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 MTOR 2475 broad.mit.edu 37 1 11193214 11193214 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:11193214C>A uc001asd.2 - 38 5408 c.5287G>T c.(5287-5289)GGC>TGC p.G1763C MTOR_uc001asc.2_5'Flank NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1763 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 TCATTGATGCCCTGTAGATTC 0.542 23 78 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11193215 11193215 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:11193215C>G uc001asd.2 - 38 5407 c.5286G>C c.(5284-5286)CAG>CAC p.Q1762H MTOR_uc001asc.2_5'Flank NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 1762 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CATTGATGCCCTGTAGATTCA 0.542 23 77 --- --- --- --- PASS TAS1R2 80834 broad.mit.edu 37 1 19181214 19181214 + Silent SNP C T T rs146100319 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:19181214C>T uc001bba.1 - 3 751 c.750G>A c.(748-750)ACG>ACA p.T250T NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 250 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GCTCCTCTGACGTCATGTTCT 0.652 5 24 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22927417 22927417 + Nonsense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:22927417C>A uc001bfx.1 + 15 2690 c.2565C>A c.(2563-2565)TAC>TAA p.Y855* NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 855 Cytoplasmic (Potential).|Protein kinase. 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) AGGAGGGGTACCGCCTGCCCG 0.701 22 54 --- --- --- --- PASS C1orf128 57095 broad.mit.edu 37 1 24113866 24113866 + Nonstop_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:24113866A>T uc001bhq.2 + 6 766 c.636A>T c.(634-636)TAA>TAT p.*212Y C1orf128_uc010oeb.1_Nonstop_Mutation_p.*119Y NM_020362 NP_065095 Q9GZP4 PITH1_HUMAN chromosome 1 open reading frame 128 212 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) TTATTTCCTAAGGGCTGGCCA 0.542 14 62 --- --- --- --- PASS CNR2 1269 broad.mit.edu 37 1 24202075 24202075 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:24202075A>T uc001bif.2 - 2 160 c.33T>A c.(31-33)AAT>AAA p.N11K NM_001841 NP_001832 P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 11 Extracellular (Potential). behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity skin(2)|central_nervous_system(1) 3 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) CCTTGGAGCCATTGGCTATCT 0.512 29 154 --- --- --- --- PASS SESN2 83667 broad.mit.edu 37 1 28601391 28601391 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:28601391G>T uc001bps.2 + 8 1429 c.1076G>T c.(1075-1077)GGT>GTT p.G359V NM_031459 NP_113647 P58004 SESN2_HUMAN sestrin 2 359 cell cycle arrest cytoplasm|nucleus skin(3)|ovary(2)|pancreas(1)|lung(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) TACCCTGAGGGTGGGCAGCTG 0.572 23 86 --- --- --- --- PASS STK40 83931 broad.mit.edu 37 1 36820883 36820883 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:36820883T>A uc001cak.1 - 6 901 c.494A>T c.(493-495)AAG>ATG p.K165M STK40_uc001cal.1_Missense_Mutation_p.K170M|STK40_uc001cam.1_Missense_Mutation_p.K165M|STK40_uc009vva.1_Missense_Mutation_p.K165M|STK40_uc001can.1_Missense_Mutation_p.K165M NM_032017 NP_114406 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 165 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(1) 1 Myeloproliferative disorder(586;0.0393) CCTCTTCTCCTTGATGACGTA 0.582 53 134 --- --- --- --- PASS MUTYH 4595 broad.mit.edu 37 1 45796905 45796905 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:45796905C>A uc001cnm.2 - 14 1632 c.1416G>T c.(1414-1416)TGG>TGT p.W472C MUTYH_uc009vxn.2_Missense_Mutation_p.W297C|MUTYH_uc001cnf.2_Missense_Mutation_p.W447C|MUTYH_uc009vxo.2_Missense_Mutation_p.W447C|MUTYH_uc001cng.2_Missense_Mutation_p.W458C|MUTYH_uc001cnj.2_Missense_Mutation_p.W355C|MUTYH_uc001cni.2_Missense_Mutation_p.W447C|MUTYH_uc001cnh.2_Missense_Mutation_p.W448C|MUTYH_uc001cno.2_Missense_Mutation_p.W355C|MUTYH_uc001cnk.2_Missense_Mutation_p.W332C|MUTYH_uc010oll.1_Missense_Mutation_p.W156C|MUTYH_uc001cnl.2_Missense_Mutation_p.W461C|MUTYH_uc009vxp.2_Missense_Mutation_p.W475C|MUTYH_uc001cnn.2_Missense_Mutation_p.W462C NM_012222 NP_036354 Q9UIF7 MUTYH_HUMAN mutY homolog isoform 1 472 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding 0 Acute lymphoblastic leukemia(166;0.155) CCTGCGTCAGCCAGCGAGCAC 0.507 Mis colorectal BER_DNA_glycosylases MUTYH-associated_polyposis 28 100 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52703701 52703701 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:52703701A>T uc001cto.2 + 4 784 c.612A>T c.(610-612)GAA>GAT p.E204D ZFYVE9_uc001ctn.2_Missense_Mutation_p.E204D|ZFYVE9_uc001ctp.2_Missense_Mutation_p.E204D NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 204 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AGTCCACTGAAAAAGATATGA 0.343 19 61 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82447526 82447526 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:82447526C>G uc001dit.3 + 18 3278 c.3097C>G c.(3097-3099)CTT>GTT p.L1033V LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.L1033V|LPHN2_uc001div.2_Missense_Mutation_p.L1033V|LPHN2_uc009wcd.2_Missense_Mutation_p.L1033V|LPHN2_uc001diw.2_Missense_Mutation_p.L617V|LPHN2_uc009wce.1_Missense_Mutation_p.L134V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1046 Helical; Name=6; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TCTTCTGTGTCTTCTTGGCCT 0.403 61 249 --- --- --- --- PASS PRKACB 5567 broad.mit.edu 37 1 84544037 84544037 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:84544037G>T uc001djj.2 + 1 293 c.29G>T c.(28-30)GGC>GTC p.G10V PRKACB_uc001djh.1_RNA|PRKACB_uc001dji.2_Missense_Mutation_p.G10V NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 10 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) GCCAAGAAAGGCAGCGAGGTG 0.711 3 31 --- --- --- --- PASS ABCA4 24 broad.mit.edu 37 1 94546254 94546254 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:94546254C>A uc001dqh.2 - 8 983 c.879G>T c.(877-879)ATG>ATT p.M293I ABCA4_uc010otn.1_Missense_Mutation_p.M293I NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 293 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCAAGTCCTGCATACTCGGCC 0.517 26 72 --- --- --- --- PASS LCE5A 254910 broad.mit.edu 37 1 152484143 152484143 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:152484143C>T uc001ezy.2 + 2 309 c.133C>T c.(133-135)CCA>TCA p.P45S CRCT1_uc001ezz.2_5'Flank NM_178438 NP_848525 Q5TCM9 LCE5A_HUMAN late cornified envelope 5A 45 Cys-rich. keratinization ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCCCATGCCCACCTCCAGT 0.502 20 66 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154543919 154543919 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:154543919C>T uc001ffg.2 + 5 884 c.620C>T c.(619-621)GCG>GTG p.A207V NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 207 Extracellular (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) GACATCGTGGCGCTGCCGGGC 0.592 15 68 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156639957 156639957 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:156639957G>T uc001fpq.2 - 4 4156 c.4023C>A c.(4021-4023)GGC>GGA p.G1341G NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1341 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGGCCTCAAGGCCCTCGGAAG 0.537 24 96 --- --- --- --- PASS KCNJ9 3765 broad.mit.edu 37 1 160054285 160054285 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:160054285C>A uc001fuy.1 + 2 707 c.465C>A c.(463-465)GGC>GGA p.G155G NM_004983 NP_004974 Q92806 IRK9_HUMAN potassium inwardly-rectifying channel subfamily 155 Helical; Name=M2; (By similarity). synaptic transmission integral to membrane|plasma membrane G-protein activated inward rectifier potassium channel activity|protein binding ovary(1)|skin(1) 2 all_cancers(52;5.86e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCATGGTGGGCTGCATGTTCG 0.667 17 28 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190195413 190195413 + Missense_Mutation SNP G T T rs148869641 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:190195413G>T uc001gse.1 - 6 992 c.760C>A c.