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 NECAP2 55707 broad.mit.edu 37 1 16775693 16775693 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:16775693C>T uc001ayo.2 + 5 576 c.486C>T c.(484-486)ATC>ATT p.I162I NECAP2_uc001ayp.3_RNA|NECAP2_uc010ocd.1_Silent_p.I136I|NECAP2_uc001ayq.2_Silent_p.I162I NM_018090 NP_060560 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 isoform 1 162 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) AGCTCAACATCGCAGTGAGTT 0.502 6 12 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22913107 22913107 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:22913107C>T uc001bfx.1 + 4 1083 c.958C>T c.(958-960)CCG>TCG p.P320S EPHA8_uc001bfw.2_Missense_Mutation_p.P320S NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 320 Extracellular (Potential).|Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGCCCTGGACCCGCCGTCCTC 0.677 17 24 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29609186 29609186 + Splice_Site SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:29609186A>T uc001bru.2 + 12 1979 c.1869_splice c.e12-2 p.S623_splice PTPRU_uc001brv.2_Splice_Site_p.S623_splice|PTPRU_uc001brw.2_Splice_Site_p.S623_splice|PTPRU_uc009vtq.2_Splice_Site_p.S623_splice|PTPRU_uc009vtr.2_Splice_Site_p.S623_splice NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CTCCCTGTCCAGTGTGTACCA 0.493 8 37 --- --- --- --- PASS WDR63 126820 broad.mit.edu 37 1 85564330 85564330 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:85564330G>A uc001dkt.2 + 13 1659 c.1468G>A c.(1468-1470)GAC>AAC p.D490N WDR63_uc009wcl.2_Missense_Mutation_p.D451N NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 490 WD 2. upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CTGGTTGTCTGACACATTTGA 0.348 49 61 --- --- --- --- PASS PALMD 54873 broad.mit.edu 37 1 100154844 100154844 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:100154844C>T uc001dsg.2 + 7 1471 c.1028C>T c.(1027-1029)CCG>CTG p.P343L PALMD_uc001dsf.2_Missense_Mutation_p.P343L NM_017734 NP_060204 Q9NP74 PALMD_HUMAN palmdelphin 343 regulation of cell shape cytoplasm|membrane ovary(2)|pancreas(1) 3 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CTTCACACCCCGCAAAAAAGG 0.488 25 37 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114319901 114319901 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:114319901A>G uc001edq.2 - 4 1625 c.1589T>C c.(1588-1590)ATG>ACG p.M530T RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 530 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCTTACCCACATTATAGGCCC 0.443 47 110 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117131648 117131648 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:117131648A>T uc001egr.1 - 8 2813 c.2108T>A c.(2107-2109)GTC>GAC p.V703D IGSF3_uc001egq.1_Missense_Mutation_p.V723D|IGSF3_uc001egs.1_Missense_Mutation_p.V376D NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 703 Ig-like C2-type 6.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CTGAGACTTGACTGAGCAGTT 0.527 46 101 --- --- --- --- PASS ANKRD35 148741 broad.mit.edu 37 1 145562900 145562900 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:145562900C>T uc001eob.1 + 10 2696 c.2588C>T c.(2587-2589)GCC>GTC p.A863V NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A706V NM_144698 NP_653299 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 863 Potential. ovary(4)|skin(1) 5 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TATAATACGGCCTGCCGGGAA 0.677 7 19 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283513 152283513 + Silent SNP G A A rs150992326 byFrequency TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:152283513G>A uc001ezu.1 - 3 3885 c.3849C>T c.(3847-3849)TCC>TCT p.S1283S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1283 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) ACAACCTCTCGGAGTCGTCTG 0.383 Ichthyosis 111 238 --- --- --- --- PASS INTS3 65123 broad.mit.edu 37 1 153735804 153735804 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:153735804C>T uc009wom.2 + 17 1953 c.1732C>T c.(1732-1734)CTG>TTG p.L578L INTS3_uc001fct.2_Silent_p.L578L|INTS3_uc001fcu.2_Silent_p.L270L|INTS3_uc001fcv.2_Silent_p.L372L|INTS3_uc010peb.1_Silent_p.L372L|INTS3_uc001fcw.2_Silent_p.L91L|INTS3_uc010pec.1_Silent_p.L91L NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 579 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGATGAGTCCCTGAGGGACAA 0.512 4 176 --- --- --- --- PASS TDRD10 126668 broad.mit.edu 37 1 154492811 154492811 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:154492811A>G uc009wow.2 + 5 1011 c.173A>G c.(172-174)AAC>AGC p.N58S TDRD10_uc001ffd.2_Missense_Mutation_p.N58S|TDRD10_uc001ffe.2_5'Flank NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 58 RRM. nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) AAGGACTTCAACCCTCTTGAT 0.418 28 62 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154544002 154544002 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:154544002C>T uc001ffg.2 + 5 967 c.703C>T c.(703-705)CTC>TTC p.L235F NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 235 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CCGCAAGCCGCTCTTCTACAC 0.572 50 134 --- --- --- --- PASS CRABP2 1382 broad.mit.edu 37 1 156675204 156675204 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:156675204C>T uc001fpr.2 - 1 172 c.35G>A c.(34-36)CGA>CAA p.R12Q NM_001878 NP_001869 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 12 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity upper_aerodigestive_tract(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) GTTTTCCGATCGGATGATTTT 0.577 34 86 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158943530 158943530 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:158943530A>T uc001ftb.2 + 8 1698 c.1453A>T c.(1453-1455)ACC>TCC p.T485S PYHIN1_uc001ftc.2_Missense_Mutation_p.T476S|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 485 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) TGACACTTCCACCAACCGCCA 0.458 35 79 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176760601 176760601 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:176760601A>T uc001gkz.2 + 19 6167 c.5003A>T c.(5002-5004)GAA>GTA p.E1668V PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1668 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TACAAATGTGAACAAGGATAT 0.388 17 60 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182025847 182025847 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:182025847G>A uc001goz.2 - 2 1507 c.1299C>T c.(1297-1299)TCC>TCT p.S433S NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 433 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CGGACAGATTGGAGGACTTGG 0.692 3 4 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186278006 186278006 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:186278006C>G uc001gru.3 + 7 3206 c.3155C>G c.(3154-3156)CCC>CGC p.P1052R PRG4_uc001grt.3_Missense_Mutation_p.P1011R|PRG4_uc009wyl.2_Missense_Mutation_p.P959R|PRG4_uc009wym.2_Missense_Mutation_p.P918R|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 1052 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACACCAACTCCCCGCAAGATG 0.458 5 107 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197403847 197403847 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:197403847G>T uc001gtz.2 + 9 2989 c.2854G>T c.(2854-2856)GCT>TCT p.A952S CRB1_uc010poz.1_Missense_Mutation_p.A928S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A840S|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.A433S|CRB1_uc001gub.1_Missense_Mutation_p.A601S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 952 Extracellular (Potential).|EGF-like 14.|Laminin G-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TATTGCAAATGCTGTTTTTAA 0.308 22 54 --- --- --- --- PASS IGFN1 91156 broad.mit.edu 37 1 201196154 201196154 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:201196154A>G uc001gwc.2 + 12 3183 c.2411A>G c.(2410-2412)CAC>CGC p.H804R IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CCCCGGCCCCACGTCACCTGG 0.677 26 64 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216420069 216420069 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:216420069C>G uc001hku.1 - 13 3054 c.2667G>C c.(2665-2667)TTG>TTC p.L889F USH2A_uc001hkv.2_Missense_Mutation_p.L889F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 889 Laminin EGF-like 7.|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) TGTCAATGGTCAAATTGTACC 0.468 HNSCC(13;0.011) 97 142 --- --- --- --- PASS SNAP47 116841 broad.mit.edu 37 1 227935399 227935399 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr1:227935399A>G uc001hrf.2 + 2 511 c.97A>G c.(97-99)AAG>GAG p.K33E SNAP47_uc001hqz.2_5'UTR|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_Missense_Mutation_p.K33E|SNAP47_uc001hre.2_Intron|SNAP47_uc001hrg.1_5'UTR NM_053052 NP_444280 Q5SQN1 SNP47_HUMAN synaptosomal-associated protein, 47kDa 33 endomembrane system|membrane|perinuclear region of cytoplasm ovary(1) 1 TCAGAGGCAGAAGAGGCCTGG 0.607 24 47 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 905474 905474 + RNA SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:905474G>A uc010ewg.2 - 1 c.109C>T uc010ewh.1_Nonsense_Mutation_p.Q158* Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520. CACTGGGTCTGGTGTTTCATT 0.612 72 141 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 905558 905558 + RNA SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:905558G>A uc010ewg.2 - 1 c.25C>T uc010ewh.1_Nonsense_Mutation_p.Q130* Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520. CACTGGGTCTGGTGTTTCATT 0.597 6 209 --- --- --- --- PASS KCNF1 3754 broad.mit.edu 37 2 11053295 11053295 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:11053295T>A uc002rax.2 + 1 1233 c.743T>A c.(742-744)CTG>CAG p.L248Q NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 248 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) CCCAACAAGCTGCACTTCGCG 0.617 24 59 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21252821 21252821 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:21252821C>T uc002red.2 - 11 1547 c.1419G>A c.(1417-1419)CAG>CAA p.Q473Q NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 473 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CATCTTGAATCTGTTCCATCA 0.418 25 124 --- --- --- --- PASS ATAD2B 54454 broad.mit.edu 37 2 24118806 24118806 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:24118806T>A uc002rek.3 - 2 545 c.251A>T c.(250-252)CAC>CTC p.H84L ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.H84L NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 84 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAGATACGTGGCTATCACT 0.343 29 39 --- --- --- --- PASS ZNF513 130557 broad.mit.edu 37 2 27600640 27600640 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:27600640G>T uc002rkk.2 - 4 1598 c.1398C>A c.(1396-1398)CAC>CAA p.H466Q ZNF513_uc002rkj.2_Missense_Mutation_p.H404Q NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 466 C2H2-type 7. regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCGCCTGTGTGCCGCAGCA 0.587 68 194 --- --- --- --- PASS PLB1 151056 broad.mit.edu 37 2 28766132 28766132 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:28766132G>T uc002rmb.1 + 14 933 c.933G>T c.(931-933)AGG>AGT p.R311S PLB1_uc010ezj.1_Missense_Mutation_p.R322S NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 311 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) TCTGGAATAGGATGGTGAGTA 0.627 6 16 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32703790 32703790 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:32703790C>G uc010ezu.2 + 36 7290 c.7156C>G c.(7156-7158)CTT>GTT p.L2386V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2386 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) ACTGCTGTTACTTTTGGTTGG 0.433 29 132 --- --- --- --- PASS RPIA 22934 broad.mit.edu 37 2 88991249 88991249 + Nonsense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:88991249C>G uc002ste.2 + 1 74 c.33C>G c.(31-33)TAC>TAG p.Y11* NM_144563 NP_653164 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 11 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity ovary(1) 1 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) GCACCCTCTACGGGCGGGTCT 0.572 17 33 --- --- --- --- PASS FAM123C 205147 broad.mit.edu 37 2 131520797 131520797 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:131520797C>T uc002trw.2 + 2 1342 c.1152C>T c.(1150-1152)GAC>GAT p.D384D FAM123C_uc010fmv.2_Silent_p.D384D|FAM123C_uc010fms.1_Silent_p.D384D|FAM123C_uc010fmt.1_Silent_p.D384D|FAM123C_uc010fmu.1_Silent_p.D384D NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 384 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CCACAAGTGACGAGGGCTACT 0.627 33 47 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133531461 133531461 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:133531461C>G uc002ttp.2 - 16 5430 c.5056G>C c.(5056-5058)GAG>CAG p.E1686Q NCKAP5_uc002ttq.2_Missense_Mutation_p.E367Q NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1686 protein binding 0 TCATTTGCCTCTTTTACCTGC 0.328 11 181 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141274521 141274521 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:141274521A>G uc002tvj.1 - 50 9058 c.8086T>C c.(8086-8088)TTG>CTG p.L2696L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2696 Extracellular (Potential).|LDL-receptor class A 15. 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) CAGGTATTCAAAATGCATCTT 0.333 TSP Lung(27;0.18) 3 48 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141533667 141533667 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:141533667C>A uc002tvj.1 - 33 6472 c.5500G>T c.(5500-5502)GGC>TGC p.G1834C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1834 Extracellular (Potential).|EGF-like 4. 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) TGTGATTTACCTTGCTGTGCT 0.383 TSP Lung(27;0.18) 22 49 --- --- --- --- PASS DCAF17 80067 broad.mit.edu 37 2 172305295 172305295 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:172305295G>T uc002ugx.2 + 4 655 c.426G>T c.(424-426)GAG>GAT p.E142D DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.E142D|DCAF17_uc010zdr.1_RNA NM_025000 NP_079276 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 isoform 1 142 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus 0 AAATCCTTGAGAAAATATATC 0.318 6 131 --- --- --- --- PASS EVX2 344191 broad.mit.edu 37 2 176948394 176948394 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:176948394G>T uc010zeu.1 - 1 297 c.111C>A c.