q313E FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.Q313E|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.Q39E|FCRL3_uc001frc.1_Missense_Mutation_p.Q313E NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 313 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CCTGAACCCTGGGCTACTGAG 0.522 17 71 --- --- --- --- PASS CD1B 910 broad.mit.edu 37 1 158300625 158300625 + Silent SNP G T T rs142860948 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:158300625G>T uc001frx.2 - 2 397 c.289C>A c.(289-291)CGA>AGA p.R97R CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Silent_p.R97R NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 97 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) TGTACTTCTCGAGCGAATCCA 0.438 9 255 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158585059 158585059 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:158585059G>T uc001fst.1 - 48 6934 c.6735C>A c.(6733-6735)CTC>CTA p.L2245L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2245 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CAAGCTGGTAGAGCTGGTCCC 0.532 8 125 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158624456 158624456 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:158624456C>A uc001fst.1 - 21 3180 c.2981G>T c.(2980-2982)CGA>CTA p.R994L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 994 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGTGACTTCTCGGGGGCTGCG 0.468 5 62 --- --- --- --- PASS FCER1A 2205 broad.mit.edu 37 1 159275863 159275863 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:159275863T>C uc001ftq.2 + 5 516 c.417T>C c.(415-417)GAT>GAC p.D139D NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 139 Ig-like 2.|Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) GGAACTGGGATGTGTACAAGG 0.493 5 39 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160129229 160129229 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:160129229G>T uc001fve.3 + 6 1170 c.691G>T c.(691-693)GAA>TAA p.E231* ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 231 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGGGGAGTCAGAACCCCAGAG 0.498 6 59 --- --- --- --- PASS POU2F1 5451 broad.mit.edu 37 1 167382310 167382310 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:167382310G>A uc001gec.2 + 16 2042 c.1880G>A c.(1879-1881)AGC>AAC p.S627N POU2F1_uc001ged.2_Missense_Mutation_p.S625N|POU2F1_uc001gee.2_Missense_Mutation_p.S627N|POU2F1_uc010plh.1_Missense_Mutation_p.S564N|POU2F1_uc001gef.2_Missense_Mutation_p.S639N|POU2F1_uc001geg.2_Missense_Mutation_p.S525N NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 627 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 GGTGCTCTCAGCCCAGCTCTA 0.433 24 104 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169510709 169510709 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:169510709C>A uc001ggg.1 - 13 3764 c.3619G>T c.(3619-3621)GAC>TAC p.D1207Y NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1207 B.|2-3.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TGGCTGAGGTCTGGAGAGAGG 0.547 9 179 --- --- --- --- PASS F5 2153 broad.mit.edu 37 1 169529939 169529939 + Missense_Mutation SNP C T T rs118203912 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:169529939C>T uc001ggg.1 - 4 584 c.439G>A c.(439-441)GAA>AAA p.E147K F5_uc010plr.1_RNA NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 147 F5/8 type A 1.|Plastocyanin-like 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TAGGTGTATTCTCGGCCTGGA 0.517 17 80 --- --- --- --- PASS DARS2 55157 broad.mit.edu 37 1 173800688 173800688 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:173800688G>T uc001gjh.1 + 5 822 c.412G>T c.(412-414)GAG>TAG p.E138* NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 138 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding central_nervous_system(2) 2 L-Aspartic Acid(DB00128) GCCAACAGGTGAGATTGAAAT 0.353 11 311 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173930278 173930278 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:173930278C>A uc001gju.3 - 12 2394 c.2307G>T c.(2305-2307)AAG>AAT p.K769N RC3H1_uc010pms.1_Missense_Mutation_p.K769N|RC3H1_uc001gjv.2_Missense_Mutation_p.K769N|RC3H1_uc010pmt.1_Missense_Mutation_p.K769N NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 769 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GAGAGATAACCTTTCTTTCCT 0.458 7 115 --- --- --- --- PASS GPR52 9293 broad.mit.edu 37 1 174417805 174417805 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:174417805C>A uc001gka.1 + 1 594 c.556C>A c.(556-558)CAT>AAT p.H186N RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron|uc010pmu.1_RNA NM_005684 NP_005675 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 186 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity skin(1) 1 ACCTGGTTACCATGGTGACAT 0.438 8 184 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175087722 175087722 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:175087722C>A uc001gkl.1 + 11 2525 c.2412C>A c.(2410-2412)GTC>GTA p.V804V NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 804 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AAAACCTGGTCACTGACTGGG 0.512 11 52 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183103915 183103915 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:183103915C>A uc001gpy.3 + 23 4227 c.3970C>A c.(3970-3972)CTT>ATT p.L1324I NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1324 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCAAGAACCTTCTGGAGAA 0.423 12 251 --- --- --- --- PASS LAMC2 3918 broad.mit.edu 37 1 183177132 183177132 + Nonsense_Mutation SNP G T T rs146325169 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:183177132G>T uc001gqa.2 + 2 510 c.196G>T c.(196-198)GAG>TAG p.E66* LAMC2_uc001gpz.3_Nonsense_Mutation_p.E66*|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 66 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 CATTCACTGCGAGAAGTGCAA 0.488 7 207 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186327695 186327695 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:186327695C>A uc001grv.2 - 13 1774 c.1477G>T c.(1477-1479)GTA>TTA p.V493L TPR_uc010pop.1_Missense_Mutation_p.V569L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 493 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) AGATCTTTTACTTGTATTTCC 0.343 T NTRK1 papillary thyroid 6 107 --- --- --- --- PASS PLA2G4A 5321 broad.mit.edu 37 1 186880486 186880486 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:186880486C>T uc001gsc.2 + 7 728 c.523C>T c.(523-525)CCA>TCA p.P175S PLA2G4A_uc010pos.1_Intron NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 175 Phospholipid binding (Probable).|PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) ACTCTTGGGTCCAAAGAATAG 0.388 17 75 --- --- --- --- PASS RGS1 5996 broad.mit.edu 37 1 192547369 192547369 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:192547369G>T uc001gsi.1 + 4 364 c.298G>T c.(298-300)GGA>TGA p.G100* RGS1_uc010pou.1_Nonsense_Mutation_p.G100* NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 100 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) AAATGTCTTTGGAAGTTTCCT 0.363 8 182 --- --- --- --- PASS RGS13 6003 broad.mit.edu 37 1 192613497 192613497 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:192613497G>T uc001gsj.2 + 4 314 c.33G>T c.(31-33)ATG>ATT p.M11I RGS13_uc001gsk.2_Missense_Mutation_p.M11I NM_002927 NP_002918 O14921 RGS13_HUMAN regulator of G-protein signalling 13 11 plasma membrane GTPase activator activity|signal transducer activity 0 TTTGTAAGATGTGCAGAGATG 0.284 9 301 --- --- --- --- PASS UCHL5 51377 broad.mit.edu 37 1 192993077 192993077 + Splice_Site SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:192993077C>A uc001gsm.2 - 8 761 c.630_splice c.e8-1 p.K210_splice UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.K210_splice|UCHL5_uc010pov.1_Splice_Site|UCHL5_uc001gsp.2_Splice_Site_p.K210_splice|UCHL5_uc001gsq.2_Splice_Site_p.K210_splice|UCHL5_uc010pow.1_Splice_Site_p.K86_splice|UCHL5_uc010pox.1_Splice_Site_p.K86_splice NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 TTCACTGTACCTAGAAGAAAA 0.303 6 61 --- --- --- --- PASS FAM58B 339521 broad.mit.edu 37 1 200182884 200182884 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:200182884G>T uc009wzi.1 + 1 229 c.193G>T c.(193-195)GAG>TAG p.E65* NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 65 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) GTTCTTCTGCGAGACCATCCT 0.537 7 97 --- --- --- --- PASS ZNF281 23528 broad.mit.edu 37 1 200377843 200377843 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:200377843G>T uc001gve.2 - 2 1098 c.991C>A c.(991-993)CAT>AAT p.H331N ZNF281_uc001gvf.1_Missense_Mutation_p.H331N|ZNF281_uc001gvg.1_Missense_Mutation_p.H295N NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 331 C2H2-type 3. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 CTCTCCATATGGTACTTCTGA 0.383 8 194 --- --- --- --- PASS ZNF281 23528 broad.mit.edu 37 1 200378069 200378069 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:200378069G>T uc001gve.2 - 2 872 c.765C>A c.(763-765)TCC>TCA p.S255S uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Silent_p.S255S|ZNF281_uc001gvg.1_Silent_p.S219S NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 255 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 TCTGACTTGGGGAGAGGATGG 0.483 6 86 --- --- --- --- PASS RABIF 5877 broad.mit.edu 37 1 202850122 202850122 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:202850122C>A uc001gyl.2 - 2 393 c.356G>T c.(355-357)CGA>CTA p.R119L NM_002871 NP_002862 P47224 MSS4_HUMAN RAB-interacting factor 119 cellular membrane fusion|protein transport|small GTPase mediated signal transduction guanyl-nucleotide exchange factor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) ATGGGAAACTCGTTCCAAGGC 0.478 6 59 --- --- --- --- PASS NFASC 23114 broad.mit.edu 37 1 204948632 204948632 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:204948632G>T uc001hbj.2 + 19 2449 c.2121G>T c.(2119-2121)GAG>GAT p.E707D NFASC_uc010pra.1_Missense_Mutation_p.E703D|NFASC_uc001hbi.2_Missense_Mutation_p.E703D|NFASC_uc010prb.1_Missense_Mutation_p.E718D|NFASC_uc010prc.1_Missense_Mutation_p.E274D|NFASC_uc001hbk.1_Missense_Mutation_p.E513D|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 707 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCATCAACGAGGTTGGGAGCA 0.622 7 64 --- --- --- --- PASS DSTYK 25778 broad.mit.edu 37 1 205138464 205138464 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:205138464A>T uc001hbw.2 - 3 1215 c.1151T>A c.(1150-1152)CTG>CAG p.L384Q DSTYK_uc001hbx.2_Missense_Mutation_p.L384Q|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 384 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 AGTGATCTGCAGGTCCCGCTG 0.473 6 43 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207639906 207639906 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:207639906G>T uc001hfw.2 + 2 188 c.94G>T c.(94-96)GGC>TGC p.G32C CR2_uc001hfv.2_Missense_Mutation_p.G32C|CR2_uc009xch.2_Missense_Mutation_p.G32C NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 32 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TATCCTAAATGGCCGGATTAG 0.418 9 188 --- --- --- --- PASS TMEM206 55248 broad.mit.edu 37 1 212560296 212560296 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:212560296C>A uc001hjc.3 - 3 448 c.280G>T c.(280-282)GAG>TAG p.E94* TMEM206_uc010pte.1_Nonsense_Mutation_p.E155* NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 94 Extracellular (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TTGAGTTTCTCACGAAAGTCT 0.557 7 98 --- --- --- --- PASS C1orf227 149643 broad.mit.edu 37 1 213009399 213009399 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:213009399G>T uc001hjq.2 - 2 201 c.93C>A c.(91-93)TCC>TCA p.S31S NM_001024601 NP_001019772 Q537H7 CA227_HUMAN hypothetical protein LOC149643 31 0 CCAAGCAGTTGGATTCACGCT 0.408 7 110 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216052154 216052154 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:216052154A>T uc001hku.1 - 42 8897 c.8510T>A c.(8509-8511)GTT>GAT p.V2837D NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2837 Extracellular (Potential).|Fibronectin type-III 15. 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) AGAAATCACAACATATGATTC 0.438 HNSCC(13;0.011) 6 38 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216500991 216500991 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:216500991C>A uc001hku.1 - 5 1177 c.790G>T c.(790-792)GAG>TAG p.E264* USH2A_uc001hkv.2_Nonsense_Mutation_p.E264* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 264 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) ACAAACTGCTCTAAACCTGCA 0.368 HNSCC(13;0.011) 7 89 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222801477 222801477 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:222801477G>A uc001hnl.2 + 4 924 c.915G>A c.(913-915)GAG>GAA p.E305E MIA3_uc009xea.1_Silent_p.E141E NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 305 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) ATTTTGATGAGGAATTGGATA 0.388 12 67 --- --- --- --- PASS TLR5 7100 broad.mit.edu 37 1 223285199 223285199 + Missense_Mutation SNP C A A rs144418928 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:223285199C>A uc001hnv.1 - 4 1621 c.1175G>T c.(1174-1176)CGA>CTA p.R392L TLR5_uc001hnw.1_Missense_Mutation_p.R392L NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 392 Extracellular (Potential).|LRR 9. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) AGCATTGTCTCGGAGATCCAA 0.378 5 76 --- --- --- --- PASS EPHX1 2052 broad.mit.edu 37 1 226016448 226016448 + Silent SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:226016448C>G uc001hpk.2 + 2 98 c.18C>G c.(16-18)CTC>CTG p.L6L EPHX1_uc001hpl.2_Silent_p.L6L NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 6 Helical; Signal-anchor; (Potential). aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) TAGAAATCCTCCTCACTTCAG 0.587 7 38 --- --- --- --- PASS ITPKB 3707 broad.mit.edu 37 1 226923323 226923323 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:226923323C>A uc010pvo.1 - 2 2177 c.1837G>T c.(1837-1839)GAA>TAA p.E613* ITPKB_uc001hqh.2_Nonsense_Mutation_p.E613* NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 613 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) TCTGAGTCTTCGTAGGATGAG 0.612 4 47 --- --- --- --- PASS GUK1 2987 broad.mit.edu 37 1 228334602 228334602 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:228334602G>T uc001hsh.2 + 5 517 c.214G>T c.(214-216)GAG>TAG p.E72* GUK1_uc001hsi.2_Nonsense_Mutation_p.E93*|GUK1_uc001hsj.2_Nonsense_Mutation_p.E12*|GUK1_uc010pvv.1_Nonsense_Mutation_p.E72*|GJC2_uc001hsk.2_5'Flank NM_000858 NP_000849 Q16774 KGUA_HUMAN guanylate kinase 1 isoform b 72 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity 0 Prostate(94;0.0405) CGACTTCATCGAGCATGCCGA 0.602 5 56 --- --- --- --- PASS B3GALNT2 148789 broad.mit.edu 37 1 235647796 235647796 + Nonsense_Mutation SNP C A A rs146090744 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:235647796C>A uc001hxc.2 - 4 626 c.397G>T c.(397-399)GAA>TAA p.E133* B3GALNT2_uc001hxd.1_Nonsense_Mutation_p.E174* NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 133 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity breast(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) GAAGTGTCTTCGGACAGACTG 0.418 5 115 --- --- --- --- PASS ERO1LB 56605 broad.mit.edu 37 1 236388417 236388417 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:236388417C>A uc001hxt.2 - 13 1331 c.1075G>T c.(1075-1077)GAG>TAG p.E359* NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 359 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ATGGATTTCTCATCAAAGTGC 0.398 7 106 --- --- --- --- PASS ACTN2 88 broad.mit.edu 37 1 236925848 236925848 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:236925848C>A uc001hyf.2 + 21 2818 c.2614C>A c.(2614-2616)CCA>ACA p.P872T ACTN2_uc001hyg.2_Missense_Mutation_p.P664T|ACTN2_uc009xgi.1_Missense_Mutation_p.P872T|ACTN2_uc010pxu.1_Missense_Mutation_p.P561T|ACTN2_uc001hyh.2_Missense_Mutation_p.P560T NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 872 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) CTACTCGGGCCCAGGCAGTGT 0.587 5 17 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240497236 240497236 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:240497236A>G uc010pyd.1 + 12 4859 c.4634A>G c.(4633-4635)AAT>AGT p.N1545S FMN2_uc010pye.1_Missense_Mutation_p.N1549S|FMN2_uc010pyf.1_Missense_Mutation_p.N191S|FMN2_uc010pyg.1_Missense_Mutation_p.N141S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1545 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TATCTCCGAAATTTTGATGAG 0.289 7 72 --- --- --- --- PASS AKT3 10000 broad.mit.edu 37 1 243708878 243708878 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:243708878A>C uc001iab.1 - 11 1266 c.1185T>G c.(1183-1185)GAT>GAG p.D395E AKT3_uc001hzz.1_Missense_Mutation_p.D395E NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 395 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTTCTTTTGCATCATCTGGTC 0.299 23 96 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875492 247875492 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:247875492C>A uc001idj.1 - 1 566 c.566G>T c.(565-567)TGC>TTC p.C189F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-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) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGTGTTGGTGCAGGCCAGGGC 0.532 6 40 --- --- --- --- PASS OR14A16 284532 broad.mit.edu 37 1 247978481 247978481 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:247978481G>A uc001idm.1 - 1 551 c.551C>T c.(550-552)GCT>GTT p.A184V NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCAAGAAATAGCTAATAACTG 0.393 7 29 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248039501 248039501 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr1:248039501G>T uc001ido.2 + 6 1219 c.1171G>T c.(1171-1173)GAG>TAG p.E391* OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 391 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GAAAGGGAATGAGTACATGGT 0.527 7 84 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1667512 1667512 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:1667512G>T uc002qxa.2 - 12 1496 c.1432C>A c.(1432-1434)CGG>AGG p.R478R PXDN_uc002qxb.1_Silent_p.R478R NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 478 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACCAGGTGCCGCCGGTCCACG 0.602 12 46 --- --- --- --- PASS RNASEH1 246243 broad.mit.edu 37 2 3599829 3599829 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:3599829C>G uc002qxt.2 - 3 404 c.314G>C c.(313-315)GGA>GCA p.G105A RNASEH1_uc002qxs.2_5'UTR NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 105 RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) ATGTCCATCTCCATCCAGTGG 0.542 13 62 --- --- --- --- PASS ASAP2 8853 broad.mit.edu 37 2 9514948 9514948 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:9514948G>C uc002qzh.2 + 17 1961 c.1621G>C c.(1621-1623)GCG>CCG p.A541P ASAP2_uc002qzi.2_Missense_Mutation_p.A541P NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 541 Arf-GAP. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 GAAGAAGCACGCGGATAACGC 0.468 11 46 --- --- --- --- PASS CPSF3 51692 broad.mit.edu 37 2 9576404 9576404 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:9576404C>A uc002qzo.1 + 7 709 c.674C>A c.(673-675)ACT>AAT p.T225N CPSF3_uc010ewx.1_Missense_Mutation_p.T225N|CPSF3_uc002qzp.1_Missense_Mutation_p.T188N NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 225 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TTCTGTAACACTGTCCACGAT 0.438 5 89 --- --- --- --- PASS NBAS 51594 broad.mit.edu 37 2 15378737 15378737 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:15378737C>A uc002rcc.1 - 45 5824 c.5798G>T c.(5797-5799)AGG>ATG p.R1933M NBAS_uc002rcb.1_Translation_Start_Site|NBAS_uc010exl.1_Missense_Mutation_p.R1005M|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1933 ovary(2)|liver(1)|skin(1) 4 GTTTCTTTTCCTTGGCTTCTC 0.383 6 68 --- --- --- --- PASS UBXN2A 165324 broad.mit.edu 37 2 24194180 24194180 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:24194180G>T uc010exy.2 + 4 544 c.76G>T c.(76-78)GGT>TGT p.G26C UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.G26C|UBXN2A_uc010ykj.1_Missense_Mutation_p.G26C NM_181713 NP_859064 P68543 UBX2A_HUMAN UBX domain containing 4 26 0 TCAACCTCTTGGTAATAATCA 0.328 9 173 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25497891 25497891 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:25497891C>A uc002rgc.2 - 6 815 c.558G>T c.(556-558)CCG>CCT p.P186P DNMT3A_uc002rgd.2_Silent_p.P186P|DNMT3A_uc010eyi.2_RNA NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 186 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTGAGCCTCGGCATGGGCC 0.667 Mis|F|N|S AML 4 7 --- --- --- --- PASS DTNB 1838 broad.mit.edu 37 2 25875473 25875473 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:25875473G>T uc002rgh.2 - 2 307 c.57C>A c.(55-57)TTC>TTA p.F19L DTNB_uc010yko.1_5'Flank|DTNB_uc010ykp.1_5'UTR|DTNB_uc002rgo.2_5'UTR|DTNB_uc002rgi.2_Missense_Mutation_p.F19L|DTNB_uc002rgj.2_Missense_Mutation_p.F19L|DTNB_uc002rgk.2_Missense_Mutation_p.F19L|DTNB_uc002rgl.2_Missense_Mutation_p.F19L|DTNB_uc002rgq.2_Missense_Mutation_p.F19L|DTNB_uc002rgm.2_Missense_Mutation_p.F19L|DTNB_uc002rgn.2_5'UTR|DTNB_uc002rgr.1_Missense_Mutation_p.F8L|DTNB_uc010ykq.1_5'UTR NM_021907 NP_068707 O60941 DTNB_HUMAN dystrobrevin, beta isoform 1 19 cytoplasm calcium ion binding|zinc ion binding large_intestine(2)|ovary(2) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATTTCTATGAACAGCTGCC 0.383 8 191 --- --- --- --- PASS C2orf70 339778 broad.mit.edu 37 2 26802211 26802211 + Nonsense_Mutation SNP G T T rs147381361 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:26802211G>T uc010eyn.2 + 4 511 c.511G>T c.(511-513)GAG>TAG p.E171* NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 171 skin(1) 1 ACTAGCCCCCGAGAACCTGAA 0.532 5 41 --- --- --- --- PASS MAPRE3 22924 broad.mit.edu 37 2 27245131 27245131 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:27245131G>T uc002rhw.2 + 2 198 c.45G>T c.(43-45)CTG>CTT p.L15L MAPRE3_uc002rhx.2_Silent_p.L15L|MAPRE3_uc010yld.1_Silent_p.L15L NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN microtubule-associated protein, RP/EB family, 15 CH. cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAAATCTGAGTCGCCATG 0.502 7 96 --- --- --- --- PASS CCDC121 79635 broad.mit.edu 37 2 27849963 27849963 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:27849963C>A uc002rle.2 - 2 885 c.704G>T c.(703-705)TGG>TTG p.W235L ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.W399L|CCDC121_uc002rld.2_Missense_Mutation_p.W397L|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank NM_024584 NP_078860 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 isoform 3 235 Potential. 0 Acute lymphoblastic leukemia(172;0.155) CTCCAGATACCACTGTTCCTG 0.478 5 50 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37310555 37310555 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:37310555C>A uc002rpp.1 - 2 99 c.3G>T c.(1-3)ATG>ATT p.M1I CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GGGCTAACTCCATTACGGAAG 0.318 6 74 --- --- --- --- PASS ATL2 64225 broad.mit.edu 37 2 38546127 38546127 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:38546127G>T uc002rqq.2 - 3 428 c.398C>A c.(397-399)CCA>CAA p.P133Q ATL2_uc010ynm.1_Missense_Mutation_p.P115Q|ATL2_uc010ynn.1_Missense_Mutation_p.P115Q|ATL2_uc010yno.1_5'UTR|ATL2_uc002rqs.2_Missense_Mutation_p.P133Q|ATL2_uc002rqr.2_5'UTR NM_001135673 NP_001129145 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 isoform 2 133 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding ovary(1)|kidney(1)|skin(1) 3 GCCTGTCAATGGTTCATTGTT 0.348 10 299 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61528293 61528293 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:61528293C>A uc002sbe.2 - 29 3943 c.3921G>T c.(3919-3921)ATG>ATT p.M1307I NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1307 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) ATACAAATACCATCTATAAAA 0.368 7 92 --- --- --- --- PASS PCYOX1 51449 broad.mit.edu 37 2 70486552 70486552 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:70486552G>T uc002sgn.3 + 2 239 c.173G>T c.(172-174)GGG>GTG p.G58V PCYOX1_uc010fdo.2_5'UTR|PCYOX1_uc010yqu.1_Missense_Mutation_p.G58V NM_016297 NP_057381 Q9UHG3 PCYOX_HUMAN prenylcysteine oxidase 1 precursor 58 prenylated protein catabolic process lysosome|very-low-density lipoprotein particle prenylcysteine oxidase activity central_nervous_system(1) 1 CAGAAATTTGGGAAAGATGTG 0.483 10 231 --- --- --- --- PASS MPHOSPH10 10199 broad.mit.edu 37 2 71361836 71361836 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:71361836C>A uc002sht.1 + 4 1359 c.1007C>A c.(1006-1008)CCA>CAA p.P336Q MPHOSPH10_uc010feb.1_Missense_Mutation_p.P336Q NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 336 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 TTTGCTTTACCAGATGATGCG 0.323 8 204 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73680088 73680088 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:73680088G>T uc002sje.1 + 10 6548 c.6437G>T c.(6436-6438)CGA>CTA p.R2146L ALMS1_uc002sjf.1_Missense_Mutation_p.R2102L|ALMS1_uc002sjg.2_Missense_Mutation_p.R1532L|ALMS1_uc002sjh.1_Missense_Mutation_p.R1532L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2144 34 X 47 AA approximate tandem repeat.|33. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTTCACATCGAGAGAAACCA 0.403 5 48 --- --- --- --- PASS TPRKB 51002 broad.mit.edu 37 2 73961573 73961573 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:73961573G>T uc002sjn.2 - 2 235 c.124C>A c.(124-126)CTG>ATG p.L42M TPRKB_uc002sjm.2_Missense_Mutation_p.L42M|TPRKB_uc002sjl.2_Intron|TPRKB_uc002sjo.2_Missense_Mutation_p.L42M|TPRKB_uc010yrm.1_Intron NM_016058 NP_057142 Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 42 protein catabolic process cytosol|nucleus protein kinase binding ovary(1)|skin(1) 2 GGATTTATCAGTGATCCATCG 0.289 6 89 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74906814 74906814 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:74906814G>T uc002sna.1 + 14 1902 c.1791G>T c.(1789-1791)GTG>GTT p.V597V SEMA4F_uc010ffr.1_Silent_p.V209V|SEMA4F_uc002snb.1_Silent_p.V209V|SEMA4F_uc002snc.1_Silent_p.V442V NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 597 Ig-like C2-type.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CATCCTGTGTGTGGCACCAGC 0.592 6 74 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746397 77746397 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:77746397C>A uc002snr.2 - 3 1013 c.598G>T c.(598-600)GCA>TCA p.A200S LRRTM4_uc002snq.2_Missense_Mutation_p.A200S|LRRTM4_uc002sns.2_Missense_Mutation_p.A200S|LRRTM4_uc002snt.2_Missense_Mutation_p.A201S NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 200 Extracellular (Potential).|LRR 6. integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) CCAGCAAATGCATTTCGGGAC 0.438 5 63 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79254970 79254970 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:79254970G>T uc002snw.2 + 5 456 c.371G>T c.(370-372)AGC>ATC p.S124I REG3G_uc002snx.2_Missense_Mutation_p.S124I|REG3G_uc010ffu.2_Missense_Mutation_p.S78I NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 124 C-type lectin. acute-phase response extracellular region sugar binding 0 GAGTGGAGTAGCACTGATGTG 0.507 15 88 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80085138 80085138 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:80085138G>T uc010ysh.1 + 3 304 c.299_splice c.e3-1 p.G100_splice CTNNA2_uc010yse.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysf.1_Splice_Site_p.G100_splice|CTNNA2_uc010ysg.1_Splice_Site_p.G100_splice NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CTGTCTTCCAGGTGAGACGAT 0.542 13 62 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80096961 80096961 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:80096961C>A uc010ysh.1 + 4 490 c.485C>A c.(484-486)GCT>GAT p.A162D CTNNA2_uc010yse.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A162D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A162D NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 162 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GCCCTGGAAGCTGTCAAAAAT 0.373 17 75 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84784929 84784929 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:84784929C>A uc010fgb.2 + 11 1810 c.1673C>A c.(1672-1674)TCG>TAG p.S558* DNAH6_uc002soo.2_Nonsense_Mutation_p.S137*|DNAH6_uc002sop.2_Nonsense_Mutation_p.S137* NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 558 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 GTGCCTGATTCGTATTTTGAT 0.378 6 141 --- --- --- --- PASS DNAH6 1768 broad.mit.edu 37 2 84784986 84784986 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:84784986G>T uc010fgb.2 + 11 1867 c.1730G>T c.(1729-1731)TGT>TTT p.C577F DNAH6_uc002soo.2_Missense_Mutation_p.C156F|DNAH6_uc002sop.2_Missense_Mutation_p.C156F NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN dynein, axonemal, heavy polypeptide 6 577 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity central_nervous_system(1) 1 GGAAAAACCTGTGGAACTGGG 0.353 6 91 --- --- --- --- PASS CAPG 822 broad.mit.edu 37 2 85628769 85628769 + Silent SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:85628769G>C uc002spl.1 - 4 484 c.234C>G c.(232-234)GCC>GCG p.A78A CAPG_uc002spm.1_Silent_p.A78A|CAPG_uc010ysq.1_Silent_p.A78A|CAPG_uc010fgi.1_Silent_p.A78A|CAPG_uc010fgj.1_5'UTR NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 78 barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 CAGCCAGCACGGCACAGGCCC 0.652 4 20 --- --- --- --- PASS VPS24 51652 broad.mit.edu 37 2 86756432 86756432 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:86756432C>A uc002srj.2 - 3 324 c.195G>T c.(193-195)AAG>AAT p.K65N VPS24_uc002srk.2_Translation_Start_Site|VPS24_uc002srl.2_Missense_Mutation_p.K65N|VPS24_uc010ytl.1_Missense_Mutation_p.K94N NM_016079 NP_057163 Q9Y3E7 CHMP3_HUMAN vacuolar protein sorting 24 isoform 1 65 Intramolecular interaction with C- terminus. cell cycle|cell division|cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1) 1 TGATCATCTCCTTGGCCAGAA 0.458 7 118 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90199179 90199179 + RNA SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:90199179A>G uc010fhm.2 + 24 c.3310A>G Parts of antibodies, mostly variable regions. TCAACAGGCTAACAGTTTCCC 0.527 18 60 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100029392 100029392 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:100029392G>A uc002tad.2 - 13 2185 c.1973C>T c.(1972-1974)TCT>TTT p.S658F REV1_uc002tac.2_Missense_Mutation_p.S657F NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 658 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 TGCCAACTTAGATTCCATTGA 0.353 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 14 61 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120703926 120703926 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:120703926G>T uc002tmf.1 + 17 2296 c.1525G>T c.(1525-1527)GGT>TGT p.G509C PTPN4_uc010flj.1_Missense_Mutation_p.G222C|PTPN4_uc010yyr.1_Missense_Mutation_p.G142C NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 509 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) GCCTAATGGTGGTATTCCACA 0.279 8 150 --- --- --- --- PASS EPB41L5 57669 broad.mit.edu 37 2 120918470 120918470 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:120918470G>T uc002tmg.2 + 21 1933 c.1807G>T c.(1807-1809)GAG>TAG p.E603* EPB41L5_uc010fll.2_Nonsense_Mutation_p.E603*|EPB41L5_uc010flm.2_Nonsense_Mutation_p.E407* NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 603 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 TGTGTTAAATGAGAATAATGT 0.413 9 148 --- --- --- --- PASS UGGT1 56886 broad.mit.edu 37 2 128878864 128878864 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:128878864C>A uc002tps.2 + 10 1243 c.1065C>A c.(1063-1065)ACC>ACA p.T355T UGGT1_uc010fme.1_Silent_p.T230T|UGGT1_uc002tpr.2_Silent_p.T331T NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 355 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 ATTTTCCTACCAAAGCCAGGT 0.403 7 52 --- --- --- --- PASS HNMT 3176 broad.mit.edu 37 2 138722134 138722134 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:138722134C>A uc002tvc.2 + 2 221 c.73C>A c.(73-75)CAT>AAT p.H25N HNMT_uc002tvd.2_Missense_Mutation_p.H25N|HNMT_uc002tve.2_Missense_Mutation_p.H25N|HNMT_uc002tvf.2_Missense_Mutation_p.H25N NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 25 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) GTTTCTCAACCATTCCACGGA 0.458 7 133 --- --- --- --- PASS HNMT 3176 broad.mit.edu 37 2 138762707 138762707 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:138762707G>T uc002tvc.2 + 6 583 c.435G>T c.(433-435)CTG>CTT p.L145L HNMT_uc002tvf.2_Silent_p.L145L NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 145 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TCTAGATGCTGTATTATGTAA 0.363 7 109 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141665446 141665446 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:141665446C>A uc002tvj.1 - 22 4492 c.3520G>T c.(3520-3522)GAT>TAT p.D1174Y LRP1B_uc010fnl.1_Missense_Mutation_p.D356Y NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1174 Extracellular (Potential).|LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATGCAATACCACAGAGATAG 0.403 TSP Lung(27;0.18) 8 144 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144903215 144903215 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:144903215C>A uc002tvp.2 - 5 550 c.271G>T c.(271-273)GAG>TAG p.E91* GTDC1_uc002tvo.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvq.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvr.2_Nonsense_Mutation_p.E91*|GTDC1_uc010fnn.2_Nonsense_Mutation_p.E91*|GTDC1_uc002tvs.2_Nonsense_Mutation_p.E59*|GTDC1_uc010fno.2_5'UTR|GTDC1_uc002tvt.1_Nonsense_Mutation_p.E91* NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 91 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) AACTGGTTCTCGTGAAAATAC 0.418 5 61 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152543961 152543961 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:152543961G>A uc010fnx.2 - 27 2800 c.2609C>T c.(2608-2610)TCC>TTC p.S870F NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 870 Nebulin 20. 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) TGTCTTCAAGGAGTGCAGCAT 0.438 11 132 --- --- --- --- PASS PRPF40A 55660 broad.mit.edu 37 2 153532918 153532918 + Splice_Site SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:153532918C>G uc002tyi.2 - 10 1125 c.1112_splice c.e10+1 p.D371_splice PRPF40A_uc002tyh.3_Splice_Site_p.D344_splice|PRPF40A_uc010zcd.1_Splice_Site_p.D291_splice|PRPF40A_uc002tyj.2_Splice_Site_p.D240_splice NM_017892 NP_060362 O75400 PR40A_HUMAN formin binding protein 3 mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding 0 ACTAAACTTACTCAGCTACAG 0.333 3 9 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 154801051 154801051 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:154801051C>A uc002tyr.3 + 3 608 c.41C>A c.(40-42)TCG>TAG p.S14* GALNT13_uc002tyt.3_Nonsense_Mutation_p.S14* NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 14 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CTAGCCACTTCGCTGATGTGG 0.418 6 112 --- --- --- --- PASS FAP 2191 broad.mit.edu 37 2 163070542 163070542 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:163070542C>A uc002ucd.2 - 11 1116 c.908G>T c.(907-909)CGA>CTA p.R303L FAP_uc010zct.1_Missense_Mutation_p.R278L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.R270L NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 303 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 CAAACATACTCGTTCATCAGT 0.408 5 74 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164591413 164591413 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:164591413C>A uc002uck.1 - 2 336 c.25G>T c.(25-27)GGC>TGC p.G9C NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 9 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 ACTGACATACCATAAACACTG 0.388 6 75 --- --- --- --- PASS GRB14 2888 broad.mit.edu 37 2 165353980 165353980 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:165353980G>T uc002ucl.2 - 10 1666 c.1125C>A c.(1123-1125)TCC>TCA p.S375S GRB14_uc010zcv.1_Silent_p.S288S|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 375 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 TTGCTACCAGGGAATTCTCTG 0.368 7 94 --- --- --- --- PASS COBLL1 22837 broad.mit.edu 37 2 165551734 165551734 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:165551734C>A uc010zcw.1 - 15 2607 c.2483G>T c.(2482-2484)CGA>CTA p.R828L COBLL1_uc002ucp.2_Missense_Mutation_p.R761L|COBLL1_uc002ucq.2_Missense_Mutation_p.R723L|COBLL1_uc010zcx.1_Missense_Mutation_p.R769L|COBLL1_uc002ucn.2_Missense_Mutation_p.R189L|COBLL1_uc002uco.2_Missense_Mutation_p.R492L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 799 ovary(2)|pancreas(1) 3 TATATACTCTCGTGTAATTTC 0.358 6 147 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166866246 166866246 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:166866246G>T uc010zcz.1 - 20 3970 c.3952C>A c.(3952-3954)CGA>AGA p.R1318R SCN1A_uc002udo.3_Silent_p.R1198R|SCN1A_uc010fpk.2_Silent_p.R1170R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1329 Helical; Voltage-sensor; Name=S4 of repeat III; (By similarity).|III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCTTCAAATCGAGATAAGGCT 0.358 5 68 --- --- --- --- PASS G6PC2 57818 broad.mit.edu 37 2 169764369 169764369 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:169764369G>T uc002uem.2 + 5 940 c.848G>T c.(847-849)CGA>CTA p.R283L G6PC2_uc002uen.2_3'UTR|G6PC2_uc010fpv.2_Missense_Mutation_p.R167L NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 283 Cytoplasmic (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 CTGAGCTGCCGAGGGGGAAAT 0.517 5 50 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170007453 170007453 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:170007453G>A uc002ues.2 - 68 12758 c.12545C>T c.(12544-12546)ACT>ATT p.T4182I NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4182 Extracellular (Potential).|LDL-receptor class B 35. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTCCAGGTCAGTGGAAATCAG 0.433 15 75 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170070377 170070377 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:170070377C>A uc002ues.2 - 36 6043 c.5830G>T c.(5830-5832)GAA>TAA p.E1944* NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1944 LDL-receptor class B 18.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTTCCTCTTTCAATCTAAAGG 0.328 5 31 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171509574 171509574 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:171509574A>T uc002ufy.2 + 35 4112 c.3969A>T c.(3967-3969)TCA>TCT p.S1323S MYO3B_uc002ufz.2_Silent_p.S1296S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA|uc002ugc.1_Intron NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 1323 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 AGAACAACTCAGCCCACCCTT 0.408 12 69 --- --- --- --- PASS HOXD10 3236 broad.mit.edu 37 2 176981715 176981715 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:176981715G>T uc002ukj.2 + 1 224 c.154G>T c.(154-156)GGA>TGA p.G52* NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 52 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GCAAACCTGTGGACTGCTCCC 0.493 6 70 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179259110 179259110 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179259110C>A uc002ulx.2 + 24 3022 c.2644C>A c.(2644-2646)CGG>AGG p.R882R OSBPL6_uc002uly.2_Silent_p.R907R|OSBPL6_uc010zfe.1_Silent_p.R851R|OSBPL6_uc002ulz.2_Silent_p.R846R|OSBPL6_uc002uma.2_Silent_p.R886R NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 882 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCAGAGATCTCGGAGACGATA 0.353 6 139 --- --- --- --- PASS PRKRA 8575 broad.mit.edu 37 2 179315083 179315083 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179315083C>A uc002umf.2 - 2 322 c.121G>T c.(121-123)GAA>TAA p.E41* PRKRA_uc002umd.2_Nonsense_Mutation_p.E16*|PRKRA_uc002ume.2_Nonsense_Mutation_p.E30*|PRKRA_uc002umg.2_5'UTR|DFNB59_uc002umi.3_5'Flank NM_003690 NP_003681 O75569 PRKRA_HUMAN protein kinase, interferon-inducible double 41 Sufficient for self-association and interaction with TARBP2.|DRBM 1. immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus perinuclear region of cytoplasm double-stranded RNA binding|enzyme activator activity|protein homodimerization activity central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265) ATGCCGTATTCGTGTAATACC 0.433 8 207 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179400362 179400362 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179400362C>A uc010zfg.1 - 307 93500 c.93276G>T c.(93274-93276)GAG>GAT p.E31092D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24787D|TTN_uc010zfi.1_Missense_Mutation_p.E24720D|TTN_uc010zfj.1_Missense_Mutation_p.E24595D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32019 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) CATCTTTTCTCTCTACCCCAT 0.433 10 141 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179432907 179432907 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179432907A>T uc010zfg.1 - 275 70472 c.70248T>A c.(70246-70248)GCT>GCA p.A23416A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A17111A|TTN_uc010zfi.1_Silent_p.A17044A|TTN_uc010zfj.1_Silent_p.A16919A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24343 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) AGGGATATTGAGCTACAATTG 0.423 33 129 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179458825 179458825 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179458825C>A uc010zfg.1 - 246 50815 c.50591G>T c.(50590-50592)CGC>CTC p.R16864L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R10559L|TTN_uc010zfi.1_Missense_Mutation_p.R10492L|TTN_uc010zfj.1_Missense_Mutation_p.R10367L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17791 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) TATATGAGTGCGATCATCTTC 0.463 5 89 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179463947 179463947 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179463947C>A uc010zfg.1 - 239 49093 c.48869G>T c.(48868-48870)CGA>CTA p.R16290L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R9985L|TTN_uc010zfi.1_Missense_Mutation_p.R9918L|TTN_uc010zfj.1_Missense_Mutation_p.R9793L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17217 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) GGCCATGATTCGGAATACATA 0.433 7 225 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179468687 179468687 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179468687G>T uc010zfg.1 - 231 47247 c.47023C>A c.(47023-47025)CAG>AAG p.Q15675K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q9370K|TTN_uc010zfi.1_Missense_Mutation_p.Q9303K|TTN_uc010zfj.1_Missense_Mutation_p.Q9178K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16602 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) GCTCTGAACTGGTATTTAACG 0.458 8 133 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179484438 179484438 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179484438G>T uc010zfg.1 - 199 39126 c.38902C>A c.(38902-38904)CTA>ATA p.L12968I TTN_uc010zfh.1_Missense_Mutation_p.L6663I|TTN_uc010zfi.1_Missense_Mutation_p.L6596I|TTN_uc010zfj.1_Missense_Mutation_p.L6471I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13895 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) CAAATCTGTAGTCGATGTATC 0.423 7 149 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179545846 179545846 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:179545846G>T uc010zfg.1 - 135 29792 c.29568C>A c.(29566-29568)ACC>ACA p.T9856T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T6517T|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10783 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) TTTCACGTTTGGTAATTGAAA 0.328 6 69 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185801162 185801162 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:185801162C>G uc002uph.2 + 4 1633 c.1039C>G c.(1039-1041)CCT>GCT p.P347A NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 347 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TGAAGACATACCTGTTAGTGG 0.353 16 38 --- --- --- --- PASS TFPI 7035 broad.mit.edu 37 2 188361711 188361711 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:188361711G>A uc002upx.2 - 3 249 c.216C>T c.(214-216)TTC>TTT p.F72F TFPI_uc002upy.2_Silent_p.F72F|TFPI_uc002upz.2_Silent_p.F68F|TFPI_uc002uqa.2_Silent_p.F72F|TFPI_uc002uqb.2_Silent_p.F72F NM_006287 NP_006278 P10646 TFPI1_HUMAN tissue factor pathway inhibitor isoform a 72 BPTI/Kunitz inhibitor 1. blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) TGAAAATATTGAAGAAAAATC 0.368 6 56 --- --- --- --- PASS STAT1 6772 broad.mit.edu 37 2 191849039 191849039 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:191849039G>T uc002usj.2 - 16 1732 c.1344C>A c.(1342-1344)CTC>CTA p.L448L STAT1_uc010fse.1_Silent_p.L448L|STAT1_uc002usk.2_Silent_p.L448L|STAT1_uc002usl.2_Silent_p.L450L|STAT1_uc010fsf.1_Silent_p.L260L NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 448 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GTCTTACCTCGAGGTCAATTA 0.378 5 134 --- --- --- --- PASS STAT4 6775 broad.mit.edu 37 2 191934480 191934480 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:191934480G>T uc002usm.1 - 6 737 c.483C>A c.(481-483)ACC>ACA p.T161T STAT4_uc002usn.1_Silent_p.T161T|STAT4_uc010zgk.1_Silent_p.T6T|STAT4_uc002uso.2_Silent_p.T161T NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 161 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CTAAGTATTTGGTATCTTGTT 0.299 7 102 --- --- --- --- PASS MYO1B 4430 broad.mit.edu 37 2 192228559 192228559 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:192228559C>A uc010fsg.2 + 10 1126 c.871C>A c.(871-873)CGA>AGA p.R291R MYO1B_uc002usq.2_Silent_p.R291R|MYO1B_uc002usr.2_Silent_p.R291R|MYO1B_uc002uss.1_Silent_p.R291R NM_001130158 NP_001123630 O43795 MYO1B_HUMAN myosin IB isoform 1 291 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(5)|large_intestine(2)|ovary(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GCCCGAATCTCGAGTGAATGG 0.438 5 91 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196822072 196822072 + Silent SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:196822072T>A uc002utj.3 - 19 3092 c.2991A>T c.(2989-2991)CCA>CCT p.P997P NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 997 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ACATAATGTCTGGAGAGCTGA 0.468 13 47 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197085593 197085593 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:197085593C>A uc002utm.1 - 25 4402 c.4219G>T c.(4219-4221)GAG>TAG p.E1407* HECW2_uc002utl.1_Nonsense_Mutation_p.E1051* NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 1407 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 ACCATCCTCTCGATGTACTCC 0.438 5 125 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950016 198950016 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:198950016G>T uc010fsp.2 + 2 2066 c.1775G>T c.(1774-1776)TGT>TTT p.C592F PLCL1_uc002uuv.3_Missense_Mutation_p.C513F NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 592 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GTGTCTATTTGTAAATCTGTT 0.403 13 48 --- --- --- --- PASS ALS2CR11 151254 broad.mit.edu 37 2 202352462 202352462 + Missense_Mutation SNP C A A rs74717115 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:202352462C>A uc002uye.2 - 15 1793 c.1745G>T c.(1744-1746)CGA>CTA p.R582L ALS2CR11_uc002uyf.2_Missense_Mutation_p.R1779L|ALS2CR11_uc010fti.2_3'UTR NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 582 large_intestine(1)|ovary(1)|skin(1) 3 GTAGCTTTCTCGTTGCTTGTT 0.383 8 260 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202593846 202593846 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:202593846G>T uc002uyo.2 - 14 2997 c.2641C>A c.(2641-2643)CAT>AAT p.H881N ALS2_uc002uyp.3_Missense_Mutation_p.H881N|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 881 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 CTGCCGAGATGGAGAGCAAGA 0.433 6 84 --- --- --- --- PASS CREB1 1385 broad.mit.edu 37 2 208440037 208440037 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:208440037G>T uc002vcc.2 + 7 840 c.589G>T c.(589-591)GGT>TGT p.G197C CREB1_uc010ziz.1_Missense_Mutation_p.G181C|CREB1_uc002vcd.2_Missense_Mutation_p.G183C|CREB1_uc010zja.1_RNA NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 197 activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) GGCTAACAATGGTACCGATGG 0.438 T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma 6 88 --- --- --- --- PASS PLEKHM3 389072 broad.mit.edu 37 2 208725977 208725977 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:208725977C>A uc002vcl.2 - 7 2450 c.1960G>T c.(1960-1962)GGA>TGA p.G654* NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 654 intracellular signal transduction metal ion binding ovary(1) 1 GCCAGCTTTCCCTCTATTACC 0.443 6 69 --- --- --- --- PASS USP37 57695 broad.mit.edu 37 2 219394731 219394731 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:219394731C>A uc002vie.2 - 10 1264 c.811G>T c.(811-813)GGT>TGT p.G271C USP37_uc010fvs.1_Missense_Mutation_p.G271C|USP37_uc010zkf.1_Missense_Mutation_p.G271C|USP37_uc002vif.2_Missense_Mutation_p.G271C|USP37_uc002vig.2_Missense_Mutation_p.G199C|USP37_uc010zkg.1_Missense_Mutation_p.G271C NM_020935 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 271 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(3)|ovary(1)|prostate(1) 5 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GCTCTGCTACCATAAAAGGAT 0.328 6 79 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219870856 219870856 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:219870856G>C uc002vjl.1 - 31 4893 c.4809C>G c.(4807-4809)TGC>TGG p.C1603W NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1603 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTGGCTGGGGGCAGGGCCAGG 0.617 5 32 --- --- --- --- PASS STK11IP 114790 broad.mit.edu 37 2 220478475 220478475 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:220478475G>T uc002vml.2 + 21 2615 c.2572G>T c.(2572-2574)GAG>TAG p.E858* NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 858 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTCCACAGTGAGCCTCCAGC 0.622 6 49 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225422495 225422495 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:225422495T>C uc002vny.2 - 2 529 c.145A>G c.(145-147)AAC>GAC p.N49D CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.N55D NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 49 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) AGACCACTGTTATTCTTACGC 0.358 6 52 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226273726 226273726 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:226273726C>A uc002voe.2 + 2 305 c.130C>A c.(130-132)CGA>AGA p.R44R KIAA1486_uc010fxa.1_Silent_p.R39R NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 44 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) AGATATTGCTCGAGAGAATGA 0.408 5 50 --- --- --- --- PASS COL4A3 1285 broad.mit.edu 37 2 228118298 228118298 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:228118298C>A uc002vom.1 + 13 871 c.709C>A c.