(760-762)CGT>AGT p.R254S FAM5C_uc010pot.1_Missense_Mutation_p.R152S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 254 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGTACAAAACGTTCCTGAAGA 0.353 11 54 --- --- --- --- PASS MARK1 4139 broad.mit.edu 37 1 220809369 220809369 + Splice_Site SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:220809369G>C uc001hmn.3 + 13 2067 c.1470_splice c.e13+1 p.S490_splice MARK1_uc009xdw.2_Splice_Site_p.S490_splice|MARK1_uc010pun.1_Splice_Site_p.S490_splice|MARK1_uc001hmm.3_Splice_Site_p.S468_splice NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TATTCCAAGTGTGAGTAAATA 0.333 6 41 --- --- --- --- PASS SUSD4 55061 broad.mit.edu 37 1 223465960 223465960 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:223465960C>T uc001hnx.2 - 2 816 c.182G>A c.(181-183)GGC>GAC p.G61D SUSD4_uc001hny.3_Missense_Mutation_p.G61D|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.G61D|SUSD4_uc010pux.1_Intron NM_017982 NP_060452 Q5VX71 SUSD4_HUMAN sushi domain containing 4 isoform a 61 Sushi 1.|Extracellular (Potential). integral to membrane 0 GBM - Glioblastoma multiforme(131;0.0611) CTCGGGAATGCCGGGGTCAGC 0.522 3 72 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237801714 237801714 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:237801714G>T uc001hyl.1 + 45 6970 c.6850G>T c.(6850-6852)GGC>TGC p.G2284C NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2284 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGTGTCTAAGGGCTATCCAGA 0.428 48 192 --- --- --- --- PASS OR2L13 284521 broad.mit.edu 37 1 248262831 248262831 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:248262831C>T uc001ids.2 + 3 491 c.154C>T c.(154-156)CCT>TCT p.P52S NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) CCACGTGGATCCTCGTCTCCA 0.498 44 113 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248344136 248344136 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:248344136C>T uc010pzf.1 + 1 849 c.849C>T c.(847-849)CCC>CCT p.P283P NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCTCACTCCCATGCTGAATC 0.483 41 140 --- --- --- --- PASS OR2T6 254879 broad.mit.edu 37 1 248551173 248551173 + Silent SNP C A A rs151042656 byFrequency TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:248551173C>A uc001iei.1 + 1 264 c.264C>A c.(262-264)GGC>GGA p.G88G NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G88G(1) ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATCTCATGGGCGAGGGGACCA 0.527 33 73 --- --- --- --- PASS OR2T5 401993 broad.mit.edu 37 1 248651974 248651974 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr1:248651974G>T uc001iem.1 + 1 85 c.85G>T c.(85-87)GCT>TCT p.A29S NM_001004697 NP_001004697 Q6IEZ7 OR2T5_HUMAN olfactory receptor, family 2, subfamily T, 29 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAAACATCCAGCTCTACTTAG 0.507 23 130 --- --- --- --- PASS HADHB 3032 broad.mit.edu 37 2 26502066 26502066 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:26502066G>T uc002rgz.2 + 9 945 c.694G>T c.(694-696)GCT>TCT p.A232S HADHB_uc010ykv.1_Missense_Mutation_p.A210S|HADHB_uc010ykw.1_Missense_Mutation_p.A217S|HADHB_uc002rha.2_Intron|HADHB_uc010ykx.1_Missense_Mutation_p.A158S NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 232 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGACTGGCCGCTGCCTTTGC 0.542 30 109 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32740406 32740406 + Missense_Mutation SNP G T T rs112352145 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:32740406G>T uc010ezu.2 + 55 11052 c.10918G>T c.(10918-10920)GCT>TCT p.A3640S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3640 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) GAGGAGTCTGGCTAGTTTCTG 0.438 14 48 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32750596 32750596 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:32750596A>T uc010ezu.2 + 59 11955 c.11821A>T c.(11821-11823)AGG>TGG p.R3941W NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3941 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) CAGGAGGGGGAGGACAATACC 0.458 14 62 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50149153 50149153 + Nonsense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:50149153C>A uc010fbp.2 - 6 2065 c.1258G>T c.(1258-1260)GAG>TAG p.E420* NRXN1_uc002rxb.3_Nonsense_Mutation_p.E1154*|NRXN1_uc010fbq.2_Nonsense_Mutation_p.E1525*|NRXN1_uc002rxe.3_Nonsense_Mutation_p.E1455*|NRXN1_uc010yon.1_Nonsense_Mutation_p.E120*|NRXN1_uc002rxa.3_Nonsense_Mutation_p.E117* NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 420 Cytoplasmic (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGTTGTTTCTCCTTTACAACA 0.413 26 75 --- --- --- --- PASS INPP4A 3631 broad.mit.edu 37 2 99155388 99155388 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:99155388C>T uc002syy.2 + 9 1007 c.614C>T c.(613-615)GCG>GTG p.A205V INPP4A_uc010yvj.1_Missense_Mutation_p.A205V|INPP4A_uc010yvk.1_Missense_Mutation_p.A205V|INPP4A_uc002syx.2_Missense_Mutation_p.A205V|INPP4A_uc010fik.2_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type 1 205 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity kidney(1) 1 TTGACGGAGGCGTTAGGAATC 0.438 6 25 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125284887 125284887 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:125284887C>A uc002tno.2 + 10 1864 c.1500C>A c.(1498-1500)TCC>TCA p.S500S CNTNAP5_uc010flu.2_Silent_p.S501S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 500 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCACCGATTCCCAATGTTTAA 0.463 11 62 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141116407 141116407 + Missense_Mutation SNP T G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:141116407T>G uc002tvj.1 - 73 12212 c.11240A>C c.(11239-11241)GAT>GCT p.D3747A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3747 Extracellular (Potential).|LDL-receptor class A 31. 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) GTGATCTTCATCTGAATTGTC 0.388 TSP Lung(27;0.18) 4 129 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141660699 141660699 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:141660699G>T uc002tvj.1 - 23 4528 c.3556C>A c.(3556-3558)CAC>AAC p.H1186N LRP1B_uc010fnl.1_Missense_Mutation_p.H368N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1186 Extracellular (Potential). 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) ACAGAACAGTGGTTGCTACAG 0.388 TSP Lung(27;0.18) 9 45 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141665614 141665614 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:141665614C>T uc002tvj.1 - 22 4324 c.3352G>A c.(3352-3354)GGA>AGA p.G1118R LRP1B_uc010fnl.1_Missense_Mutation_p.G300R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1118 Extracellular (Potential).|LDL-receptor class A 9. 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) TCAATATCTCCATCACACACC 0.413 TSP Lung(27;0.18) 16 60 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141762970 141762970 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:141762970G>T uc002tvj.1 - 15 3409 c.2437C>A c.(2437-2439)CCA>ACA p.P813T LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 813 Extracellular (Potential).|EGF-like 3. 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) CGGCCTCCTGGGATAGCCAAG 0.428 TSP Lung(27;0.18) 16 66 --- --- --- --- PASS ZEB2 9839 broad.mit.edu 37 2 145156530 145156530 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:145156530G>T uc002tvu.2 - 8 2704 c.2224C>A c.(2224-2226)CCA>ACA p.P742T ZEB2_uc002tvv.2_Missense_Mutation_p.P736T|ZEB2_uc010zbm.1_Missense_Mutation_p.P713T|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P771T NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 742 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTATAGATGGTGATGTTATG 0.418 60 205 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162760576 162760576 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:162760576G>A uc002ubx.3 + 13 1689 c.1505G>A c.