(109-111)CTC>CTA p.L37L NM_001080458 NP_001073927 Q03828 EVX2_HUMAN even-skipped homeobox 2 37 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCAGGGCCTCGAGCACAGCAT 0.597 43 74 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593626 179593626 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:179593626A>G uc010zfg.1 - 62 15631 c.15407T>C c.(15406-15408)TTA>TCA p.L5136S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1797S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6063 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) ACCTTGTACTAAAAGGAAAGC 0.393 15 36 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179611814 179611814 + Nonsense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:179611814G>A uc002unb.2 - 46 15537 c.15313C>T c.(15313-15315)CGA>TGA p.R5105* TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGAATATCGCTCTAGAGTC 0.493 37 88 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179635302 179635302 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:179635302C>G uc010zfg.1 - 35 8441 c.8217G>C c.(8215-8217)CAG>CAC p.Q2739H TTN_uc010zfh.1_Missense_Mutation_p.Q2693H|TTN_uc010zfi.1_Missense_Mutation_p.Q2693H|TTN_uc010zfj.1_Missense_Mutation_p.Q2693H|TTN_uc002unb.2_Missense_Mutation_p.Q2739H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2739 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) TTTTGATCCACTGGACACCTT 0.413 39 90 --- --- --- --- PASS PDE1A 5136 broad.mit.edu 37 2 183066211 183066211 + Silent SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:183066211C>G uc002uos.2 - 11 1212 c.1128G>C c.(1126-1128)CTG>CTC p.L376L PDE1A_uc010zfp.1_Silent_p.L272L|PDE1A_uc002uoq.1_Silent_p.L376L|PDE1A_uc010zfq.1_Silent_p.L376L|PDE1A_uc002uor.2_Silent_p.L360L|PDE1A_uc002uou.2_Silent_p.L342L NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 376 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) ACCGATAATGCAGCTTCCAGG 0.473 48 85 --- --- --- --- PASS GLS 2744 broad.mit.edu 37 2 191792155 191792155 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:191792155A>T uc002usf.2 + 12 1636 c.1372A>T c.(1372-1374)AGT>TGT p.S458C GLS_uc002use.2_Missense_Mutation_p.S458C|GLS_uc002usg.1_Missense_Mutation_p.S119C|GLS_uc002ush.2_Missense_Mutation_p.S119C|GLS_uc010zgi.1_Missense_Mutation_p.S29C|GLS_uc010zgj.1_5'Flank NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 458 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AAATACATTGAGTTTGATGCA 0.428 28 72 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217293404 217293404 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:217293404G>C uc002vgc.3 + 7 1563 c.1233G>C c.(1231-1233)AAG>AAC p.K411N SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.K411N|SMARCAL1_uc010fvg.2_Missense_Mutation_p.K411N NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 411 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AGCTCAAGAAGACATCTCTCA 0.537 Schimke_Immuno-Osseous_Dysplasia 41 107 --- --- --- --- PASS SP100 6672 broad.mit.edu 37 2 231326018 231326018 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:231326018T>C uc002vqt.2 + 9 1003 c.862T>C c.(862-864)TCC>CCC p.S288P SP100_uc002vqs.2_Missense_Mutation_p.S288P|SP100_uc002vqu.1_Missense_Mutation_p.S288P|SP100_uc010zmb.1_Missense_Mutation_p.S288P|SP100_uc002vqq.1_Missense_Mutation_p.S288P|SP100_uc002vqr.1_Missense_Mutation_p.S263P|SP100_uc010zmc.1_Missense_Mutation_p.S263P|SP100_uc002vqv.1_Missense_Mutation_p.S252P NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 288 PxVxL motif. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCAAATTAATTCCTGTTCTGT 0.403 10 47 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234372821 234372821 + Silent SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr2:234372821G>C uc002vui.1 + 27 3210 c.3198G>C c.(3196-3198)CCG>CCC p.P1066P DGKD_uc002vuj.1_Silent_p.P1022P|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 1066 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) AGCTGGATCCGCCTCAGAAGG 0.677 14 45 --- --- --- --- PASS FBLN2 2199 broad.mit.edu 37 3 13671366 13671366 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:13671366G>A uc011avb.1 + 13 2873 c.2748G>A c.(2746-2748)ACG>ACA p.T916T FBLN2_uc011auz.1_Silent_p.T942T|FBLN2_uc011ava.1_Silent_p.T963T|FBLN2_uc011avc.1_Silent_p.T963T NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 916 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GCCAGCACACGTGTGAGAACA 0.647 6 6 --- --- --- --- PASS FBXW12 285231 broad.mit.edu 37 3 48423471 48423471 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:48423471C>A uc003csr.2 + 10 1377 c.1191C>A c.(1189-1191)TCC>TCA p.S397S FBXW12_uc010hjv.2_Silent_p.S378S|FBXW12_uc003css.2_Silent_p.S327S|FBXW12_uc010hjw.2_Silent_p.S296S NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 397 WD 5. 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TCACCACATCCGAGAACTCTG 0.507 4 96 --- --- --- --- PASS COL7A1 1294 broad.mit.edu 37 3 48612666 48612666 + Nonsense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:48612666C>A uc003ctz.2 - 74 6191 c.6190G>T c.(6190-6192)GGA>TGA p.G2064* NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2064 Triple-helical region. G -> R (in DDEB). 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) CCTTTCTCTCCCCGTTCTCCC 0.632 37 54 --- --- --- --- PASS P4HTM 54681 broad.mit.edu 37 3 49044195 49044195 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:49044195A>G uc003cvg.2 + 9 1713 c.1364A>G c.(1363-1365)AAC>AGC p.N455S P4HTM_uc003cvh.2_Missense_Mutation_p.N516S|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 455 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) TGGATTGCCAACAACTGGATT 0.632 23 32 --- --- --- --- PASS GNAT1 2779 broad.mit.edu 37 3 50231296 50231296 + Missense_Mutation SNP T G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:50231296T>G uc003cym.2 + 5 676 c.560T>G c.(559-561)TTC>TGC p.F187C GNAT1_uc003cyl.2_Missense_Mutation_p.F187C NM_144499 NP_653082 P11488 GNAT1_HUMAN rod-type transducin alpha subunit 187 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CAGTTCTCCTTCAAGGATCTC 0.652 28 39 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113377404 113377404 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:113377404C>G uc003eam.2 - 7 3536 c.3125G>C c.(3124-3126)AGT>ACT p.S1042T KIAA2018_uc003eal.2_Missense_Mutation_p.S986T NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1042 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TAAATTCACACTTGAATCAAC 0.358 3 104 --- --- --- --- PASS ADPRH 141 broad.mit.edu 37 3 119301046 119301046 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:119301046G>T uc003ecs.2 + 3 328 c.30G>T c.(28-30)CTG>CTT p.L10L ADPRH_uc010hqv.2_Silent_p.L10L|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Silent_p.L10L NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 10 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) CTATGGTGCTGAGTGCAGCTG 0.547 17 59 --- --- --- --- PASS ADPRH 141 broad.mit.edu 37 3 119301047 119301047 + Missense_Mutation SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:119301047A>C uc003ecs.2 + 3 329 c.31A>C c.(31-33)AGT>CGT p.S11R ADPRH_uc010hqv.2_Missense_Mutation_p.S11R|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Missense_Mutation_p.S11R NM_001125 NP_001116 P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 11 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding ovary(1) 1 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) TATGGTGCTGAGTGCAGCTGG 0.542 16 57 --- --- --- --- PASS UROC1 131669 broad.mit.edu 37 3 126224833 126224833 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:126224833A>G uc003eiz.1 - 7 656 c.624T>C c.(622-624)GGT>GGC p.G208G UROC1_uc010hsi.1_Silent_p.G208G NM_144639 NP_653240 Q96N76 HUTU_HUMAN urocanase domain containing 1 isoform 1 208 histidine catabolic process cytosol urocanate hydratase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.17) AGCAGTAGCTACCTGCTGTCA 0.637 3 64 --- --- --- --- PASS PLSCR2 57047 broad.mit.edu 37 3 146173087 146173087 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:146173087A>T uc003evv.1 - 5 593 c.260T>A c.(259-261)GTC>GAC p.V87D PLSCR2_uc003evw.1_Missense_Mutation_p.V156D NM_020359 NP_065092 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 87 Cytoplasmic (By similarity). phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity 0 CAGAGTTATGACTTCTCGACC 0.408 45 116 --- --- --- --- PASS GPR149 344758 broad.mit.edu 37 3 154146767 154146767 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:154146767G>C uc003faa.2 - 1 738 c.638C>G c.(637-639)ACT>AGT p.T213S NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 213 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CAATCGGTGAGTGAGTGGGAC 0.592 61 122 --- --- --- --- PASS C3orf33 285315 broad.mit.edu 37 3 155493633 155493633 + Nonsense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:155493633G>C uc003fal.1 - 4 320 c.50C>G c.(49-51)TCA>TGA p.S17* C3orf33_uc003fam.1_Nonsense_Mutation_p.S60* NM_173657 NP_775928 Q96NB5 Q96NB5_HUMAN hypothetical protein LOC285315 17 hydrolase activity, acting on ester bonds|nucleic acid binding 0 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGTAAATTTTGATGTCTATTG 0.284 7 198 --- --- --- --- PASS GFM1 85476 broad.mit.edu 37 3 158371155 158371155 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:158371155C>A uc003fce.2 + 7 1004 c.897C>A c.(895-897)AGC>AGA p.S299R GFM1_uc003fcd.2_Missense_Mutation_p.S299R|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.S230R NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 299 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TTTTGGGAAGCGCCTTGAAGA 0.353 38 73 --- --- --- --- PASS RTP1 132112 broad.mit.edu 37 3 186915549 186915549 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:186915549G>C uc003frg.2 + 1 276 c.246G>C c.(244-246)CAG>CAC p.Q82H NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 82 Cytoplasmic (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) GTTGGAAGCAGTACCTGGAAT 0.572 20 234 --- --- --- --- PASS MFI2 4241 broad.mit.edu 37 3 196754711 196754711 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr3:196754711G>T uc003fxk.3 - 2 233 c.120C>A c.(118-120)AGC>AGA p.S40R MFI2_uc003fxl.3_Missense_Mutation_p.S40R|MFI2_uc011bua.1_Missense_Mutation_p.S40R NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 40 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GGAAGGCCTCGCTCATGTTGC 0.701 3 35 --- --- --- --- PASS NKX3-2 579 broad.mit.edu 37 4 13544131 13544131 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:13544131T>C uc003gmx.2 - 2 564 c.488A>G c.(487-489)GAG>GGG p.E163G NM_001189 NP_001180 P78367 NKX32_HUMAN NK3 homeobox 2 163 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ACCGTCGTCCTCGGTCCTTGG 0.483 3 32 --- --- --- --- PASS PACRGL 133015 broad.mit.edu 37 4 20715163 20715163 + Splice_Site SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:20715163G>T uc010iek.2 + 7 1000 c.609_splice c.e7+1 p.S203_splice PACRGL_uc003gpu.2_Splice_Site|PACRGL_uc003gpz.2_Splice_Site_p.S203_splice|PACRGL_uc011bxm.1_Splice_Site_p.S150_splice|PACRGL_uc003gqa.2_Splice_Site_p.S105_splice|PACRGL_uc003gpx.3_Splice_Site|PACRGL_uc003gpv.2_Splice_Site_p.S203_splice|PACRGL_uc003gpw.2_Splice_Site|PACRGL_uc010iej.1_Splice_Site|PACRGL_uc011bxn.1_Splice_Site_p.S105_splice|PACRGL_uc003gpy.2_Splice_Site_p.S150_splice NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 binding 0 GCTTACAAGCGTAAGTACTGC 0.368 18 44 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65175582 65175582 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:65175582C>G uc003hcv.2 - 6 728 c.619G>C c.(619-621)GTT>CTT p.V207L TECRL_uc003hcw.2_Missense_Mutation_p.V207L NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 207 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CCTGCAGAAACTTTGTGAACA 0.318 57 127 --- --- --- --- PASS SHROOM3 57619 broad.mit.edu 37 4 77676030 77676030 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:77676030G>T uc011cbx.1 + 7 5347 c.4394G>T c.(4393-4395)AGT>ATT p.S1465I SHROOM3_uc003hkg.2_Missense_Mutation_p.S1243I NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1465 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) AGTCTTCCAAGTTTATGCAGC 0.562 6 110 --- --- --- --- PASS GPRIN3 285513 broad.mit.edu 37 4 90169836 90169836 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:90169836A>G uc003hsm.1 - 2 1945 c.1426T>C c.(1426-1428)TGC>CGC p.C476R NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 476 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GCTTGACTGCATGCACTGATA 0.453 8 115 --- --- --- --- PASS HSPA4L 22824 broad.mit.edu 37 4 128725243 128725243 + Splice_Site SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:128725243G>T uc003ifm.2 + 8 1238 c.985_splice c.e8+1 p.N329_splice HSPA4L_uc010iny.1_Splice_Site_p.N288_splice|HSPA4L_uc011cgr.1_Splice_Site_p.N296_splice NM_014278 NP_055093 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GAACAAGCTAGTAAGTGGAAA 0.328 18 72 --- --- --- --- PASS KIAA0922 23240 broad.mit.edu 37 4 154523864 154523864 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:154523864C>T uc003inm.3 + 23 2673 c.2621C>T c.(2620-2622)ACG>ATG p.T874M KIAA0922_uc010ipp.2_Missense_Mutation_p.T875M|KIAA0922_uc010ipq.2_Missense_Mutation_p.T643M NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 874 Helical; (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) TGGAGGCTCACGGTCTTCTTT 0.512 13 207 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155155906 155155906 + Missense_Mutation SNP T G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:155155906T>G uc003inw.2 - 25 8533 c.8533A>C c.(8533-8535)AAC>CAC p.N2845H NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2845 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TGCCCCAGGTTTACTGCCGGC 0.502 69 131 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393737 164393737 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:164393737C>A uc003iqp.3 - 1 1311 c.1150G>T c.(1150-1152)GGT>TGT p.G384C NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 384 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) ATGGTTCGACCACGTGTAGCA 0.433 19 67 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164394531 164394531 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr4:164394531A>G uc003iqp.3 - 1 517 c.356T>C c.