(709-711)CCC>ACC p.P237T COL4A3_uc002von.1_Missense_Mutation_p.P237T|COL4A3_uc002voo.1_Missense_Mutation_p.P237T|COL4A3_uc002vop.1_Missense_Mutation_p.P237T|uc002voq.1_Intron|uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 237 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GTTAACAGGACCCCCGGGACC 0.438 33 111 --- --- --- --- PASS PSMD1 5707 broad.mit.edu 37 2 231943383 231943383 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:231943383G>C uc002vrn.1 + 10 1213 c.1082G>C c.(1081-1083)CGG>CCG p.R361P PSMD1_uc002vrm.1_Missense_Mutation_p.R361P|PSMD1_uc010fxu.1_Missense_Mutation_p.R225P NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 361 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GATGCAGTACGGAATTCTGTA 0.398 3 53 --- --- --- --- PASS SH3BP4 23677 broad.mit.edu 37 2 235950626 235950626 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:235950626C>A uc002vvp.2 + 4 1606 c.1213C>A c.(1213-1215)CTT>ATT p.L405I SH3BP4_uc010fym.2_Missense_Mutation_p.L405I|SH3BP4_uc002vvq.2_Missense_Mutation_p.L405I NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 405 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding skin(3)|ovary(1) 4 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AAAAAATGACCTTTTTAGCAA 0.537 5 29 --- --- --- --- PASS MLPH 79083 broad.mit.edu 37 2 238402140 238402140 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr2:238402140G>T uc002vwt.2 + 2 298 c.71G>T c.(70-72)CGA>CTA p.R24L MLPH_uc002vws.2_Missense_Mutation_p.R24L|MLPH_uc010fyt.1_Missense_Mutation_p.R24L|MLPH_uc002vwu.2_Missense_Mutation_p.R24L|MLPH_uc002vwv.2_Missense_Mutation_p.R24L NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 24 RabBD. R->A: Decreases RAB27A binding. metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) GTTGTTCAACGAGATTTTGAC 0.547 6 95 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 447294 447294 + Missense_Mutation SNP G A A rs141163165 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:447294G>A uc003bou.2 + 27 3798 c.3527G>A c.(3526-3528)AGT>AAT p.S1176N CHL1_uc003bot.2_Missense_Mutation_p.S1192N|CHL1_uc011asi.1_Missense_Mutation_p.S1139N NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1176 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GGTCTCTTCAGTGAAGATGGA 0.473 16 34 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7188172 7188172 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:7188172G>T uc003bqm.2 + 2 827 c.553G>T c.(553-555)GAG>TAG p.E185* GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Nonsense_Mutation_p.E185*|GRM7_uc003bql.2_Nonsense_Mutation_p.E185* NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 185 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AACGGCACCCGAGCTAAGTGA 0.512 6 70 --- --- --- --- PASS RPUSD3 285367 broad.mit.edu 37 3 9882216 9882216 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:9882216G>T uc011atk.1 - 6 604 c.600C>A c.(598-600)CTC>CTA p.L200L ARPC4_uc003btc.1_Intron|RPUSD3_uc011atl.1_Silent_p.L185L|RPUSD3_uc011atm.1_Silent_p.L192L|RPUSD3_uc003btn.2_3'UTR NM_173659 NP_775930 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 200 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(1) 1 Medulloblastoma(99;0.227) CCGGACTCACGAGATTGACCC 0.562 5 107 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11389435 11389435 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:11389435G>T uc003bwc.2 + 12 1327 c.1210G>T c.(1210-1212)GAA>TAA p.E404* ATG7_uc003bwd.2_Nonsense_Mutation_p.E404*|ATG7_uc011aum.1_Nonsense_Mutation_p.E365* NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 404 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 CTATGAGTTTGAAGATTGCCT 0.522 17 56 --- --- --- --- PASS XPC 7508 broad.mit.edu 37 3 14211999 14211999 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:14211999G>T uc011ave.1 - 3 455 c.351C>A c.(349-351)ACC>ACA p.T117T XPC_uc011avf.1_5'UTR|XPC_uc011avg.1_Silent_p.T117T NM_004628 NP_004619 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 117 Glu-rich (acidic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding ovary(2)|breast(1) 3 CTTCATTCATGGTAGCCCCTC 0.428 Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 9 183 --- --- --- --- PASS FGD5 152273 broad.mit.edu 37 3 14974123 14974123 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:14974123A>T uc003bzc.2 + 19 4347 c.4237A>T c.(4237-4239)ACC>TCC p.T1413S FGD5_uc011avk.1_Missense_Mutation_p.T1370S|FGD5_uc003bzd.2_Missense_Mutation_p.T491S NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1413 PH 2. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GCTAGGCTTCACCATTGCTCC 0.428 14 53 --- --- --- --- PASS OXNAD1 92106 broad.mit.edu 37 3 16327883 16327883 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:16327883G>T uc003caw.2 + 5 675 c.218G>T c.(217-219)AGT>ATT p.S73I OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Missense_Mutation_p.S73I|OXNAD1_uc011awb.1_Missense_Mutation_p.S91I NM_138381 NP_612390 Q96HP4 OXND1_HUMAN oxidoreductase NAD-binding domain containing 1 73 FAD-binding FR-type. oxidoreductase activity skin(1) 1 GGAGCTGCCAGTGAGTCACCG 0.478 6 74 --- --- --- --- PASS TBC1D5 9779 broad.mit.edu 37 3 17418096 17418096 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:17418096C>A uc003cbf.2 - 10 2287 c.622G>T c.(622-624)GAA>TAA p.E208* TBC1D5_uc010hev.2_Nonsense_Mutation_p.E208*|TBC1D5_uc003cbe.2_Nonsense_Mutation_p.E208*|TBC1D5_uc010hew.1_Nonsense_Mutation_p.E160* NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 208 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GCTAACAGTTCGTGCATGCCC 0.398 4 44 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18393544 18393544 + Silent SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:18393544C>G uc003cbh.2 - 10 3454 c.1719G>C c.(1717-1719)GCG>GCC p.A573A SATB1_uc003cbi.2_Silent_p.A573A|SATB1_uc003cbj.2_Silent_p.A573A NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 573 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 GGTGATGCACCGCGTTGCTCT 0.493 4 90 --- --- --- --- PASS NGLY1 55768 broad.mit.edu 37 3 25805745 25805745 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:25805745G>T uc003cdl.2 - 3 412 c.304C>A c.(304-306)CGT>AGT p.R102S NGLY1_uc010hfg.2_Missense_Mutation_p.R102S|NGLY1_uc003cdm.2_Missense_Mutation_p.R102S|NGLY1_uc011awo.1_Missense_Mutation_p.R60S|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 102 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 ATCAGGTCACGAATTTTTTGC 0.403 6 183 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36872688 36872688 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:36872688C>A uc003cgj.2 - 12 6906 c.6604G>T c.(6604-6606)GAG>TAG p.E2202* NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2752 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ACTGCCACCTCGGAAGCTGCC 0.557 4 36 --- --- --- --- PASS SCN10A 6336 broad.mit.edu 37 3 38798188 38798188 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:38798188C>A uc003ciq.2 - 9 1267 c.1267G>T c.(1267-1269)GAG>TAG p.E423* NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 423 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CGGAGCATCTCGAGGGCCTCC 0.502 5 86 --- --- --- --- PASS GORASP1 64689 broad.mit.edu 37 3 39141908 39141908 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:39141908G>A uc003ciw.1 - 6 751 c.653C>T c.(652-654)CCA>CTA p.P218L GORASP1_uc003civ.1_RNA|GORASP1_uc003cix.1_RNA|GORASP1_uc003ciy.1_RNA|GORASP1_uc011ayw.1_Missense_Mutation_p.P123L|GORASP1_uc003ciz.1_Missense_Mutation_p.P63L NM_031899 NP_114105 Q9BQQ3 GORS1_HUMAN Golgi reassembly stacking protein 1 218 Pro-rich. mitotic prophase|protein transport cytosol|Golgi apparatus|membrane ovary(2)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AGCAGAAGGTGGTGGGGTGCC 0.612 3 5 --- --- --- --- PASS SACM1L 22908 broad.mit.edu 37 3 45779277 45779277 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:45779277C>A uc003cos.2 + 16 1527 c.1323C>A c.(1321-1323)AAC>AAA p.N441K SACM1L_uc011bag.1_Missense_Mutation_p.N338K|SACM1L_uc011bah.1_Missense_Mutation_p.N375K|SACM1L_uc003cot.2_Missense_Mutation_p.N84K NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 441 SAC. Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) GGGCTGACAACGCAAATGCTT 0.348 5 70 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48614120 48614120 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:48614120G>T uc003ctz.2 - 67 5690 c.5689C>A c.(5689-5691)CCT>ACT p.P1897T NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1897 Triple-helical region. 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) TGGCCAGGAGGGCCCACTGGC 0.617 4 10 --- --- --- --- PASS RNF123 63891 broad.mit.edu 37 3 49758714 49758714 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:49758714G>T uc003cxh.2 + 39 4007 c.3921G>T c.(3919-3921)ACG>ACT p.T1307T RNF123_uc003cxi.2_RNA|AMIGO3_uc003cxj.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 1307 cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GAGCCAATACGAGTACTACCT 0.542 6 131 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52621494 52621494 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:52621494G>C uc003des.2 - 19 3010 c.2998C>G c.(2998-3000)CGA>GGA p.R1000G PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1000G|PBRM1_uc003der.2_Missense_Mutation_p.R968G|PBRM1_uc003det.2_Missense_Mutation_p.R1015G|PBRM1_uc003deu.2_Missense_Mutation_p.R1015G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1000G|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Missense_Mutation_p.R999G|PBRM1_uc003dfb.1_Missense_Mutation_p.R912G|PBRM1_uc003dfa.1_Missense_Mutation_p.R346G NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1000 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATTTGGTCGGTAAAACCAA 0.363 Mis|N|F|S|D|O clear cell renal carcinoma|breast 3 42 --- --- --- --- PASS CHDH 55349 broad.mit.edu 37 3 53854550 53854550 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:53854550C>A uc003dgz.2 - 6 1511 c.1071G>T c.(1069-1071)AAG>AAT p.K357N NM_018397 NP_060867 Q8NE62 CHDH_HUMAN choline dehydrogenase precursor 357 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding ovary(1)|central_nervous_system(1) 2 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TCCGCAGGGGCTTCTGTGCTG 0.552 6 104 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983199 97983199 + Nonsense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:97983199T>A uc003dsi.1 + 1 71 c.71T>A c.(70-72)TTG>TAG p.L24* NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 AATGCAACATTGCTGACAGAG 0.408 22 138 --- --- --- --- PASS DCBLD2 131566 broad.mit.edu 37 3 98538223 98538223 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:98538223C>A uc003dtd.2 - 8 1273 c.910G>T c.(910-912)GCG>TCG p.A304S DCBLD2_uc003dte.2_Missense_Mutation_p.A304S NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 304 Extracellular (Potential).|F5/8 type C. cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane ovary(2)|central_nervous_system(1) 3 TGAGGATCCGCGATCACACCA 0.443 20 80 --- --- --- --- PASS COL8A1 1295 broad.mit.edu 37 3 99514646 99514646 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:99514646A>C uc003dtg.1 + 5 2146 c.1901A>C c.(1900-1902)AAG>ACG p.K634T COL8A1_uc003dth.1_Missense_Mutation_p.K634T|COL8A1_uc003dti.1_Missense_Mutation_p.K635T NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 634 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 GCCCCAGTGAAGTTTAACAAA 0.537 10 30 --- --- --- --- PASS TOMM70A 9868 broad.mit.edu 37 3 100093869 100093869 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:100093869C>A uc003dtw.2 - 7 1652 c.1220G>T c.(1219-1221)CGA>CTA p.R407L NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 407 Cytoplasmic (Potential).|TPR 6. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 TACCTGTCCTCGGTGGTGATA 0.413 5 100 --- --- --- --- PASS TOMM70A 9868 broad.mit.edu 37 3 100093992 100093992 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:100093992C>A uc003dtw.2 - 7 1529 c.1097G>T c.(1096-1098)CGA>CTA p.R366L NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 366 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 AGCATTTGCTCGAAGCTATAT 0.353 6 230 --- --- --- --- PASS TOMM70A 9868 broad.mit.edu 37 3 100105095 100105095 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:100105095C>T uc003dtw.2 - 3 1024 c.592G>A c.(592-594)GAG>AAG p.E198K NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 198 Cytoplasmic (Potential). protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 TCTAGCTTCTCATGGGCTTTT 0.328 33 156 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100471739 100471739 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:100471739C>A uc003dun.2 - 33 2966 c.2881G>T c.(2881-2883)GAG>TAG p.E961* ABI3BP_uc003duj.2_Nonsense_Mutation_p.E541*|ABI3BP_uc003duk.2_Nonsense_Mutation_p.E670*|ABI3BP_uc003dul.2_Nonsense_Mutation_p.E791*|ABI3BP_uc011bhd.1_Nonsense_Mutation_p.E915*|ABI3BP_uc003dum.2_Nonsense_Mutation_p.E372* NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 961 extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 CCCTTACACTCTGAGTAAGAG 0.398 7 93 --- --- --- --- PASS SENP7 57337 broad.mit.edu 37 3 101051624 101051624 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:101051624C>A uc003dut.2 - 18 2674 c.2563G>T c.(2563-2565)GTA>TTA p.V855L SENP7_uc003duu.2_Missense_Mutation_p.V790L|SENP7_uc003duv.2_Missense_Mutation_p.V822L|SENP7_uc003duw.2_Missense_Mutation_p.V789L|SENP7_uc003dux.2_Missense_Mutation_p.V691L|SENP7_uc003dus.2_Missense_Mutation_p.V43L NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 855 Protease. proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 GACTCATTTACAGGTACAAAG 0.274 6 151 --- --- --- --- PASS RG9MTD1 54931 broad.mit.edu 37 3 101283646 101283646 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:101283646G>T uc003duz.2 + 2 169 c.21G>T c.(19-21)ATG>ATT p.M7I NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 7 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 TCCTCAAAATGAGTGTTAGTG 0.328 10 259 --- --- --- --- PASS NFKBIZ 64332 broad.mit.edu 37 3 101576002 101576002 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:101576002G>T uc003dvp.2 + 10 2025 c.1910G>T c.(1909-1911)AGT>ATT p.S637I NFKBIZ_uc003dvo.2_Missense_Mutation_p.S537I|NFKBIZ_uc010hpo.2_Missense_Mutation_p.S537I|NFKBIZ_uc003dvq.2_Missense_Mutation_p.S515I NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 637 Interaction with NFKB1/p50 (By similarity).|ANK 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 GAGCTGCCCAGTTGCCTGTCT 0.483 6 116 --- --- --- --- PASS ALCAM 214 broad.mit.edu 37 3 105250889 105250889 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:105250889C>A uc003dvx.2 + 4 978 c.438C>A c.(436-438)CTC>CTA p.L146L ALCAM_uc003dvw.1_Silent_p.L146L|ALCAM_uc003dvy.2_Silent_p.L146L|ALCAM_uc011bhh.1_Silent_p.L95L|ALCAM_uc010hpp.2_5'Flank NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 146 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 CACTGTTTCTCGAAACAGAGC 0.348 6 251 --- --- --- --- PASS CCDC54 84692 broad.mit.edu 37 3 107097232 107097232 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:107097232C>A uc003dwi.1 + 1 1045 c.798C>A c.(796-798)ACC>ACA p.T266T NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 266 0 TCAGTGCTACCAAGTTAGAAG 0.423 7 118 --- --- --- --- PASS DPPA4 55211 broad.mit.edu 37 3 109049533 109049533 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:109049533C>G uc003dxq.3 - 5 572 c.517G>C c.(517-519)GTG>CTG p.V173L DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.V173L NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 173 nucleus protein binding upper_aerodigestive_tract(1) 1 GGCTCCCCCACAGGAGGAAGA 0.507 12 93 --- --- --- --- PASS TMPRSS7 344805 broad.mit.edu 37 3 111768698 111768698 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:111768698G>T uc010hqb.2 + 6 759 c.589G>T c.(589-591)GAA>TAA p.E197* TMPRSS7_uc011bhr.1_Nonsense_Mutation_p.E52* NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 323 Extracellular (Potential).|CUB 1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 CAGAATTTGTGAACCCACAAG 0.368 7 124 --- --- --- --- PASS SLC9A10 285335 broad.mit.edu 37 3 111927116 111927116 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:111927116C>A uc003dyu.2 - 16 2117 c.1895G>T c.(1894-1896)TGG>TTG p.W632L SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.W584L NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN sperm-specific sodium proton exchanger 632 Helical; (Potential).|Ion transport-like. cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ovary(3)|breast(2) 5 CTGGGATATCCAAGAGATTAT 0.299 11 252 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113595041 113595041 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:113595041C>T uc003eaq.3 + 5 469 c.393C>T c.(391-393)TTC>TTT p.F131F GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 131 GRAM. integral to membrane ovary(2)|skin(1) 3 ATATAACCTTCATGACCAAGG 0.299 26 168 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113623041 113623041 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:113623041C>A uc003eaq.3 + 8 787 c.711C>A c.(709-711)TCC>TCA p.S237S GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_Intron|GRAMD1C_uc003ear.2_Silent_p.S70S|GRAMD1C_uc003eas.2_Silent_p.S32S NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 237 integral to membrane ovary(2)|skin(1) 3 AAAAATTATCCAAGTCAATCA 0.373 6 70 --- --- --- --- PASS KIAA1407 57577 broad.mit.edu 37 3 113697729 113697729 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:113697729C>A uc003eax.2 - 15 2583 c.2436G>T c.(2434-2436)AAG>AAT p.K812N KIAA1407_uc011bin.1_RNA NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 812 ovary(2) 2 GGATGACTCTCTTAAGCAGTA 0.418 10 221 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121207700 121207700 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:121207700G>T uc003eee.3 - 16 4207 c.4078C>A c.(4078-4080)CAA>AAA p.Q1360K POLQ_uc003eed.2_Missense_Mutation_p.Q532K NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1360 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) GAGTTCTGTTGGACTAAGCTC 0.433 DNA_polymerases_(catalytic_subunits) 8 141 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121208219 121208219 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:121208219G>T uc003eee.3 - 16 3688 c.3559C>A c.(3559-3561)CAT>AAT p.H1187N POLQ_uc003eed.2_Missense_Mutation_p.H359N NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1187 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGGATGTCATGGTGTTTCATA 0.373 DNA_polymerases_(catalytic_subunits) 9 263 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121410244 121410244 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:121410244G>T uc003eei.3 - 14 8078 c.7952C>A c.(7951-7953)TCT>TAT p.S2651Y GOLGB1_uc010hrc.2_Missense_Mutation_p.S2656Y|GOLGB1_uc003eej.3_Missense_Mutation_p.S2617Y NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2651 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TCTCTTTTGAGAGGAGGAAAA 0.378 10 241 --- --- --- --- PASS CCDC14 64770 broad.mit.edu 37 3 123665977 123665977 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:123665977C>A uc011bjx.1 - 8 1109 c.1018G>T c.(1018-1020)GGA>TGA p.G340* CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Nonsense_Mutation_p.G140*|CCDC14_uc010hrt.2_Nonsense_Mutation_p.G299*|CCDC14_uc003egy.3_Nonsense_Mutation_p.G140*|CCDC14_uc003egz.2_Nonsense_Mutation_p.G140* NM_022757 NP_073594 Q49A88 CCD14_HUMAN coiled-coil domain containing 14 340 centrosome 0 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) TTATGAATTCCTTGTTGTGGC 0.418 7 115 --- --- --- --- PASS ZNF148 7707 broad.mit.edu 37 3 124998070 124998070 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:124998070C>A uc003ehx.3 - 6 967 c.481G>T c.(481-483)GGA>TGA p.G161* SLC12A8_uc003ehw.3_5'UTR|ZNF148_uc003ehz.3_Nonsense_Mutation_p.G161*|ZNF148_uc010hsa.2_Nonsense_Mutation_p.G161*|ZNF148_uc003eia.3_Nonsense_Mutation_p.G161*|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 161 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 CCAAGTGATCCATCCTCATTT 0.289 7 125 --- --- --- --- PASS OSBPL11 114885 broad.mit.edu 37 3 125286249 125286249 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:125286249G>T uc003eic.2 - 6 1594 c.857C>A c.(856-858)TCA>TAA p.S286* NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 286 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 TGAAGGCAATGAGCCCTTCTG 0.393 8 125 --- --- --- --- PASS KBTBD12 166348 broad.mit.edu 37 3 127646667 127646667 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:127646667C>A uc010hsr.2 + 2 1134 c.1131C>A c.(1129-1131)CTC>CTA p.L377L KBTBD12_uc003ejy.3_5'UTR|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Missense_Mutation_p.S19Y|KBTBD12_uc003ejz.2_Silent_p.L377L NM_207335 NP_997218 Q3ZCT8 KBTBC_HUMAN kelch domain containing 6 377 ovary(1) 1 TTCGAGAACTCTATGCTCTGG 0.368 11 284 --- --- --- --- PASS ACAD9 28976 broad.mit.edu 37 3 128629610 128629610 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:128629610G>T uc003ela.3 + 17 1921 c.1719G>T c.(1717-1719)GTG>GTT p.V573V KIAA1257_uc003elg.1_Intron|ACAD9_uc011bks.1_Silent_p.V450V|ACAD9_uc003elb.2_Silent_p.V450V|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Silent_p.V225V|uc003elf.1_Intron NM_014049 NP_054768 Q9H845 ACAD9_HUMAN acyl-Coenzyme A dehydrogenase family, member 9 573 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding ovary(2)|central_nervous_system(1) 3 CCTTCTGCGTGGAAGCTTACT 0.522 9 249 --- --- --- --- PASS RAB43 339122 broad.mit.edu 37 3 128852994 128852994 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:128852994G>T uc003elo.1 - 9 797 c.586C>A c.(586-588)CGG>AGG p.R196R ISY1_uc010hsz.1_Intron|ISY1_uc003elp.1_Silent_p.R196R|ISY1_uc010hta.1_Silent_p.R218R NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 CTTGCCAGCCGAGCCTCTCTC 0.423 5 94 --- --- --- --- PASS RHO 6010 broad.mit.edu 37 3 129251164 129251164 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:129251164G>T uc003emt.2 + 3 696 c.601G>T c.(601-603)GAG>TAG p.E201* NM_000539 NP_000530 P08100 OPSD_HUMAN rhodopsin 201 Extracellular. Zinc (By similarity). protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding 0 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) GGTCAACAACGAGTCTTTTGT 0.542 5 87 --- --- --- --- PASS COL29A1 256076 broad.mit.edu 37 3 130174503 130174503 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:130174503C>A uc010htj.1 + 37 7277 c.6783C>A c.(6781-6783)CTC>CTA p.L2261L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Silent_p.L300L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2261 Nonhelical region. axon guidance|cell adhesion collagen 0 TTGCAAGTCTCACTTCTGGTA 0.318 7 113 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132172954 132172954 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:132172954C>A uc003eor.2 + 9 950 c.885C>A c.(883-885)ACC>ACA p.T295T DNAJC13_uc010htq.1_Silent_p.T295T|DNAJC13_uc003eos.1_5'Flank NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 295 heat shock protein binding ovary(1)|breast(1) 2 AACTTTTTACCATTGAATTTA 0.289 11 344 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098645 133098645 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:133098645G>T uc003eph.2 + 4 364 c.90G>T c.(88-90)CAG>CAT p.Q30H TMEM108_uc003epi.2_Missense_Mutation_p.Q30H|TMEM108_uc003epj.1_Missense_Mutation_p.Q30H|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Translation_Start_Site NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 30 Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 TTGCCATCCAGGAACCATCTC 0.537 10 292 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133496080 133496080 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:133496080C>T uc003epu.1 + 21 3788 c.2060C>T c.(2059-2061)TCA>TTA p.S687L TF_uc011blt.1_Missense_Mutation_p.S560L|TF_uc003epw.1_Missense_Mutation_p.S126L|TF_uc003epv.1_Missense_Mutation_p.S687L NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 687 cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGCTCCACCTCATGTGAGTAG 0.488 5 24 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134270794 134270794 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:134270794C>A uc003eqo.1 + 13 1856 c.1407C>A c.(1405-1407)CTC>CTA p.L469L CEP63_uc003eql.1_Silent_p.L423L|CEP63_uc003eqm.2_Silent_p.L423L|CEP63_uc003eqn.1_Silent_p.L469L|CEP63_uc003eqp.1_Silent_p.L98L NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 469 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 TGGAGTCACTCAAATTAGAAA 0.323 13 360 --- --- --- --- PASS PCCB 5096 broad.mit.edu 37 3 136035888 136035888 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:136035888C>A uc003eqy.1 + 10 1123 c.1072C>A c.(1072-1074)CAA>AAA p.Q358K PCCB_uc003eqz.1_Missense_Mutation_p.Q358K|PCCB_uc011bmc.1_Missense_Mutation_p.Q378K|PCCB_uc011bmd.1_Missense_Mutation_p.Q275K NM_000532 NP_000523 P05166 PCCB_HUMAN propionyl Coenzyme A carboxylase, beta 358 Acyl-CoA binding (Potential).|Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity 0 Biotin(DB00121)|L-Valine(DB00161) TGTTGGCAACCAACCTAAGGT 0.463 8 196 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136078014 136078014 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:136078014C>A uc003era.1 - 27 3204 c.2912G>T c.(2911-2913)CGA>CTA p.R971L STAG1_uc003erb.1_Missense_Mutation_p.R971L NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 971 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AACTGCTTCTCGTGTCTTAAT 0.408 6 106 --- --- --- --- PASS ARMC8 25852 broad.mit.edu 37 3 137963964 137963964 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:137963964G>C uc003esa.1 + 13 1398 c.1031G>C c.(1030-1032)CGC>CCC p.R344P ARMC8_uc003erw.2_Missense_Mutation_p.R344P|ARMC8_uc003erx.2_Missense_Mutation_p.R344P|ARMC8_uc003ery.2_Missense_Mutation_p.R316P|ARMC8_uc003erz.2_Missense_Mutation_p.R316P|ARMC8_uc011bmf.1_Missense_Mutation_p.R327P|ARMC8_uc011bmg.1_Missense_Mutation_p.R291P|ARMC8_uc011bmh.1_Missense_Mutation_p.R285P|ARMC8_uc003esb.1_Missense_Mutation_p.R316P|ARMC8_uc003esc.1_Missense_Mutation_p.R116P NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 358 binding 0 CACGAACTCCGCCAGGCTGCA 0.458 13 78 --- --- --- --- PASS ARMC8 25852 broad.mit.edu 37 3 137988927 137988927 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:137988927C>A uc003esa.1 + 17 1757 c.1390C>A c.(1390-1392)CAG>AAG p.Q464K TXNDC6_uc003esd.1_Intron|TXNDC6_uc010huf.1_Intron|TXNDC6_uc003ese.1_Intron|ARMC8_uc011bmf.1_Missense_Mutation_p.Q447K|ARMC8_uc011bmg.1_Missense_Mutation_p.Q411K|ARMC8_uc011bmh.1_Missense_Mutation_p.Q405K|ARMC8_uc003esb.1_Missense_Mutation_p.Q436K|ARMC8_uc003esc.1_Missense_Mutation_p.Q236K|ARMC8_uc003esf.1_Missense_Mutation_p.Q47K NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 478 ARM 10. binding 0 TGGATTAACTCAGAGTGAAAA 0.363 7 99 --- --- --- --- PASS CEP70 80321 broad.mit.edu 37 3 138291716 138291716 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:138291716G>T uc003esl.2 - 3 252 c.54C>A c.(52-54)CTC>CTA p.L18L CEP70_uc011bmk.1_Intron|CEP70_uc011bml.1_5'UTR|CEP70_uc011bmm.1_Intron|CEP70_uc003esm.2_Silent_p.L18L|CEP70_uc003esn.2_Silent_p.L18L NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN centrosomal protein 70 kDa 18 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding skin(1) 1 TTTCAGTCATGAGTCTGTCTG 0.338 9 244 --- --- --- --- PASS MRPS22 56945 broad.mit.edu 37 3 139069035 139069035 + Silent SNP C A A rs139990376 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:139069035C>A uc003etb.2 + 4 527 c.519C>A c.(517-519)GTC>GTA p.V173V MRPS22_uc003etc.2_RNA|MRPS22_uc003etd.2_Silent_p.V172V|MRPS22_uc003ete.2_Silent_p.V132V NM_020191 NP_064576 P82650 RT22_HUMAN mitochondrial ribosomal protein S22 173 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(2)|skin(1) 3 GTTTTATTGTCGTCAGAGAAC 0.393 4 57 --- --- --- --- PASS COPB2 9276 broad.mit.edu 37 3 139080022 139080022 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:139080022G>T uc003etf.3 - 17 2241 c.2111C>A c.(2110-2112)ACT>AAT p.T704N COPB2_uc011bmv.1_Missense_Mutation_p.T675N|COPB2_uc010hui.2_Missense_Mutation_p.T675N NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 704 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TCCAGAGGCAGTGGCCAAAAG 0.478 7 170 --- --- --- --- PASS GRK7 131890 broad.mit.edu 37 3 141499363 141499363 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:141499363C>A uc011bnd.1 + 2 844 c.760C>A c.(760-762)CTG>ATG p.L254M NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 254 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CATTGTCTCTCTGGCCTATGC 0.517 8 122 --- --- --- --- PASS TFDP2 7029 broad.mit.edu 37 3 141671423 141671423 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:141671423C>A uc003eun.3 - 13 1652 c.1273G>T c.(1273-1275)GAG>TAG p.E425* TFDP2_uc003euk.3_Nonsense_Mutation_p.E338*|TFDP2_uc010hur.2_Nonsense_Mutation_p.E365*|TFDP2_uc003eul.3_Nonsense_Mutation_p.E365*|TFDP2_uc011bnf.1_Nonsense_Mutation_p.E328*|TFDP2_uc011bng.1_Nonsense_Mutation_p.E289*|TFDP2_uc003eum.3_Nonsense_Mutation_p.E365* NM_006286 NP_006277 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization 425 cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1) 1 CAGGGGGTCTCGCCTCGGGAC 0.527 6 135 --- --- --- --- PASS PLSCR2 57047 broad.mit.edu 37 3 146167049 146167049 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:146167049G>T uc003evv.1 - 7 922 c.589C>A c.(589-591)CCT>ACT p.P197T PLSCR2_uc003evw.1_Missense_Mutation_p.P266T NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 197 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 AGGTCTCTAGGGAATTGGATT 0.413 12 214 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147113643 147113643 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:147113643G>A uc003ewd.1 - 3 957 c.684C>T c.(682-684)CAC>CAT p.H228H ZIC4_uc003ewc.1_Silent_p.H158H|ZIC4_uc011bno.1_Silent_p.H278H NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 228 C2H2-type 3. H -> Q (in Ref. 2; AAH29507). nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 ACTGACCTGTGTGAGTTCGTT 0.572 10 76 --- --- --- --- PASS GYG1 2992 broad.mit.edu 37 3 148714590 148714590 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:148714590G>C uc003ewn.2 + 4 433 c.380G>C c.(379-381)GGG>GCG p.G127A GYG1_uc011bnp.1_Missense_Mutation_p.G127A|GYG1_uc003ewo.2_Missense_Mutation_p.G127A|GYG1_uc003ewp.2_Missense_Mutation_p.G127A NM_004130 NP_004121 P46976 GLYG_HUMAN glycogenin 1 127 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol glycogenin glucosyltransferase activity|metal ion binding|protein binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) CCAGACCCAGGGTGGCCTGAC 0.423 10 66 --- --- --- --- PASS CP 1356 broad.mit.edu 37 3 148901366 148901366 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:148901366C>T uc003ewy.3 - 13 2565 c.2312G>A c.(2311-2313)GGA>GAA p.G771E CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G552E|CP_uc003ewz.2_Missense_Mutation_p.G771E NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 771 Plastocyanin-like 5.|F5/8 type A 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GTAAAACTCTCCCTTATCTAA 0.303 8 43 --- --- --- --- PASS COMMD2 51122 broad.mit.edu 37 3 149469237 149469237 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:149469237C>A uc003exk.2 - 3 228 c.181G>T c.(181-183)GGT>TGT p.G61C NM_016094 NP_057178 Q86X83 COMD2_HUMAN COMM domain containing 2 61 protein binding 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CCTTCCACACCATGCTGGACA 0.388 7 119 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154878217 154878217 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:154878217C>A uc010hvr.1 + 17 1851 c.1640C>A c.(1639-1641)TCT>TAT p.S547Y MME_uc003fab.1_Missense_Mutation_p.S547Y|MME_uc003fac.1_Missense_Mutation_p.S547Y|MME_uc003fad.1_Missense_Mutation_p.S547Y|MME_uc003fae.1_Missense_Mutation_p.S547Y NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 547 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GCATTTTACTCTTCAGGAAGA 0.338 13 357 --- --- --- --- PASS KCNAB1 7881 broad.mit.edu 37 3 156254473 156254473 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:156254473G>T uc003far.2 + 14 1261 c.1197G>T c.(1195-1197)GTG>GTT p.V399V KCNAB1_uc011bon.1_Silent_p.V370V|KCNAB1_uc003fas.2_Silent_p.V388V|KCNAB1_uc003fat.2_Silent_p.V381V|KCNAB1_uc010hvt.1_Silent_p.V352V|KCNAB1_uc011boo.1_Silent_p.V275V NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 399 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CATCACATGTGGTAAATGAGA 0.398 8 151 --- --- --- --- PASS VEPH1 79674 broad.mit.edu 37 3 157146189 157146189 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:157146189C>A uc003fbj.1 - 5 935 c.618G>T c.(616-618)TTG>TTT p.L206F VEPH1_uc003fbk.1_Missense_Mutation_p.L206F|VEPH1_uc010hvu.1_Missense_Mutation_p.L206F NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 206 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GCTGAGACATCAAGGCCAGGA 0.433 13 77 --- --- --- --- PASS RSRC1 51319 broad.mit.edu 37 3 158261981 158261981 + Nonsense_Mutation SNP G T T rs140479858 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:158261981G>T uc003fbt.2 + 10 1033 c.922G>T c.(922-924)GAG>TAG p.E308* RSRC1_uc003fbv.2_Nonsense_Mutation_p.E250* NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 308 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) GTTATTTATCGAGAAAGCTGA 0.333 8 216 --- --- --- --- PASS MFSD1 64747 broad.mit.edu 37 3 158541980 158541980 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:158541980C>A uc003fcl.1 + 13 1273 c.1243C>A c.(1243-1245)CGG>AGG p.R415R MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Silent_p.R318R|MFSD1_uc011bow.1_Silent_p.R376R|MFSD1_uc011box.1_Silent_p.R342R NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 415 transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) ACTGGATTCTCGGGGGTATTT 0.368 11 386 --- --- --- --- PASS SMC4 10051 broad.mit.edu 37 3 160141331 160141331 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:160141331G>T uc003fdh.2 + 14 2251 c.2138G>T c.(2137-2139)CGA>CTA p.R713L IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.R477L|SMC4_uc003fdi.2_Missense_Mutation_p.R688L|SMC4_uc003fdj.2_Missense_Mutation_p.R713L|SMC4_uc010hwd.2_Missense_Mutation_p.R713L|SMC4_uc003fdl.2_Missense_Mutation_p.R416L NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 713 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TTTGCTTTACGAGATACCTTA 0.343 8 276 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907978 164907978 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:164907978C>A uc003fej.3 - 2 1085 c.641G>T c.(640-642)CGA>CTA p.R214L SLITRK3_uc003fek.2_Missense_Mutation_p.R214L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 214 Extracellular (Potential).|LRR 6. integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TAGCATTCCTCGGTAAAAAAG 0.418 HNSCC(40;0.11) 8 95 --- --- --- --- PASS WDR49 151790 broad.mit.edu 37 3 167272570 167272570 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:167272570C>A uc003fev.1 - 6 974 c.668G>T c.(667-669)GGA>GTA p.G223V WDR49_uc003feu.1_Missense_Mutation_p.G48V|WDR49_uc011bpd.1_Missense_Mutation_p.G276V|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 223 WD 4. large_intestine(1)|ovary(1)|skin(1) 3 GTGACAATATCCATTGAAGTC 0.353 23 118 --- --- --- --- PASS PDCD10 11235 broad.mit.edu 37 3 167413456 167413456 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:167413456C>A uc003fex.2 - 6 721 c.323G>T c.(322-324)CGA>CTA p.R108L PDCD10_uc003fez.2_Missense_Mutation_p.R108L|PDCD10_uc003fey.2_Missense_Mutation_p.R108L NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 108 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TTTAAGTGCTCGTGCCTTTTC 0.368 Familial_Cerebral_Cavernous_Angioma 8 201 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167747050 167747050 + Nonsense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:167747050G>A uc003ffe.2 - 11 1818 c.1474C>T c.(1474-1476)CAG>TAG p.Q492* GOLIM4_uc011bpe.1_Nonsense_Mutation_p.Q492*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.Q464*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.Q464* NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 492 Glu-rich.|Gln-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TCTGCTCCCTGAACGATATCA 0.393 21 114 --- --- --- --- PASS ARPM1 84517 broad.mit.edu 37 3 169485571 169485571 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:169485571C>A uc003ffs.1 - 2 1143 c.768G>T c.(766-768)GAG>GAT p.E256D TERC_uc003ffr.1_5'Flank NM_032487 NP_115876 Q9BYD9 ARPM1_HUMAN actin related protein M1 256 cytoplasm|cytoskeleton 0 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AGAAGAGGGCCTCTGGACAAG 0.468 7 107 --- --- --- --- PASS SLC7A14 57709 broad.mit.edu 37 3 170198327 170198327 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:170198327A>T uc003fgz.2 - 7 2060 c.1744T>A c.(1744-1746)TTC>ATC p.F582I CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 582 Helical; (Potential). integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AAGATGATGAAGGAGCAGAAG 0.552 7 31 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170819284 170819284 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:170819284C>A uc003fhh.2 - 22 2890 c.2545G>T c.(2545-2547)GAG>TAG p.E849* TNIK_uc003fhi.2_Nonsense_Mutation_p.E794*|TNIK_uc003fhj.2_Nonsense_Mutation_p.E820*|TNIK_uc003fhk.2_Nonsense_Mutation_p.E841*|TNIK_uc003fhl.2_Nonsense_Mutation_p.E765*|TNIK_uc003fhm.2_Nonsense_Mutation_p.E786*|TNIK_uc003fhn.2_Nonsense_Mutation_p.E812*|TNIK_uc003fho.2_Nonsense_Mutation_p.E757*|TNIK_uc003fhg.2_Nonsense_Mutation_p.E27* NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 849 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TCATGGGTCTCGCTCTCTCCA 0.483 7 268 --- --- --- --- PASS FNDC3B 64778 broad.mit.edu 37 3 171851309 171851309 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:171851309G>T uc003fhy.2 + 3 332 c.160G>T c.(160-162)GAG>TAG p.E54* FNDC3B_uc003fhz.3_Nonsense_Mutation_p.E54*|FNDC3B_uc003fia.2_5'UTR|FNDC3B_uc003fhx.2_RNA NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 54 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AATAAGAGCAGAGGATGGAAC 0.338 7 101 --- --- --- --- PASS SPATA16 83893 broad.mit.edu 37 3 172835271 172835271 + Missense_Mutation SNP C G G rs143065627 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:172835271C>G uc003fin.3 - 2 409 c.251G>C c.(250-252)CGG>CCG p.R84P NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 84 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TTCTGCCTTCCGTTTAAAGGC 0.393 35 248 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179051459 179051459 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:179051459G>T uc003fjq.1 + 6 1050 c.707G>T c.(706-708)CGA>CTA p.R236L ZNF639_uc003fjr.1_Missense_Mutation_p.R236L NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 236 C2H2-type 2. initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AATGTGTGTCGAGTATGCAAG 0.348 6 78 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179426590 179426590 + Missense_Mutation SNP G T T rs61760204 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:179426590G>T uc003fkh.2 + 6 731 c.650G>T c.(649-651)CGA>CTA p.R217L USP13_uc003fkf.2_Missense_Mutation_p.R217L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 217 UBP-type. 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) TGCGACCTGCGAGAAAACCTC 0.493 7 159 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180359867 180359867 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:180359867C>A uc010hxe.2 - 13 1903 c.1788G>T c.(1786-1788)ATG>ATT p.M596I CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 596 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TTCGCTCTTCCATTGCTGTGT 0.343 8 176 --- --- --- --- PASS FXR1 8087 broad.mit.edu 37 3 180671624 180671624 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:180671624C>A uc003fkq.2 + 9 898 c.876C>A c.(874-876)CTC>CTA p.L292L FXR1_uc003fkp.2_Silent_p.L207L|FXR1_uc003fkr.2_Silent_p.L292L|FXR1_uc011bqj.1_Silent_p.L206L|FXR1_uc003fks.2_Silent_p.L206L|FXR1_uc011bqk.1_Silent_p.L243L|FXR1_uc011bql.1_Silent_p.L279L NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 292 KH 2. apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) CTAGGAATCTCGTTGGTAGGT 0.323 7 155 --- --- --- --- PASS ATP11B 23200 broad.mit.edu 37 3 182553854 182553854 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:182553854A>G uc003flb.2 + 5 604 c.347A>G c.(346-348)GAT>GGT p.D116G ATP11B_uc003fla.2_Missense_Mutation_p.D116G NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 116 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) CATAACTCAGATAATGAAGTA 0.313 14 88 --- --- --- --- PASS DCUN1D1 54165 broad.mit.edu 37 3 182679086 182679086 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:182679086C>A uc003fld.1 - 4 497 c.448G>T c.(448-450)GAA>TAA p.E150* DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E7* NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 150 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CGTCCTGGTTCTTTCAATTCT 0.308 13 498 --- --- --- --- PASS DCUN1D1 54165 broad.mit.edu 37 3 182679095 182679095 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:182679095C>A uc003fld.1 - 4 488 c.439G>T c.(439-441)GAA>TAA p.E147* DCUN1D1_uc011bqn.1_Nonsense_Mutation_p.E4* NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 147 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TCTTTCAATTCTTGTTCCATC 0.299 13 529 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182733349 182733349 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:182733349G>T uc003fle.2 - 19 2192 c.2055C>A c.(2053-2055)ACC>ACA p.T685T MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Silent_p.T568T|MCCC1_uc003flg.2_Silent_p.T576T NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 685 Biotinyl-binding. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) GAGACTTTATGGTATGCTGCA 0.428 10 233 --- --- --- --- PASS MCF2L2 23101 broad.mit.edu 37 3 183041131 183041131 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:183041131C>A uc003fli.1 - 6 585 c.495G>T c.(493-495)ATG>ATT p.M165I MCF2L2_uc003flj.1_Missense_Mutation_p.M165I|MCF2L2_uc003flp.1_Missense_Mutation_p.M200I NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 165 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGAGTTTACCATGATGATCT 0.358 8 136 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184075157 184075157 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:184075157C>A uc003foi.2 - 8 1015 c.891G>T c.(889-891)CGG>CGT p.R297R CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Silent_p.R297R|CLCN2_uc011brl.1_Silent_p.R297R|CLCN2_uc011brm.1_Silent_p.R253R|CLCN2_uc011brn.1_Silent_p.R297R NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 297 chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) CACCTTCATCCCGGTTCCAGA 0.627 6 43 --- --- --- --- PASS LIPH 200879 broad.mit.edu 37 3 185245287 185245287 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:185245287G>T uc003fpm.2 - 4 723 c.613C>A c.(613-615)CAT>AAT p.H205N LIPH_uc010hyh.2_Intron NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 205 Missing (in LAH2). lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GTGTCGGAATGGATGACATCA 0.517 7 118 --- --- --- --- PASS EIF4A2 1974 broad.mit.edu 37 3 186504960 186504960 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:186504960C>A uc003fqs.2 + 8 855 c.816C>A c.(814-816)ACC>ACA p.T272T EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Silent_p.T273T|EIF4A2_uc003fqv.2_Silent_p.T177T|EIF4A2_uc003fqw.2_Silent_p.T177T|EIF4A2_uc011bsb.1_Silent_p.T145T|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 272 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) AGACACTGACCATTACACAGG 0.413 T BCL6 NHL 8 169 --- --- --- --- PASS RTP1 132112 broad.mit.edu 37 3 186917839 186917839 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:186917839C>A uc003frg.2 + 2 803 c.773C>A c.(772-774)TCT>TAT p.S258Y NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 258 Helical; (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CTGCAGTTCTCTTTCCGTAGC 0.562 12 73 --- --- --- --- PASS MASP1 5648 broad.mit.edu 37 3 186959294 186959294 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:186959294C>A uc003frh.1 - 10 1610 c.1278G>T c.(1276-1278)GGG>GGT p.G426G MASP1_uc003fri.2_Silent_p.G426G|MASP1_uc003frj.2_Silent_p.G395G NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 426 Sushi 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GTAGGCTTCTCCCCAATACTT 0.478 7 125 --- --- --- --- PASS CLDN16 10686 broad.mit.edu 37 3 190127775 190127775 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:190127775G>T uc003fsi.2 + 5 936 c.868G>T c.(868-870)GCC>TCC p.A290S CLDN16_uc010hze.2_3'UTR NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 290 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GTCATACTCAGCCCCTCGCAC 0.438 6 83 --- --- --- --- PASS FGF12 2257 broad.mit.edu 37 3 191888391 191888391 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:191888391C>A uc003fsx.2 - 4 1295 c.469G>T c.(469-471)GTG>TTG p.V157L FGF12_uc003fsy.2_Missense_Mutation_p.V95L NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 157 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) GAATAGATCACATAGTAGTTT 0.368 8 259 --- --- --- --- PASS OPA1 4976 broad.mit.edu 37 3 193349413 193349413 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:193349413G>T uc003ftm.2 + 6 871 c.637G>T c.(637-639)GAG>TAG p.E213* OPA1_uc003ftg.2_Nonsense_Mutation_p.E268*|OPA1_uc003fth.2_Nonsense_Mutation_p.E232*|OPA1_uc003fti.2_Nonsense_Mutation_p.E250*|OPA1_uc003ftj.2_Nonsense_Mutation_p.E231*|OPA1_uc003ftk.2_Nonsense_Mutation_p.E214*|OPA1_uc003ftl.2_Nonsense_Mutation_p.E195*|OPA1_uc003ftn.2_Nonsense_Mutation_p.E177* NM_015560 NP_056375 O60313 OPA1_HUMAN optic atrophy 1 isoform 1 213 Mitochondrial intermembrane (By similarity).|Potential. apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding 0 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GTCAGACAAAGAGAAAATTGA 0.284 10 290 --- --- --- --- PASS LSG1 55341 broad.mit.edu 37 3 194366966 194366966 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:194366966C>A uc003fui.2 - 12 1865 c.1550G>T c.(1549-1551)CGA>CTA p.R517L NM_018385 NP_060855 Q9H089 LSG1_HUMAN large subunit GTPase 1 517 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity 0 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) CATGAATCCTCGCATGTCTGT 0.448 5 118 --- --- --- --- PASS TFRC 7037 broad.mit.edu 37 3 195780393 195780393 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:195780393G>T uc003fvz.3 - 18 2219 c.1936C>A c.(1936-1938)CGT>AGT p.R646S TFRC_uc003fwa.3_Missense_Mutation_p.R646S|TFRC_uc010hzy.2_Missense_Mutation_p.R565S|TFRC_uc011btr.1_Missense_Mutation_p.R364S NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 646 Cell attachment site; required for binding to transferrin.|Extracellular (Potential).|Ligand-binding. R->A,H: No binding to transferrin.|R->K: 5% binding to transferrin. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AAGTCTCCACGAGCAGAATAC 0.403 T BCL6 NHL 5 110 --- --- --- --- PASS UBXN7 26043 broad.mit.edu 37 3 196129834 196129834 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:196129834G>T uc003fwm.3 - 3 353 c.278C>A c.(277-279)CCA>CAA p.P93Q UBXN7_uc003fwn.3_5'UTR|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.P93Q NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 93 protein binding ovary(2)|pancreas(1) 3 ACCAAATAATGGTTCTGGTTC 0.338 12 320 --- --- --- --- PASS DLG1 1739 broad.mit.edu 37 3 196867071 196867071 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr3:196867071G>T uc003fxo.3 - 9 942 c.752C>A c.(751-753)TCA>TAA p.S251* DLG1_uc011bub.1_Nonsense_Mutation_p.S135*|DLG1_uc011buc.1_Nonsense_Mutation_p.S135*|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Nonsense_Mutation_p.S251*|DLG1_uc011bue.1_Nonsense_Mutation_p.S218*|DLG1_uc010ial.2_Nonsense_Mutation_p.S251*|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Nonsense_Mutation_p.S218*|DLG1_uc010ian.2_Nonsense_Mutation_p.S118* NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 251 PDZ 1. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GAAAATACTTGAGTCATCTCC 0.423 7 108 --- --- --- --- PASS MIR571 693156 broad.mit.edu 37 4 343949 343949 + RNA SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:343949C>A hsa-mir-571|MI0003578 + c.4C>A ZNF141_uc003fzz.2_Intron|ZNF141_uc003gaa.2_Intron|ZNF141_uc003gab.2_Intron 0 tcagaatcctcagtaagacca 0.010 6 52 --- --- --- --- PASS ZNF721 170960 broad.mit.edu 37 4 438027 438027 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:438027G>T uc003gag.2 - 3 920 c.229C>A c.(229-231)CAG>AAG p.Q77K ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Q109K|ZNF721_uc010ibe.2_Missense_Mutation_p.Q65K NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 77 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 ATTTTGCTCTGAGTATTTGAC 0.303 6 77 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3189401 3189401 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:3189401G>T uc011bvq.1 + 40 5164 c.5019G>T c.(5017-5019)CTG>CTT p.L1673L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1671 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CTGTTCAACTGTGGATATCGG 0.398 7 150 --- --- --- --- PASS CRMP1 1400 broad.mit.edu 37 4 5837709 5837709 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:5837709G>T uc003gip.2 - 12 1315 c.1214C>A c.(1213-1215)TCG>TAG p.S405* CRMP1_uc003gin.1_Nonsense_Mutation_p.S317*|CRMP1_uc003giq.2_Nonsense_Mutation_p.S405*|CRMP1_uc003gir.2_Nonsense_Mutation_p.S400*|CRMP1_uc003gis.2_Nonsense_Mutation_p.S519* NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 405 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) GTCGGCATCCGAGCCCACGGC 0.517 6 56 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22422582 22422582 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:22422582G>T uc003gqm.1 - 12 2001 c.1736C>A c.(1735-1737)CCA>CAA p.P579Q GPR125_uc010ieo.1_Missense_Mutation_p.P453Q|GPR125_uc003gqn.1_Missense_Mutation_p.P353Q|GPR125_uc003gqo.2_Missense_Mutation_p.P579Q NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 579 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GTTTCCCTCTGGATCCCGCCT 0.463 9 222 --- --- --- --- PASS SEL1L3 23231 broad.mit.edu 37 4 25783963 25783963 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:25783963G>T uc003gru.3 - 15 2510 c.2358C>A c.(2356-2358)TAC>TAA p.Y786* SEL1L3_uc003grv.2_Nonsense_Mutation_p.Y193* NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 786 Sel1-like 5. integral to membrane binding 0 CTTTTAACCAGTACTTTGCTG 0.438 5 52 --- --- --- --- PASS ARAP2 116984 broad.mit.edu 37 4 36214902 36214902 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:36214902C>A uc003gsq.1 - 4 1342 c.1004G>T c.(1003-1005)GGA>GTA p.G335V ARAP2_uc003gsr.1_Missense_Mutation_p.G335V NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 335 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 AAAGGTCTCTCCATAAGGAAA 0.328 6 95 --- --- --- --- PASS TBC1D1 23216 broad.mit.edu 37 4 38097700 38097700 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:38097700C>A uc003gtb.2 + 14 2730 c.2387C>A c.(2386-2388)GCT>GAT p.A796D TBC1D1_uc011byd.1_Missense_Mutation_p.A890D|TBC1D1_uc010ifd.2_Missense_Mutation_p.A583D NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 796 nucleus Rab GTPase activator activity ovary(1) 1 ATGCACTCGGCTGTTGGGCAA 0.403 5 86 --- --- --- --- PASS TLR10 81793 broad.mit.edu 37 4 38776168 38776168 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:38776168C>A uc003gti.2 - 2 1423 c.1044G>T c.