(1504-1506)AGA>AAA p.R502K SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R472K|SLC4A10_uc010zcs.1_Missense_Mutation_p.R483K NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 502 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AGTGACTTCAGAGATGCTTTC 0.433 4 12 --- --- --- --- PASS CALCRL 10203 broad.mit.edu 37 2 188210986 188210986 + Silent SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:188210986A>T uc002upv.3 - 15 1859 c.1311T>A c.(1309-1311)CCT>CCA p.P437P CALCRL_uc010frt.2_Silent_p.P437P NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 437 Cytoplasmic (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) AGTGTTCACTAGGACAGTCAT 0.363 10 41 --- --- --- --- PASS DIRC1 116093 broad.mit.edu 37 2 189599601 189599601 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:189599601G>T uc002uqi.1 - 2 318 c.47C>A c.(46-48)CCC>CAC p.P16H NM_052952 NP_443184 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 16 0 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) GTCTGTGGTGGGCAGTGATGT 0.522 19 66 --- --- --- --- PASS FAM117B 150864 broad.mit.edu 37 2 203622139 203622139 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:203622139G>T uc010zhx.1 + 6 1318 c.1308G>T c.(1306-1308)CTG>CTT p.L436L NM_173511 NP_775782 Q6P1L5 F117B_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 436 ovary(1) 1 CGGATGACCTGCTTGTTGATC 0.468 15 44 --- --- --- --- PASS GPR1 2825 broad.mit.edu 37 2 207040914 207040914 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr2:207040914G>C uc002vbl.3 - 3 1444 c.1058C>G c.(1057-1059)ACA>AGA p.T353R GPR1_uc010fue.2_Missense_Mutation_p.T353R|GPR1_uc010fuf.2_Missense_Mutation_p.T353R NM_005279 NP_005270 P46091 GPR1_HUMAN G protein-coupled receptor 1 353 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888) UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184) TTATTGAGCTGTTTCCAGGAG 0.413 8 33 --- --- --- --- PASS ATP2B2 491 broad.mit.edu 37 3 10400554 10400554 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:10400554G>A uc003bvt.2 - 14 2396 c.1957C>T c.(1957-1959)CGG>TGG p.R653W ATP2B2_uc003bvv.2_Missense_Mutation_p.R608W|ATP2B2_uc003bvw.2_Missense_Mutation_p.R608W|ATP2B2_uc010hdo.2_Missense_Mutation_p.R358W NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 653 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ATCTCGTCCCGGTCGCGGGGC 0.637 5 52 --- --- --- --- PASS FBLN2 2199 broad.mit.edu 37 3 13611931 13611931 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:13611931G>T uc011avb.1 + 2 201 c.76G>T c.(76-78)GCA>TCA p.A26S FBLN2_uc011auz.1_Missense_Mutation_p.A52S|FBLN2_uc011ava.1_Missense_Mutation_p.A26S|FBLN2_uc011avc.1_Missense_Mutation_p.A26S NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 26 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CAGCGTGGCCGCAGCTGCCCC 0.721 4 6 --- --- --- --- PASS NR2C2 7182 broad.mit.edu 37 3 15064835 15064835 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:15064835G>T uc003bzj.3 + 6 902 c.685G>T c.(685-687)GCA>TCA p.A229S NR2C2_uc003bzi.2_Missense_Mutation_p.A248S NM_003298 NP_003289 P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 229 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding 0 CACGTTTGTGGCAGACAAAGA 0.507 4 136 --- --- --- --- PASS LRRC3B 116135 broad.mit.edu 37 3 26751354 26751354 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:26751354C>A uc003cdp.2 + 2 780 c.191C>A c.(190-192)CCT>CAT p.P64H LRRC3B_uc003cdq.2_Missense_Mutation_p.P64H NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 64 LRRNT. integral to membrane pancreas(2)|ovary(1)|skin(1) 4 GATCTTCCTCCTGAAACAGTC 0.428 21 59 --- --- --- --- PASS USP19 10869 broad.mit.edu 37 3 49146522 49146522 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:49146522G>A uc003cwd.1 - 26 3987 c.3826C>T c.(3826-3828)CCC>TCC p.P1276S USP19_uc003cwa.2_Intron|USP19_uc003cvz.3_Intron|USP19_uc011bcg.1_Intron|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.P1034S|USP19_uc011bch.1_Missense_Mutation_p.P1377S NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 1276 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGTGGTAGGGGGCCCACCCAG 0.672 3 13 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77147370 77147370 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:77147370C>A uc003dpy.3 + 2 910 c.267C>A c.(265-267)TCC>TCA p.S89S ROBO2_uc003dpz.2_Silent_p.S89S|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.S89S NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 89 Ig-like C2-type 1.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCAGCGGATCCTTATTCTTCT 0.557 23 79 --- --- --- --- PASS GPR128 84873 broad.mit.edu 37 3 100378607 100378607 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:100378607C>A uc003duc.2 + 14 2167 c.1899C>A c.(1897-1899)ACC>ACA p.T633T GPR128_uc011bhc.1_Silent_p.T334T|GPR128_uc003dud.2_Silent_p.T156T NM_032787 NP_116176 Q96K78 GP128_HUMAN G protein-coupled receptor 128 precursor 633 Helical; Name=5; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(1) 4 TACCTGTAACCATTATCCTCA 0.403 20 72 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102183089 102183089 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:102183089T>A uc003dvs.1 + 14 1637 c.755T>A c.(754-756)TTC>TAC p.F252Y ZPLD1_uc003dvt.1_Missense_Mutation_p.F268Y|ZPLD1_uc011bhg.1_Missense_Mutation_p.F252Y NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 252 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TATGATCTTTTCCTTAGGTAA 0.318 25 97 --- --- --- --- PASS DRD3 1814 broad.mit.edu 37 3 113878657 113878657 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:113878657C>T uc003ebd.2 - 4 751 c.328G>A c.(328-330)GAT>AAT p.D110N DRD3_uc010hqn.1_Missense_Mutation_p.D110N|DRD3_uc003ebb.1_Missense_Mutation_p.D110N|DRD3_uc003ebc.1_Missense_Mutation_p.D110N NM_000796 NP_000787 P35462 DRD3_HUMAN dopamine receptor D3 isoform a 110 Helical; Name=3. Agonist. activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) ATCATGACATCCAGGGTGACA 0.502 61 107 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121228898 121228898 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:121228898C>A uc003eee.3 - 11 1933 c.1804G>T c.(1804-1806)GAT>TAT p.D602Y NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 602 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TCTGTTCCATCACTGGCTTCT 0.408 DNA_polymerases_(catalytic_subunits) 39 108 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140251217 140251217 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:140251217G>A uc003etn.2 + 9 1586 c.1396G>A c.(1396-1398)GTA>ATA p.V466I CLSTN2_uc003etm.2_Missense_Mutation_p.V466I NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 466 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 GTTTCCTGTGGTAACCTTATA 0.408 HNSCC(16;0.037) 14 118 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147113994 147113994 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:147113994G>T uc003ewd.1 - 3 606 c.333C>A c.(331-333)CAC>CAA p.H111Q ZIC4_uc003ewc.1_Missense_Mutation_p.H41Q|ZIC4_uc011bno.1_Missense_Mutation_p.H161Q NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 111 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CGCCAGGACCGTGGGGCGCAG 0.701 11 33 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128391 147128391 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:147128391G>T uc003ewe.2 + 1 1211 c.492G>T c.(490-492)AGG>AGT p.R164S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 164 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGCAGATGAGGCTCGGCTTCT 0.701 16 20 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147130402 147130402 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:147130402G>T uc003ewe.2 + 2 1799 c.1080G>T c.(1078-1080)AAG>AAT p.K360N NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 360 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 CGAGCGACAAGCCCTATCTTT 0.582 15 116 --- --- --- --- PASS CPA3 1359 broad.mit.edu 37 3 148596536 148596536 + Splice_Site SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:148596536G>T uc003ewm.2 + 5 526 c.474_splice c.e5+1 p.K158_splice NM_001870 NP_001861 P15088 CBPA3_HUMAN carboxypeptidase A3 precursor proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding breast(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGTTCTGAAGGTAAAAATAAC 0.308 27 71 --- --- --- --- PASS PHC3 80012 broad.mit.edu 37 3 169847268 169847268 + Missense_Mutation SNP T G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:169847268T>G uc010hws.1 - 8 1020 c.956A>C c.