(355-357)GTT>GCT p.V119A NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 119 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGCCACGTCAACAAACGGCAA 0.542 18 47 --- --- --- --- PASS GHR 2690 broad.mit.edu 37 5 42695031 42695031 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:42695031A>G uc003jmt.2 + 5 322 c.279A>G c.(277-279)GAA>GAG p.E93E GHR_uc011cpq.1_5'UTR NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 93 Extracellular (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ACactcaagaatggactcaag 0.303 10 23 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50137846 50137846 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:50137846G>A uc003jon.3 + 27 2691 c.2509G>A c.(2509-2511)GGA>AGA p.G837R PARP8_uc011cpz.1_Missense_Mutation_p.G729R|PARP8_uc003joo.2_Missense_Mutation_p.G837R|PARP8_uc003jop.2_Missense_Mutation_p.G795R NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 837 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TACACAAGAAGGAGGCATTCA 0.358 19 79 --- --- --- --- PASS PARP8 79668 broad.mit.edu 37 5 50137849 50137849 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:50137849G>C uc003jon.3 + 27 2694 c.2512G>C c.(2512-2514)GGC>CGC p.G838R PARP8_uc011cpz.1_Missense_Mutation_p.G730R|PARP8_uc003joo.2_Missense_Mutation_p.G838R|PARP8_uc003jop.2_Missense_Mutation_p.G796R NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 838 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) ACAAGAAGGAGGCATTCACAA 0.363 19 74 --- --- --- --- PASS TMEM161B 153396 broad.mit.edu 37 5 87493533 87493533 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:87493533G>A uc003kjc.2 - 11 1264 c.1139C>T c.(1138-1140)GCG>GTG p.A380V TMEM161B_uc011cty.1_Missense_Mutation_p.A369V|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A171V NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 380 Helical; (Potential). integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) TACCAGAGGCGCCACATACTG 0.418 9 115 --- --- --- --- PASS PAM 5066 broad.mit.edu 37 5 102295636 102295636 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:102295636G>T uc003knw.2 + 12 1336 c.963G>T c.(961-963)AAG>AAT p.K321N PAM_uc003kns.2_Missense_Mutation_p.K321N|PAM_uc003knt.2_Missense_Mutation_p.K321N|PAM_uc003knu.2_Missense_Mutation_p.K321N|PAM_uc003knv.2_Missense_Mutation_p.K321N|PAM_uc011cuz.1_Missense_Mutation_p.K224N|PAM_uc003knx.1_Missense_Mutation_p.K13N NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 321 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) TGGAAGCCAAGCATGCAGTTT 0.393 22 24 --- --- --- --- PASS PRR16 51334 broad.mit.edu 37 5 119800226 119800226 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:119800226C>A uc003ksq.2 + 1 208 c.45C>A c.(43-45)GCC>GCA p.A15A PRR16_uc003ksp.2_5'UTR NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 15 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CCTGTCCAGCCGAGGGACCGC 0.612 4 8 --- --- --- --- PASS DPYSL3 1809 broad.mit.edu 37 5 146777324 146777324 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:146777324C>T uc003lon.1 - 12 1476 c.1366G>A c.(1366-1368)GAT>AAT p.D456N DPYSL3_uc003loo.2_Missense_Mutation_p.D570N NM_001387 NP_001378 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 456 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTTGCCATCTTCCAGCATG 0.577 58 24 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156936311 156936311 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:156936311G>T uc003lwz.2 - 9 967 c.903C>A c.(901-903)ATC>ATA p.I301I ADAM19_uc003lww.1_Silent_p.I34I|ADAM19_uc011ddr.1_Silent_p.I232I NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 301 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTATTTACGTGATTAATTGGG 0.493 21 18 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176011425 176011425 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr5:176011425G>A uc003mem.1 + 19 2209 c.2143G>A c.(2143-2145)GTG>ATG p.V715M CDHR2_uc003men.1_Missense_Mutation_p.V715M NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 715 Cadherin 7.|Extracellular (Potential). homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GCTAGTGGGCGTGGTGAAGGC 0.612 66 60 --- --- --- --- PASS SERPINB6 5269 broad.mit.edu 37 6 2954829 2954829 + Nonsense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:2954829C>A uc003muk.2 - 3 2422 c.427G>T c.(427-429)GAA>TAA p.E143* SERPINB6_uc003mui.2_Nonsense_Mutation_p.E26*|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003mum.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003mun.2_Nonsense_Mutation_p.E143*|SERPINB6_uc003muo.2_Nonsense_Mutation_p.E143* NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 143 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TTTTCACCTTCTGTCTTTTCA 0.373 7 72 --- --- --- --- PASS HIST1H3E 8353 broad.mit.edu 37 6 26225532 26225532 + Silent SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:26225532C>G uc003nhb.2 + 2 510 c.150C>G c.(148-150)CGC>CGG p.R50R HIST1H3E_uc003nhc.3_Silent_p.R50R NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 50 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351) TGGCTCTGCGCGAGATCCGTC 0.632 6 82 --- --- --- --- PASS HSP90AB1 3326 broad.mit.edu 37 6 44216403 44216403 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:44216403G>C uc003oxa.1 + 2 121 c.37G>C c.(37-39)GAG>CAG p.E13Q HSP90AB1_uc011dvr.1_Missense_Mutation_p.E13Q|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E13Q|HSP90AB1_uc011dvs.1_5'UTR|HSP90AB1_uc003oxc.1_5'Flank NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 13 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAGGAGGTGGAGACTTTTGC 0.408 7 149 --- --- --- --- PASS OPN5 221391 broad.mit.edu 37 6 47763175 47763175 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:47763175C>A uc003ozc.2 + 4 637 c.632C>A c.(631-633)CCA>CAA p.P211Q OPN5_uc003ozd.2_Missense_Mutation_p.P46Q NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 211 Helical; Name=5; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 CTCTTGCTCCCAACGGCTGTG 0.542 42 108 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72967967 72967967 + Silent SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:72967967A>T uc003pga.2 + 17 2987 c.2910A>T c.(2908-2910)CCA>CCT p.P970P RIMS1_uc011dyb.1_Silent_p.P595P|RIMS1_uc003pgc.2_Silent_p.P596P|RIMS1_uc010kaq.2_Silent_p.P443P|RIMS1_uc011dyc.1_Silent_p.P444P|RIMS1_uc010kar.2_Silent_p.P363P|RIMS1_uc011dyd.1_Silent_p.P429P|RIMS1_uc003pgf.2_Silent_p.P186P|RIMS1_uc003pgg.2_Silent_p.P187P|RIMS1_uc003pgi.2_Silent_p.P186P|RIMS1_uc003pgh.2_Silent_p.P186P|RIMS1_uc003pgd.2_Silent_p.P187P|RIMS1_uc003pge.2_Silent_p.P187P|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Silent_p.P596P|RIMS1_uc010kas.1_Silent_p.P429P NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 970 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CACGTTTACCAAATGTGCCAT 0.433 17 47 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129609117 129609117 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:129609117T>C uc003qbn.2 + 19 2768 c.2663T>C c.(2662-2664)ATA>ACA p.I888T LAMA2_uc003qbo.2_Missense_Mutation_p.I888T NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 888 Laminin EGF-like 8. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCCTGTCTGATATGTAAACCA 0.502 84 209 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129833550 129833550 + Missense_Mutation SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:129833550A>C uc003qbn.2 + 62 9005 c.8900A>C c.(8899-8901)GAA>GCA p.E2967A LAMA2_uc003qbo.2_Missense_Mutation_p.E2963A|uc003qbq.2_Intron NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2967 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTAGAATTTGAATTCCGCACA 0.368 5 91 --- --- --- --- PASS SASH1 23328 broad.mit.edu 37 6 148855979 148855979 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:148855979G>A uc003qme.1 + 16 2512 c.2037G>A c.(2035-2037)AGG>AGA p.R679R SASH1_uc011eeb.1_Silent_p.R440R|SASH1_uc003qmf.1_Silent_p.R89R NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 679 SAM 1. 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) TAAATATCAGGGACCCGGAAC 0.483 7 75 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154360850 154360850 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:154360850C>G uc003qpr.2 + 1 408 c.171C>G c.(169-171)AGC>AGG p.S57R OPRM1_uc011efb.1_Missense_Mutation_p.S105R|OPRM1_uc011efc.1_Intron|OPRM1_uc011efd.1_Intron|OPRM1_uc011efe.1_Missense_Mutation_p.S150R|OPRM1_uc003qpn.2_Missense_Mutation_p.S57R|OPRM1_uc003qpo.1_Missense_Mutation_p.S57R|OPRM1_uc011eff.1_Missense_Mutation_p.S57R|OPRM1_uc011efg.1_Missense_Mutation_p.S57R|OPRM1_uc011efh.1_Missense_Mutation_p.S57R|OPRM1_uc003qpq.1_Missense_Mutation_p.S57R|OPRM1_uc003qpt.1_Missense_Mutation_p.S57R|OPRM1_uc011efi.1_Missense_Mutation_p.S57R|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 57 Extracellular (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) GGAGAGACAGCCTGTGCCCTC 0.637 31 30 --- --- --- --- PASS SLC22A1 6580 broad.mit.edu 37 6 160553345 160553345 + Nonsense_Mutation SNP C G G rs151091788 byFrequency TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:160553345C>G uc003qtc.2 + 3 702 c.597C>G c.(595-597)TAC>TAG p.Y199* SLC22A1_uc003qtd.2_Nonsense_Mutation_p.Y199* NM_003057 NP_003048 O15245 S22A1_HUMAN solute carrier family 22 member 1 isoform a 199 Extracellular (Potential). basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding 0 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CGCCCAACTACATGTCCATGC 0.577 5 118 --- --- --- --- PASS PACRG 135138 broad.mit.edu 37 6 163483206 163483206 + Missense_Mutation SNP C T T rs143858923 TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:163483206C>T uc003qua.2 + 4 540 c.316C>T c.(316-318)CAT>TAT p.H106Y PACRG_uc003qub.2_Missense_Mutation_p.H106Y|PACRG_uc003quc.2_Missense_Mutation_p.H106Y NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 106 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GCTGGATTACCATCATTATCT 0.453 26 64 --- --- --- --- PASS WDR27 253769 broad.mit.edu 37 6 170068228 170068228 + Missense_Mutation SNP T G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr6:170068228T>G uc003qwx.2 - 5 1030 c.510A>C c.(508-510)AAA>AAC p.K170N WDR27_uc010kkw.1_Missense_Mutation_p.K170N|WDR27_uc003qwy.2_Intron|WDR27_uc011egw.1_Intron A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) GTGGTGGGACTTTGTGGCGGT 0.507 32 43 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 3991545 3991545 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:3991545C>G uc003smx.2 + 7 1282 c.1143C>G c.(1141-1143)TTC>TTG p.F381L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 381 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCTTTCTTTTCATCATAGGTA 0.577 27 42 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57200012 57200012 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:57200012G>T uc010kzo.2 - 2 291 c.20C>A c.(19-21)CCC>CAC p.P7H NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) GCTTCCAGGGGGTCCTGGTCT 0.557 21 59 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92146842 92146842 + Silent SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:92146842A>C uc003uly.2 - 5 1083 c.987T>G c.(985-987)ACT>ACG p.T329T PEX1_uc011khr.1_Silent_p.T121T|PEX1_uc010ley.2_Silent_p.T329T|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_RNA NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 329 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) CATATGTCACAGTAAAGCTGG 0.378 10 59 --- --- --- --- PASS GAL3ST4 79690 broad.mit.edu 37 7 99757893 99757893 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:99757893G>A uc003utt.2 - 3 2136 c.1119C>T c.(1117-1119)TTC>TTT p.F373F C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Silent_p.F373F|GAL3ST4_uc010lgq.2_Silent_p.F311F NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 373 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GACTGCGGTTGAAGTGGACAT 0.627 5 131 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100696357 100696357 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:100696357G>T uc003uxp.1 + 10 13247 c.13194G>T c.(13192-13194)GGG>GGT p.G4398G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4398 Helical; (Potential). 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) TGGGGGCAGGGGTCGTGCTGA 0.597 10 55 --- --- --- --- PASS ORC5L 5001 broad.mit.edu 37 7 103824482 103824482 + Splice_Site SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:103824482C>A uc003vcb.2 - 8 845 c.734_splice c.e8-1 p.A245_splice ORC5L_uc011klp.1_Splice_Site_p.A113_splice|ORC5L_uc003vcc.2_Splice_Site_p.A245_splice NM_002553 NP_002544 O43913 ORC5_HUMAN origin recognition complex subunit 5 isoform 1 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding 0 CGTTCACTTGCTACCCCAAAG 0.318 5 108 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149515170 149515170 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:149515170C>T uc010lpk.2 + 81 11560 c.11560C>T c.(11560-11562)CCC>TCC p.P3854S NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3854 TSP type-1 16. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCCGTGGGCCCCGCCAGGA 0.642 9 12 --- --- --- --- PASS ATG9B 285973 broad.mit.edu 37 7 150720201 150720201 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:150720201C>G uc011kvc.1 - 4 828 c.752G>C c.(751-753)AGA>ACA p.R251T ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 251 Lumenal (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGCCCAGGTCTGGTATGGTT 0.527 46 287 --- --- --- --- PASS CNPY1 285888 broad.mit.edu 37 7 155301727 155301727 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr7:155301727G>A uc003wmc.1 - 2 151 c.6C>T c.(4-6)AAC>AAT p.N2N NM_001103176 NP_001096646 Q3B7I2 CNPY1_HUMAN canopy 1 homolog 2 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) GCTTGTAGTCGTTCATTCGCT 0.438 50 66 --- --- --- --- PASS SGK223 157285 broad.mit.edu 37 8 8234654 8234654 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:8234654G>A uc003wsh.3 - 2 1265 c.1265C>T c.(1264-1266)CCG>CTG p.P422L NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 422 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGAAGGCACCGGAGCTGCCTT 0.627 3 61 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321350 52321350 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:52321350G>A uc003xqu.3 - 17 2935 c.2834C>T c.(2833-2835)GCG>GTG p.A945V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 945 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTCCTGTCGCGCGCACTCGGT 0.652 5 22 --- --- --- --- PASS NSMAF 8439 broad.mit.edu 37 8 59502566 59502566 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:59502566A>G uc003xtt.2 - 25 2301 c.2087T>C c.