(1042-1044)ACG>ACT p.T348T TLR10_uc003gtj.2_Silent_p.T348T|TLR10_uc003gtk.2_Silent_p.T348T NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 348 LRR 8.|Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 ATTGGAATTTCGTAGGATAAT 0.328 5 101 --- --- --- --- PASS N4BP2 55728 broad.mit.edu 37 4 40123254 40123254 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:40123254C>A uc003guy.3 + 9 3861 c.3523C>A c.(3523-3525)CCT>ACT p.P1175T N4BP2_uc010ifq.2_Missense_Mutation_p.P1095T|N4BP2_uc010ifr.2_Missense_Mutation_p.P1095T NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 1175 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TTCTAATTCTCCTGTGCCAGA 0.418 8 70 --- --- --- --- PASS LIMCH1 22998 broad.mit.edu 37 4 41699182 41699182 + Missense_Mutation SNP G C C rs142431467 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:41699182G>C uc003gvu.3 + 27 3286 c.3232G>C c.(3232-3234)GGG>CGG p.G1078R LIMCH1_uc003gvv.3_Missense_Mutation_p.G1052R|LIMCH1_uc003gvw.3_Missense_Mutation_p.G1051R|LIMCH1_uc003gvx.3_Missense_Mutation_p.G1064R|LIMCH1_uc003gwe.3_Missense_Mutation_p.G975R|LIMCH1_uc003gvy.3_Missense_Mutation_p.G880R|LIMCH1_uc003gwa.3_Missense_Mutation_p.G892R|LIMCH1_uc003gvz.3_Missense_Mutation_p.G1462R|LIMCH1_uc011byu.1_Missense_Mutation_p.G911R|LIMCH1_uc003gwc.3_Missense_Mutation_p.G897R|LIMCH1_uc003gwd.3_Missense_Mutation_p.G885R|LIMCH1_uc011byv.1_Missense_Mutation_p.G828R|LIMCH1_uc011byw.1_Missense_Mutation_p.G351R|LIMCH1_uc010ifv.2_RNA NM_014988 NP_055803 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 isoform a 1078 actomyosin structure organization actin binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 CACAGGTGCCGGGCAGCCTAC 0.453 4 77 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42553231 42553231 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:42553231G>T uc003gwr.2 - 18 1818 c.1586C>A c.(1585-1587)TCG>TAG p.S529* ATP8A1_uc003gws.2_Nonsense_Mutation_p.S514*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.S514* NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 529 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) TATAATCACCGAGTCGGGTGT 0.353 5 120 --- --- --- --- PASS ATP8A1 10396 broad.mit.edu 37 4 42580325 42580325 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:42580325C>A uc003gwr.2 - 12 1312 c.1080G>T c.(1078-1080)TTG>TTT p.L360F ATP8A1_uc003gws.2_Missense_Mutation_p.L360F|ATP8A1_uc011byz.1_Missense_Mutation_p.L360F NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 360 Helical; (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) CTAATGTAACCAATAAGCTGA 0.358 6 62 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47647201 47647201 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:47647201C>A uc003gxm.2 - 14 1947 c.1854G>T c.(1852-1854)GAG>GAT p.E618D CORIN_uc011bzf.1_Missense_Mutation_p.E479D|CORIN_uc011bzg.1_Missense_Mutation_p.E551D|CORIN_uc011bzh.1_Missense_Mutation_p.E581D NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 618 Extracellular (Potential).|LDL-receptor class A 6. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity ovary(1)|central_nervous_system(1) 2 AAAGATCTCTCTCTTTACAAC 0.368 6 51 --- --- --- --- PASS CORIN 10699 broad.mit.edu 37 4 47667239 47667239 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:47667239G>T uc003gxm.2 - 11 1492 c.1399C>A c.(1399-1401)CCC>ACC p.P467T CORIN_uc011bzf.1_Missense_Mutation_p.P328T|CORIN_uc011bzg.1_Missense_Mutation_p.P400T|CORIN_uc011bzh.1_Missense_Mutation_p.P430T|CORIN_uc011bzi.1_Missense_Mutation_p.P430T NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN corin 467 Extracellular (Potential).|FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.P467R(1) ovary(1)|central_nervous_system(1) 2 CTGTTGTAGGGCAAATTCATG 0.353 13 62 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52861072 52861072 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:52861072C>G uc003gzi.2 - 4 2129 c.2116G>C c.(2116-2118)GAT>CAT p.D706H NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 706 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 GACCCCTCATCAGAGTCACAG 0.527 6 51 --- --- --- --- PASS SPATA18 132671 broad.mit.edu 37 4 52948573 52948573 + Nonsense_Mutation SNP C A A rs146699723 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:52948573C>A uc003gzl.2 + 10 1654 c.1376C>A c.(1375-1377)TCG>TAG p.S459* SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Nonsense_Mutation_p.S427*|SPATA18_uc003gzk.1_Nonsense_Mutation_p.S459* NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 homolog 459 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCTACGACTCGGATTTCACT 0.448 7 114 --- --- --- --- PASS KIT 3815 broad.mit.edu 37 4 55594022 55594022 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:55594022T>A uc010igr.2 + 12 1895 c.1808T>A c.(1807-1809)GTT>GAT p.V603D KIT_uc010igs.2_Missense_Mutation_p.V599D|KIT_uc010igt.1_Missense_Mutation_p.V52D NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 603 ATP (By similarity).|Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TTCGGGAAGGTTGTTGAGGCA 0.493 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 19 58 --- --- --- --- PASS EXOC1 55763 broad.mit.edu 37 4 56736987 56736987 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:56736987G>T uc003hbe.1 + 6 905 c.747G>T c.(745-747)ATG>ATT p.M249I EXOC1_uc003hbf.1_Missense_Mutation_p.M249I|EXOC1_uc003hbg.1_Missense_Mutation_p.M249I NM_018261 NP_060731 Q9NV70 EXOC1_HUMAN exocyst complex component 1 isoform 1 249 Potential. exocytosis|protein transport exocyst protein binding ovary(2)|skin(2)|lung(1)|central_nervous_system(1) 6 Glioma(25;0.08)|all_neural(26;0.101) AAGAACAAATGGATCAGATCT 0.358 6 79 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56878050 56878050 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:56878050G>A uc003hbi.2 + 21 2935 c.2701G>A c.(2701-2703)GAG>AAG p.E901K CEP135_uc003hbj.2_Missense_Mutation_p.E607K NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 901 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) CCATCAAGCTGAGGGAGAAAG 0.398 11 73 --- --- --- --- PASS PPAT 5471 broad.mit.edu 37 4 57267592 57267592 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:57267592G>T uc003hbr.2 - 7 992 c.790C>A c.(790-792)CAA>AAA p.Q264K NM_002703 NP_002694 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 264 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding 0 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) TCAAGAGTTTGGACATTGTGT 0.348 12 423 --- --- --- --- PASS POLR2B 5431 broad.mit.edu 37 4 57887065 57887065 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:57887065G>T uc003hcl.1 + 17 2367 c.2324G>T c.(2323-2325)GGC>GTC p.G775V POLR2B_uc011cae.1_Missense_Mutation_p.G768V|POLR2B_uc011caf.1_Missense_Mutation_p.G700V|POLR2B_uc003hcm.1_Missense_Mutation_p.G268V NM_000938 NP_000929 P30876 RPB2_HUMAN DNA directed RNA polymerase II polypeptide B 775 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding ovary(2) 2 Glioma(25;0.08)|all_neural(26;0.181) TTCACTGCAGGCATCAACTCA 0.368 17 62 --- --- --- --- PASS TMPRSS11A 339967 broad.mit.edu 37 4 68789880 68789880 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:68789880C>A uc003hdr.1 - 6 616 c.495G>T c.(493-495)ATG>ATT p.M165I LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.M162I NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 165 SEA.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity skin(1) 1 TTGATGAGCTCATTGCTGAAA 0.328 9 254 --- --- --- --- PASS UGT2B7 7364 broad.mit.edu 37 4 69978240 69978240 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:69978240G>T uc003heg.3 + 6 1422 c.1376G>T c.(1375-1377)CGA>CTA p.R459L UGT2B7_uc010ihq.2_3'UTR NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 459 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 CCCCTGGATCGAGCAGTCTTC 0.398 6 123 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70146440 70146440 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:70146440C>A uc003hej.2 + 1 224 c.222C>A c.(220-222)CTC>CTA p.L74L UGT2B28_uc010ihr.2_Silent_p.L74L NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 74 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) CTCTTAAACTCGAAGTTTATC 0.373 7 164 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73154561 73154561 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:73154561T>C uc003hgk.1 - 21 2993 c.2956A>G c.(2956-2958)ACG>GCG p.T986A NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 986 TSP type-1 4. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CTCACCTCCGTTCCTTCACCG 0.473 5 22 --- --- --- --- PASS ADAMTS3 9508 broad.mit.edu 37 4 73188783 73188783 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:73188783C>A uc003hgk.1 - 6 930 c.893G>T c.(892-894)GGA>GTA p.G298V NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 298 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TATATGCACTCCGAGGGACTC 0.368 39 220 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 74124090 74124090 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:74124090C>T uc003hgp.2 - 1 413 c.296G>A c.(295-297)GGA>GAA p.G99E ANKRD17_uc003hgq.2_Missense_Mutation_p.G99E|ANKRD17_uc003hgr.2_Missense_Mutation_p.G99E NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 99 Gly-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) accgccgcctccaccgccgcc 0.403 8 21 --- --- --- --- PASS CNOT6L 246175 broad.mit.edu 37 4 78647416 78647416 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:78647416C>A uc011ccd.1 - 11 1491 c.1360G>T c.(1360-1362)GGA>TGA p.G454* CNOT6L_uc003hks.2_Nonsense_Mutation_p.G454*|CNOT6L_uc003hkt.1_Nonsense_Mutation_p.G297* NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 454 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 TCTGAGCTTCCATTCTTTCCA 0.403 8 194 --- --- --- --- PASS ABCG2 9429 broad.mit.edu 37 4 89052213 89052213 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:89052213C>T uc003hrg.2 - 5 1024 c.531G>A c.(529-531)AAG>AAA p.K177K ABCG2_uc003hrh.2_Silent_p.K177K|ABCG2_uc003hrf.2_Silent_p.K47K NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 177 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TCCACATTACCTTGGAGTCTG 0.408 43 140 --- --- --- --- PASS SMARCAD1 56916 broad.mit.edu 37 4 95201832 95201832 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:95201832G>T uc003htc.3 + 20 2763 c.2508G>T c.(2506-2508)CAG>CAT p.Q836H SMARCAD1_uc003htb.3_Missense_Mutation_p.Q838H|SMARCAD1_uc003htd.3_Missense_Mutation_p.Q838H|SMARCAD1_uc010ila.2_Missense_Mutation_p.Q701H|SMARCAD1_uc011cdw.1_Missense_Mutation_p.Q406H NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 836 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTGTAAACAGTACCGACACA 0.358 7 132 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104062989 104062989 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:104062989C>G uc003hxb.1 - 35 5471 c.5381G>C c.(5380-5382)AGA>ACA p.R1794T CENPE_uc003hxc.1_Missense_Mutation_p.R1769T|CENPE_uc003hxd.1_5'Flank NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1794 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) AACAATTCCTCTGAGTTTGTC 0.313 15 42 --- --- --- --- PASS LEF1 51176 broad.mit.edu 37 4 108999527 108999527 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:108999527T>C uc003hyt.1 - 8 1512 c.857A>G c.(856-858)CAT>CGT p.H286R LEF1_uc011cfj.1_Missense_Mutation_p.H143R|LEF1_uc011cfk.1_Missense_Mutation_p.H190R|LEF1_uc003hyu.1_Missense_Mutation_p.H258R|LEF1_uc003hyv.1_Missense_Mutation_p.H258R|LEF1_uc010imb.1_RNA|LEF1_uc010ima.1_5'UTR|LEF1_uc003hyw.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 286 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) TCTCTGTTCATGCTGAGGCTT 0.478 32 133 --- --- --- --- PASS SEC24B 10427 broad.mit.edu 37 4 110447381 110447381 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:110447381G>T uc003hzk.2 + 17 2847 c.2792_splice c.e17-1 p.G931_splice SEC24B_uc003hzl.2_Splice_Site_p.G896_splice|SEC24B_uc011cfp.1_Splice_Site_p.G961_splice|SEC24B_uc011cfq.1_Splice_Site_p.G930_splice|SEC24B_uc011cfr.1_Splice_Site_p.G895_splice NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CTCCTTTTTAGGTCTTTCAAT 0.338 8 121 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113524748 113524748 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:113524748C>A uc003iau.2 - 10 3119 c.2908G>T c.(2908-2910)GAG>TAG p.E970* C4orf21_uc003iaw.2_Nonsense_Mutation_p.E970* NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTTCATACTCAGTGCTATCT 0.403 6 57 --- --- --- --- PASS PDE5A 8654 broad.mit.edu 37 4 120488293 120488293 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:120488293C>A uc003idh.2 - 4 993 c.838G>T c.(838-840)GGT>TGT p.G280C PDE5A_uc003idf.2_Missense_Mutation_p.G238C|PDE5A_uc003idg.2_Missense_Mutation_p.G228C NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 280 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TGGGCTACACCAACAACCTGG 0.358 6 68 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247367 153247367 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:153247367G>T uc003ims.2 - 10 1584 c.1435C>A c.(1435-1437)CGA>AGA p.R479R FBXW7_uc011cii.1_Silent_p.R479R|FBXW7_uc003imt.2_Silent_p.R479R|FBXW7_uc011cih.1_Silent_p.R303R|FBXW7_uc003imq.2_Silent_p.R399R|FBXW7_uc003imr.2_Silent_p.R361R NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 479 WD 3. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R479Q(31)|p.R479L(6)|p.R479G(3) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GTGGCATCTCGAGAACCGCTA 0.398 Mis|N|D|F colorectal|endometrial|T-ALL 5 50 --- --- --- --- PASS FSTL5 56884 broad.mit.edu 37 4 162307405 162307405 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:162307405C>A uc003iqh.2 - 16 2474 c.2038G>T c.(2038-2040)GAC>TAC p.D680Y FSTL5_uc003iqi.2_Missense_Mutation_p.D679Y|FSTL5_uc010iqv.2_Missense_Mutation_p.D670Y|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 680 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GTTACACCGTCCACCATGACC 0.498 6 29 --- --- --- --- PASS CDKN2AIP 55602 broad.mit.edu 37 4 184367326 184367326 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:184367326C>A uc003ivp.1 + 3 651 c.489C>A c.(487-489)GCC>GCA p.A163A CDKN2AIP_uc003ivq.1_5'UTR NM_017632 NP_060102 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 163 negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding 0 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) AAACCTCTGCCAAGACAGAAC 0.453 6 57 --- --- --- --- PASS RWDD4A 201965 broad.mit.edu 37 4 184570716 184570716 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:184570716C>A uc003ivt.1 - 5 595 c.369G>T c.(367-369)TCG>TCT p.S123S RWDD4A_uc003ivu.1_RNA|RWDD4A_uc003ivv.1_Silent_p.S60S|RWDD4A_uc011ckl.1_RNA NM_152682 NP_689895 Q6NW29 RWDD4_HUMAN RWD domain containing 4A 123 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;7.35e-27)|Epithelial(43;1.49e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.76e-10)|GBM - Glioblastoma multiforme(59;5.54e-06)|Colorectal(24;7.92e-06)|STAD - Stomach adenocarcinoma(60;2.35e-05)|COAD - Colon adenocarcinoma(29;6.26e-05)|LUSC - Lung squamous cell carcinoma(40;0.00935)|READ - Rectum adenocarcinoma(43;0.166) TATTGCTTATCGATGTCTAAA 0.333 6 99 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187539950 187539950 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:187539950C>A uc003izf.2 - 10 7978 c.7790G>T c.(7789-7791)CGA>CTA p.R2597L NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2597 Extracellular (Potential).|Cadherin 24. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTTGGTTGCTCGAAATTGTGG 0.463 HNSCC(5;0.00058) 4 27 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541593 187541593 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr4:187541593C>A uc003izf.2 - 10 6335 c.6147G>T c.(6145-6147)GTG>GTT p.V2049V NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2049 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CTTCTACAACCACATCAAACG 0.498 HNSCC(5;0.00058) 7 108 --- --- --- --- PASS C5orf49 134121 broad.mit.edu 37 5 7832092 7832092 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:7832092G>T uc003jea.3 - 3 445 c.315C>A c.(313-315)CGC>CGA p.R105R NM_001089584 NP_001083053 A4QMS7 CE049_HUMAN hypothetical protein LOC134121 105 0 GCTGATTGATGCGCTTCCCAT 0.542 17 52 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24505300 24505300 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:24505300A>C uc003jgr.1 - 8 1646 c.1314T>G c.(1312-1314)AAT>AAG p.N438K CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 438 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAAGAGATCCATTTCCTGAAT 0.358 HNSCC(23;0.051) 8 50 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24505301 24505301 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:24505301T>A uc003jgr.1 - 8 1645 c.1313A>T c.(1312-1314)AAT>ATT p.N438I CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 438 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAGAGATCCATTTCCTGAATG 0.353 HNSCC(23;0.051) 8 49 --- --- --- --- PASS TTC23L 153657 broad.mit.edu 37 5 34850335 34850335 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:34850335C>A uc003jiu.2 + 4 404 c.301C>A c.(301-303)CGG>AGG p.R101R NM_144725 NP_653326 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 101 binding central_nervous_system(1) 1 CATCCTTTCTCGGATTATTTT 0.453 6 126 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43508755 43508755 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:43508755C>A uc003jnz.1 - 4 526 c.209G>T c.(208-210)CGA>CTA p.R70L C5orf34_uc011cpx.1_5'UTR NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 70 breast(1) 1 Lung NSC(6;2.07e-05) ATCTAGGGCTCGCTGTAGTTG 0.294 5 129 --- --- --- --- PASS ERCC8 1161 broad.mit.edu 37 5 60194165 60194165 + Missense_Mutation SNP G T T rs141137570 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:60194165G>T uc003jsm.3 - 9 851 c.781C>A c.(781-783)CTC>ATC p.L261I ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.L203I|ERCC8_uc011cqp.1_Missense_Mutation_p.L108I NM_000082 NP_000073 Q13216 ERCC8_HUMAN excision repair cross-complementing rodent 261 WD 4. positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding 0 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) CCAACAGTGAGGAGGTGAAGT 0.343 Direct_reversal_of_damage|NER 6 62 --- --- --- --- PASS SLC30A5 64924 broad.mit.edu 37 5 68400543 68400543 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:68400543G>T uc003jvh.2 + 4 560 c.359G>T c.(358-360)AGG>ATG p.R120M SLC30A5_uc003jvg.2_3'UTR|SLC30A5_uc011crc.1_RNA|SLC30A5_uc003jvi.2_Intron NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 120 Extracellular (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GGACCACTAAGGTAAATAAAA 0.299 8 136 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70757682 70757682 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:70757682G>C uc003kbp.1 + 3 791 c.528G>C c.(526-528)CAG>CAC p.Q176H BDP1_uc003kbn.1_Missense_Mutation_p.Q176H|BDP1_uc003kbo.2_Missense_Mutation_p.Q176H NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 176 Interaction with ZBTB43.|Potential. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) ATGAAAGTCAGAGGCCACCAG 0.279 4 120 --- --- --- --- PASS POLK 51426 broad.mit.edu 37 5 74892392 74892392 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:74892392C>A uc003kdw.2 + 13 1970 c.1874C>A c.(1873-1875)CCT>CAT p.P625H POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.P427H|POLK_uc003kec.2_Missense_Mutation_p.P535H|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.P535H NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 625 UBZ-type 1. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) CTTACCTGTCCTGTTTGCTTT 0.373 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 130 --- --- --- --- PASS PDE8B 8622 broad.mit.edu 37 5 76621451 76621451 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:76621451C>A uc003kfa.2 + 3 532 c.487C>A c.(487-489)CGG>AGG p.R163R PDE8B_uc003kfb.2_Silent_p.R143R|PDE8B_uc003kfc.2_Silent_p.R163R|PDE8B_uc003kfd.2_Silent_p.R163R|PDE8B_uc003kfe.2_Silent_p.R163R NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 163 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CAATATTGCTCGGACTCCAGA 0.433 5 91 --- --- --- --- PASS THBS4 7060 broad.mit.edu 37 5 79335928 79335928 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:79335928G>T uc003kgh.2 + 3 440 c.117G>T c.(115-117)CAG>CAT p.Q39H NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 39 TSP N-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CTTCCAGTCAGAGGCTAAACC 0.483 7 103 --- --- --- --- PASS SPZ1 84654 broad.mit.edu 37 5 79617057 79617057 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:79617057C>A uc003kgn.2 + 1 1268 c.1023C>A c.(1021-1023)CTC>CTA p.L341L uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 341 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TCAAGGAACTCCATCATCAGA 0.398 7 78 --- --- --- --- PASS MSH3 4437 broad.mit.edu 37 5 80063922 80063922 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:80063922C>A uc003kgz.2 + 14 2320 c.2067C>A c.(2065-2067)CTC>CTA p.L689L NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 689 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TAAAGATACTCAATGAACAAG 0.398 MMR 7 59 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82816290 82816290 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:82816290C>A uc003kii.3 + 7 2521 c.2165C>A c.(2164-2166)TCT>TAT p.S722Y VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.S722Y|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 722 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAAGTCTTCTCTGGGATGAAA 0.363 6 37 --- --- --- --- PASS MEF2C 4208 broad.mit.edu 37 5 88027589 88027589 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:88027589C>A uc003kjj.2 - 7 1440 c.767G>T c.(766-768)CGA>CTA p.R256L MEF2C_uc003kji.2_Missense_Mutation_p.R256L|MEF2C_uc003kjk.2_Missense_Mutation_p.R256L|MEF2C_uc003kjm.2_Missense_Mutation_p.R254L|MEF2C_uc003kjl.2_Missense_Mutation_p.R274L NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 256 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) AATAAGAACTCGGAGATCTGG 0.378 HNSCC(66;0.2) 5 55 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90001286 90001286 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:90001286G>T uc003kju.2 + 37 8552 c.8456G>T c.(8455-8457)AGT>ATT p.S2819I GPR98_uc003kjt.2_Missense_Mutation_p.S525I|GPR98_uc003kjv.2_Missense_Mutation_p.S419I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2819 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GTAGAAGCCAGTGATGAACCA 0.413 6 129 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95757591 95757591 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:95757591C>A uc003kls.1 - 5 819 c.613G>T c.(613-615)GAG>TAG p.E205* NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 205 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CACTTGTTCTCGTTTGTGGGA 0.338 7 161 --- --- --- --- PASS CAST 831 broad.mit.edu 37 5 96076486 96076486 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:96076486C>A uc003klz.1 + 11 830 c.668C>A c.(667-669)TCG>TAG p.S223* CAST_uc003klt.2_Intron|CAST_uc003klu.2_Nonsense_Mutation_p.S306*|CAST_uc003klv.2_Nonsense_Mutation_p.S284*|CAST_uc003klw.2_Nonsense_Mutation_p.S287*|CAST_uc003klx.2_Nonsense_Mutation_p.S265*|CAST_uc003kly.2_Intron|CAST_uc011cuo.1_Nonsense_Mutation_p.S269*|CAST_uc011cuq.1_Nonsense_Mutation_p.S71*|CAST_uc011cur.1_Nonsense_Mutation_p.S209*|CAST_uc011cus.1_Intron|CAST_uc003kma.1_Nonsense_Mutation_p.S182*|CAST_uc011cut.1_Nonsense_Mutation_p.S151*|CAST_uc003kmb.2_Intron|CAST_uc003kmc.2_Nonsense_Mutation_p.S223*|CAST_uc003kmd.2_Nonsense_Mutation_p.S201*|CAST_uc003kme.2_Nonsense_Mutation_p.S182*|CAST_uc003kmf.2_Intron|CAST_uc003kmh.2_5'Flank|CAST_uc010jbj.2_5'Flank|CAST_uc010jbk.2_5'Flank|CAST_uc010jbl.1_5'Flank|CAST_uc003kmi.2_5'Flank|CAST_uc003kmj.2_5'Flank NM_001042443 NP_001035908 P20810 ICAL_HUMAN calpastatin isoform i 223 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) GCAGACTCTTCGGTGAGTTTA 0.348 5 88 --- --- --- --- PASS CHD1 1105 broad.mit.edu 37 5 98194017 98194017 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:98194017G>T uc003knf.2 - 34 4802 c.4654C>A c.(4654-4656)CAG>AAG p.Q1552K CHD1_uc010jbn.2_Missense_Mutation_p.Q278K NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1552 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) TCATGGTACTGAGTTAAGTGT 0.353 7 114 --- --- --- --- PASS NUDT12 83594 broad.mit.edu 37 5 102894709 102894709 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:102894709C>A uc003koi.2 - 3 760 c.667G>T c.(667-669)GGA>TGA p.G223* NUDT12_uc011cvb.1_Nonsense_Mutation_p.G205* NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 223 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GCAACCAATCCATCTTCCTCC 0.408 6 61 --- --- --- --- PASS FAM13B 51306 broad.mit.edu 37 5 137346823 137346823 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:137346823C>A uc003lbz.2 - 6 1098 c.564G>T c.(562-564)GTG>GTT p.V188V FAM13B_uc003lcb.2_Silent_p.V70V|FAM13B_uc003lca.2_Silent_p.V188V NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 188 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TCATGTCTTCCACATCTGTGT 0.333 7 90 --- --- --- --- PASS KIF20A 10112 broad.mit.edu 37 5 137519972 137519972 + Missense_Mutation SNP G T T rs112052250 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:137519972G>T uc003lcj.2 + 12 1893 c.1397G>T c.(1396-1398)CGA>CTA p.R466L KIF20A_uc011cyo.1_Missense_Mutation_p.R448L NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 466 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAGTTGACTCGAGTGTTCCAA 0.493 7 120 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139818072 139818072 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:139818072G>T uc003lfs.1 + 3 611 c.487G>T c.(487-489)GGT>TGT p.G163C ANKHD1_uc003lfq.1_Missense_Mutation_p.G163C|ANKHD1_uc003lfr.2_Missense_Mutation_p.G163C|ANKHD1_uc003lfp.2_Intron|ANKHD1_uc003lfo.2_Missense_Mutation_p.G163C|ANKHD1_uc010jfk.2_Missense_Mutation_p.G163C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 163 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTGCTGATGGTAAAGCTTT 0.413 7 135 --- --- --- --- PASS HARS2 23438 broad.mit.edu 37 5 140073541 140073541 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:140073541C>A uc003lgx.2 + 3 421 c.205C>A c.(205-207)CAG>AAG p.Q69K HARS_uc003lgv.2_5'Flank|HARS_uc011czm.1_5'Flank|HARS_uc003lgw.2_5'Flank|HARS_uc011czn.1_5'Flank|HARS_uc010jfu.2_5'Flank|HARS_uc011czo.1_5'Flank|HARS_uc011czp.1_5'Flank|HARS_uc011czq.1_5'Flank|HARS2_uc010jfv.1_5'UTR|HARS2_uc011czr.1_Missense_Mutation_p.Q44K|HARS2_uc011czs.1_5'UTR|HARS2_uc011czt.1_Intron|HARS2_uc011czu.1_5'Flank NM_012208 NP_036340 P49590 SYHM_HUMAN histidyl-tRNA synthetase 2 precursor 69 histidyl-tRNA aminoacylation mitochondrial matrix ATP binding|histidine-tRNA ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTAGTCCTCAGCATATGGT 0.413 10 181 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140180986 140180986 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:140180986C>A uc003lhf.2 + 1 204 c.204C>A c.(202-204)TCC>TCA p.S68S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.S68S NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 68 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGCGTCCAAAAGACACG 0.622 6 62 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604377 140604377 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:140604377G>T uc003ljb.2 + 1 1300 c.1300G>T c.(1300-1302)GAG>TAG p.E434* PCDHB14_uc011dal.1_Nonsense_Mutation_p.E281* NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 434 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGAAAACCGAGTACAACAT 0.537 6 64 --- --- --- --- PASS SLU7 10569 broad.mit.edu 37 5 159841435 159841435 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:159841435C>A uc003lyg.2 - 3 370 c.215G>T c.(214-216)TGG>TTG p.W72L SLU7_uc003lyh.1_Missense_Mutation_p.W72L|SLU7_uc003lyi.1_Missense_Mutation_p.W72L NM_006425 NP_006416 O95391 SLU7_HUMAN step II splicing factor SLU7 72 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ATCAATATACCATGGCACTGA 0.333 7 128 --- --- --- --- PASS GABRA1 2554 broad.mit.edu 37 5 161281215 161281215 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:161281215C>T uc010jiw.2 + 4 594 c.126C>T c.(124-126)TTC>TTT p.F42F GABRA1_uc010jix.2_Silent_p.F42F|GABRA1_uc010jiy.2_Silent_p.F42F|GABRA1_uc003lyx.3_Silent_p.F42F|GABRA1_uc010jiz.2_Silent_p.F42F|GABRA1_uc010jja.2_Silent_p.F42F|GABRA1_uc010jjb.2_Silent_p.F42F NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 42 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCACTGTCTTCACCAGGATTT 0.358 27 71 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167630837 167630837 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:167630837G>T uc010jjd.2 + 18 3547 c.3547G>T c.(3547-3549)GGA>TGA p.G1183* ODZ2_uc003lzr.3_Nonsense_Mutation_p.G960*|ODZ2_uc003lzt.3_Nonsense_Mutation_p.G556*|ODZ2_uc010jje.2_Nonsense_Mutation_p.G454* NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) TGTTAAAAGTGGTACGTGAAC 0.517 7 109 --- --- --- --- PASS DRD1 1812 broad.mit.edu 37 5 174869505 174869505 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:174869505C>A uc003mcz.2 - 2 1543 c.598G>T c.(598-600)GTA>TTA p.V200L NM_000794 NP_000785 P21728 DRD1_HUMAN dopamine receptor D1 200 Helical; Name=5; (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding ovary(2)|skin(1) 3 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) AAGCTTATTACAGAGGATGAG 0.498 6 98 --- --- --- --- PASS F12 2161 broad.mit.edu 37 5 176830259 176830259 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:176830259G>T uc003mgo.3 - 12 1576 c.1527C>A c.(1525-1527)TTC>TTA p.F509L PFN3_uc003mgl.2_5'Flank|F12_uc011dfy.1_Nonsense_Mutation_p.S40*|F12_uc003mgn.3_Nonsense_Mutation_p.S40*|F12_uc010jkl.2_RNA NM_000505 NP_000496 P00748 FA12_HUMAN coagulation factor XII precursor 509 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity 0 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) GCCTACCCTCGAACTGGTGGC 0.667 Hereditary_Angioedema 4 32 --- --- --- --- PASS COL23A1 91522 broad.mit.edu 37 5 177715338 177715338 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr5:177715338C>A uc003mje.2 - 5 786 c.428G>T c.(427-429)CGA>CTA p.R143L NM_173465 NP_775736 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 143 Extracellular (Potential).|Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding central_nervous_system(1)|skin(1) 2 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) GTAGCCATCTCGTCCTGATTG 0.418 5 108 --- --- --- --- PASS EXOC2 55770 broad.mit.edu 37 6 562806 562806 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:562806T>A uc003mtd.2 - 17 1963 c.1829A>T c.(1828-1830)GAC>GTC p.D610V EXOC2_uc003mte.2_Missense_Mutation_p.D610V|EXOC2_uc011dho.1_Missense_Mutation_p.D205V NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 610 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TCCTTCATTGTCAACAATCCA 0.259 9 50 --- --- --- --- PASS PRPF4B 8899 broad.mit.edu 37 6 4031871 4031871 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:4031871C>A uc003mvv.2 + 2 211 c.120C>A c.(118-120)CAC>CAA p.H40Q PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 40 His-rich.|Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) AAAATAAGCACAGTCGTCACa 0.179 6 70 --- --- --- --- PASS PRPF4B 8899 broad.mit.edu 37 6 4032230 4032230 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:4032230C>A uc003mvv.2 + 2 570 c.479C>A c.(478-480)TCT>TAT p.S160Y PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 160 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) GGAAATAGGTCTAGTACTAGA 0.403 7 84 --- --- --- --- PASS TXNDC5 81567 broad.mit.edu 37 6 7888999 7888999 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:7888999G>T uc003mxv.2 - 7 934 c.902C>A c.(901-903)GCG>GAG p.A301E TXNDC5_uc003mxw.2_Missense_Mutation_p.A258E|TXNDC5_uc010jnz.2_Missense_Mutation_p.A193E|TXNDC5_uc010joa.1_Missense_Mutation_p.A193E NM_030810 NP_110437 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 1 301 anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) GGTCTCCGTCGCTCCAGTCTC 0.642 5 54 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12122673 12122673 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:12122673G>T uc003nac.2 + 4 2824 c.2645G>T c.(2644-2646)GGA>GTA p.G882V HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 882 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TTTGTATCGGGACCTAACGCT 0.453 6 65 --- --- --- --- PASS MRS2 57380 broad.mit.edu 37 6 24423172 24423172 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:24423172G>A uc003neb.2 + 10 1237 c.1115G>A c.(1114-1116)AGA>AAA p.R372K MRS2_uc003nea.2_Missense_Mutation_p.R372K|MRS2_uc011djl.1_Missense_Mutation_p.R375K|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.R322K|MRS2_uc003nec.2_Missense_Mutation_p.R249K NM_020662 NP_065713 Q9HD23 MRS2_HUMAN MRS2-like, magnesium homeostasis factor 372 Mitochondrial intermembrane (Potential). ion transport integral to membrane|mitochondrial inner membrane 0 TAGGACCATAGAATTTTTTGG 0.443 33 82 --- --- --- --- PASS BTN3A1 11119 broad.mit.edu 37 6 26410260 26410260 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:26410260C>A uc003nhv.2 + 7 1332 c.964C>A c.(964-966)CGG>AGG p.R322R BTN3A1_uc011dkj.1_Silent_p.R322R|BTN3A1_uc011dkk.1_Silent_p.R270R|BTN3A1_uc010jqj.2_Silent_p.R322R NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 322 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 GTATGCATCTCGTAAGTGCCT 0.463 5 103 --- --- --- --- PASS BTN1A1 696 broad.mit.edu 37 6 26506973 26506973 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:26506973G>T uc003nif.3 + 4 792 c.772G>T c.(772-774)GGA>TGA p.G258* NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 258 Helical; (Potential). extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GATGGTTCTAGGACTTCTCAC 0.448 8 182 --- --- --- --- PASS GPX6 257202 broad.mit.edu 37 6 28472238 28472238 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:28472238G>T uc011dlj.1 - 6 547 c.497C>A c.(496-498)TCA>TAA p.S166* GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 166 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) GAGTTGGCTTGATGAGCCCAA 0.458 9 38 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054191 29054191 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:29054191C>A uc003nlx.2 - 1 900 c.835G>T c.(835-837)GGA>TGA p.G279* NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 GTGATGATTCCATAGAAGAGG 0.418 6 54 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29365200 29365200 + Missense_Mutation SNP T A A rs61742210 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:29365200T>A uc003nmf.3 + 1 785 c.724T>A c.(724-726)TCC>ACC p.S242T NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CACTTGTGCCTCCCACTTCAT 0.433 13 107 --- --- --- --- PASS ZFP57 346171 broad.mit.edu 37 6 29640398 29640398 + Nonsense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:29640398C>T uc011dlw.1 - 4 1641 c.1490G>A c.(1489-1491)TGG>TAG p.W497* ZFP57_uc003nnl.3_Nonsense_Mutation_p.W477* NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN zinc finger protein 57 homolog 413 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding ovary(3)|skin(2) 5 TCCATGCTTCCATTCCTCCCC 0.567 6 28 --- --- --- --- PASS PPP1R10 5514 broad.mit.edu 37 6 30572489 30572489 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:30572489C>A uc003nqn.1 - 12 1530 c.978G>T c.(976-978)ACG>ACT p.T326T PPP1R10_uc010jsc.1_Intron NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 326 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding ovary(2)|lung(1)|kidney(1) 4 GTTCTGTGCTCGTTTTCCCTT 0.542 7 148 --- --- --- --- PASS MDC1 9656 broad.mit.edu 37 6 30672302 30672302 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:30672302G>A uc003nrg.3 - 10 5098 c.4658C>T c.(4657-4659)TCT>TTT p.S1553F MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S1160F NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1553 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 AGTGGCCCGAGATGTGGGCTC 0.577 Other_conserved_DNA_damage_response_genes 17 82 --- --- --- --- PASS LST1 7940 broad.mit.edu 37 6 31556510 31556510 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:31556510G>T uc003num.2 + 5 572 c.350G>T c.(349-351)AGC>ATC p.S117I LST1_uc003nun.2_3'UTR|LST1_uc003nuo.2_Missense_Mutation_p.S62I|LST1_uc003nup.2_3'UTR|LST1_uc003nuq.2_Missense_Mutation_p.S72I|LST1_uc010jsx.2_RNA|LST1_uc003nuu.2_RNA|LST1_uc003nut.2_RNA|LST1_uc010jsw.2_Missense_Mutation_p.S108I NM_007161 NP_009092 O00453 LST1_HUMAN leukocyte specific transcript 1 isoform 1 Error:Variant_position_missing_in_O00453_after_alignment cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape Golgi membrane|integral to membrane protein binding 0 CTGTGGTCCAGCCAGTAAAAA 0.532 4 7 --- --- --- --- PASS B3GALT4 8705 broad.mit.edu 37 6 33245953 33245953 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:33245953C>A uc003odr.2 + 1 1037 c.757C>A c.(757-759)CAC>AAC p.H253N NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 253 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 GCAGTGGCCTCACACCTGGGG 0.657 6 27 --- --- --- --- PASS ANKS1A 23294 broad.mit.edu 37 6 34937797 34937797 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:34937797G>T uc003ojx.3 + 3 431 c.289G>T c.(289-291)GAG>TAG p.E97* ANKS1A_uc011dss.1_Nonsense_Mutation_p.E97*|ANKS1A_uc011dst.1_5'UTR|ANKS1A_uc010jvp.1_5'UTR|ANKS1A_uc010jvq.1_RNA|ANKS1A_uc010jvr.1_5'Flank NM_015245 NP_056060 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain 97 ANK 1. cytoplasm protein binding ovary(3)|upper_aerodigestive_tract(1) 4 GGATGTGGTCGAGGTTCTTCT 0.493 5 68 --- --- --- --- PASS TCP11 6954 broad.mit.edu 37 6 35088735 35088735 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:35088735G>T uc003okd.2 - 6 886 c.705C>A c.(703-705)TCC>TCA p.S235S TCP11_uc003ojz.1_Silent_p.S160S|TCP11_uc003oka.2_Silent_p.S160S|TCP11_uc003okb.2_Silent_p.S159S|TCP11_uc003okc.2_Silent_p.S159S|TCP11_uc011dsu.1_Silent_p.S217S|TCP11_uc011dsv.1_Silent_p.S184S|TCP11_uc011dsw.1_Silent_p.S189S NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 222 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 CATACTGAATGGAATGTTCCT 0.493 8 171 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38819390 38819390 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:38819390T>C uc003ooe.1 + 37 5355 c.4755T>C c.(4753-4755)TTT>TTC p.F1585F NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GATTCTTCTTTGTATCTGATC 0.363 10 47 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38851097 38851097 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:38851097G>T uc003ooe.1 + 53 7951 c.7351_splice c.e53-1 p.A2451_splice NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATGATTGCAGGCTGTTTTGC 0.333 25 97 --- --- --- --- PASS SPATS1 221409 broad.mit.edu 37 6 44328258 44328258 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:44328258C>A uc003oxk.2 + 3 710 c.363C>A c.(361-363)GTC>GTA p.V121V SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Silent_p.V6V NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 121 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGCCTGAAGTCCAAAAGGATA 0.468 21 68 --- --- --- --- PASS PLA2G7 7941 broad.mit.edu 37 6 46672348 46672348 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:46672348G>T uc010jzf.2 - 12 1544 c.1275C>A c.(1273-1275)ACC>ACA p.T425T NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 425 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) TGTGTTGATTGGTTGTGTTAA 0.308 7 86 --- --- --- --- PASS MUT 4594 broad.mit.edu 37 6 49407971 49407971 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:49407971G>T uc003ozg.3 - 11 2159 c.1904C>A c.(1903-1905)GCT>GAT p.A635D NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 635 B12-binding. fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAATCCTGTAGCAATAACTTT 0.418 6 100 --- --- --- --- PASS CRISP3 10321 broad.mit.edu 37 6 49700998 49700998 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:49700998C>A uc003ozs.2 - 6 446 c.431G>T c.(430-432)TGG>TTG p.W144L NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 144 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGAAGAGTACCAAACAACCTA 0.338 8 105 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51503701 51503701 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:51503701C>A uc003pah.1 - 64 11728 c.11452G>T c.(11452-11454)GTC>TTC p.V3818F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3818 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GAGATCAAGACTGCCAAGTTG 0.343 8 192 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51732720 51732720 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:51732720C>A uc003pah.1 - 48 7950 c.7674G>T c.(7672-7674)CGG>CGT p.R2558R PKHD1_uc010jzn.1_Silent_p.R541R|PKHD1_uc003pai.2_Silent_p.R2558R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2558 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CATGGACAACCCGACCAAAGC 0.433 7 28 --- --- --- --- PASS EFHC1 114327 broad.mit.edu 37 6 52303306 52303306 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:52303306C>A uc003pap.3 + 3 705 c.490C>A c.(490-492)CAT>AAT p.H164N EFHC1_uc011dwv.1_Missense_Mutation_p.H73N|EFHC1_uc011dww.1_Missense_Mutation_p.H145N NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 164 DM10 1. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) TGACCATTACCATTGGAAAGA 0.408 7 78 --- --- --- --- PASS ZNF451 26036 broad.mit.edu 37 6 56997877 56997877 + Missense_Mutation SNP T G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:56997877T>G uc003pdm.1 + 6 686 c.462T>G c.(460-462)AGT>AGG p.S154R ZNF451_uc003pdl.2_Missense_Mutation_p.S154R|ZNF451_uc003pdn.1_Missense_Mutation_p.S154R|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.S154R NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GAACAAAAAGTTCATTCCGAA 0.398 15 54 --- --- --- --- PASS LGSN 51557 broad.mit.edu 37 6 63990650 63990650 + Missense_Mutation SNP G C C rs150005648 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:63990650G>C uc003peh.2 - 4 840 c.806C>G c.(805-807)TCT>TGT p.S269C LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 269 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) AGGCAGGAAAGAGATTTCCAT 0.453 7 30 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70894801 70894801 + Silent SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:70894801A>G uc003pfc.1 + 46 2967 c.2850A>G c.(2848-2850)GGA>GGG p.G950G NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 950 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 GCCCCAAAGGAGAACGTGTAT 0.403 3 36 --- --- --- --- PASS FILIP1 27145 broad.mit.edu 37 6 76022793 76022793 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:76022793C>A uc003pia.2 - 5 3128 c.2755G>T c.(2755-2757)GAG>TAG p.E919* FILIP1_uc003phy.1_Nonsense_Mutation_p.E919*|FILIP1_uc003phz.2_Nonsense_Mutation_p.E820*|FILIP1_uc010kbe.2_Nonsense_Mutation_p.E922*|FILIP1_uc003pib.1_Nonsense_Mutation_p.E671* NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 919 skin(3)|ovary(1) 4 GTGCTGTTCTCGTGGTCTGGT 0.498 5 77 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76660389 76660389 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:76660389C>G uc003pik.1 - 13 1844 c.1714G>C c.(1714-1716)GAG>CAG p.E572Q NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 572 SEA 2. visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) ACTACCAGCTCTCGGCCCTTG 0.483 12 36 --- --- --- --- PASS PHIP 55023 broad.mit.edu 37 6 79650528 79650528 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:79650528G>T uc003pir.2 - 40 5574 c.5348C>A c.(5347-5349)TCT>TAT p.S1783Y PHIP_uc003piq.2_Missense_Mutation_p.S807Y|PHIP_uc011dyp.1_Missense_Mutation_p.S1782Y|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.S669Y NM_017934 NP_060404 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1783 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 6 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) CTCCTCTTCAGAGTCATCCTC 0.423 13 500 --- --- --- --- PASS UBE2CBP 90025 broad.mit.edu 37 6 83754351 83754351 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:83754351C>A uc003pjp.2 - 4 501 c.393G>T c.(391-393)CCG>CCT p.P131P UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Silent_p.P99P NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 131 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) AGTTCTCACTCGGCAGTGGGA 0.408 5 99 --- --- --- --- PASS NT5E 4907 broad.mit.edu 37 6 86201765 86201765 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:86201765C>A uc003pko.3 + 8 1987 c.1431C>A c.(1429-1431)ACC>ACA p.T477T NT5E_uc010kbr.2_Silent_p.T427T NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 477 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) TTCTTTGCACCAAGTGTCGAG 0.443 6 122 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90371226 90371226 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:90371226C>A uc003pnn.1 - 88 14753 c.14637G>T c.(14635-14637)TTG>TTT p.L4879F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4879 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CTGGAAGGTCCAAAGCCTCGG 0.478 7 93 --- --- --- --- PASS POPDC3 64208 broad.mit.edu 37 6 105609377 105609377 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:105609377A>T uc003prb.2 - 2 810 c.408T>A c.(406-408)GTT>GTA p.V136V uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron NM_022361 NP_071756 Q9HBV1 POPD3_HUMAN popeye protein 3 136 integral to membrane skin(3)|ovary(2) 5 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TTTCCAAAGTAACCACTTCAG 0.463 13 70 --- --- --- --- PASS SCML4 256380 broad.mit.edu 37 6 108067950 108067950 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:108067950G>C uc010kdf.2 - 4 681 c.430C>G c.(430-432)CAG>GAG p.Q144E SCML4_uc003prz.3_Missense_Mutation_p.Q86E|SCML4_uc011eam.1_Missense_Mutation_p.Q144E|SCML4_uc003psa.3_Missense_Mutation_p.Q115E NM_198081 NP_932347 Q8N228 SCML4_HUMAN sex comb on midleg-like 4 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) AGCTTCTGCTGGTGGGCGCAG 0.632 9 41 --- --- --- --- PASS REV3L 5980 broad.mit.edu 37 6 111632452 111632452 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:111632452C>A uc003puy.3 - 29 8938 c.8615G>T c.(8614-8616)CGT>CTT p.R2872L REV3L_uc003pux.3_Missense_Mutation_p.R2794L|REV3L_uc003puz.3_Missense_Mutation_p.R2794L|REV3L_uc003pva.1_RNA|REV3L_uc003puw.3_5'Flank NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2872 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTTAGAGAACGCTCAAGTAT 0.328 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 7 169 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112471822 112471822 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:112471822A>T uc003pvu.2 - 17 2373 c.2064T>A c.(2062-2064)GAT>GAA p.D688E LAMA4_uc003pvv.2_Missense_Mutation_p.D681E|LAMA4_uc003pvt.2_Missense_Mutation_p.D681E NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 688 Domain II and I.|Potential. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCACTGCTTCATCACTGCCTG 0.488 9 73 --- --- --- --- PASS NT5DC1 221294 broad.mit.edu 37 6 116544293 116544293 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:116544293C>A uc003pwj.2 + 8 896 c.801C>A c.(799-801)CTC>CTA p.L267L NT5DC1_uc003pwk.2_Silent_p.L259L|NT5DC1_uc003pwl.2_Silent_p.L217L NM_152729 NP_689942 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase, cytosolic II-like 1 protein 267 hydrolase activity|metal ion binding 0 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) TCCGGACACTCGGTAAGTTAC 0.408 5 87 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117638307 117638307 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:117638307G>T uc003pxp.1 - 38 6333 c.6134C>A c.(6133-6135)ACG>AAG p.T2045K ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2045 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ACTGCCTACCGTTGCCATCCG 0.408 T GOPC|ROS1 glioblastoma|NSCLC 5 118 --- --- --- --- PASS ASF1A 25842 broad.mit.edu 37 6 119222018 119222018 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:119222018C>A uc011ebn.1 + 2 534 c.197C>A c.(196-198)CCC>CAC p.P66H NM_014034 NP_054753 Q9Y294 ASF1A_HUMAN ASF1 anti-silencing function 1 homolog A 66 Interaction with histone H3, CHAF1B, and HIRA. chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent chromatin remodeling complex chromatin binding|histone binding 0 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188) GGTCCTGTTCCCGCAGGAAGG 0.343 8 170 --- --- --- --- PASS HSF2 3298 broad.mit.edu 37 6 122743330 122743330 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:122743330G>T uc003pyu.2 + 8 904 c.717G>T c.(715-717)AGG>AGT p.R239S HSF2_uc003pyv.2_Missense_Mutation_p.R239S NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 239 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TAAAGCCAAGGGAGAGGATTT 0.313 8 117 --- --- --- --- PASS ARHGAP18 93663 broad.mit.edu 37 6 129959562 129959562 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:129959562G>T uc003qbr.2 - 3 618 c.529C>A c.(529-531)CAA>AAA p.Q177K ARHGAP18_uc011ebw.1_Missense_Mutation_p.Q177K NM_033515 NP_277050 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 177 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) TCTCTCTGTTGAGCAAATATG 0.378 8 143 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132171156 132171156 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:132171156G>T uc011ecf.1 + 3 360 c.340G>T c.(340-342)GAG>TAG p.E114* NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 114 SMB 1.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TCGCTGTTTCGAGAGAACATT 0.383 7 91 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132203589 132203589 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:132203589G>T uc011ecf.1 + 21 2225 c.2205G>T c.(2203-2205)GTG>GTT p.V735V NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 735 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) ACACCAAAGTGAGTTACGGGT 0.383 7 115 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597355 136597355 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:136597355G>T uc003qgx.1 - 5 1561 c.1308C>A c.(1306-1308)CTC>CTA p.L436L BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.L434L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L434L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 436 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTTGTACTTGAGTCCTTCCT 0.393 8 178 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597415 136597415 + Silent SNP G T T rs144315600 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:136597415G>T uc003qgx.1 - 5 1501 c.1248C>A c.(1246-1248)CTC>CTA p.L416L BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.L414L|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.L414L NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 416 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTGATCTGCGAGGACTGACT 0.418 8 250 --- --- --- --- PASS HEBP2 23593 broad.mit.edu 37 6 138727204 138727204 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:138727204C>A uc003qhw.1 + 3 632 c.335C>A c.(334-336)CCC>CAC p.P112H NM_014320 NP_055135 Q9Y5Z4 HEBP2_HUMAN heme binding protein 2 112 mitochondrion 0 Breast(32;0.0933) GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171) CTGTATATTCCCTCTGAACAG 0.428 8 95 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148865881 148865881 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:148865881A>T uc003qme.1 + 18 3750 c.3275A>T c.