(955-957)AAA>ACA p.K319T PHC3_uc003fgl.2_Missense_Mutation_p.K331T|PHC3_uc011bpq.1_Missense_Mutation_p.K278T|PHC3_uc011bpr.1_Missense_Mutation_p.K245T NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 319 multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATGGGAAACTTTGGAAGGTGG 0.408 58 141 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183696311 183696311 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:183696311A>T uc003fmg.2 - 9 1441 c.1276T>A c.(1276-1278)TTC>ATC p.F426I ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.F426I NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 426 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTCAGATCGAAGCCCAGGGTC 0.443 21 75 --- --- --- --- PASS CLDN1 9076 broad.mit.edu 37 3 190039968 190039968 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr3:190039968C>G uc003fsh.2 - 1 248 c.28G>C c.(28-30)GGC>CGC p.G10R NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 10 Helical; (Potential). calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) AGAATGAAGCCCAACAGCTGC 0.657 13 48 --- --- --- --- PASS AMBN 258 broad.mit.edu 37 4 71472446 71472446 + Nonstop_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr4:71472446G>C uc003hfl.2 + 13 1418 c.1343G>C c.(1342-1344)TGA>TCA p.*448S NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 448 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) CAAGAGCCCTGACAGCTCTAA 0.483 22 25 --- --- --- --- PASS ANTXR2 118429 broad.mit.edu 37 4 80990634 80990634 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr4:80990634C>T uc003hlz.3 - 3 1015 c.252G>A c.(250-252)GTG>GTA p.V84V ANTXR2_uc003hly.3_Silent_p.V84V|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Silent_p.V84V NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 84 Extracellular (Potential).|VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 GAGAAGAAAACACAATGAAAG 0.313 Juvenile_Hyaline_Fibromatosis 5 10 --- --- --- --- PASS MAPK10 5602 broad.mit.edu 37 4 86988994 86988994 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr4:86988994C>A uc003hpq.2 - 9 984 c.917G>T c.(916-918)GGA>GTA p.G306V MAPK10_uc010ikg.2_Missense_Mutation_p.G268V|MAPK10_uc003hpr.2_Missense_Mutation_p.G268V|MAPK10_uc003hps.2_Missense_Mutation_p.G306V|MAPK10_uc003hpt.2_Missense_Mutation_p.G306V|MAPK10_uc003hpu.2_Missense_Mutation_p.G306V|MAPK10_uc003hpv.2_Missense_Mutation_p.G161V|MAPK10_uc003hpn.2_Missense_Mutation_p.G54V|MAPK10_uc003hpo.2_Missense_Mutation_p.G161V|MAPK10_uc011ccw.1_Missense_Mutation_p.G192V|MAPK10_uc003hpp.2_Missense_Mutation_p.G161V NM_138982 NP_620448 P53779 MK10_HUMAN mitogen-activated protein kinase 10 isoform 2 306 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding stomach(1)|breast(1)|central_nervous_system(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) GAAGGTGAGTCCCGCATACTT 0.458 22 36 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114277038 114277038 + Missense_Mutation SNP A C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr4:114277038A>C uc003ibe.3 + 38 7364 c.7264A>C c.(7264-7266)AGC>CGC p.S2422R ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S2437R NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2389 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGAAGTCCTCAGCGCTGTGGC 0.483 9 55 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32101331 32101331 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:32101331A>G uc003jhl.2 + 24 8727 c.8339A>G c.(8338-8340)AAA>AGA p.K2780R PDZD2_uc003jhm.2_Missense_Mutation_p.K2780R|PDZD2_uc003jhn.2_RNA NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2780 PDZ 6. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TTGGTCATTAAAAGAGTGTAC 0.468 15 32 --- --- --- --- PASS MTMR12 54545 broad.mit.edu 37 5 32274181 32274181 + Nonsense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:32274181C>A uc003jhq.2 - 3 360 c.190G>T c.(190-192)GAA>TAA p.E64* MTMR12_uc010iuk.2_Nonsense_Mutation_p.E64*|MTMR12_uc010iul.2_Nonsense_Mutation_p.E64* NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 64 cytoplasm phosphatase activity ovary(1) 1 CAGGAATCTTCCTGGACATAC 0.458 35 105 --- --- --- --- PASS CAPSL 133690 broad.mit.edu 37 5 35921196 35921196 + Silent SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:35921196T>A uc003jjt.1 - 2 122 c.27A>T c.(25-27)CGA>CGT p.R9R CAPSL_uc003jju.1_Silent_p.R9R NM_001042625 NP_001036090 Q8WWF8 CAPSL_HUMAN calcyphosine-like 9 cytoplasm calcium ion binding skin(1) 1 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TCGCCATCTCTCGGTCATGGC 0.612 19 45 --- --- --- --- PASS IL31RA 133396 broad.mit.edu 37 5 55195757 55195757 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:55195757C>A uc003jql.2 + 8 931 c.866C>A c.(865-867)GCC>GAC p.A289D IL31RA_uc003jqk.2_Missense_Mutation_p.A289D|IL31RA_uc011cqj.1_Missense_Mutation_p.A147D|IL31RA_uc003jqm.2_Missense_Mutation_p.A257D|IL31RA_uc003jqn.2_Missense_Mutation_p.A289D|IL31RA_uc010iwa.1_Missense_Mutation_p.A257D|IL31RA_uc003jqo.2_Missense_Mutation_p.A147D NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 257 Extracellular (Potential).|Fibronectin type-III 3. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GCAAGAGGAGCCCCAGTCCTA 0.433 12 64 --- --- --- --- PASS DEPDC1B 55789 broad.mit.edu 37 5 59893658 59893658 + Silent SNP T C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:59893658T>C uc003jsh.2 - 11 1585 c.1512A>G c.(1510-1512)AAA>AAG p.K504K DEPDC1B_uc011cqm.1_Silent_p.K442K|DEPDC1B_uc011cqn.1_Silent_p.K415K NM_018369 NP_060839 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B isoform 1 504 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1) 1 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) GTGGTTTCGGTTTGGGTTTTT 0.388 3 126 --- --- --- --- PASS ERBB2IP 55914 broad.mit.edu 37 5 65344565 65344565 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:65344565C>T uc003juk.1 + 19 2167 c.1859C>T c.(1858-1860)TCT>TTT p.S620F ERBB2IP_uc003juh.1_Missense_Mutation_p.S616F|ERBB2IP_uc003jui.1_Missense_Mutation_p.S620F|ERBB2IP_uc003juj.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqx.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqy.1_Missense_Mutation_p.S620F|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.S616F|ERBB2IP_uc003jul.1_Missense_Mutation_p.S616F NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 620 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) ATTGAAACCTCTATTAACCAG 0.353 9 55 --- --- --- --- PASS TTC37 9652 broad.mit.edu 37 5 94848321 94848321 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:94848321G>A uc003klb.2 - 28 3050 c.2780C>T c.(2779-2781)ACT>ATT p.T927I NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 927 binding ovary(3)|pancreas(1) 4 TGCTCCTTCAGTCTTTAAAAA 0.333 13 62 --- --- --- --- PASS COMMD10 51397 broad.mit.edu 37 5 115628185 115628185 + Silent SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:115628185G>A uc003krt.1 + 7 631 c.608G>A c.(607-609)TGA>TAA p.*203* NM_016144 NP_057228 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 203 protein binding ovary(1) 1 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) TCCCTTACATGATGTTTTCGA 0.373 23 94 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132269995 132269995 + Silent SNP A C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:132269995A>C uc003kyd.2 - 3 1170 c.762T>G c.(760-762)ACT>ACG p.T254T AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Silent_p.T254T|AFF4_uc003kyf.3_Silent_p.T254T NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 254 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GCACATAGGCAGTGGGTTTCT 0.502 17 122 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132269996 132269996 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:132269996G>A uc003kyd.2 - 3 1169 c.761C>T c.