(2086-2088)GTC>GCC p.V696A NSMAF_uc011lee.1_Missense_Mutation_p.V727A NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 696 WD 2. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) AGATACATACACATTATTATC 0.428 15 31 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69069635 69069635 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:69069635C>T uc003xxv.1 + 35 4337 c.4310C>T c.(4309-4311)TCA>TTA p.S1437L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1437 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 AATGCAGCCTCACTGGAAAAG 0.343 11 38 --- --- --- --- PASS EYA1 2138 broad.mit.edu 37 8 72184094 72184094 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:72184094C>G uc003xys.3 - 9 1152 c.865G>C c.(865-867)GAT>CAT p.D289H EYA1_uc003xyr.3_Missense_Mutation_p.D284H|EYA1_uc003xyt.3_Missense_Mutation_p.D256H|EYA1_uc010lzf.2_Missense_Mutation_p.D216H|EYA1_uc003xyu.2_Missense_Mutation_p.D289H|EYA1_uc011lfe.1_Missense_Mutation_p.D283H|EYA1_uc003xyv.2_Missense_Mutation_p.D167H NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 289 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GAATCTGAATCTTTAATGGGT 0.458 14 331 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72938268 72938268 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:72938268C>G uc003xza.2 - 25 3153 c.2978G>C c.(2977-2979)TGG>TCG p.W993S uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 993 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GCGTAGAAACCAAAGTGGCAG 0.363 51 103 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77764838 77764838 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:77764838C>A uc003yav.2 + 10 5933 c.5546C>A c.(5545-5547)TCC>TAC p.S1849Y ZFHX4_uc003yau.1_Missense_Mutation_p.S1894Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1849Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1849 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTGGAACCATCCATCCCACCA 0.418 HNSCC(33;0.089) 18 11 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765435 77765435 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:77765435C>A uc003yav.2 + 10 6530 c.6143C>A c.(6142-6144)CCC>CAC p.P2048H ZFHX4_uc003yau.1_Missense_Mutation_p.P2093H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2048H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2048 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCGCTTCCTCCCCAGCTTGCC 0.507 HNSCC(33;0.089) 4 1 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765936 77765936 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:77765936C>A uc003yav.2 + 10 7031 c.6644C>A c.(6643-6645)TCC>TAC p.S2215Y ZFHX4_uc003yau.1_Missense_Mutation_p.S2260Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2215Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2215 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAACAACTCTCCACTGTTCTC 0.408 HNSCC(33;0.089) 11 13 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765937 77765937 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:77765937C>A uc003yav.2 + 10 7032 c.6645C>A c.(6643-6645)TCC>TCA p.S2215S ZFHX4_uc003yau.1_Silent_p.S2260S|ZFHX4_uc003yaw.1_Silent_p.S2215S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2215 Homeobox 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AACAACTCTCCACTGTTCTCA 0.408 HNSCC(33;0.089) 11 13 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110437406 110437406 + Silent SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:110437406A>T uc003yne.2 + 24 2894 c.2790A>T c.(2788-2790)GCA>GCT p.A930A NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 930 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) TTCAAGCTGCATCTCCACCTC 0.348 HNSCC(38;0.096) 3 39 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144891120 144891120 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:144891120G>A uc003yzp.1 - 15 1781 c.1774C>T c.(1774-1776)CCC>TCC p.P592S SCRIB_uc003yzo.1_Missense_Mutation_p.P592S NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 592 Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 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;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGGTCCAGGGGGCCTCAGGC 0.647 59 85 --- --- --- --- PASS EXOSC4 54512 broad.mit.edu 37 8 145135352 145135352 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:145135352A>G uc003zau.2 + 3 696 c.586A>G c.(586-588)ATT>GTT p.I196V GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 196 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCAGGACAGATTGCGCTGCT 0.667 27 123 --- --- --- --- PASS AGTPBP1 23287 broad.mit.edu 37 9 88292479 88292479 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:88292479C>T uc011ltd.1 - 5 341 c.308G>A c.(307-309)AGT>AAT p.S103N AGTPBP1_uc011ltc.1_Missense_Mutation_p.S45N|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S103N|AGTPBP1_uc011lte.1_Missense_Mutation_p.S155N NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 103 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GACTAAGAAACTCACTCTTCG 0.279 31 68 --- --- --- --- PASS FAM120A 23196 broad.mit.edu 37 9 96326821 96326821 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:96326821A>G uc004atw.2 + 18 3381 c.3356A>G c.(3355-3357)TAA>TGA p.*1119* FAM120A_uc004aty.2_Silent_p.*900*|FAM120A_uc004atz.2_Silent_p.*767*|FAM120A_uc010mrg.2_Silent_p.*386*|FAM120A_uc004aua.1_RNA NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 1119 cytoplasm|plasma membrane RNA binding 0 AAAGAAGAGTAAACTTATTTT 0.408 41 60 --- --- --- --- PASS FANCC 2176 broad.mit.edu 37 9 97912344 97912344 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:97912344G>C uc004avh.2 - 7 809 c.547C>G c.(547-549)CTG>GTG p.L183V FANCC_uc004avi.3_Missense_Mutation_p.L183V|FANCC_uc010mrm.1_RNA|FANCC_uc011lul.1_RNA NM_000136 NP_000127 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 183 protein complex assembly cytosol|nucleoplasm protein binding kidney(1) 1 Acute lymphoblastic leukemia(62;0.138) ACTCGTGACAGGGACGCCACT 0.463 D|Mis|N|F|S AML|leukemia Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 17 65 --- --- --- --- PASS ZNF782 158431 broad.mit.edu 37 9 99581208 99581208 + Missense_Mutation SNP T C C rs145150698 byFrequency TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:99581208T>C uc004awp.1 - 6 1378 c.1097A>G c.(1096-1098)TAT>TGT p.Y366C ZNF782_uc011lup.1_Missense_Mutation_p.Y234C NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 366 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ATTATACTCATAGGGTTTTGC 0.418 11 214 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104433328 104433328 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:104433328T>C uc004bbp.1 - 3 1967 c.1366A>G c.(1366-1368)ATC>GTC p.I456V GRIN3A_uc004bbq.1_Missense_Mutation_p.I456V NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 456 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GAGCTGACGATGGTGGAACCT 0.483 65 170 --- --- --- --- PASS SUSD1 64420 broad.mit.edu 37 9 114886687 114886687 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:114886687G>A uc004bfu.2 - 6 777 c.736C>T c.(736-738)CGG>TGG p.R246W SUSD1_uc010mui.2_Missense_Mutation_p.R246W|SUSD1_uc010muj.2_Missense_Mutation_p.R246W NM_022486 NP_071931 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 precursor 246 Sushi 2.|Extracellular (Potential). integral to membrane calcium ion binding 0 ATGGCGTGCCGCATTTCTGGA 0.507 45 71 --- --- --- --- PASS PHF19 26147 broad.mit.edu 37 9 123632136 123632136 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:123632136G>A uc004bks.1 - 5 705 c.452C>T c.(451-453)GCA>GTA p.A151V PHF19_uc011lyf.1_5'Flank|PHF19_uc004bkr.2_5'Flank|PHF19_uc004bkt.2_Missense_Mutation_p.A151V|PHF19_uc010mvk.2_3'UTR NM_015651 NP_056466 Q5T6S3 PHF19_HUMAN PHD finger protein 19 isoform a 151 PHD-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|breast(1) 2 CACAGCCAGTGCGAAGATGCA 0.632 4 31 --- --- --- --- PASS KCNT1 57582 broad.mit.edu 37 9 138683697 138683697 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr9:138683697C>A uc011mdq.1 + 30 3631 c.3557C>A c.(3556-3558)CCC>CAC p.P1186H KCNT1_uc011mdr.1_Missense_Mutation_p.P1034H|KCNT1_uc010nbf.2_Missense_Mutation_p.P1162H NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 1186 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) AACCCTCCGCCCGACACGAGG 0.642 19 68 --- --- --- --- PASS FBXO18 84893 broad.mit.edu 37 10 5948139 5948139 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:5948139C>T uc001iis.2 + 3 392 c.297C>T c.(295-297)AGC>AGT p.S99S FBXO18_uc001iir.2_Silent_p.S25S|FBXO18_uc009xig.2_Silent_p.S25S|FBXO18_uc001iit.2_Silent_p.S150S NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 99 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 CTGCAGAGAGCAGCTGTGCAC 0.597 9 64 --- --- --- --- PASS C10orf140 387640 broad.mit.edu 37 10 21805147 21805147 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:21805147C>T uc009xkd.2 - 4 3858 c.1605G>A c.(1603-1605)CCG>CCA p.P535P uc001iqp.1_RNA NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 454 nucleus nucleotide binding ovary(1) 1 CCAGGCTGGCCGGGCAGTACA 0.547 21 48 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702399 27702399 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:27702399G>T uc001itu.2 - 1 899 c.781C>A c.(781-783)CTC>ATC p.L261I NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 261 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GGCACGCAGAGCGCCCTGTAC 0.632 17 24 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30315900 30315900 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:30315900C>T uc001iux.2 - 2 3236 c.3177G>A c.(3175-3177)CAG>CAA p.Q1059Q KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.Q921Q|KIAA1462_uc009xle.1_Silent_p.Q1059Q NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1059 ovary(4) 4 CACTGGCACCCTGTTCTTGCC 0.597 12 205 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37508513 37508513 + Silent SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:37508513A>C uc001iza.1 + 34 3804 c.3705A>C c.(3703-3705)ACA>ACC p.T1235T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1291 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AACGTGAAACACAGTGTCAAA 0.363 5 30 --- --- --- --- PASS LZTS2 84445 broad.mit.edu 37 10 102766372 102766372 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:102766372G>C uc001ksj.2 + 5 1526 c.1457G>C c.(1456-1458)CGG>CCG p.R486P LZTS2_uc010qpw.1_Missense_Mutation_p.R486P|LZTS2_uc001ksk.2_Missense_Mutation_p.R486P|LZTS2_uc001ksl.2_Missense_Mutation_p.R486P|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 486 Potential.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).|Sufficient for interaction with CTNNB1. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GCTACGCTGCGGGTCAGTGAG 0.687 5 5 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118396302 118396302 + Missense_Mutation SNP T G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:118396302T>G uc001lcq.2 + 12 969 c.946T>G c.(946-948)TGT>GGT p.C316G PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 315 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity large_intestine(1) 1 all cancers(201;0.015) CTAGAGTAAGTGTTTCCCTTG 0.383 3 10 --- --- --- --- PASS INPP5A 3632 broad.mit.edu 37 10 134579331 134579331 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr10:134579331G>C uc001llp.2 + 12 1206 c.958G>C c.(958-960)GAC>CAC p.D320H INPP5A_uc001llo.1_Missense_Mutation_p.D320H|INPP5A_uc001llq.2_Missense_Mutation_p.D215H NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 320 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GTATGAACTGGACATCTCGTT 0.493 4 89 --- --- --- --- PASS PHRF1 57661 broad.mit.edu 37 11 608509 608509 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:608509G>T uc001lqe.2 + 14 3184 c.3053G>T c.(3052-3054)CGC>CTC p.R1018L PHRF1_uc010qwc.1_Missense_Mutation_p.R1017L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1016L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1014L|PHRF1_uc009ybz.1_Missense_Mutation_p.R808L|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 1018 Arg-rich. RNA polymerase binding|zinc ion binding 0 GGACGGACGCGCTCTGGGACG 0.672 14 43 --- --- --- --- PASS KCNQ1 3784 broad.mit.edu 37 11 2608873 2608873 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:2608873G>T uc001lwn.2 + 9 1310 c.1202G>T c.(1201-1203)CGG>CTG p.R401L KCNQ1_uc009ydp.1_Missense_Mutation_p.R185L|KCNQ1_uc001lwo.2_Missense_Mutation_p.R274L NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 401 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) AAGGCCCCCCGGAGCCACACT 0.642 31 76 --- --- --- --- PASS OR51B5 282763 broad.mit.edu 37 11 5364468 5364468 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:5364468A>G uc001map.1 - 1 287 c.287T>C c.(286-288)TTT>TCT p.F96S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Missense_Mutation_p.F96S NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCTGGGAAAAGCAGGCCGC 0.552 4 53 --- --- --- --- PASS OR51I1 390063 broad.mit.edu 37 11 5462308 5462308 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:5462308A>G uc010qze.1 - 1 437 c.437T>C c.(436-438)ATG>ACG p.M146T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCAGACCCATAGCCAATAT 0.483 35 54 --- --- --- --- PASS OR56B1 387748 broad.mit.edu 37 11 5758258 5758258 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:5758258T>A uc001mbt.1 + 1 512 c.512T>A c.(511-513)CTT>CAT p.L171H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.L171H|OR56B1_uc009yev.1_Missense_Mutation_p.L171H NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) GTGCCTGTGCTTGCAGCACAG 0.473 42 84 --- --- --- --- PASS OR52N4 390072 broad.mit.edu 37 11 5776678 5776678 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:5776678G>A uc001mbu.2 + 1 756 c.708G>A c.(706-708)CGG>CGA p.R236R TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CAGATGCTCGGCAGAAGGCCT 0.502 66 113 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7079556 7079556 + Silent SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:7079556T>C uc001mfb.1 + 8 2831 c.2508T>C c.(2506-2508)TCT>TCC p.S836S NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 836 LRR 4. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGTATCTTTCTTTGGCTCTCA 0.453 49 84 --- --- --- --- PASS SBF2 81846 broad.mit.edu 37 11 9861056 9861056 + Silent SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:9861056T>C uc001mib.2 - 26 3582 c.3444A>G c.