(3274-3276)GAT>GTT p.D1092V SASH1_uc011eeb.1_Missense_Mutation_p.D853V|SASH1_uc003qmf.1_Missense_Mutation_p.D502V NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1092 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGGGGAGTGGATCTAGAAACG 0.587 4 6 --- --- --- --- PASS KATNA1 11104 broad.mit.edu 37 6 149959644 149959644 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:149959644G>T uc003qmr.1 - 1 85 c.40C>A c.(40-42)CGT>AGT p.R14S KATNA1_uc003qms.2_Missense_Mutation_p.R14S|KATNA1_uc003qmt.2_Missense_Mutation_p.R14S|KATNA1_uc011eed.1_Missense_Mutation_p.R14S NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 14 Interaction with microtubule.|Interaction with KATNB1. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) GCATATTCACGAGCCAATTTT 0.348 8 167 --- --- --- --- PASS ULBP3 79465 broad.mit.edu 37 6 150385786 150385786 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:150385786C>A uc003qns.3 - 4 692 c.692G>T c.(691-693)TGG>TTG p.W231L ULBP3_uc011eej.1_Missense_Mutation_p.W106L NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 precursor 231 antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity 0 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) GAGGAAGCTCCAGGGACTGAG 0.532 6 60 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151894542 151894542 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:151894542C>A uc003qol.2 + 6 1097 c.1008C>A c.(1006-1008)GGC>GGA p.G336G NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 336 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) TCCTTAGGGGCAGATTGAGCA 0.522 14 47 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154412160 154412160 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:154412160C>A uc003qpr.2 + 3 954 c.717C>A c.(715-717)TTC>TTA p.F239L OPRM1_uc011efc.1_Missense_Mutation_p.F158L|OPRM1_uc011efd.1_Missense_Mutation_p.F139L|OPRM1_uc011efe.1_Missense_Mutation_p.F332L|OPRM1_uc003qpn.2_Missense_Mutation_p.F239L|OPRM1_uc003qpo.1_Missense_Mutation_p.F239L|OPRM1_uc011eff.1_Missense_Mutation_p.F239L|OPRM1_uc011efg.1_Missense_Mutation_p.F239L|OPRM1_uc011efh.1_Missense_Mutation_p.F239L|OPRM1_uc003qpq.1_Missense_Mutation_p.F239L|OPRM1_uc003qpt.1_Missense_Mutation_p.F239L|OPRM1_uc011efi.1_Missense_Mutation_p.F239L|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.F139L|OPRM1_uc003qpu.2_Missense_Mutation_p.F139L NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 239 Helical; Name=5; (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCTGTGTTTTCATCTTCGCCT 0.433 7 96 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161012070 161012070 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:161012070C>A uc003qtl.2 - 24 3813 c.3693G>T c.(3691-3693)ATG>ATT p.M1231I NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3739 Kringle 33. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CATTGGGATCCATGGTATAAC 0.468 5 32 --- --- --- --- PASS QKI 9444 broad.mit.edu 37 6 163836265 163836265 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:163836265A>T uc003qui.2 + 1 591 c.40A>T c.(40-42)ACC>TCC p.T14S QKI_uc003que.2_Missense_Mutation_p.T14S|QKI_uc003quf.2_Missense_Mutation_p.T14S|QKI_uc003qug.2_Missense_Mutation_p.T14S|QKI_uc003quh.2_Missense_Mutation_p.T14S|QKI_uc003quj.2_Missense_Mutation_p.T14S NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 14 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GCCGAAGCCCACCCCAGATTA 0.512 6 33 --- --- --- --- PASS FAM120B 84498 broad.mit.edu 37 6 170627566 170627566 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr6:170627566G>T uc003qxp.2 + 2 1196 c.1088G>T c.(1087-1089)CGA>CTA p.R363L FAM120B_uc003qxo.1_Missense_Mutation_p.R363L|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 363 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GAATCCAGGCGAGAAGTTCCC 0.522 6 101 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5391687 5391687 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:5391687C>A uc003soi.3 - 17 5582 c.5233G>T c.(5233-5235)GAG>TAG p.E1745* TNRC18_uc003soj.2_Nonsense_Mutation_p.E127* NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 1745 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCGGGCCACTCGTCCTTCAGG 0.537 4 20 --- --- --- --- PASS COL28A1 340267 broad.mit.edu 37 7 7572456 7572456 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:7572456C>A uc003src.1 - 2 168 c.51G>T c.(49-51)ACG>ACT p.T17T COL28A1_uc011jxe.1_5'UTR NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 17 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CTGTTTGACTCGTAAACGCTG 0.338 9 205 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7628158 7628158 + Silent SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:7628158A>G uc003srf.2 + 8 2156 c.1848A>G c.(1846-1848)AGA>AGG p.R616R MIOS_uc003srg.2_Silent_p.R151R|MIOS_uc010ktq.2_Missense_Mutation_p.E14G NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 616 0 TACGTGACAGAGTGGCATTTG 0.343 22 108 --- --- --- --- PASS ETV1 2115 broad.mit.edu 37 7 13949310 13949310 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:13949310T>C uc011jxq.1 - 11 1626 c.887A>G c.(886-888)AAG>AGG p.K296R ETV1_uc011jxn.1_Missense_Mutation_p.K256R|ETV1_uc011jxo.1_Missense_Mutation_p.K193R|ETV1_uc011jxp.1_Missense_Mutation_p.K238R|ETV1_uc003ssw.3_Missense_Mutation_p.K273R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.K278R|ETV1_uc011jxs.1_Missense_Mutation_p.K278R|ETV1_uc010ktv.2_Missense_Mutation_p.R165G NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 296 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 CCTGGGGCCCTTTTCAAACAT 0.343 T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 4 203 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15427143 15427143 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:15427143C>A uc003stb.1 - 9 1015 c.845G>T c.(844-846)TGG>TTG p.W282L NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 282 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GAATGTAGTCCATATGGAAAA 0.343 7 127 --- --- --- --- PASS HDAC9 9734 broad.mit.edu 37 7 18688187 18688187 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:18688187A>G uc003suh.2 + 10 1380 c.1339A>G c.(1339-1341)AAC>GAC p.N447D HDAC9_uc003sue.2_Missense_Mutation_p.N447D|HDAC9_uc011jyd.1_Missense_Mutation_p.N447D|HDAC9_uc003sui.2_Missense_Mutation_p.N450D|HDAC9_uc003suj.2_Missense_Mutation_p.N406D|HDAC9_uc011jya.1_Missense_Mutation_p.N444D|HDAC9_uc003sua.1_Missense_Mutation_p.N425D|HDAC9_uc011jyb.1_Missense_Mutation_p.N403D|HDAC9_uc003sud.1_Missense_Mutation_p.N447D|HDAC9_uc011jyc.1_Missense_Mutation_p.N406D|HDAC9_uc003suf.1_Missense_Mutation_p.N478D|HDAC9_uc010kud.1_Missense_Mutation_p.N450D|HDAC9_uc011jye.1_Missense_Mutation_p.N419D|HDAC9_uc011jyf.1_Missense_Mutation_p.N370D|HDAC9_uc010kue.1_Missense_Mutation_p.N190D NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 447 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CAGACCCCTGAACCGAACCCA 0.512 13 44 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20683155 20683155 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:20683155C>A uc010kuh.2 + 7 815 c.578C>A c.(577-579)TCG>TAG p.S193* NM_001163941 NP_001157413 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 TCTACTTTTTCGATTGGCCTG 0.423 5 125 --- --- --- --- PASS IL6 3569 broad.mit.edu 37 7 22767125 22767125 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:22767125G>T uc011jyn.1 + 3 541 c.82G>T c.(82-84)GCC>TCC p.A28S uc010kun.1_Intron|IL6_uc011jyo.1_Missense_Mutation_p.A28S|IL6_uc011jyp.1_Intron|IL6_uc003svj.3_Missense_Mutation_p.A28S|IL6_uc011jyq.1_Missense_Mutation_p.A82S NM_000600 NP_000591 P05231 IL6_HUMAN interleukin 6 precursor 28 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding 0 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) TGCCTTCCCTGCCCCAGTACC 0.597 7 29 --- --- --- --- PASS KLHL7 55975 broad.mit.edu 37 7 23180511 23180511 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:23180511G>T uc003svs.3 + 5 859 c.566G>T c.(565-567)CGA>CTA p.R189L KLHL7_uc003svr.3_Missense_Mutation_p.R167L|KLHL7_uc011jys.1_Missense_Mutation_p.R113L|KLHL7_uc011jyt.1_5'UTR|KLHL7_uc003svt.2_Missense_Mutation_p.R141L|KLHL7_uc011jyv.1_5'UTR NM_001031710 NP_001026880 Q8IXQ5 KLHL7_HUMAN kelch-like 7 isoform 1 189 Golgi apparatus|nucleolus|plasma membrane 0 GATGTCAAGCGAGTAACACAT 0.363 7 101 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23296619 23296619 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:23296619G>T uc003swc.2 + 4 637 c.476G>T c.(475-477)GGG>GTG p.G159V GPNMB_uc003swa.2_Missense_Mutation_p.G159V|GPNMB_uc003swb.2_Missense_Mutation_p.G159V|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.G60V NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 159 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) TTCCCTGATGGGAAACCTTTT 0.478 7 116 --- --- --- --- PASS STK31 56164 broad.mit.edu 37 7 23794014 23794014 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:23794014C>A uc003sws.3 + 10 1281 c.1214C>A c.(1213-1215)CCA>CAA p.P405Q STK31_uc003swt.3_Missense_Mutation_p.P382Q|STK31_uc011jze.1_Missense_Mutation_p.P405Q|STK31_uc010kuq.2_Missense_Mutation_p.P382Q NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 405 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 TTTACTACTCCAGCTTCTTTG 0.378 11 188 --- --- --- --- PASS NPY 4852 broad.mit.edu 37 7 24329197 24329197 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:24329197C>A uc003sww.1 + 3 354 c.268C>A c.(268-270)CGG>AGG p.R90R NM_000905 NP_000896 P01303 NPY_HUMAN neuropeptide Y precursor 90 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity 0 TCCCAGAACTCGGTATGACAA 0.493 5 75 --- --- --- --- PASS HOXA6 3203 broad.mit.edu 37 7 27187272 27187272 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:27187272C>T uc003syo.1 - 1 97 c.97G>A c.(97-99)GAC>AAC p.D33N uc003syp.1_Intron|HOXA6_uc003syq.1_Intron NM_024014 NP_076919 P31267 HXA6_HUMAN homeobox A6 33 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 CTCAGCGCGTCATAGCCAGCC 0.607 12 29 --- --- --- --- PASS TAX1BP1 8887 broad.mit.edu 37 7 27868362 27868362 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:27868362G>T uc003szl.2 + 17 2442 c.2284G>T c.(2284-2286)GAG>TAG p.E762* TAX1BP1_uc011jzo.1_Nonsense_Mutation_p.E720*|TAX1BP1_uc003szk.2_Nonsense_Mutation_p.E720*|TAX1BP1_uc011jzp.1_Nonsense_Mutation_p.E563* NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 762 anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) GATGTGCAGCGAGCAGTTCCC 0.418 6 124 --- --- --- --- PASS MIR550-1 693133 broad.mit.edu 37 7 30329465 30329465 + RNA SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:30329465G>A hsa-mir-550-1|MI0003600 + c.56G>A ZNRF2_uc003tat.2_Intron 0 GTTGTTGTAAGATAGTGTCTT 0.483 22 93 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378807 31378807 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:31378807C>A uc003tch.2 - 2 429 c.76G>T c.(76-78)GAG>TAG p.E26* NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 26 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 TTCTGGTCCTCGCATTCTCTA 0.373 9 262 --- --- --- --- PASS NPSR1 387129 broad.mit.edu 37 7 34724182 34724182 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:34724182C>A uc003teg.1 + 2 294 c.166C>A c.(166-168)CTG>ATG p.L56M AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.L56M|NPSR1_uc010kwt.1_Translation_Start_Site|NPSR1_uc010kwu.1_Translation_Start_Site|NPSR1_uc010kwv.1_Missense_Mutation_p.L56M|NPSR1_uc003tei.1_Missense_Mutation_p.L56M|NPSR1_uc010kww.1_Missense_Mutation_p.L56M|NPSR1_uc011kar.1_Missense_Mutation_p.L56M NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 56 Helical; Name=1; (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) ATTGATAACTCTGTGGGTCCT 0.418 9 158 --- --- --- --- PASS ANLN 54443 broad.mit.edu 37 7 36455406 36455406 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:36455406G>T uc003tff.2 + 8 1639 c.1435G>T c.(1435-1437)GGT>TGT p.G479C ANLN_uc011kaz.1_Missense_Mutation_p.G391C|ANLN_uc003tfg.2_Missense_Mutation_p.G479C|ANLN_uc010kxe.2_Missense_Mutation_p.G479C NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 479 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 AAAACACCAAGGTGTTTCAAA 0.348 9 221 --- --- --- --- PASS SFRP4 6424 broad.mit.edu 37 7 37951810 37951810 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:37951810T>A uc003tfo.3 - 4 1088 c.702A>T c.(700-702)CAA>CAT p.Q234H NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 234 NTR. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 TGAGCGGGACTTGAGTTCGAG 0.483 56 74 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38502670 38502670 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:38502670C>A uc003tgu.2 - 10 862 c.793G>T c.(793-795)GAG>TAG p.E265* AMPH_uc003tgv.2_Nonsense_Mutation_p.E265*|AMPH_uc003tgt.2_Nonsense_Mutation_p.E18* NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 265 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 GAAGGCTCCTCAGGCGGTGAT 0.562 8 114 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38869888 38869888 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:38869888C>A uc003tgy.2 - 5 313 c.287G>T c.(286-288)GGA>GTA p.G96V VPS41_uc003tgz.2_Intron|VPS41_uc010kxn.2_Missense_Mutation_p.G96V NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 96 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CATGTGCTCTCCACTTTCATC 0.428 147 247 --- --- --- --- PASS RALA 5898 broad.mit.edu 37 7 39745754 39745754 + Silent SNP G T T rs147901344 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:39745754G>T uc003thd.2 + 5 831 c.531G>T c.(529-531)GCG>GCT p.A177A NM_005402 NP_005393 P11233 RALA_HUMAN ras related v-ral simian leukemia viral oncogene 177 actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis cell surface|cleavage furrow|cytosol|midbody|plasma membrane Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity lung(1)|skin(1) 2 AAATTCGAGCGAGAAAGATGG 0.323 6 116 --- --- --- --- PASS NPC1L1 29881 broad.mit.edu 37 7 44556514 44556514 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:44556514C>A uc003tlb.2 - 17 3444 c.3388G>T c.(3388-3390)GAG>TAG p.E1130* NPC1L1_uc003tlc.2_Nonsense_Mutation_p.E1103*|NPC1L1_uc011kbw.1_Nonsense_Mutation_p.E1057*|NPC1L1_uc003tla.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1130 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) AGGTACTGCTCATAAAACACA 0.607 4 14 --- --- --- --- PASS DDX56 54606 broad.mit.edu 37 7 44608558 44608558 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:44608558G>T uc003tlg.2 - 11 1970 c.1327C>A c.(1327-1329)CGG>AGG p.R443R DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.R379R|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.R403R|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 443 rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 CTTGCCTCCCGAATGGCCTGC 0.537 6 163 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103589 53103589 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:53103589C>T uc003tpz.2 + 1 241 c.225C>T c.(223-225)ACC>ACT p.T75T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 75 0 TGCCCAGCACCCACCTCATCG 0.711 11 16 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103999 53103999 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:53103999C>A uc003tpz.2 + 1 651 c.635C>A c.(634-636)CCC>CAC p.P212H NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 212 0 AACCTGCAGCCCCGGCCCTCT 0.672 9 55 --- --- --- --- PASS SUMF2 25870 broad.mit.edu 37 7 56141875 56141875 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:56141875C>A uc003trv.2 + 4 436 c.405C>A c.(403-405)CTC>CTA p.L135L PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Silent_p.L135L|SUMF2_uc011kcx.1_Silent_p.L135L|SUMF2_uc003trt.2_Silent_p.L28L|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 116 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGTCTGTACTCTGGTGGCTTC 0.557 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 155 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72754819 72754819 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:72754819C>T uc003tya.2 + 6 900 c.768C>T c.(766-768)CTC>CTT p.L256L FKBP6_uc003twz.2_Silent_p.L226L|FKBP6_uc011kew.1_Silent_p.L251L|FKBP6_uc010lbe.1_RNA NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 256 TPR 3. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CCAAGGCCCTCTTCAGGTGTG 0.488 10 33 --- --- --- --- PASS DTX2 113878 broad.mit.edu 37 7 76126661 76126661 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:76126661G>T uc003uff.3 + 7 1573 c.1017G>T c.(1015-1017)ACG>ACT p.T339T DTX2_uc011kgk.1_Silent_p.T248T|DTX2_uc003ufg.3_Silent_p.T339T|DTX2_uc003ufh.3_Silent_p.T339T|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Silent_p.T2T|DTX2_uc003ufm.3_5'Flank NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 339 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CAGGCATGACGAGTGTTCTGA 0.597 7 147 --- --- --- --- PASS CCDC146 57639 broad.mit.edu 37 7 76891505 76891505 + Missense_Mutation SNP C A A rs148455218 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:76891505C>A uc003uga.2 + 9 1181 c.1054C>A c.(1054-1056)CGT>AGT p.R352S CCDC146_uc010ldp.2_Missense_Mutation_p.R98S NM_020879 NP_065930 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 352 ovary(1)|central_nervous_system(1) 2 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TGAACTTTCTCGTAAGCAAAG 0.403 6 105 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82545331 82545331 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:82545331C>A uc003uhx.2 - 7 12260 c.11971G>T c.(11971-11973)GTT>TTT p.V3991F PCLO_uc003uhv.2_Missense_Mutation_p.V3991F|PCLO_uc010lec.2_Missense_Mutation_p.V956F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3922 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCGTAGAAACAGGTGCTATC 0.413 10 315 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87081012 87081012 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:87081012C>G uc003uiv.1 - 7 711 c.635G>C c.(634-636)AGA>ACA p.R212T ABCB4_uc003uiw.1_Missense_Mutation_p.R212T|ABCB4_uc003uix.1_Missense_Mutation_p.R212T NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 212 ABC transmembrane type-1 1.|Extracellular (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTTCCATCCTCTGATGAATCC 0.453 16 57 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965209 88965209 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:88965209C>T uc011khi.1 + 4 3451 c.2913C>T c.(2911-2913)GGC>GGT p.G971G NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 971 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CACCATCAGGCTGTAACAGAC 0.403 HNSCC(36;0.09) 58 78 --- --- --- --- PASS C7orf63 79846 broad.mit.edu 37 7 89887459 89887459 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:89887459G>T uc010lep.2 + 3 479 c.228G>T c.(226-228)CAG>CAT p.Q76H C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_5'UTR|C7orf63_uc011khj.1_Missense_Mutation_p.Q76H|C7orf63_uc010leo.2_Missense_Mutation_p.Q76H NM_001039706 NP_001034795 A5D8W1 CG063_HUMAN hypothetical protein LOC79846 isoform 1 76 binding ovary(1) 1 AACTGGTACAGTGTTATCAGA 0.259 5 75 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92140260 92140260 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:92140260G>T uc003uly.2 - 8 1681 c.1585C>A c.(1585-1587)CAA>AAA p.Q529K PEX1_uc011khr.1_Missense_Mutation_p.Q321K|PEX1_uc010ley.2_Missense_Mutation_p.Q529K|PEX1_uc011khs.1_Missense_Mutation_p.Q207K|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 529 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GCTATTACTTGTATTGTAGTC 0.284 6 87 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97822171 97822171 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:97822171C>A uc003upd.1 + 11 2687 c.2394C>A c.(2392-2394)CTC>CTA p.L798L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 798 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ATGTCATGCTCACAGGTGACA 0.498 8 110 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98601960 98601960 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:98601960C>A uc003upp.2 + 67 10624 c.10415C>A c.(10414-10416)TCG>TAG p.S3472* TRRAP_uc011kis.1_Nonsense_Mutation_p.S3443*|TRRAP_uc003upr.2_Nonsense_Mutation_p.S3178* NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3472 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGCAATTTCTCGGCACAGACA 0.478 6 147 --- --- --- --- PASS ZKSCAN5 23660 broad.mit.edu 37 7 99128838 99128838 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:99128838C>A uc003uqv.2 + 7 1610 c.1486C>A c.(1486-1488)CAA>AAA p.Q496K ZKSCAN5_uc010lfx.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.Q496K|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.Q423K|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.Q232K NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 496 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) AAATGTTTCTCAAGTTCAAGA 0.363 9 252 --- --- --- --- PASS PCOLCE 5118 broad.mit.edu 37 7 100201832 100201832 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:100201832C>A uc003uvo.2 + 3 653 c.455C>A c.(454-456)TCG>TAG p.S152* uc011kjy.1_5'Flank|PCOLCE_uc011kkb.1_Nonsense_Mutation_p.S152*|PCOLCE_uc010lhb.1_Intron|PCOLCE_uc003uvp.1_5'Flank NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 152 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CGGGCCACCTCGGGCACTGGT 0.522 4 31 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100677874 100677874 + Silent SNP G T T rs147962629 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:100677874G>T uc003uxp.1 + 3 3230 c.3177G>T c.(3175-3177)ACG>ACT p.T1059T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1059 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|15. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTTCTGAAACGAGCACACTTT 0.502 7 221 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100681823 100681823 + Missense_Mutation SNP G C C rs147490705 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:100681823G>C uc003uxp.1 + 3 7179 c.7126G>C c.(7126-7128)GGT>CGT p.G2376R MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2376 Extracellular (Potential).|59 X approximate tandem repeats.|38.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTCTCAAGCCGGTTCATCTCC 0.488 4 166 --- --- --- --- PASS PLOD3 8985 broad.mit.edu 37 7 100855549 100855549 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:100855549G>T uc003uyd.2 - 10 1568 c.1112C>A c.(1111-1113)GCC>GAC p.A371D PLOD3_uc010lhs.2_5'UTR NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 371 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CATGTCCCTGGCCTCGCCTGG 0.662 5 54 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116380911 116380911 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:116380911G>T uc003vij.2 + 5 1720 c.1533G>T c.(1531-1533)ACG>ACT p.T511T MET_uc010lkh.2_Silent_p.T511T|MET_uc011knc.1_Silent_p.T511T|MET_uc011knd.1_Silent_p.T511T|MET_uc011kne.1_Intron|MET_uc011knf.1_Silent_p.T511T|MET_uc011kng.1_Silent_p.T511T|MET_uc011knh.1_Silent_p.T511T|MET_uc011kni.1_Silent_p.T511T|MET_uc011knj.1_Silent_p.T81T|MET_uc011knb.1_Silent_p.T511T NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 511 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CACAGATCACGAAGATCCCAT 0.443 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 5 103 --- --- --- --- PASS ASB15 142685 broad.mit.edu 37 7 123270074 123270074 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:123270074C>A uc003vku.1 + 11 1787 c.1495C>A c.(1495-1497)CGT>AGT p.R499S ASB15_uc003vkw.1_Missense_Mutation_p.R499S NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 499 intracellular signal transduction skin(2)|lung(1) 3 CAGAGTTACTCGTGTACTAAT 0.358 7 135 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123593690 123593690 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:123593690G>A uc003vld.2 + 4 468 c.66G>A c.(64-66)CAG>CAA p.Q22Q SPAM1_uc003vle.2_Silent_p.Q22Q|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Silent_p.Q22Q|SPAM1_uc010lku.2_Silent_p.Q22Q NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 22 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) GAGTATCCCAGATAGTTTTCA 0.393 14 36 --- --- --- --- PASS CALU 813 broad.mit.edu 37 7 128399070 128399070 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:128399070C>A uc003vns.2 + 4 713 c.561C>A c.(559-561)TAC>TAA p.Y187* CALU_uc003vnq.2_Nonsense_Mutation_p.Y187*|CALU_uc003vnr.2_Nonsense_Mutation_p.Y187* NM_001130674 NP_001124146 O43852 CALU_HUMAN calumenin isoform b precursor 187 platelet activation|platelet degranulation extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen calcium ion binding|protein binding 0 AGTATGACTACATGAAAGATA 0.448 8 140 --- --- --- --- PASS KLHDC10 23008 broad.mit.edu 37 7 129769365 129769365 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:129769365C>A uc003vpj.1 + 9 1203 c.1068C>A c.(1066-1068)CTC>CTA p.L356L KLHDC10_uc003vpk.1_Silent_p.L327L|KLHDC10_uc010lmb.1_Silent_p.L253L NM_014997 NP_055812 Q6PID8 KLD10_HUMAN kelch domain containing 10 356 Kelch 5. 0 GGGTGAAGCTCCCAGCTACCA 0.398 6 75 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131848963 131848963 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:131848963C>T uc003vra.3 - 24 4667 c.4438G>A c.(4438-4440)GAG>AAG p.E1480K NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1480 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 TAGCGGGCCTCGCCCGTGATG 0.592 9 21 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138603934 138603934 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:138603934C>A uc011kql.1 - 2 487 c.438G>T c.(436-438)ACG>ACT p.T146T KIAA1549_uc003vuk.3_Silent_p.T96T|KIAA1549_uc011kqj.1_Silent_p.T146T NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 146 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 CCTCTTTACTCGTCACTGACA 0.453 O BRAF pilocytic astrocytoma 8 180 --- --- --- --- PASS TTC26 79989 broad.mit.edu 37 7 138874078 138874078 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:138874078G>T uc003vus.2 + 18 1679 c.1565G>T c.(1564-1566)CGA>CTA p.R522L TTC26_uc011kqn.1_Silent_p.S477S|TTC26_uc011kqo.1_Missense_Mutation_p.R491L|TTC26_uc011kqp.1_Missense_Mutation_p.R417L|TTC26_uc003vut.2_Missense_Mutation_p.R382L|TTC26_uc011kqq.1_Missense_Mutation_p.R391L NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 522 binding ovary(1) 1 GAGACCCTTCGAGAAGTGCTC 0.363 6 227 --- --- --- --- PASS TBXAS1 6916 broad.mit.edu 37 7 139611111 139611111 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:139611111C>A uc011kqv.1 + 4 491 c.327C>A c.(325-327)ACC>ACA p.T109T TBXAS1_uc003vvh.2_Silent_p.T109T|TBXAS1_uc010lne.2_Silent_p.T41T|TBXAS1_uc011kqu.1_Silent_p.T60T|TBXAS1_uc003vvi.2_Silent_p.T109T|TBXAS1_uc003vvj.2_Silent_p.T109T|TBXAS1_uc011kqw.1_Silent_p.T89T|TBXAS1_uc011kqx.1_Silent_p.T109T NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 108 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GTAACTTTACCAACAGAATGG 0.433 7 90 --- --- --- --- PASS ADCK2 90956 broad.mit.edu 37 7 140373931 140373931 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:140373931C>A uc003vvy.1 + 1 979 c.801C>A c.(799-801)CTC>CTA p.L267L ADCK2_uc003vvz.2_Silent_p.L267L NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 267 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) CAGAAAATCTCGCAGACCAGT 0.577 4 35 --- --- --- --- PASS WEE2 494551 broad.mit.edu 37 7 141408871 141408871 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:141408871C>A uc003vwn.2 + 1 719 c.313C>A c.(313-315)CTG>ATG p.L105M FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 105 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GAGCAAGCTGCTGCCCAGTGA 0.517 30 32 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146818203 146818203 + Missense_Mutation SNP T G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:146818203T>G uc003weu.1 + 6 1403 c.887T>G c.(886-888)ATG>AGG p.M296R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 296 Laminin G-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GACAGGAGCATGCAGCACTTC 0.478 HNSCC(39;0.1) 10 33 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147259238 147259238 + Nonsense_Mutation SNP G T T rs141064983 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:147259238G>T uc003weu.1 + 12 2302 c.1786G>T c.(1786-1788)GAG>TAG p.E596* NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 596 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGCTATCTACGAGCCTTCCTG 0.448 HNSCC(39;0.1) 4 46 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147336352 147336352 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:147336352G>T uc003weu.1 + 13 2568 c.2052G>T c.(2050-2052)CAG>CAT p.Q684H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 684 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACTGCGAGCAGTATGTCTCCT 0.463 HNSCC(39;0.1) 4 25 --- --- --- --- PASS GIMAP7 168537 broad.mit.edu 37 7 150217741 150217741 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:150217741C>A uc003whk.2 + 2 809 c.679C>A c.(679-681)CAA>AAA p.Q227K NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 227 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTACACTGACCAATTAAATGA 0.323 7 93 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151880108 151880108 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr7:151880108G>T uc003wla.2 - 35 5435 c.5216C>A c.(5215-5217)CCT>CAT p.P1739H MLL3_uc003wkz.2_Missense_Mutation_p.P800H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1739 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGCTTTAAAGGATCTTTAAA 0.338 N medulloblastoma 9 201 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3165276 3165276 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:3165276C>A uc011kwk.1 - 25 4284 c.3894G>T c.(3892-3894)CCG>CCT p.P1298P CSMD1_uc011kwj.1_Silent_p.P690P|CSMD1_uc003wqe.2_Silent_p.P454P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1298 Extracellular (Potential).|CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTTGTCATACGGAGCTGGAT 0.468 5 91 --- --- --- --- PASS MCPH1 79648 broad.mit.edu 37 8 6289033 6289033 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:6289033G>T uc003wqi.2 + 4 315 c.247G>T c.(247-249)GGA>TGA p.G83* MCPH1_uc003wqh.2_Nonsense_Mutation_p.G83*|MCPH1_uc011kwl.1_Nonsense_Mutation_p.G83* NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 83 BRCT 1. microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) CAGGACAGCTGGAGCACACAT 0.318 7 126 --- --- --- --- PASS EFHA2 286097 broad.mit.edu 37 8 16921702 16921702 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:16921702C>A uc003wxd.2 + 2 533 c.491C>A c.(490-492)ACT>AAT p.T164N NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 164 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) TTATTCATGACTCCGTATGAT 0.353 6 100 --- --- --- --- PASS NAT2 10 broad.mit.edu 37 8 18258273 18258273 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:18258273G>T uc003wyw.1 + 2 867 c.760G>T c.(760-762)GAG>TAG p.E254* NM_000015 NP_000006 P11245 ARY2_HUMAN N-acetyltransferase 2 254 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity ovary(1)|skin(1) 2 Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21) AGATCTGGTCGAGTTTAAAAC 0.408 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 5 66 --- --- --- --- PASS HR 55806 broad.mit.edu 37 8 21984736 21984736 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:21984736G>T uc003xas.2 - 3 1884 c.1219C>A c.(1219-1221)CGG>AGG p.R407R HR_uc003xat.2_Silent_p.R407R NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 407 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GCCCGGAGCCGAGCAACCGGC 0.652 4 44 --- --- --- --- PASS EGR3 1960 broad.mit.edu 37 8 22548495 22548495 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:22548495G>C uc003xcm.1 - 2 1013 c.655C>G c.(655-657)CGG>GGG p.R219G EGR3_uc011kzn.1_Missense_Mutation_p.R181G|EGR3_uc011kzo.1_Missense_Mutation_p.R165G NM_004430 NP_004421 Q06889 EGR3_HUMAN early growth response 3 219 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GGGTTGACCCGGATGGGGTCC 0.602 9 36 --- --- --- --- PASS NEFM 4741 broad.mit.edu 37 8 24771448 24771448 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:24771448G>T uc003xed.3 + 1 175 c.142G>T c.(142-144)GTG>TTG p.V48L NEFM_uc011lac.1_Missense_Mutation_p.V48L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 48 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GCCCAGCACCGTGTCCTCCTC 0.692 4 17 --- --- --- --- PASS RBPMS 11030 broad.mit.edu 37 8 30332342 30332342 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:30332342G>T uc003xic.1 + 2 779 c.114G>T c.(112-114)CGG>CGT p.R38R RBPMS_uc003xid.1_Silent_p.R38R|RBPMS_uc003xie.1_Silent_p.R38R|RBPMS_uc003xif.1_5'Flank|RBPMS_uc011lba.1_Silent_p.R38R|RBPMS_uc003xib.2_Silent_p.R38R|RBPMS_uc010lvh.1_5'UTR NM_006867 NP_006858 Q93062 RBPMS_HUMAN RNA-binding protein with multiple splicing 38 RRM. positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TCAAACCTCGGGAGCTCTATC 0.398 7 148 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37697062 37697062 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:37697062G>T uc003xkj.2 + 16 2796 c.2433G>T c.(2431-2433)TTG>TTT p.L811F GPR124_uc010lvy.2_Missense_Mutation_p.L594F NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 811 Helical; Name=2; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) TGCTGAACTTGTGCTTCCACA 0.582 4 21 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37732086 37732086 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:37732086C>A uc003xkm.1 - 3 1613 c.1569G>T c.(1567-1569)CCG>CCT p.P523P RAB11FIP1_uc010lvz.1_Silent_p.P371P|RAB11FIP1_uc003xkn.1_Silent_p.P523P|RAB11FIP1_uc003xkl.1_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.P371P NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 523 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TTGGAGGTCTCGGTTCAGACT 0.552 5 62 --- --- --- --- PASS PLEKHA2 59339 broad.mit.edu 37 8 38810819 38810819 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:38810819G>T uc003xmi.3 + 9 941 c.707G>T c.(706-708)CGA>CTA p.R236L PLEKHA2_uc011lce.1_Missense_Mutation_p.R186L NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A 236 PH 2. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding 0 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) CACCAGGACCGAGAACCACTG 0.463 6 117 --- --- --- --- PASS ADAM2 2515 broad.mit.edu 37 8 39627087 39627087 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:39627087T>A uc003xnj.2 - 12 1111 c.1036A>T c.(1036-1038)AGT>TGT p.S346C ADAM2_uc003xnk.2_Missense_Mutation_p.S327C|ADAM2_uc011lck.1_Missense_Mutation_p.S346C|ADAM2_uc003xnl.2_Missense_Mutation_p.S220C NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 346 Extracellular (Potential).|Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTCACACCACTGAAATGACTA 0.383 6 19 --- --- --- --- PASS NKAIN3 286183 broad.mit.edu 37 8 63492131 63492131 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:63492131C>A uc010lyq.1 + 2 220 c.88C>A c.(88-90)CTT>ATT p.L30I NM_173688 NP_775959 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 30 integral to membrane|plasma membrane 0 Breast(64;0.127) Lung NSC(129;0.187) CTTTGACTTCCTTGGTTTCCA 0.363 9 172 --- --- --- --- PASS PDE7A 5150 broad.mit.edu 37 8 66639131 66639131 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:66639131G>T uc003xvq.2 - 9 911 c.899C>A c.(898-900)TCA>TAA p.S300* PDE7A_uc003xvr.2_Nonsense_Mutation_p.S300*|PDE7A_uc003xvp.2_Nonsense_Mutation_p.S274* NM_002604 NP_002595 Q13946 PDE7A_HUMAN phosphodiesterase 7A isoform b 300 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding 0 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TGGCAGATGTGAGAATAAGCC 0.348 8 194 --- --- --- --- PASS CSPP1 79848 broad.mit.edu 37 8 67998343 67998343 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:67998343C>A uc003xxi.2 + 4 440 c.409C>A c.(409-411)CAG>AAG p.Q137K CSPP1_uc003xxg.1_Missense_Mutation_p.Q137K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.Q137K|CSPP1_uc003xxk.2_5'UTR NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 137 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTATCTTACTCAGGTAATGAG 0.303 7 120 --- --- --- --- PASS TRAM1 23471 broad.mit.edu 37 8 71495456 71495456 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:71495456G>A uc003xyo.1 - 10 1164 c.994C>T c.(994-996)CCA>TCA p.P332S TRAM1_uc011lfc.1_Missense_Mutation_p.P301S NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 332 Cytoplasmic (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TTCACAGCTGGTGCCTGAAAA 0.398 15 45 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72958840 72958840 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:72958840C>A uc003xza.2 - 17 2144 c.1969G>T c.(1969-1971)GAG>TAG p.E657* uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 657 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) AAATTATACTCGATCTGTAGA 0.299 5 102 --- --- --- --- PASS RALYL 138046 broad.mit.edu 37 8 85441608 85441608 + Missense_Mutation SNP T G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:85441608T>G uc003ycq.3 + 3 468 c.52T>G c.(52-54)TCC>GCC p.S18A RALYL_uc003ycr.3_Missense_Mutation_p.S18A|RALYL_uc003ycs.3_Missense_Mutation_p.S18A|RALYL_uc010lzy.2_Missense_Mutation_p.S18A|RALYL_uc003yct.3_Missense_Mutation_p.S31A NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 18 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 TGACCCCAAGTCCATCAACTC 0.358 4 16 --- --- --- --- PASS POP1 10940 broad.mit.edu 37 8 99149137 99149137 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:99149137C>A uc003yij.3 + 9 1417 c.1317C>A c.(1315-1317)TCC>TCA p.S439S POP1_uc011lgv.1_Silent_p.S439S|POP1_uc003yik.2_Silent_p.S439S NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 439 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGCCACTTTCCCACTCCATCC 0.383 7 132 --- --- --- --- PASS RNF19A 25897 broad.mit.edu 37 8 101271234 101271234 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:101271234C>A uc003yjj.1 - 11 2384 c.2067G>T c.(2065-2067)ACG>ACT p.T689T RNF19A_uc003yjk.1_Silent_p.T689T NM_015435 NP_056250 Q9NV58 RN19A_HUMAN ring finger protein 19 689 Interaction with CASR. microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) TGTCCTCTCTCGTCTCATTTA 0.423 OREG0018897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 161 --- --- --- --- PASS PABPC1 26986 broad.mit.edu 37 8 101724590 101724590 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:101724590C>A uc003yjs.1 - 7 1476 c.972G>T c.(970-972)AAG>AAT p.K324N PABPC1_uc011lhc.1_Missense_Mutation_p.K292N|PABPC1_uc011lhd.1_Missense_Mutation_p.K279N|PABPC1_uc003yjt.1_Missense_Mutation_p.K321N|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 324 RRM 4. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) GTTTTCTTACCTTTGCACTAG 0.308 10 288 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103341406 103341406 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:103341406C>A uc003ykr.1 - 11 1271 c.1238G>T c.(1237-1239)CGA>CTA p.R413L UBR5_uc003yks.1_Missense_Mutation_p.R413L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 413 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AAATGTTGCTCGTGGATGATG 0.308 6 202 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103359276 103359276 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:103359276G>T uc003ykr.1 - 6 464 c.431C>A c.(430-432)TCT>TAT p.S144Y UBR5_uc003yks.1_Missense_Mutation_p.S144Y NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 144 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGACCTACCAGAGGATCCTCC 0.502 9 126 --- --- --- --- PASS FZD6 8323 broad.mit.edu 37 8 104330888 104330888 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:104330888C>A uc003ylh.2 + 3 532 c.248C>A c.(247-249)CCA>CAA p.P83Q FZD6_uc003yli.2_Missense_Mutation_p.P83Q|FZD6_uc003ylj.2_Missense_Mutation_p.P83Q|FZD6_uc011lhn.1_Missense_Mutation_p.P49Q|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.P28Q NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 83 FZ.|Extracellular (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GCATTTGTACCAACCTGCATA 0.353 7 116 --- --- --- --- PASS FZD6 8323 broad.mit.edu 37 8 104340586 104340586 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:104340586G>T uc003ylh.2 + 5 1767 c.1483G>T c.(1483-1485)GGA>TGA p.G495* FZD6_uc003yli.2_Nonsense_Mutation_p.G495*|FZD6_uc003ylj.2_Nonsense_Mutation_p.G495*|FZD6_uc011lhn.1_Nonsense_Mutation_p.G461*|FZD6_uc011lho.1_Nonsense_Mutation_p.G190*|FZD6_uc011lhp.1_Nonsense_Mutation_p.G440* NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 495 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) CTTCTGGGTTGGAAGCAAAAA 0.348 7 104 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104897584 104897584 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:104897584A>G uc003yls.2 + 2 332 c.91A>G c.(91-93)AGA>GGA p.R31G RIMS2_uc003ylp.2_Missense_Mutation_p.R253G|RIMS2_uc003ylw.2_Missense_Mutation_p.R61G|RIMS2_uc003ylq.2_Missense_Mutation_p.R61G|RIMS2_uc003ylr.2_Missense_Mutation_p.R61G NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 284 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAGGGAAGAAAGAGAGGAATA 0.403 HNSCC(12;0.0054) 7 30 --- --- --- --- PASS ENY2 56943 broad.mit.edu 37 8 110355665 110355665 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:110355665C>A uc003ynd.2 + 5 323 c.261C>A c.(259-261)CTC>CTA p.L87L ENY2_uc003ync.2_Silent_p.L82L NM_020189 NP_064574 Q9NPA8 ENY2_HUMAN enhancer of yellow 2 homolog 87 histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity 0 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;9.05e-13) AGAAGGAGCTCCTACAAAGAA 0.338 7 190 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110476645 110476645 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:110476645A>T uc003yne.2 + 49 7688 c.7584A>T c.(7582-7584)ATA>ATT p.I2528I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2528 PbH1 1.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTTTTTATAGAAGATGGTA 0.388 HNSCC(38;0.096) 5 37 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110509432 110509432 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:110509432C>A uc003yne.2 + 65 10634 c.10530C>A c.(10528-10530)GCC>GCA p.A3510A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3510 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATGGAATGGCCATTTTTCCAA 0.353 HNSCC(38;0.096) 8 121 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113241017 113241017 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:113241017A>C uc003ynu.2 - 70 11091 c.10932T>G c.(10930-10932)TTT>TTG p.F3644L CSMD3_uc003yns.2_Missense_Mutation_p.F2846L|CSMD3_uc003ynt.2_Missense_Mutation_p.F3604L|CSMD3_uc011lhx.1_Missense_Mutation_p.F3475L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3644 Helical; (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CAAATCCTGCAAATATAAGTG 0.308 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 90 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113484930 113484930 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:113484930C>A uc003ynu.2 - 32 5444 c.5285G>T c.(5284-5286)TGT>TTT p.C1762F CSMD3_uc003yns.2_Missense_Mutation_p.C1034F|CSMD3_uc003ynt.2_Missense_Mutation_p.C1722F|CSMD3_uc011lhx.1_Missense_Mutation_p.C1658F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1762 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 ACGACTTCCACAGGGCGCTAG 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 74 --- --- --- --- PASS EIF3H 8667 broad.mit.edu 37 8 117658799 117658799 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:117658799C>A uc003yoa.2 - 7 898 c.872G>T c.(871-873)CGA>CTA p.R291L EIF3H_uc003yob.2_Missense_Mutation_p.R305L NM_003756 NP_003747 O15372 EIF3H_HUMAN eukaryotic translation initiation factor 3, 291 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(3) 3 all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172) GGGTTCTCCTCGGCTCTGGCG 0.517 6 128 --- --- --- --- PASS FBXO32 114907 broad.mit.edu 37 8 124546943 124546943 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:124546943C>A uc003yqr.2 - 2 420 c.228G>T c.(226-228)CAG>CAT p.Q76H FBXO32_uc003yqq.2_5'Flank|FBXO32_uc010mdk.2_Missense_Mutation_p.Q76H NM_058229 NP_478136 Q969P5 FBX32_HUMAN F-box only protein 32 isoform 1 76 skin(3)|breast(2)|lung(1) 6 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ATGGCTTACACTGAGTTTTGG 0.368 6 90 --- --- --- --- PASS TATDN1 83940 broad.mit.edu 37 8 125531059 125531059 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:125531059C>A uc003yrd.2 - 4 244 c.202G>T c.(202-204)GGT>TGT p.G68C TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Missense_Mutation_p.G21C|TATDN1_uc003yrf.2_Missense_Mutation_p.G68C NM_032026 NP_114415 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 isoform a 68 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding 0 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATGAGGATACCATTTGTTTGT 0.299 7 128 --- --- --- --- PASS ZNF572 137209 broad.mit.edu 37 8 125989495 125989495 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:125989495C>G uc003yrr.2 + 3 1140 c.985C>G c.(985-987)CAA>GAA p.Q329E NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 329 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AAAGCCTTATCAATGTCCAGA 0.358 HNSCC(60;0.17) 4 58 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133150167 133150167 + Silent SNP G T T rs143511163 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:133150167G>T uc003ytj.2 - 12 1890 c.1665C>A c.(1663-1665)CTC>CTA p.L555L KCNQ3_uc010mdt.2_Silent_p.L555L NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 555 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAAGCATGTCGAGATGCCCGG 0.458 6 110 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139668172 139668172 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:139668172G>T uc003yvd.2 - 45 3748 c.3301C>A c.(3301-3303)CTG>ATG p.L1101M COL22A1_uc011ljo.1_Missense_Mutation_p.L381M NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1101 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCTGGAGACAGTAGTGAAGAG 0.378 HNSCC(7;0.00092) 7 196 --- --- --- --- PASS GSDMD 79792 broad.mit.edu 37 8 144644930 144644930 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:144644930G>A uc010mfe.2 + 14 2014 c.1311G>A c.(1309-1311)CCG>CCA p.P437P GSDMD_uc003yyf.2_Silent_p.P485P|GSDMD_uc003yyg.2_Silent_p.P437P|GSDMD_uc003yyh.2_Silent_p.P368P NM_024736 NP_079012 P57764 GSDMD_HUMAN gasdermin D 437 SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). 0 AAGGAGCACCGGCCTGGGTCT 0.697 3 1 --- --- --- --- PASS ZNF623 9831 broad.mit.edu 37 8 144733436 144733436 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:144733436G>T uc003yzd.2 + 1 1483 c.1394G>T c.(1393-1395)GGG>GTG p.G465V ZNF623_uc011lkp.1_Missense_Mutation_p.G425V|ZNF623_uc003yzc.2_Missense_Mutation_p.G425V NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 465 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGTTATTGTGGGAAAGGCTTT 0.418 6 56 --- --- --- --- PASS PUF60 22827 broad.mit.edu 37 8 144898966 144898966 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:144898966G>T uc003yzs.2 - 12 1468 c.1404C>A c.(1402-1404)AAC>AAA p.N468K SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.N408K|PUF60_uc003yzt.2_Missense_Mutation_p.N451K|PUF60_uc003yzq.2_Missense_Mutation_p.N425K NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 468 RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGTCCACCATGTTGCGCAGAA 0.632 5 32 --- --- --- --- PASS RPL8 6132 broad.mit.edu 37 8 146017419 146017419 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr8:146017419C>A uc003zeb.2 - 2 207 c.96G>T c.(94-96)GTG>GTT p.V32V RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Silent_p.V32V|RPL8_uc003zec.2_Silent_p.V32V|RPL8_uc010mgc.2_Silent_p.V32V|RPL8_uc011lll.1_5'Flank NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 32 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) CAGCGAAATCCACGGCGCGCA 0.701 4 10 --- --- --- --- PASS SMARCA2 6595 broad.mit.edu 37 9 2033005 2033005 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:2033005C>A uc003zhc.2 + 3 378 c.279C>A c.(277-279)TCC>TCA p.S93S SMARCA2_uc003zhd.2_Silent_p.S93S|SMARCA2_uc010mha.2_Silent_p.S84S NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 93 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATTGTGGATCCATGAAGGGCA 0.483 6 79 --- --- --- --- PASS UHRF2 115426 broad.mit.edu 37 9 6460735 6460735 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:6460735C>A uc003zjy.2 + 4 1147 c.807C>A c.(805-807)ACC>ACA p.T269T UHRF2_uc003zjz.2_RNA|UHRF2_uc003zka.1_Silent_p.T46T NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 269 Interaction with PCNP. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) CAGAAATTACCACATTGAAGA 0.348 7 107 --- --- --- --- PASS GLDC 2731 broad.mit.edu 37 9 6595065 6595065 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:6595065G>T uc003zkc.2 - 9 1403 c.1210C>A c.(1210-1212)CTG>ATG p.L404M NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 404 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ATATGCTCCAGCCCATGGGAA 0.393 7 272 --- --- --- --- PASS MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 T MLL ALL 4 28 --- --- --- --- PASS C9orf82 79886 broad.mit.edu 37 9 26884875 26884875 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:26884875C>A uc003zqc.2 - 4 610 c.598G>T c.(598-600)GGA>TGA p.G200* C9orf82_uc003zqb.2_Nonsense_Mutation_p.G55* NM_024828 NP_079104 Q9H8G2 CI082_HUMAN hypothetical protein LOC79886 200 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(42;1.39e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) GAGTCCATTCCATTGTCACCT 0.284 9 292 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32630222 32630222 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:32630222A>T uc003zrg.1 - 1 5446 c.5356T>A c.(5356-5358)TTC>ATC p.F1786I NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1786 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATAGCAGAGAAAGGATTGTCT 0.458 39 61 --- --- --- --- PASS UBAP2 55833 broad.mit.edu 37 9 33948493 33948493 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:33948493C>A uc003ztq.1 - 13 1262 c.1149G>T c.(1147-1149)CCG>CCT p.P383P UBAP2_uc011loc.1_Silent_p.P292P|UBAP2_uc011lod.1_Silent_p.P116P|UBAP2_uc011loe.1_Silent_p.P138P|UBAP2_uc011lof.1_Silent_p.P308P|UBAP2_uc011log.1_Silent_p.P329P|UBAP2_uc003ztr.2_Silent_p.P255P|UBAP2_uc003zts.2_Silent_p.P16P NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 383 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GGCCCAAACTCGGAGCTTTCA 0.488 6 149 --- --- --- --- PASS C9orf23 138716 broad.mit.edu 37 9 34610925 34610925 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:34610925C>A uc003zuu.2 - 2 650 c.369G>T c.(367-369)CGG>CGT p.R123R C9orf23_uc003zuv.2_Silent_p.R123R NM_148179 NP_680545 Q8N5L8 CI023_HUMAN hypothetical protein LOC138716 123 nucleic acid binding 0 all_epithelial(49;0.0863) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.0385) CCAGGGGGTCCCGGCTGAGCA 0.652 5 23 --- --- --- --- PASS CREB3 10488 broad.mit.edu 37 9 35736299 35736299 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:35736299G>T uc003zxv.2 + 8 1225 c.772G>T c.(772-774)GAG>TAG p.E258* CREB3_uc010mla.2_Nonsense_Mutation_p.E177* NM_006368 NP_006359 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 282 Lumenal (Potential). chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity 0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CCTGCCAGCTGAGCATGGAGG 0.537 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 107 --- --- --- --- PASS MSMP 692094 broad.mit.edu 37 9 35754006 35754006 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:35754006G>T uc003zyb.1 - 1 267 c.121C>A c.(121-123)CAA>AAA p.Q41K NM_001044264 NP_001037729 Q1L6U9 MSMP_HUMAN PC3-secreted microprotein precursor 41 extracellular region 0 CCTTGAGCTTGGAAGTAGCAC 0.562 8 169 --- --- --- --- PASS NPR2 4882 broad.mit.edu 37 9 35808587 35808587 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:35808587C>A uc003zyd.2 + 19 2794 c.2794C>A c.