(760-762)ACT>ATT p.T254I AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.T254I|AFF4_uc003kyf.3_Missense_Mutation_p.T254I NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 254 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACATAGGCAGTGGGTTTCTG 0.507 16 123 --- --- --- --- PASS FAM13B 51306 broad.mit.edu 37 5 137284746 137284746 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:137284746G>T uc003lbz.2 - 17 2526 c.1992C>A c.(1990-1992)GTC>GTA p.V664V FAM13B_uc003lcb.2_Silent_p.V568V|FAM13B_uc003lca.2_Silent_p.V664V NM_016603 NP_057687 Q9NYF5 FA13B_HUMAN hypothetical protein LOC51306 isoform 1 664 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CCTTCTGAATGACCTTGGGTT 0.383 4 142 --- --- --- --- PASS PCDHA4 56144 broad.mit.edu 37 5 140188054 140188054 + Nonsense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140188054C>T uc003lhi.2 + 1 1383 c.1282C>T c.(1282-1284)CGA>TGA p.R428* PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Nonsense_Mutation_p.R428*|PCDHA4_uc011daa.1_Nonsense_Mutation_p.R428* NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGACCGCGCGAGACGGGGG 0.622 36 122 --- --- --- --- PASS PCDHA7 56141 broad.mit.edu 37 5 140215252 140215252 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140215252G>T uc003lhq.2 + 1 1284 c.1284G>T c.(1282-1284)CGG>CGT p.R428R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.R428R NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 428 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCGCGCGGGACGGGGGCT 0.622 35 159 --- --- --- --- PASS PCDHB12 56124 broad.mit.edu 37 5 140590315 140590315 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140590315C>T uc003liz.2 + 1 2025 c.1836C>T c.(1834-1836)CCC>CCT p.P612P PCDHB12_uc011dak.1_Silent_p.P275P NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 612 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACGGAGCCCGGGCTATTCG 0.701 12 139 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720255 140720255 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140720255A>T uc003ljk.1 + 1 1902 c.1717A>T c.(1717-1719)ACT>TCT p.T573S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.T573S NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 573 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACGGTTCCACTGGCGTGGA 0.627 42 154 --- --- --- --- PASS PCDHGB7 56099 broad.mit.edu 37 5 140799073 140799073 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140799073C>T uc003lkn.1 + 1 1792 c.1647C>T c.(1645-1647)CGC>CGT p.R549R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Silent_p.R549R|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 549 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCCTGCGCGTGTTGGTGG 0.726 6 50 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140801878 140801878 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140801878C>T uc003lkq.1 + 1 1342 c.1084C>T c.(1084-1086)CCT>TCT p.P362S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.P362S|PCDHGA11_uc003lkp.1_Missense_Mutation_p.P362S NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 362 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAAACTCTCCTCCAGGTAC 0.388 6 33 --- --- --- --- PASS PCDHGA12 26025 broad.mit.edu 37 5 140812405 140812405 + Silent SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:140812405G>C uc003lkt.1 + 1 2248 c.2079G>C c.(2077-2079)CTG>CTC p.L693L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.L693L NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 693 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGTACCTGGTGGTAGCGG 0.652 32 147 --- --- --- --- PASS NDST1 3340 broad.mit.edu 37 5 149907838 149907838 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:149907838G>T uc003lsk.3 + 3 1488 c.986G>T c.(985-987)CGC>CTC p.R329L NDST1_uc011dcj.1_Missense_Mutation_p.R329L|NDST1_uc003lsl.2_Missense_Mutation_p.R329L NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 329 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGGGCACACGCATGAAGGTG 0.632 19 59 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154397042 154397042 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:154397042C>T uc010jih.1 + 1 3783 c.3623C>T c.(3622-3624)CCA>CTA p.P1208L NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1208 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AATAAGCCTCCAGGGAAGAAA 0.507 11 31 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156590131 156590131 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:156590131G>T uc003lwn.2 - 2 1245 c.1145C>A c.(1144-1146)ACC>AAC p.T382N NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 382 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACACTTGCTGGTCGTAATACT 0.572 15 55 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156590133 156590133 + Silent SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:156590133C>G uc003lwn.2 - 2 1243 c.1143G>C c.(1141-1143)ACG>ACC p.T381T NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 381 nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTTGCTGGTCGTAATACTGC 0.572 17 55 --- --- --- --- PASS FAM71B 153745 broad.mit.edu 37 5 156590401 156590401 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:156590401G>T uc003lwn.2 - 2 975 c.875C>A c.(874-876)GCA>GAA p.A292E NM_130899 NP_570969 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 292 Ala-rich. nucleus ovary(4)|pancreas(1)|skin(1) 6 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCACCTGTTGCAGGACTCAT 0.537 37 138 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168201328 168201328 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:168201328G>C uc003mab.2 - 13 1627 c.1207C>G c.(1207-1209)CAG>GAG p.Q403E SLIT3_uc010jjg.2_Missense_Mutation_p.Q403E|SLIT3_uc010jji.2_Missense_Mutation_p.Q403E|SLIT3_uc003mac.1_Missense_Mutation_p.Q200E NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 403 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGAGGTTCTGCAGGTCCTGA 0.517 64 211 --- --- --- --- PASS ERGIC1 57222 broad.mit.edu 37 5 172351073 172351073 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr5:172351073G>T uc003mbw.3 + 6 635 c.441G>T c.(439-441)ACG>ACT p.T147T ERGIC1_uc003mby.3_Silent_p.T55T|ERGIC1_uc011dfa.1_Silent_p.T92T NM_001031711 NP_001026881 Q969X5 ERGI1_HUMAN endoplasmic reticulum-golgi intermediate 147 Lumenal (Potential). ER to Golgi vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGACATGACGCATGTCATCC 0.602 5 30 --- --- --- --- PASS SYNGAP1 8831 broad.mit.edu 37 6 33403080 33403080 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:33403080G>A uc011dri.1 + 6 856 c.661G>A c.(661-663)GAG>AAG p.E221K SYNGAP1_uc003oeo.1_Missense_Mutation_p.E206K|SYNGAP1_uc010juy.2_Missense_Mutation_p.E206K|SYNGAP1_uc010juz.2_5'Flank NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 221 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 GTTCTGTTTTGAGGTACTGGG 0.562 35 31 --- --- --- --- PASS DEF6 50619 broad.mit.edu 37 6 35278241 35278241 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:35278241G>T uc003okk.2 + 3 282 c.243G>T c.(241-243)GAG>GAT p.E81D DEF6_uc010jvs.2_Missense_Mutation_p.E81D|DEF6_uc010jvt.2_Translation_Start_Site NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 81 cytoplasm|nucleus|plasma membrane 0 GGCAGGTGGAGGAGGGGGCTT 0.542 25 40 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69349089 69349089 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:69349089G>T uc003pev.3 + 3 970 c.522G>T c.(520-522)TGG>TGT p.W174C BAI3_uc010kak.2_Missense_Mutation_p.W174C NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 174 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TATGTACTTGGTTGGAGAGCT 0.418 44 44 --- --- --- --- PASS KPNA5 3841 broad.mit.edu 37 6 117037477 117037477 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:117037477G>T uc003pxh.2 + 8 883 c.752G>T c.(751-753)AGT>ATT p.S251I NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 248 ARM 5. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) CCAAACTTTAGTAAGGTATGA 0.328 27 33 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117248301 117248301 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:117248301C>T uc003pxm.2 + 17 2060 c.1997C>T c.