(3442-3444)TCA>TCG p.S1148S SBF2_uc001mif.3_Silent_p.S904S|uc001mig.2_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 1148 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCCGGCAGAGTGAATACATCC 0.443 67 130 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17113137 17113137 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:17113137C>A uc001mmq.3 - 30 4775 c.4709G>T c.(4708-4710)CGA>CTA p.R1570L PIK3C2A_uc009ygu.1_Missense_Mutation_p.R173L|PIK3C2A_uc010rcw.1_Missense_Mutation_p.R1190L|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1570 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) AGTACCATTTCGGTAAGAGAT 0.383 3 74 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17153551 17153551 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:17153551G>C uc001mmq.3 - 11 2209 c.2143C>G c.(2143-2145)CAC>GAC p.H715D PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.H335D|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 715 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) TTTCCATTGTGAGACAGTGAA 0.274 22 142 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40136309 40136309 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:40136309T>C uc001mxa.1 - 2 3498 c.1534A>G c.(1534-1536)ATA>GTA p.I512V LRRC4C_uc001mxc.1_Missense_Mutation_p.I508V|LRRC4C_uc001mxd.1_Missense_Mutation_p.I508V|LRRC4C_uc001mxb.1_Missense_Mutation_p.I508V NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 512 regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) CCACTGTTTATATCAGTCACT 0.498 29 67 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55432843 55432843 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:55432843G>A uc001nht.3 + 3 466 c.201G>A c.(199-201)TTG>TTA p.L67L OR4C6_uc010rik.1_Silent_p.L67L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTCCCTTTTGGATGTCATGT 0.448 25 115 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433068 55433068 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:55433068G>A uc001nht.3 + 3 691 c.426G>A c.(424-426)ATG>ATA p.M142I OR4C6_uc010rik.1_Missense_Mutation_p.M142I NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 GCTGCCTAATGGTAGGAGGGG 0.493 43 75 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433069 55433069 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:55433069G>T uc001nht.3 + 3 692 c.427G>T c.(427-429)GTA>TTA p.V143L OR4C6_uc010rik.1_Missense_Mutation_p.V143L NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CTGCCTAATGGTAGGAGGGGC 0.488 42 75 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034971 58034971 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:58034971C>T uc001nmq.1 - 1 762 c.360G>A c.(358-360)CCG>CCA p.P120P NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) GGTACTGCAACGGGTGGCAAA 0.532 9 41 --- --- --- --- PASS TIGD3 220359 broad.mit.edu 37 11 65123817 65123817 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:65123817T>A uc001odo.3 + 2 701 c.538T>A c.(538-540)TTG>ATG p.L180M NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 180 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TGAATTGCCCTTGCTGTATCG 0.602 34 180 --- --- --- --- PASS CNIH2 254263 broad.mit.edu 37 11 66050605 66050605 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:66050605T>C uc001ohi.1 + 4 530 c.298T>C c.(298-300)TAC>CAC p.Y100H CNIH2_uc001ohh.2_Missense_Mutation_p.Y100H|CNIH2_uc009yrb.1_RNA NM_182553 NP_872359 Q6PI25 CNIH2_HUMAN cornichon homolog 2 100 Cytoplasmic (Potential). intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane protein binding 0 CCTCCTCTTCTACCACCTCTG 0.612 OREG0021100 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 97 --- --- --- --- PASS NUDT8 254552 broad.mit.edu 37 11 67396482 67396482 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:67396482C>G uc001omo.1 - 2 254 c.235G>C c.(235-237)GTG>CTG p.V79L NUDT8_uc001omn.2_Missense_Mutation_p.V79L NM_181843 NP_862826 Q8WV74 NUDT8_HUMAN nudix-type motif 8 79 Nudix box.|Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding 0 GCCGTGTGCACCACATCTTGG 0.642 OREG0021134 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 100 --- --- --- --- PASS CLPB 81570 broad.mit.edu 37 11 72091393 72091393 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:72091393G>C uc001osj.2 - 4 628 c.578C>G c.(577-579)CCA>CGA p.P193R CLPB_uc010rqx.1_Missense_Mutation_p.P148R|CLPB_uc010rqy.1_Missense_Mutation_p.P164R|CLPB_uc001osk.2_Missense_Mutation_p.P193R|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.P22R NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 193 ANK 2. cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TCCAAGGTTTGGATCAGCCCC 0.488 5 57 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76893063 76893063 + Nonsense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:76893063G>T uc001oyb.2 + 24 3243 c.2971G>T c.(2971-2973)GAG>TAG p.E991* MYO7A_uc010rsl.1_Nonsense_Mutation_p.E991*|MYO7A_uc010rsm.1_Nonsense_Mutation_p.E980*|MYO7A_uc001oyc.2_Nonsense_Mutation_p.E991*|MYO7A_uc001oyd.2_Nonsense_Mutation_p.E331*|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Nonsense_Mutation_p.E202* NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 991 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CCTGCCTGACGAGGATGAGGA 0.567 19 116 --- --- --- --- PASS DLG2 1740 broad.mit.edu 37 11 83497769 83497769 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:83497769G>C uc001paj.2 - 13 1777 c.1474C>G c.(1474-1476)CAG>GAG p.Q492E DLG2_uc001pai.2_Missense_Mutation_p.Q389E|DLG2_uc010rsy.1_Missense_Mutation_p.Q459E|DLG2_uc010rsz.1_Missense_Mutation_p.Q492E|DLG2_uc010rta.1_Missense_Mutation_p.Q492E|DLG2_uc001pak.2_Missense_Mutation_p.Q597E|DLG2_uc010rtb.1_Missense_Mutation_p.Q459E|DLG2_uc001pal.1_Missense_Mutation_p.Q492E|DLG2_uc001pam.1_Missense_Mutation_p.Q531E NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 492 PDZ 3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTCACTGTCTGTCCAGCCCCC 0.468 10 87 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92616485 92616485 + Missense_Mutation SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:92616485A>C uc001pdj.3 + 23 12880 c.12863A>C c.(12862-12864)AAC>ACC p.N4288T FAT3_uc001pdi.3_Missense_Mutation_p.N728T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4288 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GTGGCCCCCAACCTCCCCGCC 0.657 TCGA Ovarian(4;0.039) 6 44 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108042941 108042941 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:108042941G>A uc001pjz.3 - 13 2872 c.2770C>T c.(2770-2772)CCA>TCA p.P924S NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.P719S NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 924 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) GAAAAGTTTGGTGACACAGCT 0.393 14 151 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6172175 6172175 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:6172175C>G uc001qnn.1 - 13 1728 c.1478G>C c.(1477-1479)AGC>ACC p.S493T VWF_uc010set.1_Missense_Mutation_p.S493T NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 493 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) CTCCCCGTAGCTGAGGCGCAC 0.667 OREG0021618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 67 --- --- --- --- PASS ACRBP 84519 broad.mit.edu 37 12 6756072 6756072 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:6756072C>T uc001qpu.1 - 2 198 c.150G>A c.(148-150)CTG>CTA p.L50L ACRBP_uc010sfg.1_Silent_p.L50L NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 50 acrosomal vesicle|extracellular region central_nervous_system(1) 1 AGGTTGGAGTCAGCAGTGCGA 0.607 55 88 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7639173 7639173 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:7639173G>T uc001qsz.3 - 10 2508 c.2380C>A c.(2380-2382)CGC>AGC p.R794S CD163_uc001qta.3_Missense_Mutation_p.R794S|CD163_uc009zfw.2_Missense_Mutation_p.R827S NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 794 SRCR 7.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TGCCAAATGCGGGATTCTTTT 0.507 11 360 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716959 13716959 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:13716959C>T uc001rbt.2 - 13 3392 c.3213G>A c.(3211-3213)GGG>GGA p.G1071G NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1071 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTCGATGTTCCCATAGGTGA 0.567 28 52 --- --- --- --- PASS ARHGDIB 397 broad.mit.edu 37 12 15095561 15095561 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:15095561C>A uc001rcq.1 - 6 605 c.501G>T c.(499-501)CTG>CTT p.L167L ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 167 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 TGCCTCGCGCCAGCATGCCCT 0.532 50 188 --- --- --- --- PASS ARHGDIB 397 broad.mit.edu 37 12 15095562 15095562 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:15095562A>G uc001rcq.1 - 6 604 c.500T>C c.(499-501)CTG>CCG p.L167P ARHGDIB_uc001rcp.1_RNA NM_001175 NP_001166 P52566 GDIR2_HUMAN Rho GDP dissociation inhibitor (GDI) beta 167 actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol GTPase activator activity|Rho GDP-dissociation inhibitor activity 0 GCCTCGCGCCAGCATGCCCTT 0.527 50 187 --- --- --- --- PASS METTL7B 196410 broad.mit.edu 37 12 56075807 56075807 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:56075807C>A uc010spr.1 + 1 478 c.269C>A c.(268-270)CCG>CAG p.P90Q NM_152637 NP_689850 Q6UX53 MET7B_HUMAN methyltransferase like 7B precursor 90 methyltransferase activity 0 TTCTACCCACCGGGCTGCAGG 0.567 17 50 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56094858 56094858 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:56094858C>T uc001shh.2 - 4 715 c.495G>A c.(493-495)GTG>GTA p.V165V ITGA7_uc001shg.2_Silent_p.V165V|ITGA7_uc010sps.1_Silent_p.V68V|ITGA7_uc009znx.2_Silent_p.V52V NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 165 FG-GAP 2.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CCTGGCTGAGCACAAAGCAGC 0.592 24 66 --- --- --- --- PASS CCDC38 120935 broad.mit.edu 37 12 96300166 96300166 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:96300166T>C uc001tek.1 - 5 602 c.368A>G c.(367-369)GAG>GGG p.E123G NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 123 skin(1) 1 TTTTACTACCTCGAGCAGAAA 0.363 11 48 --- --- --- --- PASS IGF1 3479 broad.mit.edu 37 12 102813396 102813396 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:102813396C>T uc001tjp.3 - 3 512 c.293G>A c.(292-294)CGG>CAG p.R98Q IGF1_uc001tjn.2_Missense_Mutation_p.R82Q|IGF1_uc001tjm.2_Missense_Mutation_p.R98Q|IGF1_uc001tjo.2_Missense_Mutation_p.R98Q NM_001111285 NP_001104755 P05019 IGF1_HUMAN insulin-like growth factor 1 isoform 3 98 A. anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|pancreas(1) 2 ATCACAGCTCCGGAAGCAGCA 0.597 3 53 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129559245 129559245 + Silent SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr12:129559245T>C uc009zyl.1 - 9 2803 c.2475A>G c.(2473-2475)AGA>AGG p.R825R TMEM132D_uc001uia.2_Silent_p.R363R NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 825 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTTTGGGCCTTCTGTCACTGA 0.512 4 95 --- --- --- --- PASS UGGT2 55757 broad.mit.edu 37 13 96513097 96513097 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr13:96513097C>A uc001vmt.2 - 32 3855 c.3685G>T c.(3685-3687)GAT>TAT p.D1229Y NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 1229 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TTTAGGACATCTTTTTCCTTT 0.259 19 22 --- --- --- --- PASS TM9SF2 9375 broad.mit.edu 37 13 100181844 100181844 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr13:100181844C>T uc001voj.1 + 4 590 c.457C>T c.(457-459)CAC>TAC p.H153Y TM9SF2_uc010afz.1_Intron NM_004800 NP_004791 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 precursor 153 Lumenal (Potential). transport endosome membrane|integral to plasma membrane ovary(1) 1 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) TTATCAACATCACTGGTAAGG 0.294 23 72 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101763490 101763490 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr13:101763490G>A uc001vox.1 - 19 2469 c.2280C>T c.(2278-2280)ATC>ATT p.I760I NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 760 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTCTTGGCGGATATGATGCT 0.522 12 217 --- --- --- --- PASS TMCO3 55002 broad.mit.edu 37 13 114203835 114203835 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr13:114203835G>A uc001vtu.3 + 13 2377 c.2016G>A c.(2014-2016)GAG>GAA p.E672E NM_017905 NP_060375 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 672 integral to membrane solute:hydrogen antiporter activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) CCAGACCGGAGAGACGGTCCA 0.607 8 34 --- --- --- --- PASS OR4N5 390437 broad.mit.edu 37 14 20612092 20612092 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr14:20612092G>T uc010tla.1 + 1 198 c.198G>T c.(196-198)TTG>TTT p.L66F NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCAACTTGGCCTTACTGG 0.468 14 209 --- --- --- --- PASS PARP2 10038 broad.mit.edu 37 14 20824553 20824553 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr14:20824553G>C uc001vxc.2 + 12 1256 c.1228G>C c.(1228-1230)GAT>CAT p.D410H PARP2_uc001vxd.2_Missense_Mutation_p.D397H|PARP2_uc001vxb.1_Missense_Mutation_p.D410H|PARP2_uc010tle.1_Missense_Mutation_p.D160H NM_005484 NP_005475 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase family, member 2 410 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity ovary(1)|pancreas(1) 2 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) AGTGGAGAAGGATGGTGAGAA 0.458 Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA 18 166 --- --- --- --- PASS TPPP2 122664 broad.mit.edu 37 14 21500193 21500193 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr14:21500193G>C uc001vzh.2 + 4 658 c.470G>C c.(469-471)AGT>ACT p.S157T NDRG2_uc010tll.1_Intron NM_173846 NP_776245 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family 157 cytoplasm 0 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GGCTATGTGAGTGGTTACAAG 0.542 9 63 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42361139 42361139 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr14:42361139C>A uc001wvm.2 + 4 3270 c.2072C>A c.(2071-2073)ACG>AAG p.T691K LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 691 Cytoplasmic (Potential). integral to membrane p.T691M(1) ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GAGGGGCCCACGTCTAAAAGA 0.468 HNSCC(30;0.082) 20 28 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106235847 106235847 + RNA SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr14:106235847C>G uc010tyt.1 - 3617 c.58000G>C uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysh.1_RNA|uc001ysi.1_RNA Parts of antibodies, mostly variable regions. 