(2794-2796)CGT>AGT p.R932S NPR2_uc010mlb.2_Missense_Mutation_p.R908S|SPAG8_uc003zye.2_Intron NM_003995 NP_003986 P20594 ANPRB_HUMAN natriuretic peptide receptor B precursor 932 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity ovary(2)|stomach(1) 3 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGAAATTGCTCGTATGGCCCT 0.542 4 37 --- --- --- --- PASS CNTNAP3 79937 broad.mit.edu 37 9 39086791 39086791 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:39086791G>T uc004abi.2 - 20 3515 c.3276C>A c.(3274-3276)ACC>ACA p.T1092T CNTNAP3_uc004abj.2_Silent_p.T1011T|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Silent_p.T1092T NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 1092 Laminin G-like 4.|Extracellular (Potential). cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAAAATCAAAGGTAAATGCAT 0.338 7 90 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77442742 77442742 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:77442742G>A uc004ajl.1 - 7 1031 c.793C>T c.(793-795)CTC>TTC p.L265F TRPM6_uc004ajk.1_Missense_Mutation_p.L260F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L265F|TRPM6_uc010mpd.1_Missense_Mutation_p.L265F|TRPM6_uc010mpe.1_Missense_Mutation_p.L265F|TRPM6_uc004ajn.1_Missense_Mutation_p.L265F NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 265 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TTCCTTCTGAGCTTCATTTCA 0.522 17 42 --- --- --- --- PASS GCNT1 2650 broad.mit.edu 37 9 79117357 79117357 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:79117357G>T uc010mpf.2 + 3 401 c.60G>T c.(58-60)ATG>ATT p.M20I GCNT1_uc010mpg.2_Missense_Mutation_p.M20I|GCNT1_uc010mph.2_Missense_Mutation_p.M20I|GCNT1_uc004akf.3_Missense_Mutation_p.M20I|GCNT1_uc010mpi.2_Missense_Mutation_p.M20I|GCNT1_uc004akh.3_Missense_Mutation_p.M20I NM_001490 NP_001481 Q02742 GCNT1_HUMAN beta-1,3-galactosyl-O-glycosyl-glycoprotein 20 Helical; Signal-anchor for type II membrane protein; (Potential). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity 0 ACTACTTTATGGTTCTTGTTT 0.408 7 105 --- --- --- --- PASS PSAT1 29968 broad.mit.edu 37 9 80921340 80921340 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:80921340G>T uc004ala.2 + 5 576 c.508G>T c.(508-510)GGA>TGA p.G170* PSAT1_uc004alb.2_Nonsense_Mutation_p.G170* NM_058179 NP_478059 Q9Y617 SERC_HUMAN phosphoserine aminotransferase 1 isoform 1 170 L-serine biosynthetic process|pyridoxine biosynthetic process O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165) CGATGTCAAGGGAGCAGTACT 0.498 8 212 --- --- --- --- PASS RASEF 158158 broad.mit.edu 37 9 85619503 85619503 + Splice_Site SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:85619503T>A uc004amo.1 - 9 1375 c.1114_splice c.e9-1 p.H372_splice NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 ATTTATATGCTGTAATATAGA 0.323 6 54 --- --- --- --- PASS UBQLN1 29979 broad.mit.edu 37 9 86293468 86293468 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:86293468C>A uc004amv.2 - 5 1332 c.758G>T c.(757-759)AGG>ATG p.R253M UBQLN1_uc004amw.2_Missense_Mutation_p.R253M NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN ubiquilin 1 isoform 1 253 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding 0 GTCCTGGTTCCTCATCATCTC 0.418 12 357 --- --- --- --- PASS HNRNPK 3190 broad.mit.edu 37 9 86588865 86588865 + Silent SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:86588865A>C uc004ang.3 - 8 578 c.354T>G c.(352-354)ACT>ACG p.T118T HNRNPK_uc011lsw.1_5'UTR|HNRNPK_uc004and.3_5'UTR|HNRNPK_uc004ank.3_Silent_p.T118T|HNRNPK_uc004anf.3_Silent_p.T118T|HNRNPK_uc004anh.3_Intron|HNRNPK_uc011lsx.1_Intron|HNRNPK_uc004ani.3_Silent_p.T118T|HNRNPK_uc004anj.3_Silent_p.T118T|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Silent_p.T118T|HNRNPK_uc004anm.3_Silent_p.T118T NM_031262 NP_112552 P61978 HNRPK_HUMAN heterogeneous nuclear ribonucleoprotein K 118 5 X 4 AA repeats of G-X-G-G.|Necessary for interaction with DDX1.|2 X 22 AA approximate repeats.|Interaction with ASFV p30. interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding skin(1) 1 GGCTGGTTGCAGTGGGTGATG 0.468 12 35 --- --- --- --- PASS FAM120A 23196 broad.mit.edu 37 9 96259804 96259804 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:96259804G>T uc004atw.2 + 4 881 c.856G>T c.(856-858)GTT>TTT p.V286F FAM120A_uc004atv.2_Missense_Mutation_p.V286F|FAM120A_uc004atx.2_Missense_Mutation_p.V68F|FAM120A_uc004aty.2_Missense_Mutation_p.V68F NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 286 cytoplasm|plasma membrane RNA binding 0 GATCAAAGCCGTTGCTGACTA 0.463 7 43 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104309491 104309491 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:104309491C>A uc004bbn.2 + 8 1057 c.967C>A c.(967-969)CGG>AGG p.R323R NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 323 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TATCAATGCTCGGAAGGTAAA 0.433 5 104 --- --- --- --- PASS SMC2 10592 broad.mit.edu 37 9 106891965 106891965 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:106891965G>T uc004bbv.2 + 21 3118 c.2830G>T c.(2830-2832)GAG>TAG p.E944* SMC2_uc004bbw.2_Nonsense_Mutation_p.E944*|SMC2_uc011lvl.1_Nonsense_Mutation_p.E944*|SMC2_uc004bbx.2_Nonsense_Mutation_p.E944*|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 944 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 GATTAATGCAGAGAGACACCT 0.368 9 175 --- --- --- --- PASS C9orf84 158401 broad.mit.edu 37 9 114520464 114520464 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:114520464G>A uc004bfr.2 - 5 551 c.416C>T c.(415-417)TCT>TTT p.S139F C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.S203F|C9orf84_uc004bfq.2_Missense_Mutation_p.S100F|C9orf84_uc010mug.2_Missense_Mutation_p.S85F NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 139 ovary(2) 2 TTCTTGAAGAGAGAAACATTC 0.264 5 31 --- --- --- --- PASS SLC31A1 1317 broad.mit.edu 37 9 116022625 116022625 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:116022625C>A uc004bgu.2 + 5 631 c.445C>A c.(445-447)CTC>ATC p.L149I FKBP15_uc010muu.1_Intron|SLC31A1_uc004bgv.3_Intron NM_001859 NP_001850 O15431 COPT1_HUMAN solute carrier family 31 (copper transporters), 149 Helical; (Potential). integral to plasma membrane copper ion transmembrane transporter activity 0 AAGCTACTTCCTCATGCTCAT 0.512 8 74 --- --- --- --- PASS OR1J4 26219 broad.mit.edu 37 9 125281654 125281654 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:125281654C>A uc011lyw.1 + 1 235 c.235C>A c.(235-237)CCA>ACA p.P79T NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 79 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTCACTGTCCCAAAGATGTT 0.438 7 126 --- --- --- --- PASS HSPA5 3309 broad.mit.edu 37 9 127999307 127999307 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:127999307C>A uc004bpn.2 - 8 1785 c.1529G>T c.(1528-1530)CGA>CTA p.R510L NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 510 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) AGCTGTCACTCGAAGAATACC 0.443 Prostate(1;0.17) 6 122 --- --- --- --- PASS HSPA5 3309 broad.mit.edu 37 9 128001526 128001526 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:128001526G>A uc004bpn.2 - 5 946 c.690C>T c.(688-690)TTC>TTT p.F230F NM_005347 NP_005338 P11021 GRP78_HUMAN heat shock 70kDa protein 5 230 anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding ovary(3)|skin(1) 4 Antihemophilic Factor(DB00025) GAGACACATCGAAGGTTCCGC 0.488 Prostate(1;0.17) 10 27 --- --- --- --- PASS DOLPP1 57171 broad.mit.edu 37 9 131846978 131846978 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:131846978G>T uc004bxc.2 + 2 136 c.108G>T c.(106-108)CTG>CTT p.L36L DOLPP1_uc004bxd.2_Silent_p.L36L|DOLPP1_uc004bxe.2_RNA|DOLPP1_uc004bxf.2_5'Flank NM_020438 NP_065171 Q86YN1 DOPP1_HUMAN dolichyl pyrophosphate phosphatase 1 isoform a 36 Helical; (Potential). dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane dolichyldiphosphatase activity skin(1) 1 TTGCCTACCTGAGCCTCAGCC 0.567 10 264 --- --- --- --- PASS TOR1B 27348 broad.mit.edu 37 9 132566464 132566464 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:132566464C>A uc004byk.1 + 2 372 c.312C>A c.(310-312)ACC>ACA p.T104T NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 104 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) AACCACTGACCCTTTCCTTAC 0.468 7 82 --- --- --- --- PASS TOR1A 1861 broad.mit.edu 37 9 132576405 132576405 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:132576405C>A uc004byl.2 - 5 922 c.845G>T c.(844-846)CGA>CTA p.R282L TOR1A_uc004bym.2_RNA NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 282 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) CATTTCCACTCGGATACACAT 0.453 6 122 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135145048 135145048 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:135145048C>A uc004cbk.2 - 25 7424 c.7241G>T c.(7240-7242)CGA>CTA p.R2414L SETX_uc004cbj.2_Missense_Mutation_p.R2033L|SETX_uc010mzt.2_Missense_Mutation_p.R2000L NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2414 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GTACTTGGCTCGTGTGATGGT 0.438 7 211 --- --- --- --- PASS SETX 23064 broad.mit.edu 37 9 135218091 135218091 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:135218091G>T uc004cbk.2 - 5 667 c.484C>A c.(484-486)CAT>AAT p.H162N NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 162 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) TCATTGGGATGGACTAAAAAC 0.393 9 207 --- --- --- --- PASS TSC1 7248 broad.mit.edu 37 9 135796754 135796754 + Silent SNP G T T rs118203434 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:135796754G>T uc004cca.2 - 8 967 c.733C>A c.(733-735)CGA>AGA p.R245R TSC1_uc004ccb.3_Silent_p.R245R|TSC1_uc011mcq.1_Silent_p.R194R|TSC1_uc011mcr.1_Silent_p.R124R|TSC1_uc011mcs.1_Silent_p.R124R|TSC1_uc004ccc.1_Silent_p.R245R|TSC1_uc004ccd.2_Silent_p.R245R|TSC1_uc004cce.1_Silent_p.R245R NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 245 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTATACCTTCGAGGGTCCAGT 0.393 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 5 55 --- --- --- --- PASS CAMSAP1 157922 broad.mit.edu 37 9 138714106 138714106 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr9:138714106G>T uc004cgr.3 - 11 2401 c.2401C>A c.(2401-2403)CAG>AAG p.Q801K CAMSAP1_uc004cgq.3_Missense_Mutation_p.Q691K|CAMSAP1_uc010nbg.2_Missense_Mutation_p.Q523K NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 801 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CTGCTCATCTGAGAGGCTGTG 0.577 7 105 --- --- --- --- PASS NET1 10276 broad.mit.edu 37 10 5495514 5495514 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:5495514C>A uc001iia.2 + 8 897 c.759C>A c.(757-759)CTC>CTA p.L253L NET1_uc010qar.1_Silent_p.L72L|NET1_uc001iib.2_Silent_p.L199L|NET1_uc010qas.1_Silent_p.L72L NM_001047160 NP_001040625 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming gene 1 isoform 253 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(1) 1 GTCACATTCTCGTGAGCTGGG 0.413 5 68 --- --- --- --- PASS DHTKD1 55526 broad.mit.edu 37 10 12159705 12159705 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:12159705G>T uc001ild.3 + 14 2452 c.2353G>T c.(2353-2355)GGA>TGA p.G785* NM_018706 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain 785 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding ovary(1)|central_nervous_system(1) 2 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) AATGGCACCAGGAACAACATT 0.428 7 126 --- --- --- --- PASS CAMK1D 57118 broad.mit.edu 37 10 12856243 12856243 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:12856243G>T uc001ilo.2 + 7 926 c.691G>T c.(691-693)GAG>TAG p.E231* CAMK1D_uc001iln.2_Nonsense_Mutation_p.E231* NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN calcium/calmodulin-dependent protein kinase ID 231 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|stomach(1) 2 GBM - Glioblastoma multiforme(1;3.16e-05) CAAGCTCTTTGAGCAGATCCT 0.512 6 64 --- --- --- --- PASS SEPHS1 22929 broad.mit.edu 37 10 13361282 13361282 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:13361282C>A uc001imk.2 - 9 1398 c.1039G>T c.(1039-1041)GAA>TAA p.E347* SEPHS1_uc001imh.2_Nonsense_Mutation_p.E271*|SEPHS1_uc010qbs.1_Nonsense_Mutation_p.E299*|SEPHS1_uc001imi.2_Nonsense_Mutation_p.E345*|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Nonsense_Mutation_p.E280* NM_012247 NP_036379 P49903 SPS1_HUMAN selenophosphate synthetase 1 347 protein modification process ATP binding|GTP binding|selenide, water dikinase activity skin(1) 1 TGGTGGCCTTCACCATATTTG 0.507 9 265 --- --- --- --- PASS OLAH 55301 broad.mit.edu 37 10 15107628 15107628 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:15107628G>A uc001inu.2 + 6 702 c.448G>A c.(448-450)GAA>AAA p.E150K ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.E203K NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 150 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 ATTGTCAGAAGAACAAATAAG 0.413 8 55 --- --- --- --- PASS OLAH 55301 broad.mit.edu 37 10 15115133 15115133 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:15115133G>C uc001inu.2 + 8 957 c.703G>C c.(703-705)GGG>CGG p.G235R ACBD7_uc010qby.1_Intron|OLAH_uc001int.2_Missense_Mutation_p.G288R NM_001039702 NP_001034791 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase isoform 2 235 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity 0 CCAGCTTCCAGGGGGTCACTT 0.343 11 85 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16955880 16955880 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:16955880C>A uc001ioo.2 - 48 7515 c.7463G>T c.(7462-7464)AGG>ATG p.R2488M NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2488 CUB 18. 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) GGTGATCCGCCTTCCCTCCGG 0.522 20 72 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 22002776 22002776 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:22002776C>T uc001iqs.2 + 15 2171 c.1823C>T c.(1822-1824)TCC>TTC p.S608F MLLT10_uc001iqt.2_Missense_Mutation_p.S592F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S592F|MLLT10_uc001ira.2_Missense_Mutation_p.S49F|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 608 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 ACTCCTGTCTCCAGCTCTCAC 0.448 T MLL|PICALM|CDK6 AL 16 78 --- --- --- --- PASS BMI1 648 broad.mit.edu 37 10 22615393 22615393 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:22615393G>T uc001irh.2 + 2 654 c.15G>T c.(13-15)ACG>ACT p.T5T BMI1_uc009xkg.2_Silent_p.T148T NM_005180 NP_005171 P35226 BMI1_HUMAN BMI1 polycomb ring finger oncogene 5 hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex RING-like zinc finger domain binding|zinc ion binding ovary(1)|skin(1) 2 ATCGAACAACGAGAATCAAGA 0.388 5 63 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30316780 30316780 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:30316780C>A uc001iux.2 - 2 2356 c.2297G>T c.(2296-2298)AGG>ATG p.R766M KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R628M|KIAA1462_uc009xle.1_Missense_Mutation_p.R766M NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 766 ovary(4) 4 CAAGGAAGTCCTTGAGAACGC 0.607 5 21 --- --- --- --- PASS KIF5B 3799 broad.mit.edu 37 10 32324501 32324501 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:32324501G>T uc001iwe.3 - 10 1381 c.911C>A c.(910-912)CCA>CAA p.P304Q NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 304 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) GTATGATGATGGAGAGCAGCA 0.338 8 100 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37438709 37438709 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:37438709C>A uc001iza.1 + 11 1508 c.1409C>A c.(1408-1410)GCC>GAC p.A470D NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 526 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ATTTAGCCTGCCATTGAAATG 0.279 34 173 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55912957 55912957 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:55912957C>T uc001jju.1 - 14 2082 c.1687G>A c.(1687-1689)GGG>AGG p.G563R PCDH15_uc010qhq.1_Missense_Mutation_p.G568R|PCDH15_uc010qhr.1_Missense_Mutation_p.G563R|PCDH15_uc010qhs.1_Missense_Mutation_p.G575R|PCDH15_uc010qht.1_Missense_Mutation_p.G570R|PCDH15_uc010qhu.1_Missense_Mutation_p.G563R|PCDH15_uc001jjv.1_Missense_Mutation_p.G541R|PCDH15_uc010qhv.1_Missense_Mutation_p.G563R|PCDH15_uc010qhw.1_Missense_Mutation_p.G526R|PCDH15_uc010qhx.1_Missense_Mutation_p.G563R|PCDH15_uc010qhy.1_Missense_Mutation_p.G568R|PCDH15_uc010qhz.1_Missense_Mutation_p.G563R|PCDH15_uc010qia.1_Missense_Mutation_p.G541R|PCDH15_uc010qib.1_Missense_Mutation_p.G541R|PCDH15_uc001jjw.2_Missense_Mutation_p.G563R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 563 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GTGATAAGCCCTGTTGTTTTA 0.527 HNSCC(58;0.16) 7 51 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55913005 55913005 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:55913005C>A uc001jju.1 - 14 2034 c.1639G>T c.(1639-1641)GAA>TAA p.E547* PCDH15_uc010qhq.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.E559*|PCDH15_uc010qht.1_Nonsense_Mutation_p.E554*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.E547*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E510*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E552*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E547*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E525*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E525*|PCDH15_uc001jjw.2_Nonsense_Mutation_p.E547* NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 547 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) ACAAGGATTTCATATGTGATC 0.478 HNSCC(58;0.16) 17 64 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61011407 61011407 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:61011407G>T uc001jkn.2 - 14 1696 c.1562C>A c.(1561-1563)ACT>AAT p.T521N FAM13C_uc001jko.2_Missense_Mutation_p.T423N|FAM13C_uc010qid.1_Missense_Mutation_p.T437N|FAM13C_uc010qie.1_Missense_Mutation_p.T438N|FAM13C_uc010qif.1_Missense_Mutation_p.T543N NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 521 ovary(2) 2 GTCAGCCCTAGTTTCTCGGAG 0.393 7 164 --- --- --- --- PASS NRBF2 29982 broad.mit.edu 37 10 64893254 64893254 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:64893254C>A uc001jmj.3 + 1 248 c.24C>A c.(22-24)CTC>CTA p.L8L NRBF2_uc010qip.1_Missense_Mutation_p.Q27K NM_030759 NP_110386 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 8 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding 0 Prostate(12;0.0119)|all_hematologic(501;0.191) AAGGACCCCTCAACCTGGTGA 0.632 4 12 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 69299393 69299393 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:69299393T>C uc009xpn.1 - 4 450 c.327A>G c.(325-327)ACA>ACG p.T109T CTNNA3_uc001jmw.2_Silent_p.T109T|CTNNA3_uc001jmx.3_Silent_p.T109T|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Silent_p.T121T NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 109 Potential. cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AGGGGTCATCTGTAAATCTCT 0.443 10 53 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 69299394 69299394 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:69299394G>T uc009xpn.1 - 4 449 c.326C>A c.(325-327)ACA>AAA p.T109K CTNNA3_uc001jmw.2_Missense_Mutation_p.T109K|CTNNA3_uc001jmx.3_Missense_Mutation_p.T109K|CTNNA3_uc009xpo.1_Intron|CTNNA3_uc001jna.2_Missense_Mutation_p.T121K NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 109 Potential. cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GGGGTCATCTGTAAATCTCTC 0.443 11 52 --- --- --- --- PASS SIRT1 23411 broad.mit.edu 37 10 69651214 69651214 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:69651214C>A uc001jnd.2 + 4 897 c.844C>A c.(844-846)CGC>AGC p.R282S SIRT1_uc010qis.1_5'UTR|SIRT1_uc009xpp.2_Missense_Mutation_p.R90S|SIRT1_uc001jne.2_5'UTR NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 282 Deacetylase sirtuin-type. apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 TATTTATGCTCGCCTTGCTGT 0.378 6 142 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70411606 70411606 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:70411606G>T uc001jok.3 + 5 4785 c.4280G>T c.(4279-4281)CGA>CTA p.R1427L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1427 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCCACAGATCGAGTTATACAA 0.418 6 162 --- --- --- --- PASS STOX1 219736 broad.mit.edu 37 10 70644837 70644837 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:70644837C>A uc001jos.2 + 3 1372 c.1285C>A c.(1285-1287)CGA>AGA p.R429R STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.R319R NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 429 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 GGGCCATTCTCGAAGGGATAG 0.512 6 154 --- --- --- --- PASS CAMK2G 818 broad.mit.edu 37 10 75620621 75620621 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:75620621G>T uc001jvv.1 - 3 287 c.163C>A c.(163-165)CGG>AGG p.R55R CAMK2G_uc001jvm.1_Silent_p.R63R|CAMK2G_uc001jvo.1_Silent_p.R63R|CAMK2G_uc001jvq.1_Silent_p.R63R|CAMK2G_uc001jvr.1_Silent_p.R63R|CAMK2G_uc001jvp.1_Silent_p.R63R|CAMK2G_uc001jvs.1_Silent_p.R63R|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.R63R|CAMK2G_uc010qkv.1_5'UTR NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 63 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) CGACATATCCGAGCCTCACGT 0.433 5 122 --- --- --- --- PASS SAMD8 142891 broad.mit.edu 37 10 76928351 76928351 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:76928351C>A uc001jwx.1 + 4 830 c.727C>A c.(727-729)CGC>AGC p.R243S SAMD8_uc001jwy.1_Missense_Mutation_p.R243S NM_144660 NP_653261 Q96LT4 SAMD8_HUMAN sterile alpha motif domain containing 8 243 Helical; (Potential). sphingomyelin biosynthetic process integral to membrane 0 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) ATTCTTGCTTCGCTGCTTTAC 0.453 5 118 --- --- --- --- PASS IFIT5 24138 broad.mit.edu 37 10 91177842 91177842 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:91177842C>A uc010qnh.1 + 2 1117 c.886C>A c.(886-888)CAA>AAA p.Q296K IFIT5_uc010qng.1_Missense_Mutation_p.Q248K NM_012420 NP_036552 Q13325 IFIT5_HUMAN interferon-induced protein with 296 binding 0 CTACAGGGCACAAATGATCCA 0.408 6 79 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96018841 96018841 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:96018841G>T uc001kjk.2 + 13 4382 c.3748G>T c.(3748-3750)GAG>TAG p.E1250* PLCE1_uc010qnx.1_Nonsense_Mutation_p.E1234*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.E942* NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1250 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ATCTGGCTCCGAGTCAGCCCC 0.483 5 78 --- --- --- --- PASS TCTN3 26123 broad.mit.edu 37 10 97423886 97423886 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:97423886C>T uc001klb.3 - 14 2006 c.1762G>A c.(1762-1764)GTC>ATC p.V588I TCTN3_uc001kla.3_Missense_Mutation_p.V432I|TCTN3_uc010qoi.1_Missense_Mutation_p.V440I NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 588 Helical; (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) ATGGGAGAGACTGAGCATTTT 0.438 41 101 --- --- --- --- PASS EXOSC1 51013 broad.mit.edu 37 10 99198446 99198446 + Missense_Mutation SNP C A A rs141065374 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:99198446C>A uc001kni.2 - 5 352 c.326G>T c.(325-327)CGA>CTA p.R109L EXOSC1_uc009xvp.1_Intron NM_016046 NP_057130 Q9Y3B2 EXOS1_HUMAN exosomal core protein CSL4 109 S1 motif. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding 0 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) TTCAGTTGCTCGGACATCTTC 0.229 8 269 --- --- --- --- PASS FAM178A 55719 broad.mit.edu 37 10 102716225 102716225 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:102716225C>A uc001krt.3 + 18 3890 c.3348C>A c.(3346-3348)CTC>CTA p.L1116L FAM178A_uc001krs.2_Silent_p.L1116L NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 1116 0 TTGTGCTACTCTGTGGGGCTT 0.308 8 124 --- --- --- --- PASS SUFU 51684 broad.mit.edu 37 10 104352370 104352370 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:104352370C>A uc001kvy.1 + 4 632 c.486C>A c.(484-486)TCC>TCA p.S162S SUFU_uc001kvw.1_Silent_p.S162S|SUFU_uc001kvx.2_Silent_p.S162S NM_016169 NP_057253 Q9UMX1 SUFU_HUMAN suppressor of fused 162 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding central_nervous_system(4)|skin(2)|breast(1) 7 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) ACCATGTGTCCTGGCACAGCC 0.542 D|F|S medulloblastoma medulloblastoma Medulloblastoma_associated_with_Germline_SUFU_Mutation 6 69 --- --- --- --- PASS TAF5 6877 broad.mit.edu 37 10 105147936 105147936 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:105147936C>A uc001kwv.2 + 11 2382 c.2359C>A c.(2359-2361)CGA>AGA p.R787R TAF5_uc010qqq.1_Silent_p.R732R NM_006951 NP_008882 Q15542 TAF5_HUMAN TBP-associated factor 5 787 R -> L (in Ref. 8; AAH52268). histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2) 2 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) TCATTTTACTCGAAGAAACCT 0.378 5 49 --- --- --- --- PASS SLK 9748 broad.mit.edu 37 10 105778545 105778545 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:105778545G>T uc001kxo.1 + 15 3045 c.3011G>T c.(3010-3012)CGA>CTA p.R1004L SLK_uc001kxp.1_Missense_Mutation_p.R973L NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 1004 Potential. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTTCTAGCTCGAGAAGCTGCA 0.353 5 87 --- --- --- --- PASS C10orf79 80217 broad.mit.edu 37 10 105921789 105921789 + Missense_Mutation SNP G T T rs145489927 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:105921789G>T uc001kxw.2 - 26 3460 c.3344C>A c.(3343-3345)ACA>AAA p.T1115K C10orf79_uc009xxq.2_Missense_Mutation_p.T423K NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 1115 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCGGAGTCTTGTACTGGCATC 0.468 7 154 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118352021 118352021 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:118352021G>A uc001lco.1 + 4 316 c.298G>A c.(298-300)GGA>AGA p.G100R PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G100R|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.G100R|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 100 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) CATAGACAAAGGAGATGAGAG 0.483 32 62 --- --- --- --- PASS PNLIPRP1 5407 broad.mit.edu 37 10 118352022 118352022 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:118352022G>T uc001lco.1 + 4 317 c.299G>T c.(298-300)GGA>GTA p.G100V PNLIPRP1_uc001lcp.2_Missense_Mutation_p.G100V|PNLIPRP1_uc001lcn.2_Missense_Mutation_p.G100V|PNLIPRP1_uc009xys.1_RNA NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 100 lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) ATAGACAAAGGAGATGAGAGC 0.478 32 61 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124399962 124399962 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:124399962G>T uc001lgk.1 + 52 7068 c.6962G>T c.(6961-6963)AGT>ATT p.S2321I DMBT1_uc001lgl.1_Missense_Mutation_p.S2311I|DMBT1_uc001lgm.1_Missense_Mutation_p.S1693I|DMBT1_uc009xzz.1_Missense_Mutation_p.S2320I|DMBT1_uc010qtx.1_Missense_Mutation_p.S1041I|DMBT1_uc009yab.1_Missense_Mutation_p.S1024I|DMBT1_uc009yac.1_Missense_Mutation_p.S615I NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2321 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTAATCCGGAGTGGGTAAGGA 0.433 4 21 --- --- --- --- PASS BUB3 9184 broad.mit.edu 37 10 124921780 124921780 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:124921780G>T uc001lhe.2 + 6 847 c.605G>T c.(604-606)CGA>CTA p.R202L BUB3_uc009yah.2_Missense_Mutation_p.R154L|BUB3_uc001lhf.3_Missense_Mutation_p.R202L|BUB3_uc001lhd.2_Missense_Mutation_p.R202L|BUB3_uc010qud.1_Missense_Mutation_p.R122L NM_004725 NP_004716 O43684 BUB3_HUMAN budding uninhibited by benzimidazoles 3 isoform 202 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding ovary(1) 1 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) ATTGAAGGCCGAGTGGCAGTT 0.393 8 191 --- --- --- --- PASS MKI67 4288 broad.mit.edu 37 10 129903464 129903464 + Nonsense_Mutation SNP C A A rs148027445 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:129903464C>A uc001lke.2 - 13 6835 c.6640G>T c.(6640-6642)GAG>TAG p.E2214* MKI67_uc001lkf.2_Nonsense_Mutation_p.E1854*|MKI67_uc009yav.1_Nonsense_Mutation_p.E1789*|MKI67_uc009yaw.1_Nonsense_Mutation_p.E1364* NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2214 16 X 122 AA approximate repeats.|11. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTAGTTTTCTCATGAGTCGTG 0.498 11 163 --- --- --- --- PASS GLRX3 10539 broad.mit.edu 37 10 131959237 131959237 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr10:131959237G>T uc001lkm.1 + 4 476 c.454G>T c.(454-456)GGA>TGA p.G152* GLRX3_uc001lkn.1_Nonsense_Mutation_p.G152*|GLRX3_uc001lko.2_RNA NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 152 Glutaredoxin 1. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) GTTTATGAAAGGAACTCCTCA 0.453 7 64 --- --- --- --- PASS CD81 975 broad.mit.edu 37 11 2415351 2415351 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:2415351G>A uc001lwf.1 + 3 441 c.208G>A c.(208-210)GCT>ACT p.A70T CD81_uc001lwg.1_Missense_Mutation_p.A63T|CD81_uc001lwh.1_5'Flank NM_004356 NP_004347 P60033 CD81_HUMAN CD81 antigen 70 Helical; (Potential). activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor integral to plasma membrane protein binding 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191) CGCTGTGGGCGCTGTCATGAT 0.652 5 27 --- --- --- --- PASS OR52I2 143502 broad.mit.edu 37 11 4608225 4608225 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:4608225G>T uc010qyh.1 + 1 183 c.183G>T c.(181-183)CTG>CTT p.L61L NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 61 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTATCTCACTGAGTGCCATGT 0.498 7 133 --- --- --- --- PASS OR52I2 143502 broad.mit.edu 37 11 4608295 4608295 + Silent SNP C A A rs140300674 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:4608295C>A uc010qyh.1 + 1 253 c.253C>A c.(253-255)CGG>AGG p.R85R NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 85 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATTCCACTCGGCATGAGCC 0.498 6 135 --- --- --- --- PASS OR52D1 390066 broad.mit.edu 37 11 5510553 5510553 + Missense_Mutation SNP C A A rs142747961 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:5510553C>A uc010qzg.1 + 1 617 c.617C>A c.(616-618)GCT>GAT p.A206D HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTAACTGTGGCTCTGCTGGCC 0.493 20 102 --- --- --- --- PASS DNHD1 144132 broad.mit.edu 37 11 6519958 6519958 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:6519958G>T uc001mdw.3 + 3 1077 c.513G>T c.(511-513)CAG>CAT p.Q171H DNHD1_uc001mdp.2_Missense_Mutation_p.Q171H NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 171 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGCAGGCCCAGTGGAGCAGGC 0.607 5 58 --- --- --- --- PASS RRP8 23378 broad.mit.edu 37 11 6621950 6621950 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:6621950C>T uc001med.2 - 5 1182 c.1103G>A c.(1102-1104)GGA>GAA p.G368E NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 368 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 GATGTTGGTTCCCATCAGTGA 0.493 10 66 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6650040 6650040 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:6650040G>T uc001mem.1 - 13 5593 c.5183C>A c.(5182-5184)TCA>TAA p.S1728* NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 1728 Cadherin 16.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGAGGAGGTGAGCCCCTGTC 0.527 4 7 --- --- --- --- PASS STK33 65975 broad.mit.edu 37 11 8486319 8486319 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:8486319G>T uc001mgi.1 - 3 1309 c.390C>A c.(388-390)GTC>GTA p.V130V STK33_uc001mgj.1_Silent_p.V130V|STK33_uc001mgk.1_Silent_p.V130V|STK33_uc010rbn.1_Silent_p.V89V|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 130 Protein kinase.|ATP (By similarity). Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TCGCTTCAATGACTATTCCAA 0.388 7 111 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17333433 17333433 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:17333433G>T uc001mmw.2 + 9 1020 c.775G>T c.(775-777)GGA>TGA p.G259* NUCB2_uc001mmv.1_Nonsense_Mutation_p.G259*|NUCB2_uc009ygz.2_Nonsense_Mutation_p.G259* NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 259 1.|Binds to necdin (By similarity).|EF-hand 1. cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 CAATAGTGATGGATTCCTGGA 0.264 10 227 --- --- --- --- PASS USH1C 10083 broad.mit.edu 37 11 17554802 17554802 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:17554802T>C uc001mnf.2 - 2 213 c.104A>G c.(103-105)CAG>CGG p.Q35R USH1C_uc001mne.2_Missense_Mutation_p.Q35R|USH1C_uc009yhb.2_Missense_Mutation_p.Q35R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_5'UTR NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 35 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 GCACACTTACTGGTGGTACAT 0.502 4 23 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 21592429 21592429 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:21592429C>A uc001mqe.2 + 18 2253 c.2100C>A c.(2098-2100)CAC>CAA p.H700Q NELL1_uc001mqf.2_Missense_Mutation_p.H653Q|NELL1_uc009yid.2_Missense_Mutation_p.H728Q|NELL1_uc010rdo.1_Missense_Mutation_p.H643Q|NELL1_uc010rdp.1_Missense_Mutation_p.H413Q|NELL1_uc001mqh.2_Missense_Mutation_p.H245Q NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 700 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 AAAATGGTCACAAGCTGTATC 0.463 6 116 --- --- --- --- PASS FANCF 2188 broad.mit.edu 37 11 22646316 22646316 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:22646316C>A uc001mql.1 - 1 1072 c.1041G>T c.(1039-1041)TGG>TGT p.W347C NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 347 DNA repair nucleoplasm protein binding skin(1) 1 AGAGGTCTGTCCAGATGCTAA 0.468 N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 110 --- --- --- --- PASS SLC5A12 159963 broad.mit.edu 37 11 26718757 26718757 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:26718757C>A uc001mra.2 - 8 1307 c.994G>T c.(994-996)GGA>TGA p.G332* SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Nonsense_Mutation_p.G332* NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 332 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 CCTGGCAGTCCTGGCATTGTG 0.358 7 112 --- --- --- --- PASS EIF3M 10480 broad.mit.edu 37 11 32616471 32616471 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:32616471G>T uc001mtu.2 + 7 672 c.629G>T c.(628-630)CGA>CTA p.R210L EIF3M_uc010ref.1_Missense_Mutation_p.R78L NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, 210 RA -> EP (in Ref. 2; AAC17108). eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) TGTATTGTACGAGCATTGAAA 0.328 5 85 --- --- --- --- PASS CCDC73 493860 broad.mit.edu 37 11 32697516 32697516 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:32697516G>T uc001mtv.2 - 8 525 c.481C>A c.(481-483)CTG>ATG p.L161M CCDC73_uc001mtw.1_Missense_Mutation_p.L161M NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 161 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) ATTTCACTCAGTTGCTTATGA 0.308 6 125 --- --- --- --- PASS QSER1 79832 broad.mit.edu 37 11 32997982 32997982 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:32997982G>T uc001mty.2 + 13 5437 c.5170G>T c.(5170-5172)GGA>TGA p.G1724* QSER1_uc001mtz.1_Nonsense_Mutation_p.G1485* NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1724 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TGAAAAATTTGGAGAACTTCT 0.353 20 68 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43348096 43348096 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:43348096G>T uc010rfh.1 + 7 963 c.790G>T c.(790-792)GAG>TAG p.E264* API5_uc010rfg.1_Nonsense_Mutation_p.E253*|API5_uc001mxf.2_Nonsense_Mutation_p.E264*|API5_uc010rfi.1_Nonsense_Mutation_p.E210*|API5_uc001mxg.2_Nonsense_Mutation_p.E138* NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 264 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 ATATTTCTGTGAGCAGGTTCT 0.388 8 186 --- --- --- --- PASS ALKBH3 221120 broad.mit.edu 37 11 43923276 43923276 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:43923276G>T uc001mxs.2 + 8 1112 c.669_splice c.e8+1 p.P223_splice ALKBH3_uc009ykp.2_Splice_Site|ALKBH3_uc001mxt.2_Splice_Site|ALKBH3_uc009ykq.2_Splice_Site_p.P76_splice NM_139178 NP_631917 Q96Q83 ALKB3_HUMAN AlkB homolog 3 DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation mitochondrion|nucleoplasm damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 Vitamin C(DB00126) GCCACCACCAGTGAGTATTCT 0.433 Direct_reversal_of_damage 7 76 --- --- --- --- PASS ACCS 84680 broad.mit.edu 37 11 44098922 44098922 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:44098922G>T uc009yks.1 + 7 794 c.650G>T c.(649-651)AGT>ATT p.S217I EXT2_uc010rfo.1_Intron|ACCS_uc010rfm.1_Missense_Mutation_p.Q129H|ACCS_uc010rfn.1_3'UTR|ACCS_uc001mxx.2_Missense_Mutation_p.S217I NM_001127219 NP_001120691 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase 217 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(2)|ovary(1)|lung(1) 4 TACCTGGACAGTGAGGTAAGA 0.562 5 63 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136162 55136162 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:55136162G>C uc010rif.1 + 1 803 c.803G>C c.(802-804)TGT>TCT p.C268S NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 268 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTCTACACCTGTGCATCCCAC 0.423 12 81 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890145 55890145 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:55890145C>A uc001nii.1 + 1 297 c.297C>A c.(295-297)GCC>GCA p.A99A NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) GCTGCTTTGCCCAGATGTTCT 0.443 17 202 --- --- --- --- PASS GLYATL1 92292 broad.mit.edu 37 11 58722700 58722700 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:58722700C>A uc001nnf.2 + 7 741 c.365C>A c.(364-366)TCA>TAA p.S122* uc001nng.1_Intron|GLYATL1_uc001nnh.1_Nonsense_Mutation_p.S153*|GLYATL1_uc001nni.1_Nonsense_Mutation_p.S122*|GLYATL1_uc001nnj.1_Nonsense_Mutation_p.S122* Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 122 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) TTTTCAAAGTCAGTGAAAGTA 0.448 7 113 --- --- --- --- PASS DDB1 1642 broad.mit.edu 37 11 61070621 61070621 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:61070621G>T uc001nrc.3 - 23 3065 c.2839C>A c.(2839-2841)CGA>AGA p.R947R DDB1_uc010rle.1_Silent_p.R258R|DDB1_uc010rlf.1_Silent_p.R947R NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 947 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 TTAAAGTCTCGAGCAATCTTA 0.418 NER 7 101 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65266456 65266456 + RNA SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:65266456G>T uc010roh.1 + 1 c.1224G>T NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 GAAGGTGATCGAATTCCGGTG 0.498 6 111 --- --- --- --- PASS PACS1 55690 broad.mit.edu 37 11 66006656 66006656 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:66006656C>A uc001oha.1 + 21 2471 c.2337C>A c.(2335-2337)TCC>TCA p.S779S PACS1_uc010rou.1_Silent_p.S315S NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 779 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 CTGTGCCCTCCACATCACCAC 0.617 5 31 --- --- --- --- PASS TBX10 347853 broad.mit.edu 37 11 67400523 67400523 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:67400523C>A uc001omp.2 - 5 689 c.601G>T c.(601-603)GTG>TTG p.V201L NM_005995 NP_005986 O75333 TBX10_HUMAN T-box 10 201 T-box. FV -> LL (in Ref. 3; AAC23481). anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CGTGGGTCCACGAAGACCACG 0.562 5 90 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68822717 68822717 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:68822717C>A uc001oos.2 + 4 442 c.326C>A c.(325-327)GCG>GAG p.A109E TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.A109E NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 109 Extracellular (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACCAGCACGGCGGACGTGCGC 0.587 18 46 --- --- --- --- PASS FCHSD2 9873 broad.mit.edu 37 11 72695219 72695219 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:72695219C>A uc009ytl.2 - 8 840 c.619G>T c.(619-621)GCA>TCA p.A207S FCHSD2_uc010rrg.1_Missense_Mutation_p.A47S|FCHSD2_uc001oth.3_Missense_Mutation_p.A151S|FCHSD2_uc001oti.2_Missense_Mutation_p.A166S NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 207 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TCATTCCTTGCGTGGGTAGCT 0.373 16 51 --- --- --- --- PASS P2RY6 5031 broad.mit.edu 37 11 73007627 73007627 + Nonsense_Mutation SNP G T T rs61745521 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:73007627G>T uc001otm.2 + 4 469 c.64G>T c.(64-66)GAG>TAG p.E22* P2RY6_uc001otn.2_Nonsense_Mutation_p.E22*|P2RY6_uc001oto.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otp.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otq.2_Nonsense_Mutation_p.E22*|P2RY6_uc001otr.2_Nonsense_Mutation_p.E22*|P2RY6_uc001ots.2_Nonsense_Mutation_p.E22* NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 22 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 TGTCTACCGCGAGAACTTCAA 0.607 5 83 --- --- --- --- PASS MOGAT2 80168 broad.mit.edu 37 11 75442295 75442295 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:75442295C>G uc010rru.1 + 6 969 c.969C>G c.(967-969)TTC>TTG p.F323L MOGAT2_uc010rrv.1_Missense_Mutation_p.F241L NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 323 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) AACTTAAGTTCAACATCCCTG 0.552 3 42 --- --- --- --- PASS GDPD4 220032 broad.mit.edu 37 11 76969502 76969502 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:76969502C>A uc001oyf.2 - 10 1044 c.793G>T c.(793-795)GAG>TAG p.E265* NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 265 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 GCAGGGTTCTCGCAGGCAGAT 0.458 7 135 --- --- --- --- PASS TYR 7299 broad.mit.edu 37 11 88911731 88911731 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:88911731G>A uc001pcs.2 + 1 692 c.610G>A c.(610-612)GCA>ACA p.A204T NM_000372 NP_000363 P14679 TYRO_HUMAN tyrosinase precursor 204 Lumenal, melanosome (Potential). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TGCCCATGAAGCACCAGCTTT 0.428 Oculocutaneous_Albinism 23 87 --- --- --- --- PASS ANKRD49 54851 broad.mit.edu 37 11 94230054 94230054 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:94230054G>T uc001pew.2 + 2 334 c.195G>T c.(193-195)TTG>TTT p.L65F ANKRD49_uc001pex.2_Missense_Mutation_p.L65F|ANKRD49_uc001pey.2_5'Flank NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN fetal globin inducing factor 65 positive regulation of transcription, DNA-dependent central_nervous_system(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GGTATCGATTGCAAGAAAAAA 0.388 18 80 --- --- --- --- PASS AMOTL1 154810 broad.mit.edu 37 11 94563321 94563321 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:94563321G>T uc001pfb.2 + 5 1689 c.1519G>T c.(1519-1521)GAG>TAG p.E507* AMOTL1_uc001pfc.2_Nonsense_Mutation_p.E457* NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 507 Potential. cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ATTGGAAGGCGAGATTAGAAG 0.418 4 29 --- --- --- --- PASS MTMR2 8898 broad.mit.edu 37 11 95580966 95580966 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:95580966C>A uc001pfu.2 - 10 1344 c.1091G>T c.(1090-1092)CGA>CTA p.R364L MTMR2_uc001pfv.2_Missense_Mutation_p.R292L|MTMR2_uc001pfs.2_Missense_Mutation_p.R292L|MTMR2_uc001pft.2_Missense_Mutation_p.R292L|MTMR2_uc010ruj.1_Missense_Mutation_p.R347L NM_016156 NP_057240 Q13614 MTMR2_HUMAN myotubularin-related protein 2 isoform 1 364 Myotubularin phosphatase. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CTTAAGTTTTCGTAATGATTC 0.398 5 84 --- --- --- --- PASS BIRC2 329 broad.mit.edu 37 11 102221671 102221671 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:102221671C>A uc001pgy.2 + 3 2391 c.992C>A c.(991-993)CCA>CAA p.P331Q BIRC2_uc010ruq.1_Missense_Mutation_p.P282Q|BIRC2_uc010rur.1_Missense_Mutation_p.P331Q NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 331 BIR 3. cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAGTGGTTTCCAAGGTAATTG 0.373 8 157 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102592222 102592222 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:102592222C>A uc001phe.2 - 4 631 c.532G>T c.(532-534)GGA>TGA p.G178* MMP8_uc010rut.1_Nonsense_Mutation_p.G113*|MMP8_uc010ruu.1_Nonsense_Mutation_p.G155* NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 178 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GCAAGGATTCCATTGGGTCCA 0.428 6 56 --- --- --- --- PASS AASDHPPT 60496 broad.mit.edu 37 11 105961333 105961333 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:105961333C>A uc001pjc.1 + 3 605 c.459C>A c.(457-459)ACC>ACA p.T153T AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Silent_p.T6T NM_015423 NP_056238 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde 153 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding 0 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) GAAAGTTTACCAACAAAGAAT 0.289 8 174 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107288944 107288944 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:107288944G>A uc010rvp.1 - 9 1533 c.1503C>T c.(1501-1503)ATC>ATT p.I501I CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 501 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCTCTGCTTTGATAATCTTGG 0.363 19 50 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108044369 108044369 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:108044369G>A uc001pjz.3 - 13 1444 c.1342C>T c.(1342-1344)CCT>TCT p.P448S NPAT_uc001pka.2_Missense_Mutation_p.P243S NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 448 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTCAAATTAGGCACGGACTCA 0.368 14 96 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117647597 117647597 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:117647597G>A uc001prh.1 - 3 602 c.600C>T c.(598-600)AAC>AAT p.N200N DSCAML1_uc001pri.1_Silent_p.N4N NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 140 Extracellular (Potential).|Ig-like C2-type 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGACGGCCACGTTGCCACGCA 0.517 4 24 --- --- --- --- PASS TRAPPC4 51399 broad.mit.edu 37 11 118889906 118889906 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:118889906G>T uc010ryo.1 + 2 494 c.229G>T c.(229-231)GCC>TCC p.A77S RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.1_Missense_Mutation_p.A77S|TRAPPC4_uc010ryp.1_Missense_Mutation_p.A77S|TRAPPC4_uc001pup.2_RNA|TRAPPC4_uc010ryq.1_Missense_Mutation_p.A77S NM_016146 NP_057230 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 77 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) CAGGTACACGGCCGACGGGAA 0.567 5 22 --- --- --- --- PASS THY1 7070 broad.mit.edu 37 11 119290994 119290994 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:119290994G>T uc001pwq.2 - 2 174 c.140C>A c.(139-141)CCC>CAC p.P47H uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.P47H|THY1_uc001pws.2_RNA NM_006288 NP_006279 P04216 THY1_HUMAN Thy-1 cell surface antigen preproprotein 47 Ig-like V-type. angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft GPI anchor binding|integrin binding|Rho GTPase activator activity 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.83e-05) GTACTGGATGGGTGAACTGCT 0.587 5 42 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120329949 120329949 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:120329949G>T uc001pxl.1 + 26 2454 c.2447G>T c.(2446-2448)CGA>CTA p.R816L ARHGEF12_uc009zat.2_Missense_Mutation_p.R797L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R713L|ARHGEF12_uc009zau.1_Missense_Mutation_p.R713L NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 816 DH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTCTATCAGCGAGTATCCAGA 0.378 T MLL AML 7 140 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 120996091 120996091 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:120996091C>T uc010rzo.1 + 7 1284 c.1284C>T c.(1282-1284)GCC>GCT p.A428A NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 428 VWFD 1. 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) TATCTACTGCCGTGGAAACAG 0.473 6 160 --- --- --- --- PASS UBASH3B 84959 broad.mit.edu 37 11 122646964 122646964 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:122646964C>A uc001pyi.3 + 2 559 c.199C>A c.(199-201)CAG>AAG p.Q67K NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 67 UBA. cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AAGAAGTGTTCAGGCAGCATG 0.403 6 62 --- --- --- --- PASS OR10G4 390264 broad.mit.edu 37 11 123887073 123887073 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:123887073G>T uc010sac.1 + 1 792 c.792G>T c.(790-792)ATG>ATT p.M264I NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CAGGCTCCATGGATGCCATGG 0.517 7 46 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123900523 123900523 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:123900523C>A uc001pzp.1 + 1 194 c.194C>A c.(193-195)TCG>TAG p.S65* NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACCAACCTGTCGTTCATTGAC 0.532 5 59 --- --- --- --- PASS EI24 9538 broad.mit.edu 37 11 125450000 125450000 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr11:125450000G>T uc001qca.2 + 8 815 c.573G>T c.(571-573)GTG>GTT p.V191V EI24_uc001qcb.2_Silent_p.V191V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V191V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V177V|EI24_uc010sbf.1_RNA NM_004879 NP_004870 O14681 EI24_HUMAN etoposide induced 2.4 isoform 1 191 Helical; (Potential). apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) GAATGTTTGTGAGTCTCTTTC 0.433 8 177 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 991098 991098 + Silent SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:991098A>C uc001qio.3 + 14 3738 c.3231A>C c.(3229-3231)TCA>TCC p.S1077S WNK1_uc001qip.3_Silent_p.S830S|WNK1_uc001qir.3_Silent_p.S250S NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1077 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ATGTTGCTTCAGGTATGAGTG 0.393 10 40 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 994585 994585 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:994585G>T uc001qio.3 + 19 5122 c.4615G>T c.(4615-4617)GGA>TGA p.G1539* WNK1_uc001qip.3_Nonsense_Mutation_p.G1292*|WNK1_uc001qir.3_Nonsense_Mutation_p.G712* NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1539 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGTACAACTGGATTGGCTTT 0.478 9 236 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 1005356 1005356 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:1005356G>C uc001qio.3 + 24 6210 c.5703G>C c.(5701-5703)GAG>GAC p.E1901D WNK1_uc001qip.3_Missense_Mutation_p.E1653D|WNK1_uc001qir.3_Missense_Mutation_p.E1074D NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1901 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTAGTCCAGAGAGTACCTTGG 0.468 7 53 --- --- --- --- PASS CD163L1 283316 broad.mit.edu 37 12 7550894 7550894 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:7550894A>C uc001qsy.2 - 7 1721 c.1695T>G c.(1693-1695)TGT>TGG p.C565W CD163L1_uc010sge.1_Missense_Mutation_p.C575W NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 565 SRCR 5.