(1996-1998)CCA>CTA p.P666L NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 666 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GGGAGGCCCCCAAGTGTGGGC 0.527 59 90 --- --- --- --- PASS NCOA7 135112 broad.mit.edu 37 6 126176353 126176353 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr6:126176353A>G uc010kes.2 + 5 687 c.238A>G c.(238-240)AGG>GGG p.R80G NCOA7_uc003qae.3_Missense_Mutation_p.R80G|NCOA7_uc003qah.2_Missense_Mutation_p.R80G|NCOA7_uc003qai.2_Missense_Mutation_p.R80G|NCOA7_uc010ket.2_Intron|NCOA7_uc003qaf.2_Missense_Mutation_p.R80G|NCOA7_uc003qag.2_Missense_Mutation_p.R80G|NCOA7_uc003qaj.2_Missense_Mutation_p.R80G NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 80 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) AAAGGAGATCAGGCGTACAGA 0.313 3 160 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31617997 31617997 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr7:31617997G>C uc003tcj.1 + 8 2112 c.1119G>C c.(1117-1119)AAG>AAC p.K373N CCDC129_uc011kad.1_Missense_Mutation_p.K383N|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.K399N|CCDC129_uc003tck.1_Missense_Mutation_p.K281N NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 373 0 ACAAGCTCAAGAGCTTGTCTC 0.498 20 72 --- --- --- --- PASS BMPER 168667 broad.mit.edu 37 7 34182925 34182925 + Missense_Mutation SNP A C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr7:34182925A>C uc011kap.1 + 14 1943 c.1829A>C c.(1828-1830)CAG>CCG p.Q610P NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 610 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 CGGGCCTGCCAGAGAGAGGGC 0.473 54 86 --- --- --- --- PASS CACNA2D1 781 broad.mit.edu 37 7 81667449 81667449 + Missense_Mutation SNP T C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr7:81667449T>C uc003uhr.1 - 11 1238 c.982A>G c.(982-984)AAA>GAA p.K328E NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 328 Extracellular (Potential).|VWFA. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) gtaattcctttggctGTGATA 0.294 39 64 --- --- --- --- PASS POT1 25913 broad.mit.edu 37 7 124499166 124499166 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr7:124499166C>A uc003vlm.2 - 9 1148 c.547G>T c.(547-549)GTA>TTA p.V183L POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.V52L|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 183 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 CCATCCCATACCTGCCATAAG 0.353 18 20 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143747807 143747807 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr7:143747807A>G uc011ktw.1 + 1 313 c.313A>G c.(313-315)ATG>GTG p.M105V NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) CTTTTTATACATGGCTTTTGC 0.438 18 129 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10464903 10464903 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:10464903C>T uc003wtc.2 - 4 6934 c.6705G>A c.(6703-6705)GGG>GGA p.G2235G NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2235 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GCTGGGCCTCCCCTTCAGCCT 0.592 23 118 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25234906 25234906 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:25234906A>G uc003xeg.2 + 38 4039 c.3902A>G c.(3901-3903)TAT>TGT p.Y1301C PPP2R2A_uc003xek.2_Missense_Mutation_p.Y90C|DOCK5_uc003xei.2_Missense_Mutation_p.Y871C|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1301 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAGAAGCTGTATCAAGAAATC 0.378 7 37 --- --- --- --- PASS NOV 4856 broad.mit.edu 37 8 120435214 120435214 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:120435214A>G uc003yoq.2 + 5 1137 c.916A>G c.(916-918)ACC>GCC p.T306A NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 306 CTCK. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCCCACAATACCAAAACCAT 0.552 18 107 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125083789 125083789 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:125083789G>C uc003yqw.2 + 31 4215 c.4009G>C c.(4009-4011)GAG>CAG p.E1337Q uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1337 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTCTAGCTCTGAGGACAGCGG 0.512 9 61 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140630959 140630959 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:140630959A>T uc003yvf.1 - 2 731 c.667T>A c.(667-669)TTT>ATT p.F223I KCNK9_uc003yvg.1_Missense_Mutation_p.F223I|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 223 Helical; (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ATAAAGCTAAAGGCCACGTAG 0.562 9 67 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143958589 143958589 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr8:143958589G>T uc003yxi.2 - 3 452 c.445C>A c.(445-447)CTG>ATG p.L149M CYP11B1_uc010mex.2_5'Flank|CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.L149M|CYP11B1_uc010mey.2_Missense_Mutation_p.L220M NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 149 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TTGGGCGACAGCACTTCTGGA 0.627 Familial_Hyperaldosteronism_type_I 4 40 --- --- --- --- PASS TPD52L3 89882 broad.mit.edu 37 9 6328676 6328676 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr9:6328676C>T uc003zjw.2 + 1 302 c.81C>T c.(79-81)CCC>CCT p.P27P TPD52L3_uc003zjv.2_Silent_p.P27P|TPD52L3_uc003zjx.1_Silent_p.P27P NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 27 protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) TGACAGAGCCCGAGCAAAGAG 0.502 39 85 --- --- --- --- PASS KIAA1045 23349 broad.mit.edu 37 9 34971600 34971600 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr9:34971600C>A uc003zvq.2 + 2 483 c.305C>A c.(304-306)CCT>CAT p.P102H KIAA1045_uc003zvr.2_Missense_Mutation_p.P102H NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 102 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TTCACACCCCCTGCGTTCATC 0.612 65 103 --- --- --- --- PASS C9orf3 84909 broad.mit.edu 37 9 97522149 97522149 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr9:97522149G>T uc004ava.2 + 1 219 c.84G>T c.(82-84)CTG>CTT p.L28L C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Silent_p.L28L|C9orf3_uc004auy.2_Silent_p.L28L|C9orf3_uc004auz.1_Silent_p.L28L NM_032823 NP_116212 Q8N6M6 AMPO_HUMAN aminopeptidase O 28 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.000275) ACTATGTACTGGATTTGGATG 0.448 19 34 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17157565 17157565 + Nonsense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:17157565G>A uc001ioo.2 - 7 677 c.625C>T c.(625-627)CAG>TAG p.Q209* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 209 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GATGCACACTGGGGTCCGTAC 0.537 21 73 --- --- --- --- PASS ZNF239 8187 broad.mit.edu 37 10 44052638 44052638 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:44052638C>A uc001jaw.3 - 2 1543 c.890G>T c.(889-891)GGG>GTG p.G297V ZNF239_uc001jax.3_Missense_Mutation_p.G297V|ZNF239_uc009xmj.2_Missense_Mutation_p.G297V|ZNF239_uc009xmk.2_Missense_Mutation_p.G297V NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 297 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 AAAGCCCTTCCCACACTTGTC 0.507 28 115 --- --- --- --- PASS KIAA1279 26128 broad.mit.edu 37 10 70748591 70748591 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:70748591G>T uc001joy.2 + 1 99 c.3G>T c.(1-3)ATG>ATT p.M1I NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 1 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 AGGCCGCTATGGCGAACGTTC 0.562 OREG0020215 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 41 --- --- --- --- PASS OIT3 170392 broad.mit.edu 37 10 74690336 74690336 + Missense_Mutation SNP G A A rs149032084 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:74690336G>A uc001jte.1 + 8 1626 c.1408G>A c.(1408-1410)GAT>AAT p.D470N OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 470 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) CACATCCCGGGATCACCTAGC 0.443 56 201 --- --- --- --- PASS XPNPEP1 7511 broad.mit.edu 37 10 111630550 111630550 + Silent SNP G A A rs143796899 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:111630550G>A uc001kyp.1 - 18 1646 c.1506C>T c.