0 TCTTGGTCATCTCCTCCCGGG 0.637 61 207 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34649392 34649392 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:34649392G>C uc001zif.2 + 7 3254 c.3099G>C c.(3097-3099)AGG>AGC p.R1033S C15orf55_uc010ucc.1_Missense_Mutation_p.R1061S|C15orf55_uc010ucd.1_Missense_Mutation_p.R1051S NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1033 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) TCTCACCAAGGGAGCATCCCC 0.532 T BRD3|BRD4 lethal midline carcinoma 25 51 --- --- --- --- PASS TUBGCP4 27229 broad.mit.edu 37 15 43692396 43692396 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:43692396G>C uc001zro.2 + 14 1816 c.1576G>C c.(1576-1578)GAT>CAT p.D526H TUBGCP4_uc001zrn.2_Missense_Mutation_p.D525H|TUBGCP4_uc010bdh.2_RNA NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 526 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton ovary(3) 3 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ATTTTTGGTGGATAATCTTCA 0.488 29 112 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45426062 45426062 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:45426062G>T uc001zus.1 + 4 405 c.59G>T c.(58-60)GGA>GTA p.G20V DUOX1_uc001zut.1_Missense_Mutation_p.G20V|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 20 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TCTCACACAGGAGCTCAGAAC 0.577 35 93 --- --- --- --- PASS SLC24A5 283652 broad.mit.edu 37 15 48413351 48413351 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:48413351C>A uc001zwe.2 + 1 183 c.110C>A c.(109-111)CCA>CAA p.P37Q SLC24A5_uc001zwd.2_Missense_Mutation_p.P37Q|SLC24A5_uc010bel.2_Missense_Mutation_p.P37Q NM_205850 NP_995322 Q71RS6 NCKX5_HUMAN solute carrier family 24, member 5 precursor 37 Extracellular (Potential). response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity 0 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CAACGTCTCCCAAGGGCCACA 0.572 15 38 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48717600 48717600 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:48717600G>T uc001zwx.1 - 60 7747 c.7419C>A c.(7417-7419)GGC>GGA p.G2473G FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2473 EGF-like 42; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCAGAATGTAGCCTTTCGGGC 0.473 6 115 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54630593 54630593 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:54630593T>C uc002ack.2 + 15 4619 c.4619T>C c.(4618-4620)ATG>ACG p.M1540T UNC13C_uc002acl.2_Missense_Mutation_p.M370T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1540 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AAAGCGAGCATGGTGGTGAAG 0.433 67 177 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63084986 63084986 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:63084986G>T uc002alb.3 + 43 5883 c.5883G>T c.(5881-5883)AAG>AAT p.K1961N TLN2_uc002alc.3_Missense_Mutation_p.K354N NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1961 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 TCACGGAAAAGGTAAGGAGCA 0.552 5 32 --- --- --- --- PASS PLEKHO2 80301 broad.mit.edu 37 15 65158077 65158077 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:65158077G>T uc002anv.2 + 6 1597 c.1463G>T c.(1462-1464)AGT>ATT p.S488I PLEKHO2_uc010bgz.2_Missense_Mutation_p.S164I|PLEKHO2_uc002anw.2_Missense_Mutation_p.S438I NM_025201 NP_079477 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O 488 ovary(1)|lung(1) 2 TACAGGAGAAGTGCACCCTAG 0.577 15 49 --- --- --- --- PASS MAN2C1 4123 broad.mit.edu 37 15 75656349 75656349 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:75656349T>C uc002baf.2 - 6 798 c.781A>G c.(781-783)ATT>GTT p.I261V MAN2C1_uc002bag.2_Missense_Mutation_p.I261V|MAN2C1_uc002bah.2_Missense_Mutation_p.I261V|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.I43V|MAN2C1_uc010umj.1_Intron|MAN2C1_uc010umk.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 261 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CCTGTATCAATGTGGCAGTGC 0.418 19 54 --- --- --- --- PASS HMG20A 10363 broad.mit.edu 37 15 77771649 77771649 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:77771649G>T uc002bcr.2 + 10 1237 c.1036G>T c.(1036-1038)GAT>TAT p.D346Y HMG20A_uc002bcs.2_Missense_Mutation_p.D346Y NM_018200 NP_060670 Q9NP66 HM20A_HUMAN high-mobility group 20A 346 chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.D346N(1) upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 GAACAGACTCGATCGTTAGGG 0.358 22 27 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83331597 83331597 + Nonsense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:83331597G>T uc010uoh.1 - 22 2802 c.2625C>A c.(2623-2625)TAC>TAA p.Y875* AP3B2_uc010uoi.1_Nonsense_Mutation_p.Y894*|AP3B2_uc010uoj.1_Nonsense_Mutation_p.Y843*|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Nonsense_Mutation_p.Y511* NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 875 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GGCTGAAGGTGTAGTCCACAG 0.617 4 38 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86124590 86124590 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:86124590A>G uc002blv.1 + 7 3461 c.3291A>G c.(3289-3291)CTA>CTG p.L1097L AKAP13_uc002blt.1_Silent_p.L1097L|AKAP13_uc002blu.1_Silent_p.L1097L|AKAP13_uc010bne.1_5'Flank NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1097 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 TTAATGCTCTACAAGGTATGG 0.473 16 110 --- --- --- --- PASS ISG20 3669 broad.mit.edu 37 15 89198686 89198686 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:89198686C>T uc002bmv.1 + 4 763 c.470C>T c.(469-471)GCA>GTA p.A157V ISG20_uc002bmu.1_RNA|ISG20_uc002bmw.1_RNA|ISG20_uc010upn.1_RNA NM_002201 NP_002192 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease 157 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity 0 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) GATGCGAGGGCAACGATGGAG 0.602 18 100 --- --- --- --- PASS PRC1 9055 broad.mit.edu 37 15 91524812 91524812 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr15:91524812C>G uc002bqm.2 - 5 746 c.589G>C c.(589-591)GAA>CAA p.E197Q PRC1_uc002bqn.2_Missense_Mutation_p.E197Q|PRC1_uc002bqo.2_Missense_Mutation_p.E197Q|PRC1_uc010uqs.1_Missense_Mutation_p.E156Q|PRC1_uc010uqt.1_Missense_Mutation_p.E145Q NM_003981 NP_003972 O43663 PRC1_HUMAN protein regulator of cytokinesis 1 isoform 1 197 Dimerization. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding ovary(1)|skin(1) 2 Lung NSC(78;0.0987)|all_lung(78;0.175) ACATCTCTTTCAAAGCTTGTG 0.413 13 66 --- --- --- --- PASS FLYWCH1 84256 broad.mit.edu 37 16 2987296 2987296 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr16:2987296G>T uc002csd.2 + 7 2051 c.1688G>T c.(1687-1689)CGC>CTC p.R563L FLYWCH1_uc002csb.2_Missense_Mutation_p.R562L|FLYWCH1_uc002csc.2_Missense_Mutation_p.R562L|FLYWCH1_uc010bsv.2_Missense_Mutation_p.R287L|FLYWCH1_uc002cse.2_Missense_Mutation_p.R18L NM_032296 NP_115672 Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 isoform a 563 FLYWCH-type 4. nucleus DNA binding|metal ion binding 0 ATGGTCATGCGCAGGCACTGC 0.726 11 13 --- --- --- --- PASS RRN3 54700 broad.mit.edu 37 16 15188060 15188060 + Missense_Mutation SNP G A A rs139679899 by1000genomes TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr16:15188060G>A uc002dde.2 - 1 99 c.31C>T c.(31-33)CCG>TCG p.P11S PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzq.1_Missense_Mutation_p.P11S|RRN3_uc002ddf.1_Missense_Mutation_p.P11S|uc010bve.1_5'Flank NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 11 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 GCATCTCCCGGCAAACGCGTG 0.637 3 28 --- --- --- --- PASS RRN3 54700 broad.mit.edu 37 16 15188066 15188066 + Missense_Mutation SNP G A A rs142601938 by1000genomes TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr16:15188066G>A uc002dde.2 - 1 93 c.25C>T c.(25-27)CGT>TGT p.R9C PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzq.1_Missense_Mutation_p.R9C|RRN3_uc002ddf.1_Missense_Mutation_p.R9C|uc010bve.1_5'Flank NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 9 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 CCCGGCAAACGCGTGTGAAGC 0.642 3 28 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48256530 48256530 + Silent SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr16:48256530T>A uc002eff.1 - 5 1106 c.756A>T c.(754-756)GTA>GTT p.V252V ABCC11_uc002efg.1_Silent_p.V252V|ABCC11_uc002efh.1_Silent_p.V252V|ABCC11_uc010vgl.1_Silent_p.V252V NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 252 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGATGTGTATTACAGACTTAA 0.512 Cerumen_Type 23 62 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81209275 81209275 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr16:81209275G>C uc002fgh.1 - 15 2518 c.2518C>G c.(2518-2520)CTG>GTG p.L840V PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.L155V|PKD1L2_uc002fgj.2_Missense_Mutation_p.L840V|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Missense_Mutation_p.L96V NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 840 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 ACTACTGTCAGCACAAAGTCA 0.522 17 100 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:7578235T>C uc002gim.2 - 6 808 c.614A>G c.(613-615)TAT>TGT p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (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.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(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) GTCATCCAAATACTCCACACG 0.542 111 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) 33 22 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10543520 10543520 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:10543520G>A uc002gmq.1 - 21 2552 c.2475C>T c.(2473-2475)GTC>GTT p.V825V NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 825 V -> D (in DA2A). muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GCCAGTGCTTGACGTTCATGA 0.468 43 96 --- --- --- --- PASS TRIM16L 147166 broad.mit.edu 37 17 18638695 18638695 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:18638695G>C uc002gug.1 + 10 1656 c.969G>C c.(967-969)AAG>AAC p.K323N TRIM16L_uc010vyf.1_Missense_Mutation_p.K377N|TRIM16L_uc002guh.1_Missense_Mutation_p.K323N|TRIM16L_uc010cqg.1_Missense_Mutation_p.K425N|TRIM16L_uc002gui.1_Missense_Mutation_p.K323N|TRIM16L_uc010vyg.1_Missense_Mutation_p.K323N|TRIM16L_uc010vyh.1_3'UTR NM_001037330 NP_001032407 Q309B1 TR16L_HUMAN tripartite motif-containing 16-like 323 B30.2/SPRY. cytoplasm 0 TTTCCAAGAAGGAAAACGCCA 0.512 30 45 --- --- --- --- PASS SLFN13 146857 broad.mit.edu 37 17 33767706 33767706 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:33767706T>A uc002hjk.1 - 4 2932 c.2602A>T c.(2602-2604)ATC>TTC p.I868F SLFN13_uc010wch.1_Missense_Mutation_p.I868F|SLFN13_uc002hjl.2_Missense_Mutation_p.I868F|SLFN13_uc010ctt.2_Missense_Mutation_p.I550F|SLFN13_uc002hjm.2_Missense_Mutation_p.I537F NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 868 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CTTGGATGGATCCCAAACACT 0.483 57 104 --- --- --- --- PASS ACACA 31 broad.mit.edu 37 17 35487070 35487070 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:35487070G>T uc002hnm.2 - 46 5834 c.5643C>A c.(5641-5643)ACC>ACA p.T1881T ACACA_uc002hnk.2_Silent_p.T1803T|ACACA_uc002hnl.2_Silent_p.T1823T|ACACA_uc002hnn.2_Silent_p.T1881T|ACACA_uc002hno.2_Silent_p.T1918T|ACACA_uc010cuy.2_Silent_p.T526T|ACACA_uc010wdc.1_Silent_p.T7T NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1881 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CAGTGCAGTGGGTCACCCCAT 0.532 54 83 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247203 56247203 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:56247203C>T uc010wnp.1 + 1 187 c.187C>T c.(187-189)CTC>TTC p.L63F NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 GTACTTTCTGCTCCGAAACCT 0.473 100 130 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60753804 60753804 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:60753804G>T uc002jad.2 + 11 2148 c.1746G>T c.(1744-1746)ACG>ACT p.T582T MRC2_uc002jac.2_Silent_p.T582T|MRC2_uc010ddq.1_RNA NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 582 Extracellular (Potential).|C-type lectin 3. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 ACTTCTGGACGGCCCTGCAGG 0.612 45 63 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60753805 60753805 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:60753805G>T uc002jad.2 + 11 2149 c.1747G>T c.(1747-1749)GCC>TCC p.A583S MRC2_uc002jac.2_Missense_Mutation_p.A583S|MRC2_uc010ddq.1_RNA NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 583 Extracellular (Potential).|C-type lectin 3. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CTTCTGGACGGCCCTGCAGGA 0.612 45 63 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65134182 65134182 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:65134182C>A uc010wqk.1 - 22 3008 c.2821G>T c.(2821-2823)GTA>TTA p.V941L HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V940L NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CCCCACGCTACTGGCCACTTC 0.398 48 80 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72842296 72842296 + Silent SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:72842296G>C uc002jlt.1 - 11 2415 c.2259C>G c.(2257-2259)GTC>GTG p.V753V GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.V753V NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 753 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) TGGTAGCAAAGACCTTGCCAG 0.587 7 146 --- --- --- --- PASS GRIN2C 2905 broad.mit.edu 37 17 72846477 72846477 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:72846477G>A uc002jlt.1 - 6 1515 c.1359C>T c.(1357-1359)TGC>TGT p.C453C GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.C453C NM_000835 NP_000826 Q14957 NMDE3_HUMAN N-methyl-D-aspartate receptor subunit 2C 453 Extracellular (Potential). glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity ovary(2)|breast(2) 4 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) ATCCCTTACAGCAGAGCTTGG 0.617 100 118 --- --- --- --- PASS C17orf28 283987 broad.mit.edu 37 17 72955976 72955976 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:72955976C>T uc002jmj.3 - 8 1157 c.1008G>A c.