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 CTCTGTGTACACAATTATGCT 0.378 17 82 --- --- --- --- PASS NECAP1 25977 broad.mit.edu 37 12 8242616 8242616 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:8242616C>A uc001qtx.2 + 2 258 c.180C>A c.(178-180)CTC>CTA p.L60L NECAP1_uc001qty.2_5'UTR NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 60 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) ATATCAAACTCGAGGATAAAG 0.428 5 96 --- --- --- --- PASS CSDA 8531 broad.mit.edu 37 12 10853928 10853928 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:10853928C>A uc001qyt.2 - 9 1321 c.1078G>T c.(1078-1080)GAG>TAG p.E360* CSDA_uc001qyu.2_Nonsense_Mutation_p.E291* NM_003651 NP_003642 P16989 DBPA_HUMAN cold shock domain protein A isoform a 360 negative regulation of transcription from RNA polymerase II promoter|response to cold cytoplasm|nucleus double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2)|lung(1)|large_intestine(1) 4 Glioma(1;0.155) GCAGGGTTCTCAGTTGGTGCT 0.498 6 69 --- --- --- --- PASS TAS2R46 259292 broad.mit.edu 37 12 11214162 11214162 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:11214162G>T uc001qzp.1 - 1 732 c.732C>A c.(730-732)TCC>TCA p.S244S PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN taste receptor, type 2, member 46 244 Helical; Name=6; (Potential). sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) ACATGATTATGGACAGAAAGT 0.428 9 182 --- --- --- --- PASS TAS2R42 353164 broad.mit.edu 37 12 11338923 11338923 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:11338923C>A uc001qzr.1 - 1 621 c.621G>T c.(619-621)TTG>TTT p.L207F PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 207 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) TATGTCTCACCAAGGACAGAA 0.408 6 87 --- --- --- --- PASS GUCY2C 2984 broad.mit.edu 37 12 14778782 14778782 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:14778782G>T uc001rcd.2 - 21 2454 c.2317C>A c.(2317-2319)CGA>AGA p.R773R NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 773 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 TCCAGGTTTCGAGAATATAGC 0.383 7 136 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18656284 18656284 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:18656284C>A uc001rdt.2 + 22 3079 c.2963C>A c.(2962-2964)CCA>CAA p.P988Q PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.P1029Q|PIK3C2G_uc010sic.1_Missense_Mutation_p.P807Q NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 988 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CTGATAGGACCATTGAAAGAA 0.378 6 46 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21693481 21693481 + Missense_Mutation SNP G A A rs148617918 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:21693481G>A uc001rfb.2 - 14 1927 c.1672C>T c.(1672-1674)CGT>TGT p.R558C NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 558 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 TCTGGAGAACGGAACCGCCTG 0.413 24 86 --- --- --- --- PASS LDHB 3945 broad.mit.edu 37 12 21788614 21788614 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:21788614G>A uc001rfc.2 - 7 885 c.867C>T c.(865-867)TTC>TTT p.F289F LDHB_uc001rfd.2_Silent_p.F289F|LDHB_uc001rfe.2_Silent_p.F289F NM_002300 NP_002291 P07195 LDHB_HUMAN L-lactate dehydrogenase B 289 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|ovary(1) 3 NADH(DB00157) GAAGGCTCAGGAAGACTTCAT 0.403 7 22 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39716583 39716583 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:39716583G>T uc001rly.2 - 27 3704 c.3558C>A c.(3556-3558)CTC>CTA p.L1186L KIF21A_uc001rlv.2_Silent_p.L191L|KIF21A_uc001rlw.2_Silent_p.L503L|KIF21A_uc001rlx.2_Silent_p.L1173L|KIF21A_uc001rlz.2_Silent_p.L1150L|KIF21A_uc010skl.1_Silent_p.L1166L NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1186 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CAACAGGTGTGAGAGGGCCAG 0.502 8 107 --- --- --- --- PASS KIF21A 55605 broad.mit.edu 37 12 39751147 39751147 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:39751147A>T uc001rly.2 - 9 1454 c.1308T>A c.(1306-1308)CGT>CGA p.R436R KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 436 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TAATTCTTACACGCAGGTTAT 0.408 10 87 --- --- --- --- PASS CNTN1 1272 broad.mit.edu 37 12 41323798 41323798 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:41323798C>A uc001rmm.1 + 7 810 c.697C>A c.(697-699)CCT>ACT p.P233T CNTN1_uc009zjy.1_Missense_Mutation_p.P233T|CNTN1_uc001rmn.1_Missense_Mutation_p.P222T|CNTN1_uc001rmo.2_Missense_Mutation_p.P233T NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 233 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) CATTCCAATACCTGAACGTAA 0.368 22 91 --- --- --- --- PASS TMEM117 84216 broad.mit.edu 37 12 44238497 44238497 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:44238497C>A uc001rod.2 + 2 109 c.43C>A c.(43-45)CGC>AGC p.R15S TMEM117_uc001roe.2_5'UTR|TMEM117_uc009zkc.2_Missense_Mutation_p.R15S NM_032256 NP_115632 Q9H0C3 TM117_HUMAN transmembrane protein 117 15 endoplasmic reticulum|integral to membrane 0 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TCCCTGGTCTCGCATGATTGT 0.403 5 103 --- --- --- --- PASS SFRS2IP 9169 broad.mit.edu 37 12 46316732 46316732 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:46316732G>T uc001rox.2 - 13 4399 c.4112C>A c.(4111-4113)TCG>TAG p.S1371* SFRS2IP_uc001row.2_Nonsense_Mutation_p.S1056* NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1371 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GTCTGTCTTCGAGCTATCTGC 0.403 8 168 --- --- --- --- PASS SLC38A1 81539 broad.mit.edu 37 12 46601397 46601397 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:46601397C>A uc001rpa.2 - 7 654 c.396G>T c.(394-396)ATG>ATT p.M132I SLC38A1_uc001rpb.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpc.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpd.2_Missense_Mutation_p.M132I|SLC38A1_uc001rpe.2_Missense_Mutation_p.M132I|SLC38A1_uc010slh.1_Missense_Mutation_p.M105I|SLC38A1_uc009zkj.1_Missense_Mutation_p.M132I NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN amino acid transporter system A1 132 Helical; (Potential). cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity ovary(2)|skin(2)|central_nervous_system(1) 5 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTTCATACACCATGCAGCCTA 0.398 7 128 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48538878 48538878 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:48538878G>T uc001rrc.2 + 21 2227 c.2057G>T c.(2056-2058)TGG>TTG p.W686L PFKM_uc001rra.1_Missense_Mutation_p.W371L|PFKM_uc001rrb.1_Missense_Mutation_p.W757L|PFKM_uc001rrd.2_Missense_Mutation_p.W371L|PFKM_uc001rre.1_Missense_Mutation_p.W686L|PFKM_uc001rrg.1_Missense_Mutation_p.W655L NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 686 W -> C (in GSD7; Japanese). fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GCTATGAACTGGATGTCTGGG 0.493 6 77 --- --- --- --- PASS KRT73 319101 broad.mit.edu 37 12 53009982 53009982 + Missense_Mutation SNP G T T rs116369374 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:53009982G>T uc001sas.2 - 2 665 c.630C>A c.(628-630)AGC>AGA p.S210R NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 210 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCGCACGCTCCTCAGCT 0.622 17 48 --- --- --- --- PASS OR6C75 390323 broad.mit.edu 37 12 55759010 55759010 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:55759010G>T uc010spk.1 + 1 116 c.116G>T c.(115-117)GGG>GTG p.G39V NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 AGTGTGACTGGGAACCTGATC 0.423 8 132 --- --- --- --- PASS SRGAP1 57522 broad.mit.edu 37 12 64410791 64410791 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:64410791C>A uc010ssp.1 + 4 544 c.488C>A c.(487-489)ACG>AAG p.T163K SRGAP1_uc001srt.2_Missense_Mutation_p.T163K|SRGAP1_uc001srv.2_Missense_Mutation_p.T123K NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 163 axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) GAGCTTTATACGGTAAGGACA 0.303 6 91 --- --- --- --- PASS GNS 2799 broad.mit.edu 37 12 65113900 65113900 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:65113900G>T uc001ssg.3 - 13 1652 c.1482C>A c.(1480-1482)ACC>ACA p.T494T GNS_uc001ssf.2_Silent_p.T438T|GNS_uc010ssq.1_Silent_p.T526T|GNS_uc010ssr.1_Silent_p.T474T NM_002076 NP_002067 P15586 GNS_HUMAN glucosamine (N-acetyl)-6-sulfatase precursor 494 lysosome metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding central_nervous_system(1) 1 Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12) LUAD - Lung adenocarcinoma(6;0.115) GBM - Glioblastoma multiforme(28;0.0435) CTGGGTCTATGGTTTTAGCAA 0.448 8 170 --- --- --- --- PASS RAP1B 5908 broad.mit.edu 37 12 69050930 69050930 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:69050930G>T uc001sub.2 + 7 681 c.518G>T c.(517-519)GGG>GTG p.G173V RAP1B_uc010ste.1_Missense_Mutation_p.G107V|RAP1B_uc001suc.2_Missense_Mutation_p.G173V|RAP1B_uc010stf.1_Missense_Mutation_p.G154V|RAP1B_uc010stg.1_Missense_Mutation_p.G131V|RAP1B_uc010sth.1_Missense_Mutation_p.G131V|RAP1B_uc010sti.1_Missense_Mutation_p.G126V NM_001089704 NP_001083173 P61224 RAP1B_HUMAN SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family; 173 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding 0 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) CCAGTGCCTGGGAAGGCTCGC 0.383 8 182 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71286515 71286515 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:71286515C>A uc001swi.1 - 2 717 c.301G>T c.(301-303)GGT>TGT p.G101C NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 101 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) AGATCTTGACCATCCATGGCC 0.448 7 119 --- --- --- --- PASS LGR5 8549 broad.mit.edu 37 12 71978100 71978100 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:71978100G>T uc001swl.2 + 18 2358 c.2310G>T c.(2308-2310)CTG>CTT p.L770L LGR5_uc001swm.2_Silent_p.L746L|LGR5_uc001swn.1_Intron NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 770 Helical; Name=6; (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 ACATTGCCCTGTTGCTCTTCA 0.423 6 99 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513071 78513071 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:78513071C>T uc001syp.2 + 15 3268 c.3095C>T c.(3094-3096)TCA>TTA p.S1032L NAV3_uc001syo.2_Missense_Mutation_p.S1032L|NAV3_uc010sub.1_Missense_Mutation_p.S532L|NAV3_uc009zsf.2_Missense_Mutation_p.S40L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1032 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTAAAAGGATCATCTCTACAA 0.438 HNSCC(70;0.22) 21 109 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78562613 78562613 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:78562613G>T uc001syp.2 + 24 5121 c.4948G>T c.(4948-4950)GGA>TGA p.G1650* NAV3_uc001syo.2_Nonsense_Mutation_p.G1650*|NAV3_uc010sub.1_Nonsense_Mutation_p.G1136*|NAV3_uc009zsf.2_Nonsense_Mutation_p.G481* NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1650 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GGCTATTCAGGGAGCACTGAA 0.378 HNSCC(70;0.22) 7 121 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81111130 81111130 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:81111130G>T uc001szg.2 + 1 423 c.288G>T c.(286-288)CTG>CTT p.L96L NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 96 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GGAGGCGCCTGAAGAAGGTCA 0.602 5 21 --- --- --- --- PASS TMTC2 160335 broad.mit.edu 37 12 83324281 83324281 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:83324281G>T uc001szt.2 + 4 1987 c.1555G>T c.(1555-1557)GCT>TCT p.A519S TMTC2_uc001szr.1_Missense_Mutation_p.A519S|TMTC2_uc001szs.1_Missense_Mutation_p.A519S|TMTC2_uc010suk.1_Missense_Mutation_p.A274S NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 519 TPR 2. endoplasmic reticulum|integral to membrane binding ovary(2) 2 CTATAGAAATGCTTTGTACTA 0.423 5 45 --- --- --- --- PASS POC1B 282809 broad.mit.edu 37 12 89818973 89818973 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:89818973C>A uc001tbc.2 - 11 1402 c.1297G>T c.(1297-1299)GAG>TAG p.E433* POC1B_uc001tba.2_Nonsense_Mutation_p.E391*|POC1B_uc001tbb.2_Nonsense_Mutation_p.E303*|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_RNA NM_172240 NP_758440 Q8TC44 POC1B_HUMAN WD repeat domain 51B 433 Potential. cell projection organization centriole|microtubule basal body ovary(1) 1 ATAATATGCTCTAAAGCATCA 0.428 8 123 --- --- --- --- PASS EEA1 8411 broad.mit.edu 37 12 93251254 93251254 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:93251254C>A uc001tck.2 - 4 518 c.253G>T c.(253-255)GTA>TTA p.V85L NM_003566 NP_003557 Q15075 EEA1_HUMAN early endosome antigen 1, 162kD 85 Potential. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding ovary(2)|skin(1) 3 AGCAGTGTTACATCATCTCTA 0.308 8 245 --- --- --- --- PASS APAF1 317 broad.mit.edu 37 12 99076989 99076989 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:99076989C>T uc001tfz.2 + 15 2692 c.2115C>T c.(2113-2115)TGC>TGT p.C705C APAF1_uc001tfy.2_Silent_p.C694C|APAF1_uc001tga.2_Silent_p.C694C|APAF1_uc001tgb.2_Silent_p.C705C|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.C114C NM_181861 NP_863651 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 isoform 705 WD 3. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding ovary(2)|lung(1) 3 Adenosine triphosphate(DB00171) TCAATTGCTGCCATTTCACCA 0.373 11 72 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104097053 104097053 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:104097053G>T uc001tjw.2 + 35 4028 c.3842G>T c.(3841-3843)CGA>CTA p.R1281L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1281 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ACTATTATACGAGTAAGTTCT 0.368 5 79 --- --- --- --- PASS APPL2 55198 broad.mit.edu 37 12 105597489 105597489 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:105597489C>A uc001tlf.1 - 9 914 c.696G>T c.(694-696)ATG>ATT p.M232I APPL2_uc010swt.1_Missense_Mutation_p.M189I|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.M238I|APPL2_uc009zuq.2_Missense_Mutation_p.M189I NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 232 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 ACCTTTGAACCATGTCTGCAA 0.448 9 135 --- --- --- --- PASS RIC8B 55188 broad.mit.edu 37 12 107236523 107236523 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:107236523C>A uc001tlx.2 + 5 1118 c.993C>A c.(991-993)ACC>ACA p.T331T RIC8B_uc001tlw.2_Silent_p.T331T|RIC8B_uc001tly.2_Silent_p.T291T|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 331 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 AAAACAATACCATGGTATACA 0.398 6 54 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109637324 109637324 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:109637324C>T uc001tob.2 + 18 2864 c.2745C>T c.(2743-2745)CAC>CAT p.H915H ACACB_uc001toc.2_Silent_p.H915H NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 915 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) ATGGGGGCCACGTTGAGGCTG 0.572 14 34 --- --- --- --- PASS SDS 10993 broad.mit.edu 37 12 113830792 113830792 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:113830792C>G uc001tvg.2 - 8 1063 c.941G>C c.(940-942)CGG>CCG p.R314P NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 314 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) CTTGAGCGCCCGCAGCTGGGC 0.622 4 86 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115118836 115118836 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:115118836G>T uc001tvt.1 - 2 1469 c.505C>A c.(505-507)CGG>AGG p.R169R TBX3_uc001tvu.1_Silent_p.R169R|TBX3_uc010syw.1_Silent_p.R169R NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 169 T-box; first part. anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ACCATCCACCGAGAATTGTGA 0.453 5 102 --- --- --- --- PASS POP5 51367 broad.mit.edu 37 12 121017127 121017127 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:121017127C>A uc001tys.2 - 5 518 c.486G>T c.(484-486)ATG>ATT p.M162I POP5_uc001tyt.2_Missense_Mutation_p.M112I NM_015918 NP_057002 Q969H6 POP5_HUMAN processing of precursor 5 isoform a 162 tRNA processing protein binding|ribonuclease P activity 0 all_neural(191;0.077)|Medulloblastoma(191;0.0922) AGGTTCACTCCATTGCTTCTG 0.532 6 49 --- --- --- --- PASS ANAPC5 51433 broad.mit.edu 37 12 121775156 121775156 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:121775156G>T uc001uag.2 - 6 819 c.697C>A c.(697-699)CCA>ACA p.P233T ANAPC5_uc001uae.2_5'Flank|ANAPC5_uc010szv.1_5'Flank|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.P134T|ANAPC5_uc001uai.1_5'UTR NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 233 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AAGGAAGCTGGAGTGAGGGCC 0.358 8 122 --- --- --- --- PASS SBNO1 55206 broad.mit.edu 37 12 123780467 123780467 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:123780467C>A uc010tap.1 - 31 4170 c.4170G>T c.(4168-4170)TTG>TTT p.L1390F SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.L1389F|SBNO1_uc010taq.1_Missense_Mutation_p.L341F NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1390 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATGCGTTGCTCAAGTTGGTGA 0.428 11 241 --- --- --- --- PASS P2RX2 22953 broad.mit.edu 37 12 133198319 133198319 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:133198319G>T uc001ukj.1 + 11 1177 c.1177G>T c.(1177-1179)GTG>TTG p.V393L P2RX2_uc001uki.1_Intron|P2RX2_uc001ukk.1_Missense_Mutation_p.V419L|P2RX2_uc001ukl.1_Missense_Mutation_p.V369L|P2RX2_uc001ukm.1_Missense_Mutation_p.V321L|P2RX2_uc001ukn.1_Missense_Mutation_p.V301L|P2RX2_uc009zyt.1_3'UTR|P2RX2_uc001uko.1_Intron NM_170682 NP_733782 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X2 isoform A 393 Cytoplasmic (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) TAGCTGGCCTGTGACCCTTGC 0.592 4 21 --- --- --- --- PASS SGCG 6445 broad.mit.edu 37 13 23853520 23853520 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:23853520G>C uc001uom.2 + 5 563 c.408G>C c.(406-408)CAG>CAC p.Q136H SGCG_uc009zzv.2_Missense_Mutation_p.Q136H|SGCG_uc009zzw.2_Missense_Mutation_p.Q136H NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 136 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) TAGAAGTCCAGAATCAACAGT 0.388 5 23 --- --- --- --- PASS MIPEP 4285 broad.mit.edu 37 13 24443477 24443477 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:24443477G>T uc001uox.3 - 7 997 c.897C>A c.(895-897)TCC>TCA p.S299S NM_005932 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase precursor 299 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) GAGAAAACGTGGAATACCCCA 0.388 7 92 --- --- --- --- PASS PARP4 143 broad.mit.edu 37 13 25027743 25027743 + Missense_Mutation SNP C A A rs150983352 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:25027743C>A uc001upl.2 - 23 2914 c.2808G>T c.(2806-2808)ATG>ATT p.M936I PARP4_uc010tdc.1_Missense_Mutation_p.M936I NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 936 VWFA. M -> A (in Ref. 2; AAC62491 and 3; BAA11494).|M -> T (in Ref. 1; AAD47250). cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ACTCTGCTGCCATGGTATTGC 0.478 4 57 --- --- --- --- PASS GPR12 2835 broad.mit.edu 37 13 27333755 27333755 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:27333755G>A uc010aal.2 - 2 432 c.210C>T c.(208-210)TTC>TTT p.F70F GPR12_uc010tdl.1_Intron NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 70 Cytoplasmic (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) TGGGGTTGTGGAAGATGATAA 0.532 13 33 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28599066 28599066 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:28599066C>A uc001urw.2 - 18 2304 c.2222G>T c.(2221-2223)AGA>ATA p.R741I FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R741I NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 741 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CTGAACTTCTCTTGAACCAGG 0.303 Mis|O AML|ALL 9 155 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28624272 28624272 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:28624272T>C uc001urw.2 - 6 784 c.702A>G c.(700-702)AGA>AGG p.R234R FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.R234R NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 234 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) CCAGTTCATTTCTGGCACAGC 0.413 Mis|O AML|ALL 16 68 --- --- --- --- PASS EPSTI1 94240 broad.mit.edu 37 13 43528111 43528111 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:43528111C>A uc001uyw.1 - 6 612 c.536G>T c.(535-537)AGA>ATA p.R179I EPSTI1_uc001uyx.1_Missense_Mutation_p.R179I NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 179 Potential. ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) AAATGCTTCTCTTCTAAGGTT 0.333 6 49 --- --- --- --- PASS KPNA3 3839 broad.mit.edu 37 13 50306786 50306786 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:50306786G>T uc001vdj.2 - 5 657 c.242C>A c.(241-243)ACA>AAA p.T81K NM_002267 NP_002258 O00505 IMA3_HUMAN karyopherin alpha 3 81 ARM 1; truncated. interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity 0 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) GTTATCACTTGTGGCATTCTG 0.338 6 128 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986230 61986230 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:61986230C>A uc001vid.3 - 2 2366 c.2002G>T c.(2002-2004)GCT>TCT p.A668S PCDH20_uc010thj.1_Missense_Mutation_p.A668S NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 641 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTTCGTCCAGCGTCAGCATCT 0.448 6 50 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75923357 75923357 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:75923357A>T uc001vjl.1 - 5 1704 c.1357T>A c.(1357-1359)TGT>AGT p.C453S TBC1D4_uc010aer.2_Missense_Mutation_p.C453S|TBC1D4_uc010aes.2_Missense_Mutation_p.C453S NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 453 PID 2. 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) CAGGCCTCACACAGTTTAATC 0.473 6 39 --- --- --- --- PASS CLN5 1203 broad.mit.edu 37 13 77570146 77570146 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:77570146G>T uc001vkc.2 + 3 624 c.596G>T c.(595-597)CGA>CTA p.R199L NM_006493 NP_006484 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 150 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) CCCCATCTCCGACCTGAAATG 0.428 5 89 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77724879 77724879 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:77724879G>T uc001vkf.2 - 48 7098 c.7007C>A c.(7006-7008)ACA>AAA p.T2336K MYCBP2_uc010aev.2_Missense_Mutation_p.T1740K NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2336 Filamin. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTTCATCATTGTTATGGCAAT 0.323 6 69 --- --- --- --- PASS ITGBL1 9358 broad.mit.edu 37 13 102105224 102105224 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:102105224T>C uc001vpb.2 + 1 259 c.40T>C c.(40-42)TCC>CCC p.S14P ITGBL1_uc010agb.2_Missense_Mutation_p.S14P|ITGBL1_uc001vpc.3_5'UTR NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 14 cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTGCTGGCGTCCTCCCTTCT 0.567 3 60 --- --- --- --- PASS EFNB2 1948 broad.mit.edu 37 13 107165088 107165088 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:107165088C>A uc001vqi.2 - 2 220 c.195G>T c.(193-195)GTG>GTT p.V65V NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 65 Extracellular (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TTTTAGAGTCCACTTTGGGGC 0.368 7 117 --- --- --- --- PASS CARS2 79587 broad.mit.edu 37 13 111340110 111340110 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr13:111340110C>A uc001vrd.2 - 5 569 c.529G>T c.(529-531)GAA>TAA p.E177* CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 177 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) ATGATTCCTTCAATGAAAGAA 0.363 11 230 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389679 20389679 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:20389679A>C uc010tkw.1 + 1 914 c.914A>C c.(913-915)TAC>TCC p.Y305S NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 305 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGAACCATTACCTGAGGCCA 0.388 42 67 --- --- --- --- PASS SUPT16H 11198 broad.mit.edu 37 14 21834657 21834657 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:21834657G>T uc001wao.2 - 8 1326 c.987C>A c.(985-987)GTC>GTA p.V329V NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 329 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CCACGTCCATGACAGCGTTAT 0.348 9 220 --- --- --- --- PASS RAB2B 84932 broad.mit.edu 37 14 21931912 21931912 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:21931912C>A uc010tlt.1 - 6 478 c.377G>T c.(376-378)CGC>CTC p.R126L RAB2B_uc010tls.1_Missense_Mutation_p.R80L|RAB2B_uc001wax.2_Missense_Mutation_p.R61L|RAB2B_uc010ain.2_Missense_Mutation_p.R17L NM_032846 NP_116235 Q8WUD1 RAB2B_HUMAN RAB2B protein isoform 1 126 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding ovary(1) 1 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) CACATCCCTGCGGGACTCTAG 0.408 49 66 --- --- --- --- PASS HOMEZ 57594 broad.mit.edu 37 14 23746063 23746063 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:23746063C>A uc001wja.2 - 2 522 c.374G>T c.(373-375)CGA>CTA p.R125L HOMEZ_uc001wjb.2_Missense_Mutation_p.R127L NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) GTAGACTACTCGGGCTCGAGT 0.532 6 98 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237481 29237481 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:29237481G>A uc001wqe.2 + 1 1195 c.996G>A c.(994-996)TCG>TCA p.S332S NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 332 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|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 ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GCACCACGTCGGCCTACCCCA 0.652 15 38 --- --- --- --- PASS G2E3 55632 broad.mit.edu 37 14 31085736 31085736 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:31085736A>G uc001wqk.2 + 15 2271 c.2117A>G c.(2116-2118)CAT>CGT p.H706R G2E3_uc010tpf.1_Missense_Mutation_p.H660R|G2E3_uc001wql.1_Missense_Mutation_p.H218R NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 706 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 TACATTGGACATTAAAATGTT 0.313 31 59 --- --- --- --- PASS HECTD1 25831 broad.mit.edu 37 14 31578712 31578712 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:31578712C>A uc001wrc.1 - 36 6860 c.6371G>T c.(6370-6372)CGA>CTA p.R2124L HECTD1_uc001wra.1_Missense_Mutation_p.R250L|HECTD1_uc001wrb.1_Missense_Mutation_p.R250L NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 2124 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ACGACCAACTCGAAACTCTCC 0.473 5 57 --- --- --- --- PASS ARHGAP5 394 broad.mit.edu 37 14 32560744 32560744 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:32560744G>T uc001wrl.2 + 2 1108 c.869G>T c.(868-870)TGG>TTG p.W290L ARHGAP5_uc001wrm.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wrn.2_Missense_Mutation_p.W290L|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 290 FF 1. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) CATGCAACTTGGAAAACTGTT 0.328 10 218 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33015639 33015639 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:33015639C>A uc001wrq.2 + 4 1950 c.1780C>A c.(1780-1782)CCG>ACG p.P594T AKAP6_uc010aml.2_Missense_Mutation_p.P591T NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 594 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CATCATGTCTCCGGTGCCACT 0.468 6 90 --- --- --- --- PASS CTAGE5 4253 broad.mit.edu 37 14 39818059 39818059 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:39818059G>T uc001wvg.3 + 23 2462 c.2126G>T c.(2125-2127)AGA>ATA p.R709I CTAGE5_uc001wuz.3_Missense_Mutation_p.R697I|CTAGE5_uc001wuy.3_Missense_Mutation_p.R629I|CTAGE5_uc001wvb.3_Missense_Mutation_p.R637I|CTAGE5_uc001wvc.3_Missense_Mutation_p.R611I|CTAGE5_uc001wva.3_Missense_Mutation_p.R680I|CTAGE5_uc001wvh.3_Missense_Mutation_p.R666I|CTAGE5_uc001wvf.3_Missense_Mutation_p.R634I|CTAGE5_uc001wvi.3_Missense_Mutation_p.R714I|CTAGE5_uc010amz.2_Missense_Mutation_p.R325I|CTAGE5_uc001wvj.3_Missense_Mutation_p.R680I NM_005930 NP_005921 O15320 CTGE5_HUMAN CTAGE family, member 5 isoform 1 709 Pro-rich. enzyme activator activity|protein binding 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0475) GTGGATGCAAGAGGCCCATTC 0.527 10 186 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45645264 45645264 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:45645264C>A uc001wwd.3 + 14 3406 c.3307C>A c.(3307-3309)CAC>AAC p.H1103N FANCM_uc010anf.2_Missense_Mutation_p.H1077N|FANCM_uc001wwe.3_Missense_Mutation_p.H639N|FANCM_uc010ang.2_Missense_Mutation_p.H317N NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1103 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TGTTCAAATACACAGAAGCCC 0.358 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 5 58 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47566206 47566206 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:47566206G>C uc001wwj.3 - 6 1035 c.839C>G c.(838-840)TCC>TGC p.S280C MDGA2_uc001wwi.3_Missense_Mutation_p.S51C|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 280 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 AGTCCCAAAGGACCTGACCCA 0.468 23 89 --- --- --- --- PASS NIN 51199 broad.mit.edu 37 14 51224024 51224024 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:51224024G>T uc001wym.2 - 18 3915 c.3724C>A c.(3724-3726)CCT>ACT p.P1242T NIN_uc001wyi.2_Missense_Mutation_p.P1242T|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Missense_Mutation_p.P1248T|NIN_uc001wyo.2_Missense_Mutation_p.P1242T NM_182946 NP_891991 Q8N4C6 NIN_HUMAN ninein isoform 5 1242 Potential. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding skin(3)|ovary(1)|kidney(1)|central_nervous_system(1) 6 all_epithelial(31;0.00244)|Breast(41;0.127) GAAGCCTCAGGGATTCTCTCA 0.428 T PDGFRB MPD 8 211 --- --- --- --- PASS TXNDC16 57544 broad.mit.edu 37 14 52936765 52936765 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:52936765G>T uc001wzs.2 - 16 2057 c.1608C>A c.(1606-1608)ACC>ACA p.T536T TXNDC16_uc010tqu.1_Silent_p.T531T|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 536 cell redox homeostasis extracellular region 0 Breast(41;0.0716) CTGTTTTCATGGTTGGACTAA 0.299 8 172 --- --- --- --- PASS TXNDC16 57544 broad.mit.edu 37 14 52981641 52981641 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:52981641G>T uc001wzs.2 - 8 1011 c.562C>A c.(562-564)CAA>AAA p.Q188K TXNDC16_uc010tqu.1_Missense_Mutation_p.Q183K|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 188 cell redox homeostasis extracellular region 0 Breast(41;0.0716) AAGACAAATTGGTATGTAGTC 0.358 8 184 --- --- --- --- PASS TXNDC16 57544 broad.mit.edu 37 14 52985907 52985907 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:52985907C>A uc001wzs.2 - 7 946 c.497G>T c.(496-498)AGA>ATA p.R166I TXNDC16_uc010tqu.1_Missense_Mutation_p.R161I|TXNDC16_uc010aoe.2_RNA NM_020784 NP_065835 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 isoform 1 166 cell redox homeostasis extracellular region 0 Breast(41;0.0716) TCCAATGGCTCTTACATATGA 0.308 8 160 --- --- --- --- PASS FERMT2 10979 broad.mit.edu 37 14 53417131 53417131 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:53417131G>T uc001xad.2 - 2 211 c.156C>A c.(154-156)CTC>CTA p.L52L FERMT2_uc001xac.2_Silent_p.L52L|FERMT2_uc001xae.2_Silent_p.L52L|FERMT2_uc001xaf.2_Silent_p.L52L NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 52 actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding 0 Breast(41;0.0342) GCTACTCACCGAGTTTCTCCA 0.562 7 92 --- --- --- --- PASS WDHD1 11169 broad.mit.edu 37 14 55458024 55458024 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:55458024G>T uc001xbm.1 - 12 1326 c.1248C>A c.(1246-1248)TCC>TCA p.S416S WDHD1_uc010aom.1_5'UTR|WDHD1_uc001xbn.1_Silent_p.S293S NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 416 cytoplasm|nucleoplasm DNA binding skin(1) 1 ATGGCCTTTGGGATGTTACAA 0.438 6 84 --- --- --- --- PASS C14orf101 54916 broad.mit.edu 37 14 57072380 57072380 + Silent SNP C A A rs141465683 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:57072380C>A uc001xcm.2 + 5 737 c.615C>A c.(613-615)CTC>CTA p.L205L C14orf101_uc001xcj.2_RNA|C14orf101_uc001xck.2_Silent_p.L205L|C14orf101_uc010aot.1_Silent_p.L205L|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_5'UTR NM_017799 NP_060269 Q9NX78 CN101_HUMAN hypothetical protein LOC54916 205 Helical; (Potential). integral to membrane breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(311;0.226) CTTGGATTCTCTTTCAACTTT 0.289 9 223 --- --- --- --- PASS EXOC5 10640 broad.mit.edu 37 14 57686090 57686090 + Silent SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:57686090A>T uc001xct.2 - 14 1727 c.1476T>A c.(1474-1476)ATT>ATA p.I492I EXOC5_uc001xcs.2_Silent_p.I171I|EXOC5_uc010trg.1_Silent_p.I437I|EXOC5_uc010trh.1_Silent_p.I427I NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 492 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 AAAGATGAAAAATAGTATTGG 0.313 11 18 --- --- --- --- PASS EXOC5 10640 broad.mit.edu 37 14 57698409 57698409 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:57698409C>A uc001xct.2 - 11 1214 c.963G>T c.(961-963)CTG>CTT p.L321L EXOC5_uc001xcs.2_5'UTR|EXOC5_uc010trg.1_Silent_p.L266L|EXOC5_uc010trh.1_Silent_p.L256L NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 321 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 TAAACTCCATCAGCTTGCTGG 0.313 7 133 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63175127 63175127 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:63175127C>A uc001xfx.2 - 11 2117 c.2066G>T c.(2065-2067)CGC>CTC p.R689L KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 689 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTGCCGGAGGCGCTCCTCCTC 0.498 5 122 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63483580 63483580 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:63483580C>A uc001xfx.2 - 2 217 c.166G>T c.(166-168)GCT>TCT p.A56S KCNH5_uc001xfy.2_Missense_Mutation_p.A56S|KCNH5_uc001xfz.1_5'UTR|KCNH5_uc001xga.2_5'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 56 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ATGACGTCAGCTCGATGATAT 0.363 9 97 --- --- --- --- PASS SGPP1 81537 broad.mit.edu 37 14 64165361 64165361 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:64165361C>A uc001xgj.2 - 2 794 c.700G>T c.(700-702)GGA>TGA p.G234* NM_030791 NP_110418 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 234 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) AGAATCAGTCCATATATAAGA 0.284 7 107 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64688335 64688335 + Silent SNP G T T rs75079588 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:64688335G>T uc001xgm.2 + 111 20264 c.20034G>T c.(20032-20034)GCG>GCT p.A6678A SYNE2_uc001xgl.2_Silent_p.A6701A|SYNE2_uc010apy.2_Silent_p.A3063A|SYNE2_uc001xgn.2_Silent_p.A1640A|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Silent_p.A648A|SYNE2_uc001xgq.2_Silent_p.A1057A|SYNE2_uc001xgr.2_Silent_p.A461A|SYNE2_uc010tsi.1_Silent_p.A335A|SYNE2_uc001xgs.2_Silent_p.A349A|SYNE2_uc001xgt.2_Silent_p.A223A NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6678 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGTGGTTAGCGAGTGCCAAGA 0.547 7 121 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65246547 65246547 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:65246547C>A uc001xht.2 - 20 4423 c.4369G>T c.(4369-4371)GAG>TAG p.E1457* SPTB_uc001xhr.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhs.2_Nonsense_Mutation_p.E1457*|SPTB_uc001xhu.2_Nonsense_Mutation_p.E1457*|SPTB_uc010aqi.2_Nonsense_Mutation_p.E118* NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1457 Spectrin 12. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AACCGCTTCTCGATGCTCAAG 0.562 5 110 --- --- --- --- PASS MPP5 64398 broad.mit.edu 37 14 67787968 67787968 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:67787968C>A uc001xjc.2 + 13 2198 c.1732C>A c.(1732-1734)CGT>AGT p.R578S MPP5_uc001xjd.2_Missense_Mutation_p.R544S|ATP6V1D_uc001xje.2_Intron NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 578 Guanylate kinase-like. tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) TTTAAGTCTTCGTACACAGGT 0.368 8 148 --- --- --- --- PASS ATP6V1D 51382 broad.mit.edu 37 14 67805349 67805349 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:67805349G>T uc001xjf.2 - 9 909 c.733C>A c.(733-735)CTA>ATA p.L245I ATP6V1D_uc001xje.2_RNA NM_015994 NP_057078 Q9Y5K8 VATD_HUMAN H(+)-transporting two-sector ATPase 245 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1)|lung(1) 2 all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957) TATTCAAATAGAAGATCCTCG 0.408 9 205 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69585939 69585939 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:69585939C>A uc001xkp.2 - 3 586 c.367G>T c.(367-369)GAG>TAG p.E123* DCAF5_uc001xkq.2_Nonsense_Mutation_p.E123*|DCAF5_uc001xkr.3_Nonsense_Mutation_p.E123*|DCAF5_uc001xks.2_Nonsense_Mutation_p.E123* NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 123 WD 2. CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 ATAACTTGCTCATCATTGCCT 0.358 7 88 --- --- --- --- PASS MED6 10001 broad.mit.edu 37 14 71063403 71063403 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:71063403C>A uc001xmf.2 - 3 229 c.199G>T c.(199-201)GAG>TAG p.E67* MED6_uc010tth.1_Nonsense_Mutation_p.E67*|MED6_uc010tti.1_Nonsense_Mutation_p.E67*|MED6_uc001xmg.1_Nonsense_Mutation_p.E67*|MED6_uc010ttj.1_Nonsense_Mutation_p.E67* NM_005466 NP_005457 O75586 MED6_HUMAN mediator of RNA polymerase II transcription, 67 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity 0 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) AGGATGTACTCGATTCCAACC 0.373 5 103 --- --- --- --- PASS DCAF4 26094 broad.mit.edu 37 14 73412709 73412709 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:73412709G>T uc001xng.2 + 7 872 c.652G>T c.(652-654)GAA>TAA p.E218* DCAF4_uc001xnj.2_Nonsense_Mutation_p.E218*|DCAF4_uc010ttr.1_Nonsense_Mutation_p.E196*|DCAF4_uc001xnh.2_Nonsense_Mutation_p.E118*|DCAF4_uc010tts.1_Nonsense_Mutation_p.E157*|DCAF4_uc010ttt.1_Nonsense_Mutation_p.E3*|DCAF4_uc001xni.2_Nonsense_Mutation_p.E157*|DCAF4_uc001xnk.2_Nonsense_Mutation_p.E218* NM_015604 NP_056419 Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 isoform 1 218 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1)|skin(1) 3 GTTCATGCACGAAAACCTCTA 0.517 5 91 --- --- --- --- PASS ZNF410 57862 broad.mit.edu 37 14 74364926 74364926 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:74364926C>A uc001xoz.1 + 5 723 c.541C>A c.(541-543)CGT>AGT p.R181S ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Missense_Mutation_p.R108S|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Missense_Mutation_p.R198S|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Missense_Mutation_p.R181S|ZNF410_uc001xpc.1_Missense_Mutation_p.R128S|ZNF410_uc010tuj.1_5'UTR NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) TGCTGCTACTCGTGCACAACT 0.488 5 41 --- --- --- --- PASS TMED10 10972 broad.mit.edu 37 14 75614415 75614415 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:75614415G>T uc001xrm.1 - 3 430 c.363C>A c.(361-363)CTC>CTA p.L121L TMED10_uc010ash.1_RNA|TMED10_uc010asg.1_RNA|TMED10_uc010tuz.1_5'UTR NM_006827 NP_006818 P49755 TMEDA_HUMAN transmembrane emp24 domain-containing protein 10 121 Lumenal (Potential).|GOLD. protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding 0 BRCA - Breast invasive adenocarcinoma(234;0.0126) CTAGGATCACGAGTTGGTCAG 0.493 9 202 --- --- --- --- PASS TTLL5 23093 broad.mit.edu 37 14 76219245 76219245 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:76219245C>A uc001xrx.2 + 18 1702 c.1497C>A c.(1495-1497)CTC>CTA p.L499L TTLL5_uc010ask.1_Silent_p.L513L|TTLL5_uc001xrz.2_Silent_p.L61L|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 499 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) GGTCCTACCTCGAGCATAAGA 0.368 10 203 --- --- --- --- PASS KIAA1737 85457 broad.mit.edu 37 14 77572095 77572095 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:77572095C>A uc001xtd.2 + 2 223 c.44C>A c.(43-45)TCT>TAT p.S15Y KIAA1737_uc001xtc.1_Translation_Start_Site NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 15 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) AGAAGACTCTCTGCCAAAGTA 0.488 8 116 --- --- --- --- PASS VIPAR 63894 broad.mit.edu 37 14 77909006 77909006 + Splice_Site SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:77909006C>A uc001xtt.1 - 11 970 c.632_splice c.e11-1 p.E211_splice VIPAR_uc001xtu.1_Splice_Site_p.E211_splice|VIPAR_uc010tvj.1_Splice_Site_p.E162_splice|VIPAR_uc001xtv.1_Splice_Site_p.E211_splice NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN hypothetical protein LOC63894 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding central_nervous_system(1) 1 AAGAGGATCTCTGTCAGACAG 0.413 7 100 --- --- --- --- PASS TSHR 7253 broad.mit.edu 37 14 81528491 81528491 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:81528491G>T uc001xvd.1 + 2 327 c.171_splice c.e2-1 p.L57_splice TSHR_uc001xvb.1_Splice_Site_p.L57_splice|TSHR_uc001xvc.2_Splice_Site_p.L57_splice|TSHR_uc010tvs.1_Splice_Site_p.L57_splice NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TATTTTCACAGGAAGCTTATT 0.274 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 8 177 --- --- --- --- PASS SPATA7 55812 broad.mit.edu 37 14 88897553 88897553 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:88897553C>A uc001xwq.2 + 9 1217 c.1066C>A c.(1066-1068)CGT>AGT p.R356S SPATA7_uc001xwr.2_Missense_Mutation_p.R324S|SPATA7_uc001xws.2_Missense_Mutation_p.R292S|SPATA7_uc001xwt.2_Missense_Mutation_p.R250S|SPATA7_uc001xwu.2_Missense_Mutation_p.R12S NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 356 response to stimulus|visual perception ovary(1) 1 CCCTTCAACTCGTAAAATCTA 0.279 8 226 --- --- --- --- PASS ZC3H14 79882 broad.mit.edu 37 14 89037427 89037427 + Splice_Site SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:89037427G>C uc001xww.2 + 4 420 c.195_splice c.e4-1 p.W65_splice ZC3H14_uc010twd.1_Splice_Site_p.W65_splice|ZC3H14_uc010twe.1_Splice_Site_p.W65_splice|ZC3H14_uc001xwx.2_Splice_Site_p.W65_splice|ZC3H14_uc010twf.1_Splice_Site|ZC3H14_uc001xwy.2_Splice_Site_p.W31_splice|ZC3H14_uc010twg.1_5'Flank NM_024824 NP_079100 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 isoform 1 cytoplasm|cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding ovary(2)|skin(1) 3 TTTTTCCTCAGGCTTCATGGT 0.274 15 139 --- --- --- --- PASS ATXN3 4287 broad.mit.edu 37 14 92530748 92530748 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:92530748C>A uc001yac.3 - 11 1071 c.1002G>T c.(1000-1002)ATG>ATT p.M334I ATXN3_uc010aug.2_Missense_Mutation_p.M319I|ATXN3_uc001yad.3_Missense_Mutation_p.M279I|ATXN3_uc010auh.2_Missense_Mutation_p.M268I|ATXN3_uc001yae.3_Missense_Mutation_p.M236I NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 334 UIM 3. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CTTCTTCACTCATAGCATCAC 0.318 10 253 --- --- --- --- PASS ITPK1 3705 broad.mit.edu 37 14 93412760 93412760 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:93412760G>T uc001ybg.2 - 10 1106 c.817C>A c.(817-819)CTG>ATG p.L273M ITPK1_uc001ybe.2_Missense_Mutation_p.L273M|ITPK1_uc001ybf.2_Missense_Mutation_p.L154M|ITPK1_uc001ybh.2_Missense_Mutation_p.L273M NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 273 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) GACACGCCCAGTGCCTGCCGC 0.617 5 54 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95029960 95029960 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:95029960C>A uc001ydk.2 + 2 207 c.141C>A c.(139-141)CCC>CCA p.P47P SERPINA4_uc010avd.2_Silent_p.P84P|SERPINA4_uc001ydl.2_Silent_p.P47P NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 47 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) AGGGCTCCCCCAGCCTCAAGA 0.562 30 42 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95570029 95570029 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:95570029C>A uc001ydw.2 - 22 3886 c.3704G>T c.(3703-3705)TGT>TTT p.C1235F DICER1_uc010avh.1_Missense_Mutation_p.C133F|DICER1_uc001ydv.2_Missense_Mutation_p.C1225F|DICER1_uc001ydx.2_Missense_Mutation_p.C1235F|DICER1_uc001ydy.1_Missense_Mutation_p.C87F NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1235 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGGAGAGTACATTCATCGCT 0.428 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 99 --- --- --- --- PASS DICER1 23405 broad.mit.edu 37 14 95582907 95582907 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:95582907G>T uc001ydw.2 - 11 1817 c.1635C>A c.(1633-1635)TCC>TCA p.S545S DICER1_uc001ydv.2_Silent_p.S535S|DICER1_uc001ydx.2_Silent_p.S545S NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 545 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) ATTGAACATAGGATCGATATT 0.368 Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 8 160 --- --- --- --- PASS BDKRB1 623 broad.mit.edu 37 14 96730991 96730991 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:96730991G>T uc001yfh.2 + 3 1180 c.972G>T c.(970-972)TGG>TGT p.W324C BDKRB1_uc010avn.2_Intron NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 324 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) CCAAGGTCTGGGAACTTTATA 0.443 8 254 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102442115 102442115 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:102442115A>C uc001yks.2 + 2 487 c.323A>C c.(322-324)CAT>CCT p.H108P NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 108 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 ATAGACATTCATTATGGGGTT 0.279 22 135 --- --- --- --- PASS RCOR1 23186 broad.mit.edu 37 14 103177273 103177273 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:103177273G>T uc001ymb.2 + 7 772 c.772G>T c.(772-774)GAG>TAG p.E258* NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 258 Potential. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 GTCTTCCAGCGAGGATGAACT 0.333 6 146 --- --- --- --- PASS RCOR1 23186 broad.mit.edu 37 14 103188542 103188542 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:103188542G>T uc001ymb.2 + 11 1199 c.1199G>T c.(1198-1200)CGA>CTA p.R400L NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 400 SANT 2. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 AAATATGGCCGAGATTTTCAG 0.348 7 116 --- --- --- --- PASS C14orf73 91828 broad.mit.edu 37 14 103574790 103574790 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:103574790G>T uc001ymk.2 + 10 1988 c.1912G>T c.(1912-1914)GAG>TAG p.E638* NM_001077594 NP_001071062 Q17RC7 EX3L4_HUMAN hypothetical protein LOC91828 638 0 Melanoma(154;0.155) Epithelial(46;0.221) GATCCTGGGCGAGACCTACAA 0.607 5 95 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105418747 105418747 + Missense_Mutation SNP C A A rs75352715 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:105418747C>A uc010axc.1 - 7 3161 c.3041G>T c.(3040-3042)GGG>GTG p.G1014V AHNAK2_uc001ypx.2_Missense_Mutation_p.G914V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1014 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GATGGACTTCCCTGGGGCCGA 0.602 11 178 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107034915 107034915 + RNA SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr14:107034915C>A uc010tyt.1 - 154 c.7318G>T uc001ysz.2_Missense_Mutation_p.W55C Parts of antibodies, mostly variable regions. 0 TCTGGCGCACCCAGCCGATCC 0.567 5 9 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25599709 25599709 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:25599709G>T uc001zaq.2 - 8 2255 c.2255C>A c.(2254-2256)CCA>CAA p.P752Q uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.P729Q|UBE3A_uc001zas.2_Missense_Mutation_p.P749Q|UBE3A_uc001zat.2_Missense_Mutation_p.P729Q NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 752 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) AATTTCTTCTGGTCTGAATAA 0.353 8 142 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25925402 25925402 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:25925402C>A uc010ayu.2 - 20 3838 c.3732G>T c.(3730-3732)GTG>GTT p.V1244V NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1244 Helical; (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AAATCAAAGCCACGGTGAAAA 0.468 8 49 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27572070 27572070 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:27572070C>A uc001zbg.1 + 4 551 c.385C>A c.(385-387)CCA>ACA p.P129T GABRG3_uc001zbf.2_Missense_Mutation_p.P129T NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 129 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AATCTGGATCCCAGACACCAT 0.463 7 85 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28386674 28386674 + Silent SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:28386674G>C uc001zbj.2 - 78 12025 c.11919C>G c.(11917-11919)GTC>GTG p.V3973V NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3973 RCC1 13. 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) TGGGAACTTTGACTTTTGCGC 0.542 5 58 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31354782 31354782 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:31354782G>T uc001zfm.2 - 8 1151 c.1023C>A c.(1021-1023)CTC>CTA p.L341L TRPM1_uc010azy.2_Silent_p.L248L|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 341 Extracellular (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) AGACACTTACGAGTTCTTTCT 0.348 5 89 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34147053 34147053 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:34147053C>T uc001zhi.2 + 98 14017 c.13947C>T c.(13945-13947)ATC>ATT p.I4649I RYR3_uc010bar.2_Silent_p.I4644I NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4649 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TATTGGACATCGCAATGGGCT 0.453 19 88 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40246108 40246108 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:40246108C>A uc001zkm.1 + 5 567 c.517C>A c.(517-519)CGT>AGT p.R173S EIF2AK4_uc001zkl.2_Missense_Mutation_p.R173S|EIF2AK4_uc010bbj.1_5'Flank NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 173 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) ATTTCAGCAACGTGAAATCCT 0.264 6 101 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40247944 40247944 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:40247944C>A uc001zkm.1 + 6 768 c.718C>A c.(718-720)CGG>AGG p.R240R EIF2AK4_uc001zkl.2_Silent_p.R240R|EIF2AK4_uc010bbj.1_5'UTR NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 240 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TGGTAAACATCGGGCAAACTC 0.453 5 92 --- --- --- --- PASS NUSAP1 51203 broad.mit.edu 37 15 41668024 41668024 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:41668024A>C uc001zns.3 + 9 1351 c.1121A>C c.(1120-1122)AAA>ACA p.K374T NUSAP1_uc001znq.3_Intron|NUSAP1_uc001znr.3_Missense_Mutation_p.K373T|NUSAP1_uc010bce.2_Intron|NUSAP1_uc001znt.3_Missense_Mutation_p.K359T|NUSAP1_uc001znv.3_Missense_Mutation_p.K372T|NUSAP1_uc001znu.3_Missense_Mutation_p.K373T|NUSAP1_uc010ucw.1_Intron|NUSAP1_uc001znw.3_Missense_Mutation_p.K178T NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 374 Interaction with microtubules (By similarity). cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding 0 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) GAACCACACAAAGGTATGTGG 0.393 8 47 --- --- --- --- PASS RPAP1 26015 broad.mit.edu 37 15 41819710 41819710 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:41819710C>T uc001zod.2 - 12 1646 c.1522G>A c.