(1504-1506)TGC>TGT p.C502C XPNPEP1_uc009xxt.1_Silent_p.C521C|XPNPEP1_uc001kyq.1_Silent_p.C431C NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 502 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACTGATGCCGCAAGGACCCT 0.498 4 128 --- --- --- --- PASS PNLIPRP2 5408 broad.mit.edu 37 10 118389530 118389530 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:118389530G>T uc001lcq.2 + 9 680 c.657G>T c.(655-657)GTG>GTT p.V219V PNLIPRP2_uc009xyu.1_RNA|PNLIPRP2_uc009xyv.1_RNA NM_005396 NP_005387 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 218 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) CCGTGTTTGTGGATGTGATTC 0.537 5 22 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124708324 124708324 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:124708324C>A uc001lgw.2 - 4 714 c.489G>T c.(487-489)GTG>GTT p.V163V C10orf88_uc001lgx.2_Silent_p.V65V NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 163 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) TCATGTGTACCACAACTTTAC 0.373 12 68 --- --- --- --- PASS C10orf88 80007 broad.mit.edu 37 10 124708325 124708325 + Missense_Mutation SNP A C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:124708325A>C uc001lgw.2 - 4 713 c.488T>G c.(487-489)GTG>GGG p.V163G C10orf88_uc001lgx.2_Missense_Mutation_p.V65G NM_024942 NP_079218 Q9H8K7 CJ088_HUMAN hypothetical protein LOC80007 163 0 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) CATGTGTACCACAACTTTACT 0.368 13 68 --- --- --- --- PASS FAM196A 642938 broad.mit.edu 37 10 128973730 128973730 + Silent SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr10:128973730C>G uc001lju.1 - 1 971 c.930G>C c.(928-930)CCG>CCC p.P310P DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.P310P|FAM196A_uc001ljv.1_Silent_p.P310P|FAM196A_uc009yap.1_Silent_p.P310P NM_001039762 NP_001034851 Q6ZSG2 F196A_HUMAN hypothetical protein LOC642938 310 ovary(2) 2 GGCACTGCATCGGGGGTGAGC 0.672 25 78 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1021225 1021225 + Silent SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:1021225G>A uc001lsw.2 - 27 3630 c.3579C>T c.(3577-3579)TGC>TGT p.C1193C NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1193 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGCAGGGCACGCACACCCCCT 0.632 8 19 --- --- --- --- PASS MRGPRE 116534 broad.mit.edu 37 11 3249654 3249654 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:3249654G>A uc001lxq.3 - 2 683 c.373C>T c.(373-375)CTC>TTC p.L125F NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 125 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGGGAAGAGGGCGGCCAGG 0.687 8 17 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221315 5221315 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:5221315A>T uc010qyz.1 - 1 616 c.616T>A c.(616-618)TAC>AAC p.Y206N NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGCATAGTAACTATTGAAT 0.423 18 75 --- --- --- --- PASS OR52E8 390079 broad.mit.edu 37 11 5878717 5878717 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:5878717C>A uc010qzr.1 - 1 216 c.216G>T c.(214-216)TTG>TTT p.L72F TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAATGGAATCCAACATGGCCA 0.468 39 152 --- --- --- --- PASS ILK 3611 broad.mit.edu 37 11 6631392 6631392 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:6631392G>T uc001mee.2 + 12 1227 c.1092G>T c.(1090-1092)AAG>AAT p.K364N ILK_uc001mef.2_Missense_Mutation_p.K364N|ILK_uc010rap.1_Missense_Mutation_p.K230N|ILK_uc010raq.1_Missense_Mutation_p.K303N|ILK_uc001meg.2_Missense_Mutation_p.K210N|ILK_uc001meh.2_Missense_Mutation_p.K364N|ILK_uc001mei.2_5'UTR NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 364 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) TGCAGAAGAAGCCTGAAGACA 0.532 36 77 --- --- --- --- PASS ILK 3611 broad.mit.edu 37 11 6631393 6631393 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:6631393C>A uc001mee.2 + 12 1228 c.1093C>A c.(1093-1095)CCT>ACT p.P365T ILK_uc001mef.2_Missense_Mutation_p.P365T|ILK_uc010rap.1_Missense_Mutation_p.P231T|ILK_uc010raq.1_Missense_Mutation_p.P304T|ILK_uc001meg.2_Missense_Mutation_p.P211T|ILK_uc001meh.2_Missense_Mutation_p.P365T|ILK_uc001mei.2_5'UTR NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 365 Protein kinase. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GCAGAAGAAGCCTGAAGACAC 0.527 37 76 --- --- --- --- PASS OR10A3 26496 broad.mit.edu 37 11 7960135 7960135 + Silent SNP T C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:7960135T>C uc010rbi.1 - 1 933 c.933A>G c.(931-933)TTA>TTG p.L311L NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGAATGTGTGTAAAATCACTT 0.383 8 47 --- --- --- --- PASS RRAS2 22800 broad.mit.edu 37 11 14316390 14316390 + Missense_Mutation SNP T A A rs113954997 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:14316390T>A uc001mlf.3 - 3 528 c.215A>T c.(214-216)CAA>CTA p.Q72L RRAS2_uc009ygq.2_5'UTR|RRAS2_uc010rco.1_Missense_Mutation_p.Q78L NM_012250 NP_036382 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 72 GTP (By similarity). Q -> L (in an ovarian cancer sample; somatic mutation). endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(1) 1 Epithelial(150;0.203) AAACTCTTCTTGTCCTGCTGT 0.393 406 131 --- --- --- --- PASS LRRC4C 57689 broad.mit.edu 37 11 40137376 40137376 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:40137376C>T uc001mxa.1 - 2 2431 c.467G>A c.(466-468)CGA>CAA p.R156Q LRRC4C_uc001mxc.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxd.1_Missense_Mutation_p.R152Q|LRRC4C_uc001mxb.1_Missense_Mutation_p.R152Q NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 156 LRR 4. 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) GGGGTTGTTTCGCAACCAGAG 0.428 32 41 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515501 51515501 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:51515501G>T uc010ric.1 + 1 220 c.220G>T c.(220-222)GTC>TTC p.V74F NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 74 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CTATTCCTCTGTCAATACCCC 0.483 39 214 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419064 55419064 + Nonsense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:55419064G>T uc001nhs.1 + 1 685 c.685G>T c.(685-687)GAA>TAA p.E229* NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GCAGTCAGCAGAAGGCAGGCG 0.502 44 34 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904844 55904844 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:55904844C>A uc010riz.1 - 1 351 c.351G>T c.(349-351)GTG>GTT p.V117V NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CATAGGCCATCACAGCCAGCA 0.488 72 118 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230220 56230220 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:56230220C>A uc010rjj.1 - 1 658 c.658G>T c.(658-660)GTA>TTA p.V220L NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ACAGCTACTACAATGAGAGTG 0.498 9 19 --- --- --- --- PASS OR5AP2 338675 broad.mit.edu 37 11 56409790 56409790 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:56409790C>A uc001njb.1 - 1 126 c.126G>T c.(124-126)ATG>ATT p.M42I NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 CCATGTTTGCCATATAGATCA 0.403 27 85 --- --- --- --- PASS OR9G4 283189 broad.mit.edu 37 11 56510447 56510447 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:56510447A>G uc010rjo.1 - 1 841 c.841T>C c.(841-843)TAC>CAC p.Y281H NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 281 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TCTAGGGAGTAGGTGGAACTA 0.458 38 108 --- --- --- --- PASS MPEG1 219972 broad.mit.edu 37 11 58978773 58978773 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:58978773G>T uc001nnu.3 - 1 1722 c.1566C>A c.(1564-1566)AGC>AGA p.S522R NM_001039396 NP_001034485 Q2M385 MPEG1_HUMAN macrophage expressed gene 1 precursor 522 Extracellular (Potential). integral to membrane ovary(1)|skin(1) 2 all_epithelial(135;0.125) CCGCAAACCTGCTTCCCAACT 0.507 39 52 --- --- --- --- PASS TMEM151A 256472 broad.mit.edu 37 11 66061904 66061904 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:66061904C>T uc001ohl.2 + 2 299 c.187C>T c.