(1006-1008)GAG>GAA p.E336E C17orf28_uc010wrs.1_Silent_p.E135E|C17orf28_uc002jmk.2_Silent_p.E335E NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 336 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) CTGGACTTGCCTCCTCACGAT 0.602 98 104 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78073416 78073416 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:78073416C>A uc010dht.2 + 20 3298 c.3271C>A c.(3271-3273)CAG>AAG p.Q1091K CCDC40_uc002jxm.3_Missense_Mutation_p.Q874K|CCDC40_uc002jxn.3_Missense_Mutation_p.Q487K|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1091 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCGCTCCAAGCAGTCCCTAGT 0.632 4 68 --- --- --- --- PASS AZI1 22994 broad.mit.edu 37 17 79164546 79164546 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr17:79164546C>A uc002jzp.1 - 24 3209 c.3009G>T c.(3007-3009)GAG>GAT p.E1003D AZI1_uc002jzm.1_Missense_Mutation_p.E435D|AZI1_uc002jzn.1_Missense_Mutation_p.E1000D|AZI1_uc002jzo.1_Missense_Mutation_p.E964D|AZI1_uc010wum.1_Missense_Mutation_p.E967D|AZI1_uc002jzq.2_Missense_Mutation_p.E151D NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 1003 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GGTCCTCGAACTCCTGGCGGA 0.692 6 37 --- --- --- --- PASS MYOM1 8736 broad.mit.edu 37 18 3215167 3215167 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:3215167T>C uc002klp.2 - 2 389 c.55A>G c.(55-57)AAC>GAC p.N19D MYOM1_uc002klq.2_Missense_Mutation_p.N19D NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 19 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 ACGTCCTTGTTGCGGTAGCTG 0.587 17 38 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6943182 6943182 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:6943182G>C uc002knm.2 - 62 9158 c.9064C>G c.(9064-9066)CCT>GCT p.P3022A LAMA1_uc002knk.2_Missense_Mutation_p.P352A|LAMA1_uc002knl.2_Missense_Mutation_p.P475A|LAMA1_uc010wzj.1_Missense_Mutation_p.P2498A NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 3022 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACATACCAGGATAGCCACCA 0.498 31 69 --- --- --- --- PASS KIAA0802 23255 broad.mit.edu 37 18 8784453 8784453 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:8784453G>T uc002knr.2 + 6 1485 c.1343G>T c.(1342-1344)CGG>CTG p.R448L KIAA0802_uc002knq.2_Missense_Mutation_p.R448L|KIAA0802_uc010dkw.1_Missense_Mutation_p.R286L NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 799 0 CTGAAGGCCCGGGAGGACTCT 0.622 63 119 --- --- --- --- PASS TAF4B 6875 broad.mit.edu 37 18 23866131 23866131 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:23866131G>A uc002kvu.3 + 7 1747 c.1258G>A c.(1258-1260)GCA>ACA p.A420T TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.A420T NM_005640 NP_005631 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding 420 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) CCCAACTGCTGCAACAGGAGG 0.507 33 83 --- --- --- --- PASS RIT2 6014 broad.mit.edu 37 18 40503645 40503645 + Silent SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:40503645T>A uc002lav.2 - 4 491 c.318A>T c.(316-318)TCA>TCT p.S106S RIT2_uc010dnf.2_Silent_p.S106S NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 106 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 CCTCCTGAAATGATTGACGGT 0.483 117 261 --- --- --- --- PASS SLC14A1 6563 broad.mit.edu 37 18 43314309 43314309 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:43314309G>T uc010xcn.1 + 6 731 c.412G>T c.(412-414)GAC>TAC p.D138Y SLC14A1_uc010dnk.2_Missense_Mutation_p.D194Y|SLC14A1_uc002lbf.3_Missense_Mutation_p.D138Y|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.D33Y|SLC14A1_uc002lbh.3_Missense_Mutation_p.D30Y|SLC14A1_uc002lbi.3_Missense_Mutation_p.D6Y|SLC14A1_uc002lbj.3_Missense_Mutation_p.D194Y|SLC14A1_uc002lbk.3_Missense_Mutation_p.D138Y NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 138 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 TGTCTTTTCGGACAAGGGAGA 0.448 55 132 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46284498 46284498 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:46284498G>A uc002ldc.2 + 8 1078 c.793G>A c.(793-795)GCA>ACA p.A265T KIAA0427_uc002ldd.2_Missense_Mutation_p.A265T|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 265 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 CAAGGGGGAGGCAGGCGCACA 0.647 20 56 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56246255 56246255 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr18:56246255G>A uc002lhj.3 - 4 1967 c.1753C>T c.(1753-1755)CAC>TAC p.H585Y NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 585 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GCTGTGGTGTGAGAAGTCTCT 0.488 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 84 --- --- --- --- PASS CELF5 60680 broad.mit.edu 37 19 3278102 3278102 + Silent SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:3278102C>T uc002lxm.2 + 5 634 c.597C>T c.(595-597)ACC>ACT p.T199T CELF5_uc002lxl.1_Silent_p.T199T|CELF5_uc010dtj.1_Silent_p.T199T|CELF5_uc010xhg.1_Silent_p.T85T|CELF5_uc002lxn.2_RNA NM_021938 NP_068757 Q8N6W0 CELF5_HUMAN bruno-like 5, RNA binding protein 199 RRM 2. mRNA processing cytoplasm|nucleus nucleotide binding|RNA binding ovary(2) 2 GGAGCCAGACCATGCCGGTGA 0.617 9 21 --- --- --- --- PASS FSD1 79187 broad.mit.edu 37 19 4323157 4323157 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:4323157C>A uc002lzy.2 + 11 1367 c.1214C>A c.(1213-1215)GCC>GAC p.A405D FSD1_uc002lzz.2_Intron|FSD1_uc002maa.2_Missense_Mutation_p.A218D NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 405 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTCACGGCCAAGCACGCC 0.667 27 49 --- --- --- --- PASS ACTL9 284382 broad.mit.edu 37 19 8808441 8808441 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:8808441T>C uc002mkl.2 - 1 732 c.611A>G c.(610-612)TAC>TGC p.Y204C NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN actin-like 9 204 cytoplasm|cytoskeleton large_intestine(2)|pancreas(1) 3 GGGCACTGTGTAGGTGACCCC 0.667 34 53 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9064008 9064008 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:9064008G>A uc002mkp.2 - 3 23642 c.23438C>T c.(23437-23439)CCT>CTT p.P7813L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7815 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AAGGAAGGCAGGAGTTGATGT 0.537 49 136 --- --- --- --- PASS C3P1 388503 broad.mit.edu 37 19 10158116 10158116 + RNA SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:10158116C>T uc010dwx.1 + 11 c.1559C>T NR_027300 Synthetic construct DNA, clone: pF1KB7402, Homo sapiens LOC388503 gene, without stop codon, in Flexi system. 0 TGTACAATTTCAGGGATCGCC 0.438 39 122 --- --- --- --- PASS ATG4D 84971 broad.mit.edu 37 19 10662585 10662585 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:10662585T>C uc002mov.2 + 7 1099 c.979T>C c.(979-981)TGC>CGC p.C327R ATG4D_uc010xlh.1_Missense_Mutation_p.C264R|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_5'UTR|MIR1238_hsa-mir-1238|MI0006328_5'Flank NM_032885 NP_116274 Q86TL0 ATG4D_HUMAN APG4 autophagy 4 homolog D 327 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity 0 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) ACTCCTGCGTTGCGAGCTGTG 0.348 14 24 --- --- --- --- PASS CHERP 10523 broad.mit.edu 37 19 16632349 16632349 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:16632349G>C uc002nei.1 - 12 2171 c.2097C>G c.(2095-2097)CAC>CAG p.H699Q MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.H238Q NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 699 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 TGGGCCTGTCGTGGGACGGGG 0.672 8 21 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17438618 17438618 + Silent SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:17438618G>T uc002ngf.2 - 14 2457 c.2298C>A c.(2296-2298)CCC>CCA p.P766P ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 766 Helical; (Potential). chloride channel complex chloride channel activity ovary(3) 3 GCGCCGCCAGGGGGAAGGCGG 0.652 50 112 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21300974 21300974 + Nonsense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:21300974C>T uc002npo.3 + 6 1867 c.1507C>T c.(1507-1509)CAG>TAG p.Q503* ZNF714_uc002npl.2_Nonsense_Mutation_p.Q348*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.Q454*|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 503 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAGGAAAATTCAgcagggcat 0.154 9 15 --- --- --- --- PASS ZNF714 148206 broad.mit.edu 37 19 21300975 21300975 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:21300975A>G uc002npo.3 + 6 1868 c.1508A>G c.(1507-1509)CAG>CGG p.Q503R ZNF714_uc002npl.2_Missense_Mutation_p.Q348R|ZNF714_uc010ecp.1_Missense_Mutation_p.Q454R|ZNF714_uc002npn.2_RNA NM_182515 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 503 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGAAAATTCAgcagggcatg 0.154 9 15 --- --- --- --- PASS ZNF431 170959 broad.mit.edu 37 19 21366002 21366002 + Missense_Mutation SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:21366002G>C uc002npp.2 + 5 1043 c.896G>C c.(895-897)CGG>CCG p.R299P ZNF431_uc010ecq.2_Missense_Mutation_p.R208P|ZNF431_uc010ecr.2_Missense_Mutation_p.R300P NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 299 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 GCCTTCAACCGGTCCTCACAC 0.408 18 50 --- --- --- --- PASS ZNF429 353088 broad.mit.edu 37 19 21720399 21720399 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:21720399G>A uc002nqd.1 + 4 1681 c.1544G>A c.(1543-1545)GGC>GAC p.G515D ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 515 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GAAGAATGTGGCAAAGCTTTT 0.368 12 32 --- --- --- --- PASS PPFIA3 8541 broad.mit.edu 37 19 49631295 49631295 + Silent SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:49631295A>G uc002pmr.2 + 2 497 c.165A>G c.(163-165)ACA>ACG p.T55T PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 55 Potential. cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GGTTGGCTACAGCGCAGCTGC 0.726 12 11 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56369695 56369695 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr19:56369695C>G uc002qmd.3 + 3 1358 c.936C>G c.(934-936)TGC>TGG p.C312W NLRP4_uc002qmf.2_Missense_Mutation_p.C237W|NLRP4_uc010etf.2_Missense_Mutation_p.C143W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 312 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGTATTTCTGCTGTTTCTTCA 0.493 4 80 --- --- --- --- PASS SPATA2 9825 broad.mit.edu 37 20 48524716 48524716 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr20:48524716C>A uc010gie.2 - 2 662 c.312G>T c.(310-312)TGG>TGT p.W104C SPATA2_uc002xuw.2_Missense_Mutation_p.W104C|SPATA2_uc010zyn.1_Intron NM_001135773 NP_001129245 Q9UM82 SPAT2_HUMAN spermatogenesis associated 2 104 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(150;0.133) BRCA - Breast invasive adenocarcinoma(9;4.03e-06) ATTCCTTCTTCCACGGGTAGA 0.602 37 138 --- --- --- --- PASS TMEM189-UBE2V1 387522 broad.mit.edu 37 20 48746194 48746194 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr20:48746194C>G uc002xvf.2 - 4 528 c.367G>C c.(367-369)GAC>CAC p.D123H TMEM189_uc010zyq.1_RNA|TMEM189_uc002xvg.2_Missense_Mutation_p.D123H|TMEM189_uc010gif.2_Missense_Mutation_p.D120H|TMEM189_uc010zyp.1_Missense_Mutation_p.D48H NM_199203 NP_954673 Q13404 UB2V1_HUMAN TMEM189-UBE2V1 readthrough transcript Error:Variant_position_missing_in_Q13404_after_alignment cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex acid-amino acid ligase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(9;8.29e-07) GCTGTCGGGTCAATGTGGTGC 0.602 6 119 --- --- --- --- PASS CDH26 60437 broad.mit.edu 37 20 58559798 58559798 + Missense_Mutation SNP A C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr20:58559798A>C uc002ybe.2 + 6 946 c.646A>C c.(646-648)AGT>CGT p.S216R CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 216 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ACTGAAAGAAAGTGGTTTCCG 0.358 82 85 --- --- --- --- PASS RBM11 54033 broad.mit.edu 37 21 15591904 15591904 + Silent SNP G C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr21:15591904G>C uc002yjo.3 + 2 159 c.117G>C c.(115-117)GTG>GTC p.V39V RBM11_uc002yjn.3_5'UTR|RBM11_uc002yjp.3_Intron NM_144770 NP_658983 P57052 RBM11_HUMAN RNA binding motif protein 11 39 RRM. nucleotide binding|RNA binding 0 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TAACCAAAGTGACTATATGCA 0.338 4 13 --- --- --- --- PASS KRTAP13-3 337960 broad.mit.edu 37 21 31798087 31798087 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr21:31798087C>A uc002yob.1 - 1 144 c.144G>T c.(142-144)CTG>CTT p.L48L NM_181622 NP_853653 Q3SY46 KR133_HUMAN keratin associated protein 13-3 48 1.|5 X 10 AA approximate repeats. intermediate filament ovary(1)|lung(1) 2 GAGAGGAACCCAGCTGGCAGG 0.597 30 78 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41414584 41414584 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr21:41414584G>T uc002yyq.1 - 32 5852 c.5400C>A c.(5398-5400)AGC>AGA p.S1800R DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1800 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGAGACCATGCTGCTTCTTG 0.542 16 52 --- --- --- --- PASS KRTAP10-9 386676 broad.mit.edu 37 21 46047883 46047883 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr21:46047883C>A uc002zfp.3 + 1 844 c.795C>A c.(793-795)GCC>GCA p.A265A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 265 keratin filament 0 GCCGCCAGGCCTCCTGTGTGT 0.697 51 106 --- --- --- --- PASS TSSK2 23617 broad.mit.edu 37 22 19119491 19119491 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr22:19119491G>T uc002zow.2 + 1 1171 c.579G>T c.(577-579)CAG>CAT p.Q193H DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 193 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) TCCCCTACCAGCCCAAGGTGT 0.602 14 150 --- --- --- --- PASS TXNRD2 10587 broad.mit.edu 37 22 19864720 19864720 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr22:19864720C>A uc011ahc.1 - 17 1516 c.1483G>T c.(1483-1485)GGT>TGT p.G495C TXNRD2_uc002zql.1_Missense_Mutation_p.G249C|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G494C|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Missense_Mutation_p.G145C NM_006440 NP_006431 Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 precursor 495 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity ovary(2) 2 Colorectal(54;0.0993) GGATGGATACCCACGGTCCGC 0.652 13 39 --- --- --- --- PASS RFPL1 5988 broad.mit.edu 37 22 29837976 29837976 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr22:29837976C>A uc003afn.2 + 2 1028 c.819C>A c.