(1522-1524)GAA>AAA p.E508K NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 508 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGCATTCTTCATCCTCGTCC 0.547 12 37 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42003149 42003149 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:42003149C>A uc001zog.1 + 8 2777 c.2686C>A c.(2686-2688)CGA>AGA p.R896R MGA_uc010ucy.1_Silent_p.R896R|MGA_uc010ucz.1_Silent_p.R896R NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 896 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CCCTGTCTCTCGAAAGGCAAA 0.388 7 183 --- --- --- --- PASS PLA2G4E 123745 broad.mit.edu 37 15 42302381 42302381 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:42302381C>A uc001zow.1 - 1 65 c.65G>T c.(64-66)AGC>ATC p.S22I NM_001080490 NP_001073959 Q3MJ16 PA24E_HUMAN phospholipase A2, group 4E Error:Variant_position_missing_in_Q3MJ16_after_alignment phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity 0 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) CTCCGGTACGCTGGGAGCCTG 0.592 5 28 --- --- --- --- PASS TMEM62 80021 broad.mit.edu 37 15 43441294 43441294 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:43441294C>A uc001zqr.2 + 7 1090 c.811C>A c.(811-813)CGT>AGT p.R271S TMEM62_uc010bda.2_Missense_Mutation_p.R141S NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 271 integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TTTGCACACTCGTCACTTCCA 0.408 5 99 --- --- --- --- PASS CCNDBP1 23582 broad.mit.edu 37 15 43483668 43483668 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:43483668G>T uc001zqv.2 + 8 886 c.655G>T c.(655-657)GAG>TAG p.E219* CCNDBP1_uc001zqu.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdc.2_Nonsense_Mutation_p.E219*|CCNDBP1_uc010bdb.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010udl.1_Nonsense_Mutation_p.E58*|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc010bdd.2_Nonsense_Mutation_p.E91*|CCNDBP1_uc001zqy.2_Nonsense_Mutation_p.E91* NM_012142 NP_036274 O95273 CCDB1_HUMAN cyclin D-type binding-protein 1 isoform 1 219 Interaction with TCF3. cell cycle cytoplasm|nucleus protein binding ovary(1)|kidney(1) 2 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) CCACAATCATGAGGATGATGT 0.468 7 90 --- --- --- --- PASS TP53BP1 7158 broad.mit.edu 37 15 43712600 43712600 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:43712600G>T uc001zrs.2 - 21 4717 c.4569C>A c.(4567-4569)TAC>TAA p.Y1523* TP53BP1_uc010udp.1_Nonsense_Mutation_p.Y1523*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Y1528*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Y1528* NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1523 Interaction with dimethylated histone H4. Y->A: Increases affinity for histone H4 that has been dimethylated at 'Lys-20'. No effect on recruitment to double strand breaks.|Y->S: Decreases affinity for histone H4 that has been dimethylated at 'Lys-20'. double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CATCACATTCGTACCCATCAT 0.478 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 8 202 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44951474 44951474 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:44951474A>G uc001ztx.2 - 3 501 c.470T>C c.(469-471)CTG>CCG p.L157P SPG11_uc010ueh.1_Missense_Mutation_p.L157P|SPG11_uc010uei.1_Missense_Mutation_p.L157P|SPG11_uc001zua.1_Missense_Mutation_p.L157P NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 157 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GTGAAATGACAGGATTCTCAA 0.308 6 59 --- --- --- --- PASS SLC28A2 9153 broad.mit.edu 37 15 45556214 45556214 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:45556214C>A uc001zva.2 + 6 647 c.582C>A c.(580-582)CAC>CAA p.H194Q NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 194 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CCAAACACCACAGCGCAGTGA 0.483 6 95 --- --- --- --- PASS USP8 9101 broad.mit.edu 37 15 50769081 50769081 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:50769081G>T uc001zym.3 + 10 1385 c.885G>T c.(883-885)TTG>TTT p.L295F USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.L295F|USP8_uc001zyn.3_Missense_Mutation_p.L295F|USP8_uc010ufh.1_Missense_Mutation_p.L218F|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 295 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) ATGAGCCTTTGGTTTTAGAGG 0.413 7 89 --- --- --- --- PASS CYP19A1 1588 broad.mit.edu 37 15 51535107 51535107 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:51535107C>A uc001zyz.3 - 3 254 c.3G>T c.(1-3)ATG>ATT p.M1I CYP19A1_uc001zza.3_Missense_Mutation_p.M1I|CYP19A1_uc001zzb.2_Missense_Mutation_p.M1I|CYP19A1_uc001zzd.2_Missense_Mutation_p.M1I|CYP19A1_uc010bey.1_Missense_Mutation_p.M1I|CYP19A1_uc001zze.1_RNA NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 1 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TTTCCAAAACCATCTTGTGTT 0.473 7 128 --- --- --- --- PASS RAB27A 5873 broad.mit.edu 37 15 55516101 55516101 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:55516101G>T uc002aco.2 - 6 686 c.453C>A c.(451-453)CTC>CTA p.L151L RAB27A_uc002acr.2_Silent_p.L151L|RAB27A_uc002acp.2_Silent_p.L151L|RAB27A_uc002acq.2_Silent_p.L151L NM_183234 NP_899057 P51159 RB27A_HUMAN Ras-related protein Rab-27A 151 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity ovary(1) 1 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) ATTTCTCTGCGAGTGCTATGG 0.388 9 204 --- --- --- --- PASS TCF12 6938 broad.mit.edu 37 15 57458628 57458628 + Silent SNP C A A rs147522860 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:57458628C>A uc002aec.2 + 6 638 c.354C>A c.(352-354)TCC>TCA p.S118S TCF12_uc010ugm.1_Silent_p.S170S|TCF12_uc010ugn.1_Silent_p.S114S|TCF12_uc002aea.2_Silent_p.S118S|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Silent_p.S118S|TCF12_uc002aed.2_Silent_p.S118S NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 118 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) GCTCATTTTCCCTGTACAGCA 0.308 T TEC extraskeletal myxoid chondrosarcoma 9 238 --- --- --- --- PASS CGNL1 84952 broad.mit.edu 37 15 57730260 57730260 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:57730260C>A uc002aeg.2 + 2 139 c.63C>A c.(61-63)CTC>CTA p.L21L CGNL1_uc010bfw.2_Silent_p.L21L NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 21 Head. myosin complex|tight junction motor activity skin(6)|ovary(4)|central_nervous_system(1) 11 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ATCTGAGACTCGCAAGTGATG 0.493 6 112 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62241690 62241690 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:62241690C>A uc002agz.2 - 42 4785 c.4711G>T c.(4711-4713)GAG>TAG p.E1571* VPS13C_uc002aha.2_Nonsense_Mutation_p.E1528*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1571*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1528* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1571 protein localization ovary(2) 2 GGTTTCAGCTCGGATTCCTTC 0.368 6 118 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63031711 63031711 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:63031711C>T uc002alb.3 + 28 3852 c.3852C>T c.(3850-3852)CTC>CTT p.L1284L TLN2_uc002alc.3_5'Flank NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1284 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 ATGAATTCCTCGATGCTGGCA 0.547 15 44 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63069108 63069108 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:63069108A>T uc002alb.3 + 40 5513 c.5513A>T c.(5512-5514)AAG>ATG p.K1838M TLN2_uc002alc.3_Missense_Mutation_p.K231M|TLN2_uc002ald.2_Missense_Mutation_p.K231M NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1838 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GCCATGAGCAAGGTGGGCATG 0.572 10 28 --- --- --- --- PASS HERC1 8925 broad.mit.edu 37 15 63958160 63958160 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:63958160G>T uc002amp.2 - 42 8661 c.8513C>A c.(8512-8514)CCA>CAA p.P2838Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2838 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ATCAGCTGATGGTATGTCTCC 0.468 9 154 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65677303 65677303 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:65677303C>A uc002aou.1 - 19 3541 c.3331G>T c.(3331-3333)GAC>TAC p.D1111Y IGDCC4_uc002aot.1_Missense_Mutation_p.D699Y NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 1111 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 TTTATGGCGTCGTACACCAGA 0.632 OREG0023195 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 104 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65687505 65687505 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:65687505G>T uc002aou.1 - 8 1713 c.1503C>A c.(1501-1503)TTC>TTA p.F501L IGDCC4_uc002aot.1_Missense_Mutation_p.F89L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 501 Extracellular (Potential).|Fibronectin type-III 1. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 CCACCACGTAGAACTCATAAT 0.562 5 25 --- --- --- --- PASS RAB11A 8766 broad.mit.edu 37 15 66172017 66172017 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:66172017G>T uc002apk.2 + 4 567 c.439G>T c.(439-441)GGT>TGT p.G147C RAB11A_uc010ujk.1_Nonsense_Mutation_p.E147* NM_004663 NP_004654 P62491 RB11A_HUMAN Ras-related protein Rab-11A 147 cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network GTP binding|GTPase activity|syntaxin binding 0 AGAAAAGAATGGTTTGTCATT 0.348 8 151 --- --- --- --- PASS SPESP1 246777 broad.mit.edu 37 15 69238055 69238055 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:69238055C>A uc002arn.1 + 2 310 c.182C>A c.(181-183)CCA>CAA p.P61Q NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron NM_145658 NP_663633 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 precursor 61 multicellular organismal development acrosomal vesicle 0 TCTAACTCTCCAAAACATGTT 0.373 7 127 --- --- --- --- PASS HCN4 10021 broad.mit.edu 37 15 73617653 73617653 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:73617653C>A uc002avp.2 - 5 2717 c.1723G>T c.(1723-1725)GAG>TAG p.E575* NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 575 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CGCAGGGGCTCGCTTAGCTCG 0.677 4 13 --- --- --- --- PASS SIN3A 25942 broad.mit.edu 37 15 75676637 75676637 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:75676637C>A uc002bai.2 - 17 3422 c.3163G>T c.(3163-3165)GAG>TAG p.E1055* SIN3A_uc002baj.2_Nonsense_Mutation_p.E1055*|SIN3A_uc010uml.1_Nonsense_Mutation_p.E1055* NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1055 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 ATTAGCTGCTCAGCTTTCCGC 0.483 8 170 --- --- --- --- PASS CIB2 10518 broad.mit.edu 37 15 78403567 78403567 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:78403567G>T uc002bdb.1 - 3 459 c.138C>A c.(136-138)TAC>TAA p.Y46* CIB2_uc002bdc.1_Nonsense_Mutation_p.Y3*|CIB2_uc010ums.1_Nonsense_Mutation_p.Y46* NM_006383 NP_006374 O75838 CIB2_HUMAN DNA-dependent protein kinase catalytic 46 calcium ion binding 0 GGCTCTTCCTGTAGTCCATTG 0.592 5 57 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79760690 79760690 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:79760690C>A uc002bew.1 + 4 2790 c.2715C>A c.(2713-2715)CTC>CTA p.L905L KIAA1024_uc010unk.1_3'UTR NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 905 Helical; (Potential). integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 CCGTCATCCTCGTTATTGTCG 0.453 4 35 --- --- --- --- PASS FAH 2184 broad.mit.edu 37 15 80454614 80454614 + Silent SNP C A A rs147946196 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:80454614C>A uc002bfj.2 + 6 473 c.391C>A c.(391-393)CGG>AGG p.R131R FAH_uc002bfk.1_Silent_p.R131R|FAH_uc002bfm.1_Silent_p.R131R|FAH_uc002bfn.1_Silent_p.R61R|FAH_uc010unl.1_Nonsense_Mutation_p.S152*|FAH_uc002bfl.1_Silent_p.R131R NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 131 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 CTATTCCTCTCGGCAGCATGC 0.488 Tyrosinemia_type_1 5 91 --- --- --- --- PASS HOMER2 9455 broad.mit.edu 37 15 83561518 83561518 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:83561518C>A uc002bjg.2 - 2 267 c.81G>T c.(79-81)GCG>GCT p.A27A HOMER2_uc002bjh.2_Silent_p.A27A|HOMER2_uc002bjj.2_Silent_p.A27A|HOMER2_uc002bji.2_Silent_p.A27A NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 27 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 CCTGCTTGCTCGCAGGCATCC 0.542 6 95 --- --- --- --- PASS ADAMTSL3 57188 broad.mit.edu 37 15 84373180 84373180 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:84373180G>T uc002bjz.3 + 3 333 c.109G>T c.(109-111)GAG>TAG p.E37* ADAMTSL3_uc002bjy.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E37*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E37* NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 37 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) TTTCCTTCCCGAGTTTGCACT 0.463 10 214 --- --- --- --- PASS DET1 55070 broad.mit.edu 37 15 89056198 89056198 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:89056198C>T uc002bmr.2 - 5 1789 c.1637G>A c.(1636-1638)CGA>CAA p.R546Q DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.R557Q NM_001144074 NP_001137546 Q7L5Y6 DET1_HUMAN de-etiolated 1 isoform 2 546 nucleus lung(1)|pancreas(1) 2 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GCAGCAGTGTCGCATATGGAA 0.493 8 31 --- --- --- --- PASS POLG 5428 broad.mit.edu 37 15 89870503 89870503 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:89870503C>A uc002bns.3 - 7 1610 c.1328G>T c.(1327-1329)CGT>CTT p.R443L POLG_uc002bnr.3_Missense_Mutation_p.R443L NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 443 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TGCCAGGTAACGCTCCCAGTT 0.587 DNA_polymerases_(catalytic_subunits) 7 27 --- --- --- --- PASS IQGAP1 8826 broad.mit.edu 37 15 90977012 90977012 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:90977012G>T uc002bpl.1 + 5 553 c.452G>T c.(451-453)TGT>TTT p.C151F NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 151 CH. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TGTATCTACTGTATCCATGCA 0.328 8 188 --- --- --- --- PASS CRTC3 64784 broad.mit.edu 37 15 91162997 91162997 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:91162997C>A uc002bpp.2 + 9 830 c.724C>A c.(724-726)CGA>AGA p.R242R CRTC3_uc002bpo.2_Silent_p.R242R NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 242 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AGGACGCCCTCGATCCTGTGA 0.438 T MAML2 salivary gland mucoepidermoid 5 87 --- --- --- --- PASS SV2B 9899 broad.mit.edu 37 15 91795651 91795651 + Silent SNP C A A rs148980578 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:91795651C>A uc002bqv.2 + 3 1076 c.685C>A c.(685-687)CGG>AGG p.R229R SV2B_uc002bqt.2_Silent_p.R229R|SV2B_uc010uqv.1_Silent_p.R78R|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 229 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.R229R(1) ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) ATTCTTGTCTCGGGAGAAGCG 0.483 5 84 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98511308 98511308 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:98511308C>A uc010bom.2 + 4 746 c.587C>A c.(586-588)TCG>TAG p.S196* ARRDC4_uc002bui.3_Nonsense_Mutation_p.S109* NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 196 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) GGTCCAGTCTCGCTGAGTGCC 0.333 5 131 --- --- --- --- PASS TARSL2 123283 broad.mit.edu 37 15 102241364 102241364 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:102241364G>T uc002bxm.2 - 10 1300 c.1245C>A c.(1243-1245)CAC>CAA p.H415Q TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 415 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GACTCAAATCGTGGAAAAAGA 0.318 5 78 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2817786 2817786 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:2817786G>T uc002crk.2 + 11 7806 c.7257G>T c.(7255-7257)ATG>ATT p.M2419I SRRM2_uc002crj.1_Missense_Mutation_p.M2323I|SRRM2_uc002crl.1_Missense_Mutation_p.M2419I|SRRM2_uc010bsu.1_Missense_Mutation_p.M2323I NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 2419 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 AATCTAGGATGACCTCTGAAC 0.597 5 18 --- --- --- --- PASS ZNF174 7727 broad.mit.edu 37 16 3452089 3452089 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:3452089G>T uc002cvc.2 + 1 900 c.85G>T c.(85-87)GAG>TAG p.E29* ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Nonsense_Mutation_p.E29*|ZNF174_uc002cvb.2_Nonsense_Mutation_p.E29* NM_003450 NP_003441 Q15697 ZN174_HUMAN zinc finger protein 174 isoform a 29 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 CAAACTAGAAGAGAAACGGGG 0.488 8 157 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3843455 3843455 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:3843455G>C uc002cvv.2 - 4 1352 c.1148C>G c.(1147-1149)CCG>CGG p.P383R CREBBP_uc002cvw.2_Missense_Mutation_p.P383R NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 383 TAZ-type 1.|Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCGACAATGCGGGAGCGAGCA 0.498 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 24 69 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 9857519 9857519 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:9857519G>T uc002czo.3 - 13 4430 c.3882C>A c.(3880-3882)AAC>AAA p.N1294K GRIN2A_uc010uym.1_Missense_Mutation_p.N1294K|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1294 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTCGACAATGTTATCGTAGG 0.527 5 79 --- --- --- --- PASS EMP2 2013 broad.mit.edu 37 16 10631855 10631855 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:10631855G>A uc002czx.2 - 4 440 c.246C>T c.(244-246)TTC>TTT p.F82F NM_001424 NP_001415 P54851 EMP2_HUMAN epithelial membrane protein 2 82 Helical; (Potential). cell proliferation integral to membrane 0 GCTGGAGCACGAAGATGAAGA 0.557 10 85 --- --- --- --- PASS ZC3H7A 29066 broad.mit.edu 37 16 11859381 11859381 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:11859381G>T uc002dbk.2 - 13 1881 c.1683C>A c.(1681-1683)CTC>CTA p.L561L ZC3H7A_uc002dbj.2_RNA|ZC3H7A_uc002dbl.2_Silent_p.L561L|ZC3H7A_uc002dbm.1_Silent_p.L471L NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 561 nucleus nucleic acid binding|zinc ion binding ovary(2)|pancreas(1)|skin(1) 4 GATGCTCCTGGAGAAGTTTGA 0.443 7 122 --- --- --- --- PASS GDE1 51573 broad.mit.edu 37 16 19522230 19522230 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:19522230C>A uc002dgh.2 - 3 638 c.474G>T c.(472-474)AGG>AGT p.R158S GDE1_uc002dgi.2_Missense_Mutation_p.R48S NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 158 Lumenal (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 CAACAGCTTCCCTTAGGGTAG 0.383 8 184 --- --- --- --- PASS CP110 9738 broad.mit.edu 37 16 19548085 19548085 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:19548085C>A uc002dgl.3 + 4 1341 c.1094C>A c.(1093-1095)CCT>CAT p.P365H CP110_uc002dgk.3_Missense_Mutation_p.P365H O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 365 Interaction with CEP76. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 GCCAAATTACCTAGTCCAGAG 0.368 5 34 --- --- --- --- PASS GPR139 124274 broad.mit.edu 37 16 20043299 20043299 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:20043299C>A uc002dgu.1 - 2 982 c.820G>T c.(820-822)GCC>TCC p.A274S GPR139_uc010vaw.1_Missense_Mutation_p.A181S NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 274 Helical; Name=7; (Potential). integral to membrane|plasma membrane ovary(2) 2 TTCAGAAGGGCTAGCATGTTG 0.552 7 53 --- --- --- --- PASS ACSM1 116285 broad.mit.edu 37 16 20693762 20693762 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:20693762T>A uc002dhm.1 - 3 495 c.427A>T c.(427-429)ATC>TTC p.I143F ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Missense_Mutation_p.I143F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 143 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 TTCAACAGGATGGTCGCAGGA 0.473 8 41 --- --- --- --- PASS ERI2 112479 broad.mit.edu 37 16 20800840 20800840 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:20800840C>A uc002dhs.2 - 10 898 c.855G>T c.(853-855)ATG>ATT p.M285I ACSM3_uc002dhr.2_Intron|ACSM3_uc010vba.1_Intron NM_080663 NP_542394 A8K979 ERI2_HUMAN exoribonuclease 2 isoform 2 Error:Variant_position_missing_in_A8K979_after_alignment intracellular exonuclease activity|nucleic acid binding|zinc ion binding large_intestine(1) 1 cctgtttactcatattgggct 0.045 8 122 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 20975912 20975912 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:20975912C>A uc010vbe.1 - 53 9294 c.9294G>T c.(9292-9294)GCG>GCT p.A3098A DNAH3_uc010vbd.1_Silent_p.A533A NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3098 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCAGTTTATTCGCCTTCTCCA 0.468 6 103 --- --- --- --- PASS IGSF6 10261 broad.mit.edu 37 16 21654427 21654427 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:21654427G>T uc002djg.1 - 5 687 c.634C>A c.(634-636)CAT>AAT p.H212N uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron NM_005849 NP_005840 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 precursor 212 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GBM - Glioblastoma multiforme(48;0.066) TGTCTCTTATGGTATAGTTCT 0.318 7 118 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24192229 24192229 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:24192229C>A uc002dmd.2 + 13 1710 c.1513C>A c.(1513-1515)CCA>ACA p.P505T PRKCB_uc002dme.2_Missense_Mutation_p.P505T NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 505 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) CTGTGGCACTCCAGACTACAT 0.547 5 53 --- --- --- --- PASS EIF3CL 728689 broad.mit.edu 37 16 28734566 28734566 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:28734566C>A uc010byj.2 + 9 947 c.858C>A c.(856-858)TCC>TCA p.S286S uc010vct.1_Intron|EIF3CL_uc010byi.2_Silent_p.S286S|EIF3CL_uc002dqs.3_Silent_p.S286S|EIF3C_uc002dqt.3_Silent_p.S286S|EIF3CL_uc010vcy.1_Silent_p.S276S|EIF3C_uc002dqu.3_Silent_p.S286S|EIF3CL_uc002dqv.3_Silent_p.S32S NM_001099661 NP_001093131 B5ME19 B5ME19_HUMAN eukaryotic translation initiation factor 3, 286 eukaryotic translation initiation factor 3 complex translation initiation factor activity 0 ACAGGAAATCCAAGCGCCTGG 0.567 11 333 --- --- --- --- PASS KIF22 3835 broad.mit.edu 37 16 29810339 29810339 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:29810339G>T uc002dts.3 + 5 617 c.593G>T c.(592-594)CGA>CTA p.R198L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.R130L|KIF22_uc010vdw.1_Missense_Mutation_p.R130L|KIF22_uc010bzf.2_Missense_Mutation_p.R130L NM_007317 NP_015556 Q14807 KIF22_HUMAN kinesin family member 22 198 Kinesin-motor. blood coagulation|DNA repair|microtubule-based movement|mitosis cytosol|kinetochore|microtubule|nucleus ATP binding|DNA binding|microtubule motor activity|protein binding 0 CTGGTAATCCGAGAAGACTGC 0.537 6 103 --- --- --- --- PASS HIRIP3 8479 broad.mit.edu 37 16 30006065 30006065 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:30006065C>A uc002dve.2 - 4 862 c.401G>T c.(400-402)CGA>CTA p.R134L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron NM_003609 NP_003600 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 134 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1) 1 CTTTGAGGCTCGCCTTGGATT 0.597 6 108 --- --- --- --- PASS C16orf93 90835 broad.mit.edu 37 16 30770363 30770363 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:30770363C>G uc002dzm.2 - 8 1118 c.787G>C c.(787-789)GAG>CAG p.E263Q C16orf93_uc002dzn.2_Missense_Mutation_p.E328Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E226Q NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 263 0 GCCACTGTCTCTAGTTCCTCT 0.562 19 119 --- --- --- --- PASS C16orf93 90835 broad.mit.edu 37 16 30771025 30771025 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:30771025C>G uc002dzm.2 - 5 821 c.490G>C c.(490-492)GAG>CAG p.E164Q C16orf93_uc002dzn.2_Missense_Mutation_p.E164Q|C16orf93_uc002dzo.2_Missense_Mutation_p.E127Q|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank NM_001014979 NP_001014979 A1A4V9 CP093_HUMAN hypothetical protein LOC90835 164 0 TAGCACTCCTCCACGTTGCCC 0.502 4 27 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30991034 30991034 + Silent SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:30991034G>C uc002ead.1 + 14 4613 c.3927G>C c.(3925-3927)ACG>ACC p.T1309T NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1309 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 TCAAGCCCACGCCCCCTGCGC 0.706 3 18 --- --- --- --- PASS DNAJA2 10294 broad.mit.edu 37 16 46991042 46991042 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:46991042G>T uc002eeo.2 - 9 1280 c.1138C>A c.(1138-1140)CGA>AGA p.R380R DNAJA2_uc002eep.2_Silent_p.R297R NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 380 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CCTGAGCCTCGAGTGCTATCA 0.463 9 227 --- --- --- --- PASS LONP2 83752 broad.mit.edu 37 16 48290549 48290549 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:48290549C>G uc002efi.1 + 3 586 c.497C>G c.(496-498)CCT>CGT p.P166R LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 166 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 ATGTCTGTCCCTGCAGTTGCT 0.353 9 82 --- --- --- --- PASS AARS 16 broad.mit.edu 37 16 70302256 70302256 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:70302256C>A uc002eyn.1 - 8 1099 c.989G>T c.(988-990)CGA>CTA p.R330L AARS_uc010vlu.1_Missense_Mutation_p.R160L NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 330 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TCGGACAGCTCGGCGGAGAAT 0.507 4 40 --- --- --- --- PASS ZFP1 162239 broad.mit.edu 37 16 75203869 75203869 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr16:75203869G>C uc002fdo.2 + 4 1025 c.861G>C c.(859-861)CAG>CAC p.Q287H ZFP1_uc002fdp.2_Missense_Mutation_p.Q232H|ZFP1_uc010cgt.2_Missense_Mutation_p.Q254H|ZFP1_uc010cgs.2_Missense_Mutation_p.Q232H|ZFP1_uc002fdq.2_Missense_Mutation_p.Q287H NM_153688 NP_710155 Q6P2D0 ZFP1_HUMAN zinc finger protein 1 homolog 287 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CCACACACCAGAGAATTCATA 0.433 5 30 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1582704 1582704 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:1582704C>G uc002fte.2 - 10 1404 c.1290G>C c.(1288-1290)TGG>TGC p.W430C NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 430 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCTCCCGATACCTGGAAAAAT 0.502 18 56 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1584337 1584337 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:1584337C>A uc002fte.2 - 7 992 c.878G>T c.(877-879)TGG>TTG p.W293L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 293 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GAATTCATTCCAGTCTTCATC 0.279 8 114 --- --- --- --- PASS SMG6 23293 broad.mit.edu 37 17 2203024 2203024 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:2203024G>T uc002fub.1 - 2 1078 c.1023C>A c.(1021-1023)AAC>AAA p.N341K SMG6_uc002fud.1_Missense_Mutation_p.N310K NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 341 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 CTTTAGCACTGTTTTTCTGCT 0.473 6 85 --- --- --- --- PASS SPATA22 84690 broad.mit.edu 37 17 3352120 3352120 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:3352120G>A uc002fvm.2 - 6 890 c.653C>T c.(652-654)CCA>CTA p.P218L SPATA22_uc010vrg.1_Missense_Mutation_p.P202L|SPATA22_uc010vrf.1_Missense_Mutation_p.P218L|SPATA22_uc002fvn.2_Missense_Mutation_p.P218L|SPATA22_uc002fvo.2_Missense_Mutation_p.P218L|SPATA22_uc002fvp.2_Missense_Mutation_p.P218L|SPATA22_uc010ckf.2_Missense_Mutation_p.P175L NM_032598 NP_115987 Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 218 0 GTTGTCTTCTGGAATATCATC 0.308 30 66 --- --- --- --- PASS C17orf85 55421 broad.mit.edu 37 17 3716427 3716427 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:3716427G>T uc010ckl.1 - 13 1797 c.1774C>A c.(1774-1776)CGC>AGC p.R592S C17orf85_uc002fwr.2_Missense_Mutation_p.R302S|C17orf85_uc002fwq.2_Missense_Mutation_p.R312S NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 592 nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) TTCTTTTGGCGAGACTGCTCT 0.537 6 90 --- --- --- --- PASS ZZEF1 23140 broad.mit.edu 37 17 3916904 3916904 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:3916904G>T uc002fxe.2 - 52 8482 c.8418C>A c.(8416-8418)TTC>TTA p.F2806L ZZEF1_uc002fxg.1_Missense_Mutation_p.F127L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2806 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCAAAATCTCGAATCCTGGCC 0.403 7 188 --- --- --- --- PASS MINK1 50488 broad.mit.edu 37 17 4798448 4798448 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:4798448C>A uc010vsl.1 + 25 3192 c.2996C>A c.(2995-2997)CCC>CAC p.P999H MINK1_uc010vsk.1_Missense_Mutation_p.P970H|MINK1_uc010vsm.1_Missense_Mutation_p.P979H|MINK1_uc010vsn.1_Missense_Mutation_p.P962H|MINK1_uc010vso.1_Missense_Mutation_p.P907H|MINK1_uc010vsp.1_Missense_Mutation_p.P460H NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 999 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 AACGTGAATCCCACCAACACC 0.602 9 258 --- --- --- --- PASS ENO3 2027 broad.mit.edu 37 17 4858862 4858862 + Silent SNP C A A rs35119507 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:4858862C>A uc002gab.3 + 8 922 c.828C>A c.(826-828)CTC>CTA p.L276L ENO3_uc010vsr.1_Silent_p.L183L|ENO3_uc002gac.3_Silent_p.L276L|ENO3_uc010vss.1_Silent_p.L233L|ENO3_uc010vst.1_Silent_p.L112L NM_053013 NP_443739 P13929 ENOB_HUMAN enolase 3 276 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity ovary(1) 1 GGGAGAAGCTCGGAGAGCTGT 0.522 6 140 --- --- --- --- PASS ZNF594 84622 broad.mit.edu 37 17 5085768 5085768 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:5085768G>T uc010cla.1 - 2 1940 c.1784C>A c.(1783-1785)CCA>CAA p.P595Q NM_032530 NP_115919 Q96JF6 ZN594_HUMAN zinc finger protein 594 595 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 GCATTCATATGGTTTCTCTCT 0.423 8 174 --- --- --- --- PASS SLC2A4 6517 broad.mit.edu 37 17 7187914 7187914 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:7187914G>A uc002gfp.2 + 7 1038 c.838G>A c.(838-840)GGC>AGC p.G280S SLC2A4_uc002gfo.2_Missense_Mutation_p.G280S|SLC2A4_uc010cmd.2_RNA NM_001042 NP_001033 P14672 GTR4_HUMAN glucose transporter 4 280 Cytoplasmic (Potential). carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding 0 CCAGCTCCTGGGCAGCCGTAC 0.632 12 18 --- --- --- --- PASS NEURL4 84461 broad.mit.edu 37 17 7221432 7221432 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:7221432C>A uc002gga.1 - 25 4019 c.4012G>T c.(4012-4014)GAG>TAG p.E1338* GPS2_uc002gfv.1_5'Flank|GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_5'UTR|NEURL4_uc002ggb.1_Nonsense_Mutation_p.E1336* NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 1338 protein binding upper_aerodigestive_tract(1)|ovary(1) 2 GCATGGTACTCGCAGCTCTTT 0.592 5 74 --- --- --- --- PASS MPDU1 9526 broad.mit.edu 37 17 7487219 7487219 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:7487219C>A uc002ghw.2 + 1 255 c.39C>A c.(37-39)CTC>CTA p.L13L MPDU1_uc010vub.1_5'UTR|MPDU1_uc002ghx.2_Silent_p.L13L|MPDU1_uc010vuc.1_Silent_p.L13L NM_004870 NP_004861 O75352 MPU1_HUMAN mannose-P-dolichol utilization defect 1 13 dolichol-linked oligosaccharide biosynthetic process|protein folding endoplasmic reticulum membrane|integral to membrane|mitochondrion protein binding central_nervous_system(1) 1 AACGGCTGCTCGTGCCGATTC 0.542 7 147 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:7577090C>G uc002gim.2 - 8 1042 c.848G>C c.(847-849)CGC>CCC p.R283P TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R283P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R151P|TP53_uc010cng.1_Missense_Mutation_p.R151P|TP53_uc002gii.1_Missense_Mutation_p.R151P|TP53_uc010cnh.1_Missense_Mutation_p.R283P|TP53_uc010cni.1_Missense_Mutation_p.R283P|TP53_uc002gij.2_Missense_Mutation_p.R283P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 283 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R283P(23)|p.R283C(18)|p.R283H(12)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R283G(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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) TTCCTCTGTGCGCCGGTCTCT 0.562 111 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) 10 10 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10399845 10399845 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:10399845C>A uc002gmo.2 - 34 4772 c.4678G>T c.(4678-4680)GGA>TGA p.G1560* uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1560 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGGATCTTTCCCTCTTCATGT 0.383 52 77 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10429093 10429093 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:10429093C>G uc010coi.2 - 31 4416 c.4288G>C c.(4288-4290)GAG>CAG p.E1430Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1430Q|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1430 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCCTCGACCTCATTCTGCAGC 0.537 6 71 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11835352 11835352 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:11835352C>A uc002gne.2 + 64 12195 c.12127C>A c.(12127-12129)CGG>AGG p.R4043R DNAH9_uc010coo.2_Silent_p.R3261R|DNAH9_uc002gnf.2_Silent_p.R355R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4043 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GATGTGTTCTCGGGAGACGGA 0.493 7 223 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656052 12656052 + Missense_Mutation SNP G T T rs28730823 byFrequency TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:12656052G>T uc002gnn.2 + 10 1746 c.1447G>T c.(1447-1449)GGC>TGC p.G483C MYOCD_uc002gno.2_Missense_Mutation_p.G483C|MYOCD_uc002gnp.1_Missense_Mutation_p.G387C|MYOCD_uc002gnq.2_Missense_Mutation_p.G202C NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 483 Ser-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCCTCCTTCGGCCTGCACCC 0.642 10 12 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16029511 16029511 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:16029511G>T uc002gpo.2 - 15 1759 c.1519C>A c.(1519-1521)CGA>AGA p.R507R NCOR1_uc002gpn.2_Silent_p.R507R|NCOR1_uc002gpp.1_Silent_p.R398R|NCOR1_uc002gpr.2_Silent_p.R398R|NCOR1_uc002gps.1_Silent_p.R516R|NCOR1_uc010coz.1_Silent_p.R323R|NCOR1_uc010cpb.1_Silent_p.R517R|NCOR1_uc010cpa.1_Silent_p.R508R NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 507 Potential. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) tGCGAGGGTCGAGCAATTTGC 0.179 5 105 --- --- --- --- PASS TMEM97 27346 broad.mit.edu 37 17 26652619 26652619 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:26652619G>T uc002hat.2 + 2 362 c.217G>T c.(217-219)GAG>TAG p.E73* NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 73 Helical; (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TCTGTTTTGCGAGCTTGTGTT 0.448 6 96 --- --- --- --- PASS SPAG5 10615 broad.mit.edu 37 17 26906801 26906801 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:26906801C>A uc002hbq.2 - 17 2944 c.2852G>T c.(2851-2853)CGA>CTA p.R951L ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 951 cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) TGATGCTACTCGGGTGAAAGC 0.502 7 101 --- --- --- --- PASS PHF12 57649 broad.mit.edu 37 17 27233933 27233933 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:27233933G>T uc002hdg.1 - 14 3151 c.2621C>A c.(2620-2622)TCG>TAG p.S874* PHF12_uc010wbb.1_Nonsense_Mutation_p.S856* NM_001033561 NP_001028733 Q96QT6 PHF12_HUMAN PHD finger protein 12 isoform 1 874 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding ovary(1) 1 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GGTCTTCTCCGAGAAGTCACA 0.507 5 87 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27829707 27829707 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:27829707G>T uc002hdz.1 + 13 1498 c.1304G>T c.(1303-1305)CGA>CTA p.R435L TAOK1_uc010wbe.1_Missense_Mutation_p.R435L|TAOK1_uc010wbf.1_Missense_Mutation_p.R435L|TAOK1_uc002heb.1_Missense_Mutation_p.R261L NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 435 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) TATCGTAATCGAGAACACTTT 0.398 6 71 --- --- --- --- PASS CPD 1362 broad.mit.edu 37 17 28749923 28749923 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:28749923G>T uc002hfb.1 + 5 1554 c.1539G>T c.(1537-1539)TTG>TTT p.L513F CPD_uc010wbo.1_Missense_Mutation_p.L266F|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 513 Extracellular (Potential).|Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 AAATCTTCTTGAGAAGGTTTG 0.393 7 102 --- --- --- --- PASS PSMD11 5717 broad.mit.edu 37 17 30791091 30791091 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:30791091G>T uc010cta.1 + 4 383 c.343G>T c.(343-345)GAA>TAA p.E115* PSMD11_uc010wbz.1_Nonsense_Mutation_p.E115*|PSMD11_uc002hhm.2_Nonsense_Mutation_p.E115* NM_002815 NP_002806 O00231 PSD11_HUMAN proteasome 26S non-ATPase subunit 11 115 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding ovary(1) 1 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.109) AGAGTGCATCGAATGGGCCAA 0.438 6 88 --- --- --- --- PASS LIG3 3980 broad.mit.edu 37 17 33319587 33319587 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:33319587C>A uc002hik.1 + 8 1439 c.1331C>A c.(1330-1332)TCG>TAG p.S444* LIG3_uc002hij.2_Nonsense_Mutation_p.S444*|LIG3_uc010cth.1_Nonsense_Mutation_p.S453* NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 444 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) TTCAAAGCCTCGCGCAACCTG 0.587 Other_BER_factors 5 71 --- --- --- --- PASS PIGW 284098 broad.mit.edu 37 17 34893028 34893028 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:34893028G>T uc002hmy.1 + 2 121 c.78G>T c.(76-78)TTG>TTT p.L26F MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.L26F NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 26 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCAGGGATTGTGCTTTCCTG 0.433 6 78 --- --- --- --- PASS GGNBP2 79893 broad.mit.edu 37 17 34934591 34934591 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:34934591C>A uc002hnb.2 + 7 1069 c.820C>A c.(820-822)CGT>AGT p.R274S GGNBP2_uc002hna.2_Missense_Mutation_p.R274S|GGNBP2_uc002hnc.1_Missense_Mutation_p.R103S NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 274 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) TCTTTTGGGTCGTGCTGAGCC 0.438 5 116 --- --- --- --- PASS MRPL45 84311 broad.mit.edu 37 17 36462506 36462506 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:36462506G>A uc002hpy.2 + 4 521 c.369G>A c.(367-369)CGG>CGA p.R123R NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 precursor 123 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome 0 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACAGAATCCGGAGGATAAAAG 0.358 12 81 --- --- --- --- PASS GPR179 440435 broad.mit.edu 37 17 36487046 36487046 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:36487046C>A uc002hpz.2 - 11 2427 c.2406G>T c.(2404-2406)GAG>GAT p.E802D NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 802 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACTCCCGGCTCTCTGTTCGAG 0.667 4 12 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37571341 37571341 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:37571341G>T uc002hrv.3 - 16 1649 c.1437C>A c.(1435-1437)CTC>CTA p.L479L MED1_uc010wee.1_Silent_p.L307L|MED1_uc002hru.2_Silent_p.L479L NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 479 Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GCCCTTTGTAGAGTTTACAGC 0.408 HNSCC(31;0.082) 11 308 --- --- --- --- PASS MED24 9862 broad.mit.edu 37 17 38191412 38191412 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:38191412T>C uc002htt.2 - 6 830 c.517A>G c.(517-519)AAG>GAG p.K173E MED24_uc010wes.1_Missense_Mutation_p.K14E|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.K198E|MED24_uc002htu.2_Missense_Mutation_p.K160E|MED24_uc010cwn.2_Missense_Mutation_p.K160E|MED24_uc010weu.1_Missense_Mutation_p.K83E|MED24_uc010wev.1_Missense_Mutation_p.K123E|MED24_uc010wew.1_Missense_Mutation_p.K102E|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.K123E|MED24_uc010wfb.1_Missense_Mutation_p.K185E|MED24_uc010wfc.1_Missense_Mutation_p.K110E NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 173 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) GCCCGGTTCTTGGTGCTGCTG 0.642 OREG0024387 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 61 --- --- --- --- PASS CCR7 1236 broad.mit.edu 37 17 38711930 38711930 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:38711930G>T uc002huw.2 - 3 264 c.201C>A c.(199-201)ATC>ATA p.I67I NM_001838 NP_001829 P32248 CCR7_HUMAN chemokine (C-C motif) receptor 7 precursor 67 Helical; Name=1; (Potential). cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation integral to membrane|intracellular C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding breast(1) 1 Breast(137;0.000496) CGAAACAAATGATGGAGTACA 0.493 8 52 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40843900 40843900 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:40843900G>T uc002iay.2 + 16 2637 c.2421G>T c.(2419-2421)CTG>CTT p.L807L CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 807 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ACCACAGCCTGGATGTCTCCT 0.577 10 130 --- --- --- --- PASS CNTD1 124817 broad.mit.edu 37 17 40955684 40955684 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:40955684G>T uc002ibm.3 + 2 448 c.216G>T c.(214-216)GTG>GTT p.V72V CNTD1_uc010wha.1_5'UTR NM_173478 NP_775749 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 72 Cyclin N-terminal. central_nervous_system(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGAAATCTGTGAGCTACCAGG 0.423 8 179 --- --- --- --- PASS BECN1 8678 broad.mit.edu 37 17 40963737 40963737 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:40963737C>A uc002ibo.3 - 11 1255 c.1120G>T c.(1120-1122)GAC>TAC p.D374Y BECN1_uc010whb.1_Missense_Mutation_p.D287Y|BECN1_uc010whc.1_Intron|BECN1_uc002ibn.2_Missense_Mutation_p.D374Y NM_003766 NP_003757 Q14457 BECN1_HUMAN beclin 1 374 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding ovary(1) 1 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) TGCACACAGTCCAGGAAAGCC 0.488 15 85 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42478509 42478509 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:42478509G>T uc002igw.1 - 8 1000 c.936C>A c.(934-936)CTC>CTA p.L312L GPATCH8_uc002igv.1_Silent_p.L234L|GPATCH8_uc010wiz.1_Silent_p.L234L NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 312 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTATTGATTCGAGTTTGACAG 0.463 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 244 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 50008415 50008415 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:50008415C>A uc002itw.3 - 3 1200 c.214G>T c.(214-216)GAG>TAG p.E72* CA10_uc002itv.3_Nonsense_Mutation_p.E78*|CA10_uc002itx.3_Nonsense_Mutation_p.E72*|CA10_uc002ity.3_Nonsense_Mutation_p.E72*|CA10_uc002itz.2_Nonsense_Mutation_p.E72* NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 72 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGACTGGTCTCTATGTTGACT 0.468 9 160 --- --- --- --- PASS DGKE 8526 broad.mit.edu 37 17 54912188 54912188 + Nonsense_Mutation SNP C A A rs148605410 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:54912188C>A uc002iur.2 + 2 212 c.32C>A c.(31-33)TCG>TAG p.S11* DGKE_uc002ius.1_Nonsense_Mutation_p.S11*|C17orf67_uc002iuq.2_5'Flank NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 11 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) GCGCCGGGCTCGCCCTCCGAG 0.647 6 139 --- --- --- --- PASS PPM1E 22843 broad.mit.edu 37 17 57050227 57050227 + Missense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:57050227G>A uc002iwx.2 + 6 1278 c.1151G>A c.(1150-1152)TGC>TAC p.C384Y PPM1E_uc010ddd.2_Missense_Mutation_p.C147Y NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 393 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) CTTGGAGGTTGCGTAGTCTGG 0.403 23 97 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57728613 57728613 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:57728613C>A uc002ixq.1 + 5 1174 c.731C>A c.(730-732)CCA>CAA p.P244Q CLTC_uc002ixp.2_Missense_Mutation_p.P244Q|CLTC_uc002ixr.1_Missense_Mutation_p.P248Q NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 244 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CAGCCCTTTCCAAAGAAGGCA 0.259 T ALK|TFE3 ALCL|renal 8 203 --- --- --- --- PASS CLTC 1213 broad.mit.edu 37 17 57762524 57762524 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:57762524C>A uc002ixq.1 + 29 4985 c.4542C>A c.(4540-4542)CTC>CTA p.L1514L CLTC_uc002ixp.2_Silent_p.L1514L|CLTC_uc002ixr.1_Silent_p.L1518L NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 1514 Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity). axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTGCTTATCTCTTCAAAGGCA 0.423 T ALK|TFE3 ALCL|renal 9 116 --- --- --- --- PASS DDX42 11325 broad.mit.edu 37 17 61889361 61889361 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:61889361C>G uc002jbu.2 + 15 1725 c.1468C>G c.(1468-1470)CGG>GGG p.R490G DDX42_uc002jbv.2_Missense_Mutation_p.R490G|DDX42_uc002jbw.1_Missense_Mutation_p.R226G|DDX42_uc002jbx.2_Missense_Mutation_p.R226G|DDX42_uc002jby.2_Missense_Mutation_p.R36G NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 490 Helicase C-terminal. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 CTGGCTTACCCGGCGTCTGGT 0.433 5 199 --- --- --- --- PASS ABCA10 10349 broad.mit.edu 37 17 67150376 67150376 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr17:67150376C>A uc010dfa.1 - 32 4665 c.3786G>T c.(3784-3786)GTG>GTT p.V1262V ABCA10_uc010wqs.1_Silent_p.V254V|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1262 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TGTCACATACCACTCCTGCAG 0.323 9 74 --- --- --- --- PASS USP14 9097 broad.mit.edu 37 18 210396 210396 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:210396C>A uc002kkf.1 + 15 1452 c.1236C>A c.(1234-1236)TCC>TCA p.S412S USP14_uc002kkg.1_Silent_p.S377S|USP14_uc010wyr.1_Silent_p.S401S NM_005151 NP_005142 P54578 UBP14_HUMAN ubiquitin specific protease 14 isoform a 412 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2) 2 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) ATATTGGCTCCAATAATTGTG 0.348 7 110 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 333036 333036 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:333036G>C uc002kkm.2 - 7 2139 c.1924C>G c.(1924-1926)CTT>GTT p.L642V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 642 Extracellular (Potential).|C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) ATGAAAACAAGATGTGAAGAC 0.378 21 77 --- --- --- --- PASS CLUL1 27098 broad.mit.edu 37 18 627165 627165 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:627165C>A uc002kkp.2 + 5 637 c.492C>A c.(490-492)CTC>CTA p.L164L CLUL1_uc010wys.1_Silent_p.L216L|CLUL1_uc002kkq.2_Silent_p.L164L NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 164 cell death extracellular region ovary(2) 2 AAAAAGATCTCCCCATCAGTG 0.393 7 99 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3086126 3086126 + Silent SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:3086126A>G uc002klp.2 - 30 4495 c.4161T>C c.(4159-4161)ACT>ACC p.T1387T MYOM1_uc002klq.2_Silent_p.T1291T NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1387 Ig-like C2-type 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 ACACAATATGAGTCTCCTTCT 0.358 13 89 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3142053 3142053 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:3142053C>A uc002klp.2 - 14 2243 c.1909G>T c.(1909-1911)GTG>TTG p.V637L MYOM1_uc002klq.2_Missense_Mutation_p.V637L NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 637 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGGCCAGGCACAATACCCTCT 0.557 5 47 --- --- --- --- PASS L3MBTL4 91133 broad.mit.edu 37 18 6237993 6237993 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:6237993C>A uc002kmz.3 - 10 914 c.754G>T c.(754-756)GAG>TAG p.E252* L3MBTL4_uc010dkt.2_Nonsense_Mutation_p.E252*|L3MBTL4_uc002kmy.3_Nonsense_Mutation_p.E90* NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 252 MBT 2. chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) CTTCCATTCTCCTGACACCAA 0.443 7 102 --- --- --- --- PASS PTPRM 5797 broad.mit.edu 37 18 8370999 8370999 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:8370999G>C uc002knn.3 + 22 3630 c.3127G>C c.(3127-3129)GAA>CAA p.E1043Q PTPRM_uc010dkv.2_Missense_Mutation_p.E1056Q|PTPRM_uc010wzl.1_Missense_Mutation_p.E830Q NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1043 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) ATTTGCTGTTGAAAAGGTAAG 0.353 9 66 --- --- --- --- PASS NDUFV2 4729 broad.mit.edu 37 18 9126889 9126889 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:9126889C>A uc002knu.2 + 7 707 c.640C>A c.(640-642)CCA>ACA p.P214T NM_021074 NP_066552 P19404 NDUV2_HUMAN NADH dehydrogenase ubiquinone flavoprotein 2 214 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) TGGCAAAATCCCAAAACCAGG 0.299 10 335 --- --- --- --- PASS VAPA 9218 broad.mit.edu 37 18 9954179 9954179 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:9954179G>T uc002kok.2 + 6 1020 c.721G>T c.(721-723)GGA>TGA p.G241* VAPA_uc002koj.2_Nonsense_Mutation_p.G286* NM_194434 NP_919415 Q9P0L0 VAPA_HUMAN vesicle-associated membrane protein-associated 241 Helical; Anchor for type IV membrane protein; (Potential). cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity 0 CATTTTCATTGGATTCTTTCT 0.378 11 189 --- --- --- --- PASS RNMT 8731 broad.mit.edu 37 18 13731773 13731773 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:13731773C>A uc002ksk.1 + 2 324 c.257C>A c.(256-258)CCT>CAT p.P86H RNMT_uc002ksl.1_Missense_Mutation_p.P86H|RNMT_uc002ksm.1_Missense_Mutation_p.P86H|RNMT_uc010dlk.2_Missense_Mutation_p.P86H|RNMT_uc010xae.1_Intron NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 86 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 AAACTTGATCCTGAAATTGTC 0.363 7 100 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21328024 21328024 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:21328024C>A uc002kuq.2 + 3 651 c.565C>A c.(565-567)CAT>AAT p.H189N LAMA3_uc010dlv.1_Missense_Mutation_p.H189N|LAMA3_uc002kur.2_Missense_Mutation_p.H189N NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 189 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATATTTTGCTCGTAAGTAATC 0.323 5 81 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21508596 21508596 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:21508596G>T uc002kuq.2 + 64 8389 c.8303G>T c.(8302-8304)CGA>CTA p.R2768L LAMA3_uc002kur.2_Missense_Mutation_p.R2712L|LAMA3_uc002kus.3_Missense_Mutation_p.R1159L|LAMA3_uc002kut.3_Missense_Mutation_p.R1103L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2768 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCTTGTGCGATCTGCCTCA 0.418 5 103 --- --- --- --- PASS IMPACT 55364 broad.mit.edu 37 18 22007948 22007948 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:22007948C>A uc002kvh.3 + 2 214 c.102C>A c.(100-102)GCC>GCA p.A34A IMPACT_uc002kvg.3_Silent_p.A16A NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 34 RWD. 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) ATGACTGTGCCAAAATATTTT 0.388 8 156 --- --- --- --- PASS TAF4B 6875 broad.mit.edu 37 18 23873404 23873404 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:23873404C>A uc002kvu.3 + 9 2230 c.1741C>A c.(1741-1743)CAA>AAA p.Q581K TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.Q586K NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 581 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1)|skin(1) 3 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) CATTCTAAAGCAAATTACTCT 0.308 10 79 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28710517 28710517 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:28710517G>T uc002kwn.2 - 16 2907 c.2645C>A c.(2644-2646)CCC>CAC p.P882H DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 882 Cytoplasmic (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCTAAATTTGGGTTCCAGGTG 0.418 7 135 --- --- --- --- PASS INO80C 125476 broad.mit.edu 37 18 33048590 33048590 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:33048590C>A uc002kyy.3 - 5 681 c.564G>T c.(562-564)ACG>ACT p.T188T INO80C_uc002kyw.1_Intron|INO80C_uc002kyx.3_Silent_p.T133T|INO80C_uc010dmt.2_Silent_p.T224T NM_194281 NP_919257 Q6PI98 IN80C_HUMAN Ies6-similar protein isoform 2 188 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex 0 GAACGATGCTCGTGGCCTTCC 0.522 6 137 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43207095 43207095 + Silent SNP C A A rs147874580 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:43207095C>A uc010dnj.2 + 5 825 c.504C>A c.(502-504)CTC>CTA p.L168L SLC14A2_uc002lbb.2_Silent_p.L168L|SLC14A2_uc002lbe.2_Silent_p.L168L NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 168 Helical; (Potential). apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TAACAGCTCTCGCCTTGGGCC 0.517 5 49 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43459008 43459008 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:43459008C>A uc002lbm.2 - 33 5939 c.5839G>T c.(5839-5841)GCC>TCC p.A1947S KIAA1632_uc010xcq.1_Missense_Mutation_p.A501S|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.A822S NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1947 autophagy 0 GGGTCTTGGGCCAAACAGGTC 0.418 5 71 --- --- --- --- PASS C18orf25 147339 broad.mit.edu 37 18 43796094 43796094 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:43796094G>T uc002lbw.2 + 2 627 c.248G>T c.(247-249)CGA>CTA p.R83L C18orf25_uc002lbx.2_Missense_Mutation_p.R83L NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 83 central_nervous_system(2) 2 ACAACTGGCCGAGTTTATGAG 0.468 5 106 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50961579 50961579 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:50961579G>T uc002lfe.1 + 22 3816 c.3229G>T c.(3229-3231)GAG>TAG p.E1077* DCC_uc010dpf.1_Nonsense_Mutation_p.E712* NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1077 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACCCTAAATGGTAAGTATAT 0.353 9 231 --- --- --- --- PASS C18orf26 284254 broad.mit.edu 37 18 52265134 52265134 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:52265134C>A uc002lfq.1 + 3 437 c.391C>A c.(391-393)CTT>ATT p.L131I C18orf26_uc002lfp.1_Missense_Mutation_p.L79I NM_173629 NP_775900 Q8N1N2 CR026_HUMAN hypothetical protein LOC284254 131 Helical; (Potential). integral to membrane 0 Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178) AATTGGAGTACTTATAATATG 0.418 6 84 --- --- --- --- PASS ATP8B1 5205 broad.mit.edu 37 18 55362765 55362765 + Splice_Site SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:55362765C>A uc002lgw.2 - 8 699 c.699_splice c.e8-1 p.G233_splice uc002lgv.1_Intron NM_005603 NP_005594 O43520 AT8B1_HUMAN ATPase, class I, type 8B, member 1 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(5)|ovary(2)|central_nervous_system(2)|lung(1) 10 Colorectal(73;0.229) ATTGGTTTCTCTAAAGGAATG 0.338 Byler_disease 6 65 --- --- --- --- PASS MC4R 4160 broad.mit.edu 37 18 58039353 58039353 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:58039353G>T uc002lie.1 - 1 649 c.230C>A c.(229-231)TCA>TAA p.S77* NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 77 Cytoplasmic (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) GTACATGGGTGAATGCAGATT 0.428 6 44 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59217418 59217418 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:59217418G>C uc010dps.1 + 10 1868 c.1856G>C c.(1855-1857)CGG>CCG p.R619P CDH20_uc002lif.2_Missense_Mutation_p.R613P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 619 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) AGTTTGAGCCGGGGCGCCCTC 0.587 4 55 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65179108 65179108 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:65179108C>A uc002lke.1 - 2 3992 c.2768G>T c.(2767-2769)AGT>ATT p.S923I NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 913 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AAAATGCCCACTGCGGATATC 0.428 5 42 --- --- --- --- PASS FBXO15 201456 broad.mit.edu 37 18 71740764 71740764 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:71740764G>T uc002lle.2 - 10 1573 c.1237C>A c.(1237-1239)CTT>ATT p.L413I FBXO15_uc002lld.2_RNA|FBXO15_uc002llf.2_Missense_Mutation_p.L489I NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 413 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TTGACAATAAGGTATTCTTCG 0.433 7 118 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74622034 74622034 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr18:74622034G>T uc002lmi.2 + 15 2754 c.2556G>T c.(2554-2556)GTG>GTT p.V852V ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 852 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ATGGGTTTGTGGCTCCACAGG 0.512 10 31 --- --- --- --- PASS PALM 5064 broad.mit.edu 37 19 734187 734187 + Silent SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:734187G>A uc002lpm.1 + 6 629 c.435G>A c.(433-435)ACG>ACA p.T145T PALM_uc010xft.1_Silent_p.T145T|PALM_uc002lpn.1_Silent_p.T145T|PALM_uc010xfu.1_Silent_p.T10T NM_002579 NP_002570 O75781 PALM_HUMAN paralemmin isoform 1 145 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane 0 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) CGGTGGGCACGCCCAAAGGTA 0.632 11 36 --- --- --- --- PASS DOT1L 84444 broad.mit.edu 37 19 2185887 2185887 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:2185887C>A uc002lvb.3 + 3 195 c.159C>A c.(157-159)CTC>CTA p.L53L NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 53 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCTCAAGCTCGCTATGGAGA 0.438 8 339 --- --- --- --- PASS C19orf35 374872 broad.mit.edu 37 19 2276431 2276431 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:2276431G>C uc002lvn.2 - 4 770 c.670C>G c.(670-672)CTG>GTG p.L224V SPPL2B_uc010dsw.1_Intron NM_198532 NP_940934 Q6ZS72 CS035_HUMAN hypothetical protein LOC374872 224 pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTGGAGACAGGGAGGCCTGC 0.721 3 17 --- --- --- --- PASS GTF2F1 2962 broad.mit.edu 37 19 6392877 6392877 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:6392877C>A uc002meq.2 - 2 335 c.50G>T c.(49-51)CGA>CTA p.R17L GTF2F1_uc010xjc.1_5'Flank NM_002096 NP_002087 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 17 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding 0 CTTAGGAACTCGAACGACGTA 0.582 OREG0025199 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 120 --- --- --- --- PASS CD209 30835 broad.mit.edu 37 19 7812213 7812213 + Silent SNP G T T rs147713865 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:7812213G>T uc002mht.2 - 2 152 c.85C>A c.(85-87)CGA>AGA p.R29R CD209_uc010xju.1_Silent_p.R29R|CD209_uc010dvp.2_Silent_p.R29R|CD209_uc002mhr.2_Silent_p.R29R|CD209_uc002mhs.2_Silent_p.R29R|CD209_uc002mhu.2_Silent_p.R29R|CD209_uc010dvq.2_Silent_p.R29R|CD209_uc002mhq.2_Silent_p.R29R|CD209_uc002mhv.2_Silent_p.R29R|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Silent_p.R29R NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 29 Cytoplasmic (Probable). cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 TTGTATCCTCGAGTCTGTCGG 0.383 10 237 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8550698 8550698 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:8550698C>A uc010dwe.2 + 14 1466 c.1386C>A c.(1384-1386)CTC>CTA p.L462L HNRNPM_uc010xke.1_Silent_p.L408L|HNRNPM_uc010dwd.2_Silent_p.L423L|HNRNPM_uc002mka.2_Silent_p.L327L|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 462 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|9. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 CGCTGGGCCTCGACCACATGG 0.687 4 37 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11332606 11332606 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:11332606C>T uc002mqs.3 - 28 3512 c.3471G>A c.(3469-3471)GTG>GTA p.V1157V DOCK6_uc010xlq.1_Silent_p.V496V NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1157 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CACGAGCCTTCACAGTGGCCT 0.592 8 40 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12461930 12461930 + Nonsense_Mutation SNP G A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:12461930G>A uc002mtr.1 - 6 1080 c.469C>T c.(469-471)CAA>TAA p.Q157* ZNF442_uc010xmk.1_Nonsense_Mutation_p.Q88* NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 GTCCCACATTGTTTATGTGTA 0.403 20 87 --- --- --- --- PASS DHPS 1725 broad.mit.edu 37 19 12790661 12790661 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:12790661C>A uc002muh.1 - 3 545 c.448G>T c.(448-450)GAG>TAG p.E150* DHPS_uc002muf.1_Nonsense_Mutation_p.E27*|DHPS_uc002mug.1_Nonsense_Mutation_p.E108*|DHPS_uc002mui.1_Nonsense_Mutation_p.E150*|DHPS_uc002muj.1_Nonsense_Mutation_p.E150*|DHPS_uc002muk.1_RNA|DHPS_uc010xmn.1_RNA NM_001930 NP_001921 P49366 DHYS_HUMAN deoxyhypusine synthase isoform a 150 peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation cytosol deoxyhypusine synthase activity|protein binding central_nervous_system(1) 1 Sulfadoxine(DB01299) AGGCTAAACTCGCCCAAGTAT 0.607 4 46 --- --- --- --- PASS HAUS8 93323 broad.mit.edu 37 19 17163697 17163697 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:17163697C>A uc002nfe.2 - 10 978 c.867G>T c.(865-867)CAG>CAT p.Q289H HAUS8_uc002nff.2_Missense_Mutation_p.Q288H|HAUS8_uc002nfg.1_Missense_Mutation_p.Q228H|HAUS8_uc002nfh.1_Missense_Mutation_p.Q289H NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 289 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 AGTCCAGCACCTGCACATTTT 0.537 OREG0025339 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 83 --- --- --- --- PASS USHBP1 83878 broad.mit.edu 37 19 17373367 17373367 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:17373367C>T uc002nfs.1 - 4 749 c.636G>A c.(634-636)CAG>CAA p.Q212Q USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Silent_p.Q148Q|USHBP1_uc010eam.1_Silent_p.Q140Q NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 212 Potential. PDZ domain binding ovary(1) 1 TCACCTCTTTCTGCAGCGTCT 0.582 10 19 --- --- --- --- PASS MEF2B 100271849 broad.mit.edu 37 19 19257870 19257870 + Silent SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:19257870T>A uc002nlm.2 - 5 630 c.516A>T c.(514-516)CCA>CCT p.P172P MEF2B_uc002nln.2_Silent_p.P219P|MEF2B_uc002nll.2_Silent_p.P172P|LOC729991-MEF2B_uc010xqo.1_Silent_p.P172P|LOC729991-MEF2B_uc010xqp.1_Silent_p.P172P|LOC729991-MEF2B_uc002nlo.2_Silent_p.P172P|LOC729991-MEF2B_uc002nlp.2_Silent_p.P172P|MEF2B_uc002nlk.2_Silent_p.P175P NM_001145785 NP_001139257 myocyte enhancer factor 2B isoform a skin(1) 1 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) TGGGGGCTGCTGGTCGGAAGG 0.672 5 15 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363137 22363137 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:22363137G>T uc002nqs.1 - 3 1700 c.1382C>A c.(1381-1383)TCC>TAC p.S461Y NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 461 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAAGCTTGAGGACCAGGTGAA 0.418 24 81 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940353 22940353 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:22940353C>T uc010xrh.1 - 5 2085 c.2085G>A c.(2083-2085)AAG>AAA p.K695K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATAGGGTTTCTTTCCAGTAT 0.348 6 34 --- --- --- --- PASS DPY19L3 147991 broad.mit.edu 37 19 32927415 32927415 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:32927415G>T uc002ntg.2 + 5 568 c.392G>T c.(391-393)CGA>CTA p.R131L DPY19L3_uc002nth.1_Missense_Mutation_p.R131L|DPY19L3_uc002nti.1_5'Flank NM_207325 NP_997208 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 131 integral to membrane ovary(4) 4 Esophageal squamous(110;0.162) CTCCTTCAGCGAATGAATATT 0.289 7 126 --- --- --- --- PASS ANKRD27 84079 broad.mit.edu 37 19 33135333 33135333 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:33135333C>A uc002ntn.1 - 5 579 c.423G>T c.(421-423)GTG>GTT p.V141V ANKRD27_uc002nto.1_Silent_p.V141V NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 141 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) AGAACTCTCTCACATCTTCAA 0.502 8 203 --- --- --- --- PASS CCDC123 84902 broad.mit.edu 37 19 33424363 33424363 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:33424363G>T uc002nty.2 - 8 969 c.880C>A c.(880-882)CAG>AAG p.Q294K CCDC123_uc002ntx.2_Missense_Mutation_p.Q47K|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Missense_Mutation_p.Q294K|CCDC123_uc002nua.2_Missense_Mutation_p.Q294K NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 294 Potential. centrosome|spindle pole 0 Esophageal squamous(110;0.137) CCACCTTCCTGTGACGACGCC 0.378 6 109 --- --- --- --- PASS MAP4K1 11184 broad.mit.edu 37 19 39090569 39090569 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:39090569G>T uc002oix.1 - 22 1773 c.1665C>A c.(1663-1665)CTC>CTA p.L555L MAP4K1_uc002oiw.1_Silent_p.L142L|MAP4K1_uc002oiy.1_Silent_p.L555L|MAP4K1_uc010xug.1_Intron NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 555 CNH. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGACCTGAGAGAGACATGA 0.498 6 62 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41076417 41076417 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:41076417C>A uc002ony.2 + 33 7188 c.7102C>A c.(7102-7104)CGG>AGG p.R2368R SPTBN4_uc002onz.2_Silent_p.R2368R|SPTBN4_uc010egx.2_Silent_p.R1111R NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2368 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGGACACCTcggccggaccg 0.433 3 5 --- --- --- --- PASS SNRPA 6626 broad.mit.edu 37 19 41257326 41257326 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:41257326G>T uc002ooz.2 + 1 548 c.13G>T c.(13-15)GAG>TAG p.E5* C19orf54_uc002oou.1_5'Flank|C19orf54_uc002oow.1_5'Flank|C19orf54_uc002oox.1_5'Flank|C19orf54_uc002ooy.1_5'Flank|C19orf54_uc010xvs.1_5'Flank NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 5 nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GGCAGTTCCCGAGACCCGCCC 0.493 6 133 --- --- --- --- PASS GSK3A 2931 broad.mit.edu 37 19 42740862 42740862 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:42740862C>A uc002otb.1 - 4 681 c.562G>T c.(562-564)GAG>TAG p.E188* GSK3A_uc002ota.1_Nonsense_Mutation_p.E106*|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 188 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) AGGTAAAGCTCGTCTTTCTGC 0.562 5 47 --- --- --- --- PASS CIC 23152 broad.mit.edu 37 19 42795796 42795796 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:42795796C>G uc002otf.1 + 11 2825 c.2785C>G c.(2785-2787)CCT>GCT p.P929A NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 929 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) TCTGGCCGCCCCTAGCATGTC 0.677 T DUX4 soft tissue sarcoma 5 55 --- --- --- --- PASS PSG11 5680 broad.mit.edu 37 19 43523145 43523145 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:43523145C>A uc002ovm.1 - 3 593 c.486G>T c.(484-486)ATG>ATT p.M162I PSG11_uc002ouw.2_Missense_Mutation_p.M168I|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.M168I|PSG11_uc002ovn.1_Missense_Mutation_p.M168I|PSG11_uc002ovo.1_Missense_Mutation_p.M40I|PSG11_uc002ovp.1_Missense_Mutation_p.M40I NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 162 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) TCACAGTCTCCATGGCCTCCC 0.527 7 126 --- --- --- --- PASS CADM4 199731 broad.mit.edu 37 19 44131919 44131919 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:44131919C>A uc002oxc.1 - 2 137 c.88G>T c.(88-90)GAG>TAG p.E30* NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 30 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) GTCACGTTCTCTGTCTGTACT 0.522 14 72 --- --- --- --- PASS ZNF180 7733 broad.mit.edu 37 19 44982160 44982160 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:44982160G>T uc002ozf.3 - 5 820 c.538C>A c.(538-540)CAA>AAA p.Q180K ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Missense_Mutation_p.Q153K|ZNF180_uc002ozg.3_Missense_Mutation_p.Q179K|ZNF180_uc010ejm.2_Missense_Mutation_p.Q155K NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GCTTTCCTTTGAGTGAATGCC 0.408 8 111 --- --- --- --- PASS OPA3 80207 broad.mit.edu 37 19 46087920 46087920 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:46087920C>A uc002pck.3 - 1 203 c.103G>T c.(103-105)GAG>TAG p.E35* OPA3_uc002pcj.3_Nonsense_Mutation_p.E35*|OPA3_uc010xxk.1_Intron NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 35 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) TTGAAGAACTCGCTTCGGCGG 0.587 7 65 --- --- --- --- PASS KLK3 354 broad.mit.edu 37 19 51361743 51361743 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:51361743G>T uc002pts.1 + 4 563 c.522G>T c.(520-522)GTG>GTT p.V174V KLK3_uc010ycj.1_Silent_p.V133V|KLK3_uc002ptr.1_Silent_p.V131V|KLK3_uc010eof.1_RNA NM_001030047 NP_001025218 P07288 KLK3_HUMAN prostate specific antigen isoform 3 174 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) TTCAGTGTGTGGACCTCCATG 0.488 7 64 --- --- --- --- PASS KLK7 5650 broad.mit.edu 37 19 51480838 51480838 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:51480838C>T uc002puo.2 - 6 818 c.716G>A c.(715-717)TGC>TAC p.C239Y KLK7_uc002pup.2_Missense_Mutation_p.C239Y|KLK7_uc010yco.1_Missense_Mutation_p.C113Y|KLK7_uc010eok.2_Missense_Mutation_p.C167Y NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 239 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) GGTGAACTTGCACACTTGAGT 0.463 6 55 --- --- --- --- PASS FPR3 2359 broad.mit.edu 37 19 52327252 52327252 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:52327252C>T uc002pxt.1 + 2 435 c.251C>T c.(250-252)TCA>TTA p.S84L NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 84 Extracellular (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 CGAATGGTCTCAGTCGCCATG 0.468 6 50 --- --- --- --- PASS FPR3 2359 broad.mit.edu 37 19 52327257 52327257 + Missense_Mutation SNP G T T rs143250626 by1000genomes TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:52327257G>T uc002pxt.1 + 2 440 c.256G>T c.(256-258)GCC>TCC p.A86S NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 86 Extracellular (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 GGTCTCAGTCGCCATGAGAGA 0.453 16 36 --- --- --- --- PASS ZNF577 84765 broad.mit.edu 37 19 52376052 52376052 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:52376052G>T uc010yde.1 - 7 1582 c.1191C>A c.(1189-1191)TCC>TCA p.S397S ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.3_Silent_p.S338S|ZNF577_uc002pxv.2_Silent_p.S390S|ZNF577_uc002pxw.2_Silent_p.S331S NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN zinc finger protein 577 isoform a 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCATGTATAAGGAGGTATGAC 0.438 8 120 --- --- --- --- PASS KIR2DL1 3802 broad.mit.edu 37 19 55285042 55285042 + Nonsense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:55285042C>T uc002qhb.1 + 3 366 c.328C>T c.(328-330)CAG>TAG p.Q110* KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Nonsense_Mutation_p.Q110* NM_014218 NP_055033 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two 110 Extracellular (Potential). immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) CTCCCCCTATCAGGTGTCAGC 0.527 41 56 --- --- --- --- PASS ZNF264 9422 broad.mit.edu 37 19 57723831 57723831 + Nonsense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:57723831G>T uc002qob.2 + 4 1779 c.1366G>T c.(1366-1368)GAG>TAG p.E456* NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 456 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) AAAGCCTTTCGAGTGCAAAGA 0.517 5 32 --- --- --- --- PASS ZNF551 90233 broad.mit.edu 37 19 58198327 58198327 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr19:58198327C>A uc002qpw.3 + 3 859 c.636C>A c.(634-636)TAC>TAA p.Y212* ZNF551_uc002qpv.3_Nonsense_Mutation_p.Y155*|ZNF776_uc002qpx.2_Intron NM_138347 NP_612356 Q7Z340 ZN551_HUMAN zinc finger protein 551 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGGGTGAATACAGAAAAGCTT 0.443 8 51 --- --- --- --- PASS PSMF1 9491 broad.mit.edu 37 20 1108149 1108149 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:1108149C>A uc002wel.3 + 4 531 c.363C>A c.(361-363)CAC>CAA p.H121Q PSMF1_uc010zpo.1_Missense_Mutation_p.H33Q|PSMF1_uc002wem.3_Missense_Mutation_p.H121Q|PSMF1_uc010zpp.1_Missense_Mutation_p.H121Q|PSMF1_uc002wen.3_Missense_Mutation_p.H121Q NM_178578 NP_848693 Q92530 PSMF1_HUMAN proteasome inhibitor subunit 1 121 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding 0 GTGACTTCCACAGGTACTTCT 0.428 7 123 --- --- --- --- PASS IDH3B 3420 broad.mit.edu 37 20 2640344 2640344 + Splice_Site SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:2640344C>T uc002wgp.2 - 10 1019 c.1010_splice c.e10+1 p.N337_splice IDH3B_uc002wgq.2_Splice_Site_p.N337_splice|IDH3B_uc002wgr.2_Splice_Site_p.N185_splice NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) CCATGACCTACTTAAGATGCC 0.592 20 94 --- --- --- --- PASS VPS16 64601 broad.mit.edu 37 20 2840410 2840410 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:2840410C>A uc002whe.2 + 2 147 c.99C>A c.(97-99)CTC>CTA p.L33L VPS16_uc002whf.2_Silent_p.L33L|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 33 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 AGGAGGAACTCAGGGATTGCC 0.562 7 98 --- --- --- --- PASS RIN2 54453 broad.mit.edu 37 20 19956212 19956212 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:19956212G>T uc002wro.1 + 7 1579 c.1543G>T c.(1543-1545)GTC>TTC p.V515F RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.V309F NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 515 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 GAAGCGGATGGTCCGCAGGAT 0.592 13 50 --- --- --- --- PASS CRNKL1 51340 broad.mit.edu 37 20 20017981 20017981 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:20017981G>T uc002wrs.2 - 14 2397 c.2365C>A c.(2365-2367)CAG>AAG p.Q789K NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 789 HAT 16. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCATCAGTCTGGACCTTTCTT 0.438 8 151 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24523790 24523790 + Silent SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:24523790T>C uc002wtw.1 + 2 690 c.57T>C c.(55-57)GCT>GCC p.A19A NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 19 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 TCAGTGATGCTGGCAAGAGGA 0.537 11 48 --- --- --- --- PASS ZNF337 26152 broad.mit.edu 37 20 25657102 25657102 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:25657102G>T uc002wva.2 - 4 1344 c.822C>A c.(820-822)ACC>ACA p.T274T uc002wuz.2_RNA|ZNF337_uc010ztg.1_Silent_p.T242T|ZNF337_uc002wvb.2_Silent_p.T274T|ZNF337_uc002wvc.2_Silent_p.T274T NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 274 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGACTTACTGGTATAGCCTC 0.517 7 116 --- --- --- --- PASS TPX2 22974 broad.mit.edu 37 20 30385255 30385255 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:30385255C>A uc002wwp.1 + 16 2580 c.1882C>A c.(1882-1884)CGT>AGT p.R628S TPX2_uc010gdv.1_Missense_Mutation_p.R664S NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 628 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) TTTCAAGGCTCGTCCAAACAC 0.448 6 174 --- --- --- --- PASS EDEM2 55741 broad.mit.edu 37 20 33703284 33703284 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:33703284G>T uc002xbo.2 - 11 1789 c.1689C>A c.(1687-1689)TTC>TTA p.F563L EDEM2_uc010zus.1_Missense_Mutation_p.F342L|EDEM2_uc002xbq.2_Missense_Mutation_p.F526L|EDEM2_uc010zut.1_Missense_Mutation_p.F522L|EDEM2_uc002xbp.2_Missense_Mutation_p.F411L|EDEM2_uc002xbn.2_Missense_Mutation_p.F411L|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.F287L NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 563 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) ACTTGGAGGTGAAGGGCTGAC 0.448 8 123 --- --- --- --- PASS UQCC 55245 broad.mit.edu 37 20 33999756 33999756 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:33999756A>G uc002xcd.2 - 1 78 c.11T>C c.(10-12)CTG>CCG p.L4P UQCC_uc010zuz.1_5'UTR|UQCC_uc010zva.1_Missense_Mutation_p.L4P|UQCC_uc002xce.2_Missense_Mutation_p.L4P|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.L4P|UQCC_uc010zvb.1_Missense_Mutation_p.L4P|UQCC_uc002xcf.2_5'UTR|GDF5_uc010gfc.1_Intron|UQCC_uc010gfd.1_5'UTR NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 4 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) GACTCGCACCAGCAACGCCAT 0.542 16 63 --- --- --- --- PASS PLCG1 5335 broad.mit.edu 37 20 39788562 39788562 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:39788562G>T uc002xjp.1 + 3 544 c.423G>T c.(421-423)ATG>ATT p.M141I PLCG1_uc002xjo.1_Missense_Mutation_p.M141I NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 141 PH 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) CTTGGCTGATGGAGGATACAT 0.547 6 59 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40733286 40733286 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:40733286C>A uc002xkg.2 - 25 3647 c.3463G>T c.(3463-3465)GAG>TAG p.E1155* PTPRT_uc010ggj.2_Nonsense_Mutation_p.E1174*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.E358* NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1155 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAACGGAACTCACACACAGGG 0.512 6 75 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44641162 44641162 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:44641162G>T uc002xqz.2 + 8 1290 c.1271G>T c.(1270-1272)CGC>CTC p.R424L NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 424 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCTATGTACCGCTTCACTGAG 0.617 12 37 --- --- --- --- PASS NCOA3 8202 broad.mit.edu 37 20 46268381 46268381 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:46268381C>A uc002xtk.2 + 15 2973 c.2768C>A c.(2767-2769)CCA>CAA p.P923Q NCOA3_uc010ght.1_Missense_Mutation_p.P918Q|NCOA3_uc002xtl.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtm.2_Missense_Mutation_p.P923Q|NCOA3_uc002xtn.2_Missense_Mutation_p.P923Q|NCOA3_uc010zyc.1_Missense_Mutation_p.P718Q NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 923 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TGGGGCTTACCAAACTCAAAG 0.468 9 129 --- --- --- --- PASS STAU1 6780 broad.mit.edu 37 20 47782640 47782640 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:47782640C>A uc002xud.2 - 3 510 c.99G>T c.(97-99)ATG>ATT p.M33I STAU1_uc002xua.2_Intron|STAU1_uc002xub.2_Intron|STAU1_uc002xuc.2_Intron|STAU1_uc002xue.2_Intron|STAU1_uc002xuf.2_Intron|STAU1_uc002xug.2_Missense_Mutation_p.M33I NM_017453 NP_059347 O95793 STAU1_HUMAN staufen isoform b 33 microtubule associated complex|rough endoplasmic reticulum|stress granule double-stranded RNA binding ovary(4)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198) AAGGAATACTCATCAAAGGCT 0.463 7 116 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52645048 52645048 + Missense_Mutation SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:52645048C>G uc002xws.2 - 4 944 c.606G>C c.(604-606)AAG>AAC p.K202N BCAS1_uc010zzb.1_Missense_Mutation_p.K105N|BCAS1_uc010gim.2_Missense_Mutation_p.K105N|BCAS1_uc002xwt.2_Missense_Mutation_p.K202N|BCAS1_uc010gil.1_Missense_Mutation_p.K202N|BCAS1_uc010zzc.1_Missense_Mutation_p.K105N NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 202 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TTTCCTGTCCCTTGTCCAGCT 0.552 36 99 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61511697 61511697 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr20:61511697C>T uc002ydr.1 - 16 5875 c.5611G>A c.(5611-5613)GAA>AAA p.E1871K DIDO1_uc002yds.1_Missense_Mutation_p.E1871K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1871 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TCTGTCCCTTCAAACTGGGCG 0.622 5 25 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19716354 19716354 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:19716354C>A uc002ykw.2 - 11 1226 c.1195G>T c.(1195-1197)GGA>TGA p.G399* NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 399 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 CCTCCTGGTCCAGTTGGGGTA 0.403 13 53 --- --- --- --- PASS RNF160 26046 broad.mit.edu 37 21 30304965 30304965 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:30304965G>T uc002ymr.2 - 28 5048 c.5035C>A c.(5035-5037)CGA>AGA p.R1679R NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1633 ligase activity|zinc ion binding 0 ATTACCTCTCGAGTAGTAGCT 0.338 7 118 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33068523 33068523 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:33068523C>A uc002ypd.2 - 9 1397 c.971G>T c.(970-972)GGA>GTA p.G324V SFRS15_uc002ype.2_Missense_Mutation_p.G324V|SFRS15_uc010glu.2_Missense_Mutation_p.G309V|SFRS15_uc002ypf.1_5'UTR NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 324 nucleus nucleotide binding|RNA binding 0 CATGCCATCTCCAGGAAAGCC 0.423 7 106 --- --- --- --- PASS GCFC1 94104 broad.mit.edu 37 21 34132155 34132155 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:34132155A>C uc002yqn.2 - 6 1316 c.1126T>G c.(1126-1128)TTC>GTC p.F376V GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F376V|GCFC1_uc002yqr.2_Missense_Mutation_p.F376V NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 376 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GGAGTTTTGAAAGGGACTGTA 0.413 13 70 --- --- --- --- PASS CHAF1B 8208 broad.mit.edu 37 21 37775112 37775112 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:37775112G>T uc002yvj.2 + 8 858 c.720G>T c.(718-720)CTG>CTT p.L240L NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 240 WD 5. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 TCCGTAGACTGAGTTTCACTC 0.438 10 186 --- --- --- --- PASS PCP4 5121 broad.mit.edu 37 21 41301006 41301006 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:41301006C>A uc002yyp.2 + 3 240 c.159C>A c.(157-159)TTC>TTA p.F53L NM_006198 NP_006189 P48539 PCP4_HUMAN Purkinje cell protein 4 53 IQ. central nervous system development cytosol|nucleus large_intestine(1) 1 Prostate(19;2.65e-06)|all_epithelial(19;0.138) TCAGAAAATTCCAGAAGAAGA 0.448 5 31 --- --- --- --- PASS PDXK 8566 broad.mit.edu 37 21 45161591 45161591 + Silent SNP C G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr21:45161591C>G uc002zdm.3 + 3 384 c.186C>G c.(184-186)CTC>CTG p.L62L PDXK_uc010gpj.2_Silent_p.L62L|PDXK_uc002zdn.3_Silent_p.L62L|PDXK_uc002zdq.3_5'UTR NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 62 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CAGATGAGCTCCAGGAGTTGT 0.587 6 37 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18300884 18300884 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:18300884C>A uc002zng.3 - 26 4896 c.4543G>T c.(4543-4545)GAG>TAG p.E1515* MICAL3_uc011agl.1_Nonsense_Mutation_p.E1431*|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1515 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) TCCACGCTCTCCACAAACGAC 0.632 7 14 --- --- --- --- PASS MICAL3 57553 broad.mit.edu 37 22 18300885 18300885 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:18300885C>A uc002zng.3 - 26 4895 c.4542G>T c.(4540-4542)GTG>GTT p.V1514V MICAL3_uc011agl.1_Silent_p.V1430V|MICAL3_uc010gre.1_5'Flank NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1514 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CCACGCTCTCCACAAACGACT 0.632 7 14 --- --- --- --- PASS CRKL 1399 broad.mit.edu 37 22 21288203 21288203 + Silent SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:21288203C>T uc002ztf.2 + 2 957 c.448C>T c.(448-450)CTA>TTA p.L150L CRKL_uc002ztg.1_RNA NM_005207 NP_005198 P46109 CRKL_HUMAN v-crk sarcoma virus CT10 oncogene homolog 150 SH3 1. JNK cascade|Ras protein signal transduction cytosol protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity 0 all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176) GGGTGAGATCCTAGTGATAAT 0.483 14 51 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23247189 23247189 + RNA SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:23247189C>A uc011aim.1 + 373 c.15992C>A uc002zws.2_Intron Parts of antibodies, mostly variable regions. 0 GCGGAGGGACCAAGCTGACCG 0.542 6 79 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30416160 30416160 + Missense_Mutation SNP A G G TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:30416160A>G uc003agv.3 + 17 2840 c.2512A>G c.(2512-2514)AGA>GGA p.R838G MTMR3_uc003agu.3_Missense_Mutation_p.R838G|MTMR3_uc003agw.3_Missense_Mutation_p.R838G NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 838 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TTTTGAGACCAGAGGACCAAA 0.463 17 74 --- --- --- --- PASS EIF4ENIF1 56478 broad.mit.edu 37 22 31838065 31838065 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:31838065C>A uc003akz.1 - 17 2410 c.2246G>T c.(2245-2247)CGA>CTA p.R749L EIF4ENIF1_uc003akx.1_Missense_Mutation_p.R404L|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.R429L|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.R749L|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.R575L|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.R239L NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 749 nucleus protein binding|protein transporter activity ovary(1) 1 AGAAGAGTCTCGATCGGCACT 0.483 7 115 --- --- --- --- PASS HMGXB4 10042 broad.mit.edu 37 22 35660936 35660936 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:35660936G>T uc003anl.2 + 5 729 c.555G>T c.(553-555)CGG>CGT p.R185R HMGXB4_uc011amh.1_Silent_p.R76R|HMGXB4_uc003ank.2_Silent_p.R76R NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 185 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 TGACCCTTCGGGAGCCTGATG 0.463 8 131 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36696899 36696899 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:36696899G>T uc003apg.2 - 22 3067 c.2836C>A c.(2836-2838)CAG>AAG p.Q946K MYH9_uc003aph.1_Missense_Mutation_p.Q810K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 946 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GCAGGAACCTGGATGTTCTGC 0.642 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 5 31 --- --- --- --- PASS NCF4 4689 broad.mit.edu 37 22 37260122 37260122 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:37260122C>A uc003apy.3 + 2 252 c.68C>A c.(67-69)TCG>TAG p.S23* NCF4_uc003apz.3_Nonsense_Mutation_p.S23* NM_000631 NP_000622 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4 isoform 1 23 PX. cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity ovary(1) 1 GTTGCCATCTCGGCCAACATT 0.522 5 136 --- --- --- --- PASS ZBED4 9889 broad.mit.edu 37 22 50278129 50278129 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:50278129G>C uc003bix.2 + 2 1289 c.819G>C c.(817-819)AAG>AAC p.K273N NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 273 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TAGCGGAGAAGAGCCTTCCAC 0.572 4 81 --- --- --- --- PASS SAPS2 9701 broad.mit.edu 37 22 50845250 50845250 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr22:50845250C>A uc003blb.1 + 5 782 c.360C>A c.(358-360)CTC>CTA p.L120L SAPS2_uc003bky.1_Silent_p.L120L|SAPS2_uc003bkz.1_Silent_p.L120L|SAPS2_uc003blc.2_Silent_p.L120L|SAPS2_uc003bla.1_Silent_p.L120L NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 120 cytoplasm|intracellular membrane-bounded organelle protein binding 0 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;0.222) ATCCTCTGCTCGCCAGTTTTT 0.557 7 260 --- --- --- --- PASS CA5B 11238 broad.mit.edu 37 X 15768283 15768283 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:15768283G>T uc004cxe.2 + 2 254 c.137G>T c.(136-138)CGA>CTA p.R46L NM_007220 NP_009151 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial precursor 46 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding 0 Hepatocellular(33;0.183) ACCCGGAACCGAGCCTGTGAG 0.358 5 51 --- --- --- --- PASS CDKL5 6792 broad.mit.edu 37 X 18616696 18616696 + Missense_Mutation SNP A C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:18616696A>C uc004cym.2 + 11 1193 c.940A>C c.(940-942)AAA>CAA p.K314Q CDKL5_uc004cyn.2_Missense_Mutation_p.K314Q NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 314 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) AGCAAAAAGAAAACCTTACCA 0.423 8 35 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22095759 22095759 + Missense_Mutation SNP C T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:22095759C>T uc004dah.2 + 5 805 c.602C>T c.(601-603)TCT>TTT p.S201F PHEX_uc011mjr.1_Missense_Mutation_p.S201F|PHEX_uc011mjs.1_Missense_Mutation_p.S104F NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 201 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 TACAGCAATTCTGTGTTCATC 0.443 23 50 --- --- --- --- PASS APOO 79135 broad.mit.edu 37 X 23858459 23858459 + Nonstop_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:23858459C>A uc004dax.2 - 8 828 c.597G>T c.(595-597)TAG>TAT p.*199Y APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 199 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 ATGGAGTTTTCTACTTAGTTC 0.343 7 110 --- --- --- --- PASS FAM48B1 100130302 broad.mit.edu 37 X 24381386 24381386 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:24381386C>A uc011mjx.1 + 1 509 c.509C>A c.(508-510)ACG>AAG p.T170K NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CTACGTCCAACGATGCAGACT 0.468 5 83 --- --- --- --- PASS CXorf21 80231 broad.mit.edu 37 X 30577741 30577741 + Silent SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:30577741G>C uc004dcg.1 - 3 1008 c.732C>G c.(730-732)CTC>CTG p.L244L NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 244 ovary(1) 1 TTGTCATGATGAGTTCAGACG 0.428 6 20 --- --- --- --- PASS CXorf21 80231 broad.mit.edu 37 X 30577970 30577970 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:30577970G>C uc004dcg.1 - 3 779 c.503C>G c.(502-504)TCC>TGC p.S168C NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 168 ovary(1) 1 AGTAGAAATGGAATCCTCCAT 0.428 6 14 --- --- --- --- PASS CXorf21 80231 broad.mit.edu 37 X 30578451 30578451 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:30578451T>C uc004dcg.1 - 3 298 c.22A>G c.(22-24)AGT>GGT p.S8G NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 8 ovary(1) 1 TCAAGTCCACTGAGATACCCT 0.408 12 10 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54275131 54275131 + Missense_Mutation SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:54275131T>A uc004dtd.1 - 17 4089 c.3650A>T c.(3649-3651)CAT>CTT p.H1217L WNK3_uc004dtc.1_Missense_Mutation_p.H1217L NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1217 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GATACTTACATGTAAACACAA 0.368 6 9 --- --- --- --- PASS VSIG4 11326 broad.mit.edu 37 X 65252402 65252402 + Missense_Mutation SNP G T T rs150666044 TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:65252402G>T uc004dwh.2 - 3 729 c.602C>A c.(601-603)GCG>GAG p.A201E VSIG4_uc004dwi.2_Intron|VSIG4_uc010nkq.1_Missense_Mutation_p.A201E|VSIG4_uc004dwj.2_Missense_Mutation_p.A201E|VSIG4_uc011moy.1_Intron|VSIG4_uc004dwk.2_Missense_Mutation_p.A201E|VSIG4_uc004dwl.2_Missense_Mutation_p.A97E NM_007268 NP_009199 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 201 Ig-like 2.|Extracellular (Potential). complement activation, alternative pathway integral to membrane protein binding 0 GGCTATCACCGCAGGCTTGAA 0.502 12 14 --- --- --- --- PASS ABCB7 22 broad.mit.edu 37 X 74282203 74282203 + Missense_Mutation SNP T C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:74282203T>C uc004eca.2 - 14 1920 c.1895A>G c.(1894-1896)TAT>TGT p.Y632C ABCB7_uc004ebz.2_Missense_Mutation_p.Y633C|ABCB7_uc011mqn.1_Missense_Mutation_p.Y606C|ABCB7_uc010nls.2_Missense_Mutation_p.Y593C|ABCB7_uc010nlt.2_Missense_Mutation_p.Y592C NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 632 ABC transporter. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 AGCTTCATCATAGAGTATGAC 0.353 19 23 --- --- --- --- PASS ATP7A 538 broad.mit.edu 37 X 77301961 77301961 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:77301961C>A uc004ecx.3 + 23 4557 c.4397C>A c.(4396-4398)TCA>TAA p.S1466* NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1466 Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TCTATAAACTCACTACTGTCT 0.443 7 100 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 79975108 79975108 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:79975108G>T uc004edt.2 - 18 2187 c.1924C>A c.(1924-1926)CAA>AAA p.Q642K BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.Q238K|BRWD3_uc004edp.2_Missense_Mutation_p.Q471K|BRWD3_uc004edq.2_Missense_Mutation_p.Q238K|BRWD3_uc010nmj.1_Missense_Mutation_p.Q238K|BRWD3_uc004edr.2_Missense_Mutation_p.Q312K|BRWD3_uc004eds.2_Missense_Mutation_p.Q238K|BRWD3_uc004edu.2_Missense_Mutation_p.Q312K|BRWD3_uc004edv.2_Missense_Mutation_p.Q238K|BRWD3_uc004edw.2_Missense_Mutation_p.Q238K|BRWD3_uc004edx.2_Missense_Mutation_p.Q238K|BRWD3_uc004edy.2_Missense_Mutation_p.Q238K|BRWD3_uc004edz.2_Missense_Mutation_p.Q312K|BRWD3_uc004eea.2_Missense_Mutation_p.Q312K|BRWD3_uc004eeb.2_Missense_Mutation_p.Q238K NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 642 ovary(4) 4 CTCTCATCTTGGTCATTGGTT 0.383 7 74 --- --- --- --- PASS KLHL4 56062 broad.mit.edu 37 X 86773049 86773049 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:86773049G>T uc004efb.2 + 1 335 c.153G>T c.(151-153)AGG>AGT p.R51S KLHL4_uc004efa.2_Missense_Mutation_p.R51S NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 51 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TTCAGGGCAGGTTGAAGAGCC 0.547 5 19 --- --- --- --- PASS RAB40AL 282808 broad.mit.edu 37 X 102192998 102192998 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:102192998G>T uc004ejs.2 + 1 799 c.752G>T c.(751-753)AGG>ATG p.R251M NM_001031834 NP_001027004 P0C0E4 RB40L_HUMAN RAB40A, member RAS oncogene family-like 251 protein transport|small GTPase mediated signal transduction mitochondrion|plasma membrane GTP binding ovary(2) 2 ACTCACAAAAGGAGCAGCCTC 0.527 6 45 --- --- --- --- PASS FAM199X 139231 broad.mit.edu 37 X 103432970 103432970 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:103432970C>A uc004elw.2 + 5 1145 c.979C>A c.(979-981)CGG>AGG p.R327R FAM199X_uc004elx.2_Intron NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 327 ovary(1) 1 TGCAGCAGAGCGGATTCGGGA 0.403 5 66 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105183976 105183976 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:105183976G>T uc004emd.2 + 23 4213 c.3910G>T c.(3910-3912)GCC>TCC p.A1304S NRK_uc010npc.1_Missense_Mutation_p.A972S NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1304 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GACAGAGGAAGCCTGCAAAGC 0.388 HNSCC(51;0.14) 4 13 --- --- --- --- PASS MORC4 79710 broad.mit.edu 37 X 106228456 106228456 + Nonsense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:106228456C>A uc004emu.3 - 5 787 c.544G>T c.(544-546)GAG>TAG p.E182* MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Nonsense_Mutation_p.E182*|MORC4_uc004emw.3_Intron NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 182 ATP binding|zinc ion binding ovary(1) 1 AATGAATCCTCGGTAATAATC 0.373 5 108 --- --- --- --- PASS MID2 11043 broad.mit.edu 37 X 107160757 107160757 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:107160757G>T uc004enl.2 + 7 1796 c.1223G>T c.(1222-1224)CGA>CTA p.R408L MID2_uc004enk.2_Missense_Mutation_p.R408L NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 408 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CCATCTATCCGAGAAGAACTC 0.443 6 105 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107979494 107979494 + Silent SNP T A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:107979494T>A uc004eoc.2 - 1 114 c.81A>T c.(79-81)GCA>GCT p.A27A NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 27 Poly-Ala. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 TCACCACTGCTGCTAGAGCTG 0.617 9 10 --- --- --- --- PASS CUL4B 8450 broad.mit.edu 37 X 119664005 119664005 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:119664005G>T uc004esw.2 - 21 3035 c.2598C>A c.(2596-2598)CAC>CAA p.H866Q CUL4B_uc010nqq.2_Missense_Mutation_p.H567Q|CUL4B_uc004esv.2_Missense_Mutation_p.H848Q NM_003588 NP_003579 Q13620 CUL4B_HUMAN cullin 4B isoform 1 866 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding lung(1)|central_nervous_system(1)|pancreas(1) 3 CAAGGAGATTGTGGCTAAGTG 0.353 6 109 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122765633 122765633 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:122765633C>A uc004etu.2 - 22 2419 c.2387G>T c.(2386-2388)CGA>CTA p.R796L THOC2_uc011muh.1_Missense_Mutation_p.R721L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 796 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TGAAGGCACTCGCTTTATATA 0.368 6 118 --- --- --- --- PASS OCRL 4952 broad.mit.edu 37 X 128710040 128710040 + Splice_Site SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:128710040G>T uc004euq.2 + 17 2044 c.1879_splice c.e17+1 p.N627_splice OCRL_uc004eur.2_Splice_Site_p.N627_splice NM_000276 NP_000267 Q01968 OCRL_HUMAN phosphatidylinositol polyphosphate 5-phosphatase regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding lung(2)|ovary(1)|kidney(1) 4 TTGGAGCCAAGTGAGTTTTCC 0.458 5 55 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130217734 130217734 + Missense_Mutation SNP A T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:130217734A>T uc004evz.2 + 4 691 c.346A>T c.(346-348)AGC>TGC p.S116C ARHGAP36_uc004ewa.2_Missense_Mutation_p.S104C|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S85C|ARHGAP36_uc004ewc.2_5'UTR NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 116 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 ATTTGGCATTAGCCTGGAAGA 0.557 39 54 --- --- --- --- PASS GPC4 2239 broad.mit.edu 37 X 132458415 132458415 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:132458415G>T uc004exc.1 - 3 681 c.469C>A c.(469-471)CTG>ATG p.L157M GPC4_uc011mvg.1_Missense_Mutation_p.L87M NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 157 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) ATTTCTTCCAGGTTCACATTT 0.438 7 79 --- --- --- --- PASS CD40LG 959 broad.mit.edu 37 X 135741406 135741406 + Silent SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:135741406C>A uc004faa.2 + 5 690 c.618C>A c.(616-618)CTC>CTA p.L206L CD40LG_uc010nsd.2_Silent_p.L185L NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 206 Extracellular (Potential). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) GAATCTTACTCAGAGCTGCAA 0.498 Immune_Deficiency_with_Hyper-IgM 7 89 --- --- --- --- PASS CDR1 1038 broad.mit.edu 37 X 139866047 139866047 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:139866047C>A uc004fbg.1 - 1 677 c.485G>T c.(484-486)AGA>ATA p.R162I uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 162 4.|6 X 6 AA approximate repeats. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CAATCCAAGTCTTCCGGATAA 0.448 27 56 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140993421 140993421 + Missense_Mutation SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:140993421G>C uc004fbt.2 + 4 517 c.231G>C c.(229-231)CAG>CAC p.Q77H MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 77 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCAGTCTCCTCTCC 0.592 HNSCC(15;0.026) 14 27 --- --- --- --- PASS FMR1 2332 broad.mit.edu 37 X 147011672 147011672 + Missense_Mutation SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:147011672G>T uc010nst.2 + 7 728 c.539G>T c.(538-540)CGA>CTA p.R180L FMR1_uc011mwz.1_Missense_Mutation_p.R180L|FMR1_uc004fcj.2_Missense_Mutation_p.R180L|FMR1_uc004fck.3_Missense_Mutation_p.R180L|FMR1_uc004fcl.3_Missense_Mutation_p.R41L|FMR1_uc011mxa.1_5'UTR NM_002024 NP_002015 Q06787 FMR1_HUMAN fragile X mental retardation 1 180 mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) ACCTCAAAGCGAGCACATATG 0.373 Fragile_X_syndrome 5 57 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 147967502 147967502 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:147967502C>A uc004fcp.2 + 8 1825 c.1346C>A c.(1345-1347)ACT>AAT p.T449N AFF2_uc004fco.2_Missense_Mutation_p.T410N|AFF2_uc004fcq.2_Missense_Mutation_p.T439N|AFF2_uc004fcr.2_Missense_Mutation_p.T410N|AFF2_uc011mxb.1_Missense_Mutation_p.T414N|AFF2_uc004fcs.2_Missense_Mutation_p.T416N|AFF2_uc011mxc.1_Missense_Mutation_p.T90N NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 449 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGCACTGCCACTGAGCTCTAC 0.502 6 74 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148037297 148037297 + Silent SNP G T T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:148037297G>T uc004fcp.2 + 11 2201 c.1722G>T c.(1720-1722)ACG>ACT p.T574T AFF2_uc004fcq.2_Silent_p.T564T|AFF2_uc004fcr.2_Silent_p.T535T|AFF2_uc011mxb.1_Silent_p.T539T|AFF2_uc004fcs.2_Silent_p.T541T|AFF2_uc011mxc.1_Silent_p.T215T NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 574 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AAGTGAAGACGAATGCCAGTC 0.473 5 89 --- --- --- --- PASS TMEM185A 84548 broad.mit.edu 37 X 148690401 148690401 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:148690401C>A uc011mxq.1 - 4 647 c.336G>T c.(334-336)TGG>TGT p.W112C HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|TMEM185A_uc011mxp.1_Missense_Mutation_p.W53C|TMEM185A_uc004fdo.2_Intron|TMEM185A_uc004fdp.3_Missense_Mutation_p.W29C NM_032508 NP_115897 Q8NFB2 T185A_HUMAN transmembrane protein 185A 112 Helical; (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) AGACCAGGAGCCAGAAATGGC 0.483 16 29 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150911689 150911689 + Silent SNP G C C TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrX:150911689G>C uc004fey.1 + 7 938 c.714G>C c.(712-714)GTG>GTC p.V238V NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 238 Helical; Name=H3; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) ATTTTGCTGTGGACATCCACA 0.517 3 42 --- --- --- --- PASS USP9Y 8287 broad.mit.edu 37 Y 14959215 14959215 + Missense_Mutation SNP C A A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chrY:14959215C>A uc004fst.1 + 42 7972 c.7027C>A c.(7027-7029)CAA>AAA p.Q2343K USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 2343 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 TCTACTTTTCCAAATTTTACT 0.333 6 74 --- --- --- --- PASS CD9 928 broad.mit.edu 37 12 6341859 6341859 + Frame_Shift_Del DEL C - - TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr12:6341859delC uc001qnp.1 + 4 681 c.237delC c.(235-237)TGCfs p.C79fs CD9_uc010seu.1_Frame_Shift_Del_p.C79fs|CD9_uc010sev.1_Frame_Shift_Del_p.C79fs|CD9_uc001qnq.1_Frame_Shift_Del_p.C79fs NM_001769 NP_001760 P21926 CD9_HUMAN CD9 antigen 79 Cytoplasmic (Potential). C->A: Loss of palmitoylation; when associated with A-9; A-78; A-87; A-218 and A-219. cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane ovary(1) 1 TGGGCTGCTGCGGGGCTGTGC 0.622 4 2 --- --- --- --- TUBGCP5 114791 broad.mit.edu 37 15 22833557 22833557 + Frame_Shift_Del DEL G - - TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx f5aa0f1c-da19-4c04-b695-01ed5b20e79e 171b9599-597b-4907-b8f6-6ec380460f02 g.chr15:22833557delG uc001yur.3 + 1 163 c.33delG c.(31-33)TTGfs p.L11fs TUBGCP5_uc001yuq.2_Frame_Shift_Del_p.L11fs NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 11 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GGAGTCGGTTGGACGCGCAGC 0.701 4 2 --- --- --- ---