(817-819)GTC>GTA p.V273V RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 273 B30.2/SPRY. zinc ion binding 0 TCAGGAGTGTCTCTGCTGAGG 0.468 5 173 --- --- --- --- PASS CCDC157 550631 broad.mit.edu 37 22 30766590 30766590 + Silent SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr22:30766590G>A uc011aku.1 + 5 1356 c.696G>A c.(694-696)CAG>CAA p.Q232Q CCDC157_uc011akv.1_Silent_p.Q232Q NM_001017437 NP_001017437 Q569K6 CC157_HUMAN coiled-coil domain containing 157 232 central_nervous_system(1) 1 GAAGCCTGCAGAAGGTGGGCA 0.622 7 107 --- --- --- --- PASS MOSPD2 158747 broad.mit.edu 37 X 14936842 14936842 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:14936842C>G uc004cwi.2 + 14 1445 c.1357C>G c.(1357-1359)CTT>GTT p.L453V MOSPD2_uc004cwj.2_Missense_Mutation_p.L390V NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 453 integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) ACCAAACACTCTTACGTTAAA 0.279 33 77 --- --- --- --- PASS ACE2 59272 broad.mit.edu 37 X 15605982 15605982 + Splice_Site SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:15605982C>T uc004cxa.1 - 6 865 c.697_splice c.e6-1 p.I233_splice ACE2_uc004cxb.2_Splice_Site_p.I233_splice NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) ATGGTTTAATCTGAAAAGCCC 0.368 7 75 --- --- --- --- PASS PHKA2 5256 broad.mit.edu 37 X 18963197 18963197 + Missense_Mutation SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:18963197T>C uc004cyv.3 - 6 1047 c.617A>G c.(616-618)AAG>AGG p.K206R PHKA2_uc010nfh.1_RNA|PHKA2_uc010nfi.1_Missense_Mutation_p.K148R NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 206 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(33;0.183) AACTGTCACCTTGGCCATTCC 0.438 28 65 --- --- --- --- PASS PDK3 5165 broad.mit.edu 37 X 24544369 24544369 + Missense_Mutation SNP A G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:24544369A>G uc004dbg.2 + 7 957 c.728A>G c.(727-729)CAT>CGT p.H243R PDK3_uc004dbh.2_Missense_Mutation_p.H243R NM_005391 NP_005382 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase 3 isoform 2 243 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 CATCTGTTTCATATGCTATTT 0.368 18 44 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24766501 24766501 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:24766501G>A uc004dbl.2 + 25 2770 c.2747G>A c.(2746-2748)CGG>CAG p.R916Q NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 916 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) AGAGAGATCCGGAAACTGGTA 0.284 11 38 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32366646 32366646 + Splice_Site SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:32366646C>T uc004dda.1 - 38 5570 c.5326_splice c.e38-1 p.A1776_splice DMD_uc004dcw.2_Splice_Site_p.A432_splice|DMD_uc004dcx.2_Splice_Site_p.A435_splice|DMD_uc004dcz.2_Splice_Site_p.A1653_splice|DMD_uc004dcy.1_Splice_Site_p.A1772_splice|DMD_uc004ddb.1_Splice_Site_p.A1768_splice|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GAATGGAGGCCTAAAAAAAAA 0.333 14 21 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34149282 34149282 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:34149282C>A uc004ddg.2 - 1 1147 c.1114G>T c.(1114-1116)GGG>TGG p.G372W NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 372 ovary(4)|central_nervous_system(1) 5 AGACTGGACCCCCGACGAGTC 0.632 22 50 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34961596 34961596 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:34961596C>A uc004ddi.1 + 1 666 c.648C>A c.(646-648)CCC>CCA p.P216P NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 216 Pro-rich. ovary(3)|breast(1) 4 CAGAGCCTCCCAAGACTCGGG 0.672 25 63 --- --- --- --- PASS MED14 9282 broad.mit.edu 37 X 40513614 40513614 + Splice_Site SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:40513614A>T uc004dex.3 - 30 4431 c.4291_splice c.e30+1 p.G1431_splice MED14_uc004dey.1_Silent_p.G333G NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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 breast(2)|kidney(1)|skin(1) 4 CTGGTCATGTACCTTGTCGTG 0.433 14 72 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53592131 53592131 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:53592131C>G uc004dsp.2 - 50 7179 c.6777G>C c.(6775-6777)CAG>CAC p.Q2259H HUWE1_uc004dsn.2_Missense_Mutation_p.Q1083H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2259 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GGCTACTGGGCTGGTTCACAA 0.502 19 75 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54780108 54780108 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:54780108G>T uc004dtj.2 - 11 3358 c.3328C>A c.(3328-3330)CAG>AAG p.Q1110K NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1110 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 TCTATGAGCTGCAGCAAGTCC 0.522 23 63 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54950182 54950182 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:54950182G>A uc004dtq.2 + 3 1324 c.1217G>A c.(1216-1218)CGG>CAG p.R406Q TRO_uc011moj.1_Missense_Mutation_p.R349Q|TRO_uc004dts.2_Missense_Mutation_p.R406Q|TRO_uc004dtr.2_Missense_Mutation_p.R406Q|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 406 embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ACCAGGACCCGGGGCAAAAGA 0.473 14 44 --- --- --- --- PASS ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:57619097G>A uc004dvd.2 + 1 829 c.616G>A c.(616-618)GGG>AGG p.G206R NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 CCAGCAGCCCGGGTGTCTGAT 0.711 3 44 --- --- --- --- PASS SNX12 29934 broad.mit.edu 37 X 70288146 70288146 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:70288146G>T uc004dyr.1 - 1 86 c.11C>A c.(10-12)ACG>AAG p.T4K SNX12_uc004dyp.1_RNA NM_013346 NP_037478 Q9UMY4 SNX12_HUMAN sorting nexin 12 4 cell communication|protein transport membrane phosphatidylinositol binding|protein binding 0 Renal(35;0.156) AGCTACTGCCGTGTCCGACAT 0.617 11 16 --- --- --- --- PASS CXorf65 158830 broad.mit.edu 37 X 70323957 70323957 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:70323957C>A uc011mpo.1 - 6 446 c.432G>T c.(430-432)AAG>AAT p.K144N CXorf65_uc011mpp.1_Missense_Mutation_p.K96N NM_001025265 NP_001020436 A6NEN9 CX065_HUMAN hypothetical protein LOC158830 144 central_nervous_system(1) 1 GTCCTGATTGCTTGGACTAGA 0.443 23 41 --- --- --- --- PASS ZMYM3 9203 broad.mit.edu 37 X 70469495 70469495 + Missense_Mutation SNP T G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:70469495T>G uc004dzh.1 - 7 1373 c.1286A>C c.(1285-1287)CAC>CCC p.H429P BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.H429P|ZMYM3_uc004dzj.1_Missense_Mutation_p.H429P|ZMYM3_uc011mpu.1_Missense_Mutation_p.H160P|ZMYM3_uc004dzk.3_Missense_Mutation_p.H429P|ZMYM3_uc004dzl.3_Missense_Mutation_p.H429P|ZMYM3_uc004dzm.3_Missense_Mutation_p.H429P NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 429 MYM-type 3. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) GCAGAGCCGGTGTACCACGCT 0.582 7 84 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73812546 73812546 + Missense_Mutation SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:73812546C>A uc004ebu.2 - 5 894 c.604G>T c.(604-606)GTC>TTC p.V202F RLIM_uc004ebw.2_Missense_Mutation_p.V202F NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 202 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GTAGGTGGGACCTCTGTTAAC 0.498 56 333 --- --- --- --- PASS ARL13A 392509 broad.mit.edu 37 X 100242485 100242485 + Missense_Mutation SNP C T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:100242485C>T uc004ego.2 + 6 709 c.593C>T c.(592-594)ACC>ATC p.T198I ARL13A_uc011mrf.1_Missense_Mutation_p.T198I|ARL13A_uc010nng.2_Missense_Mutation_p.T198I NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 198 GTP binding ovary(1) 1 CTACCACCTACCTCGAGCATC 0.453 11 155 --- --- --- --- PASS TEX13A 56157 broad.mit.edu 37 X 104464650 104464650 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:104464650G>T uc004ema.2 - 2 544 c.432C>A c.(430-432)GAC>GAA p.D144E IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.D144E NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 144 intracellular zinc ion binding ovary(2) 2 AACTCACCTTGTCTCTCTCTT 0.478 40 57 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105153033 105153033 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:105153033C>G uc004emd.2 + 13 1703 c.1400C>G c.(1399-1401)GCA>GGA p.A467G NRK_uc010npc.1_Missense_Mutation_p.A135G NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 467 Gln-rich. 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 CAGATTAAGGCACCTCCACGA 0.552 HNSCC(51;0.14) 29 41 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105168796 105168796 + Nonsense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:105168796G>T uc004emd.2 + 19 3388 c.3085G>T c.(3085-3087)GGA>TGA p.G1029* NRK_uc010npc.1_Nonsense_Mutation_p.G697* NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1029 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 TAGAAGCCATGGAGGAAGTGC 0.502 HNSCC(51;0.14) 25 25 --- --- --- --- PASS IRS4 8471 broad.mit.edu 37 X 107979218 107979218 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:107979218C>A uc004eoc.2 - 1 390 c.357G>T c.(355-357)CGG>CGT p.R119R NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 119 PH. 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 GGACACTGTGCCGGAACTTCC 0.652 31 72 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117743289 117743289 + Missense_Mutation SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:117743289T>A uc004eqp.2 + 27 2989 c.2926T>A c.(2926-2928)TTG>ATG p.L976M DOCK11_uc004eqq.2_Missense_Mutation_p.L742M NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 976 blood coagulation cytosol GTP binding ovary(3) 3 GGCCACATACTTGTTGGAAGA 0.279 41 141 --- --- --- --- PASS UBE2A 7319 broad.mit.edu 37 X 118717208 118717208 + Missense_Mutation SNP G T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:118717208G>T uc004erl.2 + 6 625 c.449G>T c.(448-450)CGT>CTT p.R150L UBE2A_uc004erm.2_Missense_Mutation_p.R120L|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_Missense_Mutation_p.R75L NM_003336 NP_003327 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A isoform 1 150 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 CAAAGCTGGCGTGATTGTTGA 0.423 Direct_reversal_of_damage|Rad6_pathway 40 190 --- --- --- --- PASS HS6ST2 90161 broad.mit.edu 37 X 131762512 131762512 + Silent SNP T C C TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:131762512T>C uc011mve.1 - 4 1973 c.1557A>G c.(1555-1557)AAA>AAG p.K519K HS6ST2_uc011mvb.1_Silent_p.K413K|HS6ST2_uc011mvc.1_Silent_p.K373K|HS6ST2_uc011mvd.1_Silent_p.K559K|HS6ST2_uc011mva.1_Silent_p.K245K NM_147175 NP_671704 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 isoform 519 Lumenal (Potential). integral to membrane sulfotransferase activity 0 Acute lymphoblastic leukemia(192;0.000127) CCTTCAGAAATTTGCGTTGTT 0.373 38 118 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135432363 135432363 + Silent SNP T A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:135432363T>A uc004ezu.1 + 6 6789 c.6498T>A c.(6496-6498)TCT>TCA p.S2166S GPR112_uc010nsb.1_Silent_p.S1961S|GPR112_uc010nsc.1_Silent_p.S1933S NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2166 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATCACCCTCTACTTTAATTA 0.443 48 151 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140995353 140995353 + Silent SNP C A A TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:140995353C>A uc004fbt.2 + 4 2449 c.2163C>A c.(2161-2163)CTC>CTA p.L721L MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 721 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTCTCTCCTCTCC 0.542 HNSCC(15;0.026) 67 235 --- --- --- --- PASS UBE2NL 389898 broad.mit.edu 37 X 142967587 142967587 + Missense_Mutation SNP C G G TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:142967587C>G uc004fca.2 + 1 415 c.385C>G c.(385-387)CAG>GAG p.Q129E NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 129 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) TGTAGTGGAGCAGTGGAAGAC 0.463 41 147 --- --- --- --- PASS ZNF185 7739 broad.mit.edu 37 X 152128349 152128349 + Missense_Mutation SNP A T T TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:152128349A>T uc010ntv.1 + 17 1550 c.1513A>T c.(1513-1515)ACT>TCT p.T505S ZNF185_uc011myg.1_Missense_Mutation_p.T537S|ZNF185_uc011myh.1_Missense_Mutation_p.T508S|ZNF185_uc011myi.1_Missense_Mutation_p.T476S|ZNF185_uc011myj.1_Missense_Mutation_p.T446S|ZNF185_uc011myk.1_Missense_Mutation_p.T506S|ZNF185_uc004fgw.3_Missense_Mutation_p.T284S|ZNF185_uc004fgu.2_Missense_Mutation_p.T134S|ZNF185_uc004fgv.2_Missense_Mutation_p.T202S|ZNF185_uc004fgx.2_Missense_Mutation_p.T143S NM_007150 NP_009081 O15231 ZN185_HUMAN zinc finger protein 185 505 cytoplasm|cytoskeleton|focal adhesion zinc ion binding ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGCTGTACCCACTCAGCAACC 0.607 9 51 --- --- --- --- PASS KIAA0196 9897 broad.mit.edu 37 8 126049491 126049494 + Frame_Shift_Del DEL TGTA - - TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr8:126049491_126049494delTGTA uc003yrt.2 - 26 3495_3498 c.3166_3169delTACA c.(3166-3171)TACAACfs p.Y1056fs KIAA0196_uc011lir.1_Frame_Shift_Del_p.Y908fs|KIAA0196_uc003yru.1_Frame_Shift_Del_p.Y630fs NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 1056_1057 cell death WASH complex ovary(2) 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) AGATTTTTGTTGTATTGAAGTTTT 0.304 81 39 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133801456 133801456 + Frame_Shift_Del DEL G - - TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chr11:133801456delG uc001qgx.3 - 10 1491 c.1260delC c.(1258-1260)CCCfs p.P420fs IGSF9B_uc001qgy.1_Frame_Shift_Del_p.P262fs NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 420 Extracellular (Potential).|Ig-like 5. integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCGTGAAATAGGGGGGGTCCT 0.652 24 18 --- --- --- --- MAGEE2 139599 broad.mit.edu 37 X 75003354 75003354 + Frame_Shift_Del DEL T - - TCGA-43-6770-01A-11D-1817-08 TCGA-43-6770-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 404ca8c2-f1bb-4749-8abd-87f491a8111c c110c1d0-f64c-4bdf-b3b2-a6fc4f5bbc61 g.chrX:75003354delT uc004ecj.1 - 1 1718 c.1533delA c.(1531-1533)AAAfs p.K511fs NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 511 ovary(1)|skin(1) 2 TTGCCTCAGATTTGGCTCTGG 0.463 124 72 --- --- --- ---