(187-189)CGC>TGC p.R63C NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 63 Helical; (Potential). integral to membrane central_nervous_system(1) 1 GGCCTGGTGTCGCCTGGCCAC 0.741 4 71 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68201211 68201211 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:68201211A>T uc001ont.2 + 18 3980 c.3905A>T c.(3904-3906)CAG>CTG p.Q1302L LRP5_uc009ysg.2_Missense_Mutation_p.Q712L NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 1302 LDL-receptor class A 2.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 TCCGCCGCCCAGTTCCCCTGC 0.701 268 120 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70189989 70189989 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:70189989A>T uc001opo.2 + 15 2120 c.1922A>T c.(1921-1923)AAA>ATA p.K641I PPFIA1_uc001opn.1_Missense_Mutation_p.K641I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 641 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GCCATCAACAAAGAGATCAGG 0.537 8 27 --- --- --- --- PASS CASP5 838 broad.mit.edu 37 11 104879648 104879648 + Nonsense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:104879648G>A uc010rva.1 - 2 99 c.67C>T c.(67-69)CAG>TAG p.Q23* CASP5_uc010ruz.1_Nonsense_Mutation_p.Q36*|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 23 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AATCCACTCTGAAGGATACCT 0.398 35 46 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120345304 120345304 + Silent SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr11:120345304A>G uc001pxl.1 + 32 3076 c.3069A>G c.(3067-3069)GAA>GAG p.E1023E ARHGEF12_uc009zat.2_Silent_p.E1004E|ARHGEF12_uc010rzn.1_Silent_p.E920E|ARHGEF12_uc009zau.1_Silent_p.E920E NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1023 PH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TGATTCATGAAGGGCCATTGG 0.343 T MLL AML 37 51 --- --- --- --- PASS VWF 7450 broad.mit.edu 37 12 6132840 6132840 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:6132840G>T uc001qnn.1 - 25 3586 c.3336C>A c.(3334-3336)GCC>GCA p.A1112A VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1112 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) TGCCATGCTGGGCACACACGT 0.567 25 77 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9349036 9349036 + Splice_Site SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:9349036C>T uc001qvl.2 - 10 1012 c.983_splice c.e10-1 p.D328_splice PZP_uc009zgl.2_Splice_Site_p.D197_splice NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 ACTTCCAGGTCTGAAAAATAT 0.318 16 38 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21207473 21207473 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:21207473G>T uc010sin.1 + 10 1444 c.1444G>T c.(1444-1446)GCT>TCT p.A482S SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.A529S NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 482 membrane transporter activity 0 AAGAGATGATGCTTGTACAAG 0.378 27 49 --- --- --- --- PASS SYT10 341359 broad.mit.edu 37 12 33579085 33579085 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:33579085G>T uc001rll.1 - 2 794 c.497C>A c.(496-498)ACG>AAG p.T166K SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 166 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GGTTGATGACGTAGGCTCAGT 0.284 72 164 --- --- --- --- PASS SP1 6667 broad.mit.edu 37 12 53776695 53776695 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:53776695A>T uc001scw.2 + 3 1061 c.964A>T c.(964-966)ACC>TCC p.T322S SP1_uc010sog.1_Missense_Mutation_p.T315S NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 322 Transactivation domain B (Gln-rich).|Ser/Thr-rich. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) CTCCTTTTTCACCAATGCCAA 0.502 21 131 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54903516 54903516 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:54903516G>T uc001sgc.3 + 6 649 c.570G>T c.(568-570)CTG>CTT p.L190L NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.L140L NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 190 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGAAGAAGCTGACAGAAGAGT 0.498 36 231 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57567680 57567680 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:57567680A>T uc001snd.2 + 22 3930 c.3464A>T c.(3463-3465)AAC>ATC p.N1155I NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1155 LDL-receptor class A 10.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTGCCAACAACACCTCAGTC 0.627 8 71 --- --- --- --- PASS SLC26A10 65012 broad.mit.edu 37 12 58017834 58017834 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:58017834C>A uc001spe.2 + 9 1491 c.1180C>A c.(1180-1182)CAG>AAG p.Q394K SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 394 integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) GGTGTTCTGCCAGATGCAGGA 0.542 29 151 --- --- --- --- PASS BEST3 144453 broad.mit.edu 37 12 70048997 70048997 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:70048997G>T uc001svg.2 - 10 1924 c.1697C>A c.(1696-1698)ACA>AAA p.T566K BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.T353K|BEST3_uc010stm.1_Missense_Mutation_p.T460K NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 566 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GGCTGAAACTGTCTGGGGACT 0.557 30 51 --- --- --- --- PASS UHRF1BP1L 23074 broad.mit.edu 37 12 100433449 100433449 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:100433449C>A uc001tgq.2 - 20 4429 c.4200G>T c.(4198-4200)CAG>CAT p.Q1400H UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.Q1050H NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1400 ovary(2) 2 CTGGGCTTGTCTGAGTGGCTT 0.453 30 57 --- --- --- --- PASS GLT8D2 83468 broad.mit.edu 37 12 104413419 104413419 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:104413419A>G uc001tkh.1 - 3 414 c.8T>C c.(7-9)CTG>CCG p.L3P GLT8D2_uc001tki.1_Missense_Mutation_p.L3P NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 3 Cytoplasmic (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 TTTTCGTAACAGAGCCATGTG 0.338 9 22 --- --- --- --- PASS DAO 1610 broad.mit.edu 37 12 109283249 109283249 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:109283249C>T uc001tnr.3 + 4 467 c.314C>T c.(313-315)CCT>CTT p.P105L DAO_uc001tnq.3_Intron|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA NM_001917 NP_001908 P14920 OXDA_HUMAN D-amino-acid oxidase 105 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity ovary(1)|skin(1) 2 CTTCAGGACCCTTCCTGGAAG 0.408 15 83 --- --- --- --- PASS CCDC63 160762 broad.mit.edu 37 12 111336867 111336867 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:111336867A>G uc001trv.1 + 10 1475 c.1280A>G c.(1279-1281)AAG>AGG p.K427R CCDC63_uc010sye.1_Missense_Mutation_p.K387R|CCDC63_uc001trw.1_Missense_Mutation_p.K342R NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 427 skin(6)|ovary(1)|pancreas(1) 8 GACGCCACCAAGATCCTGGTG 0.488 9 54 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117768451 117768451 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:117768451C>T uc001twm.1 - 2 1110 c.424G>A c.(424-426)GGC>AGC p.G142S NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 142 Interaction with NOSIP (By similarity). multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGTTCTTTGCCGGCCGGTGGC 0.662 19 60 --- --- --- --- PASS KNTC1 9735 broad.mit.edu 37 12 123099563 123099563 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:123099563G>A uc001ucv.2 + 56 6066 c.5903G>A c.(5902-5904)TGT>TAT p.C1968Y KNTC1_uc010taf.1_Missense_Mutation_p.C893Y NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 1968 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) ACTGAGCTGTGTTTAGAATAC 0.403 9 22 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124839417 124839417 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:124839417C>A uc010tba.1 - 25 3591 c.3474G>T c.(3472-3474)ATG>ATT p.M1158I NCOR2_uc010tay.1_Missense_Mutation_p.M1157I|NCOR2_uc010taz.1_Missense_Mutation_p.M1141I|NCOR2_uc010tbb.1_Missense_Mutation_p.M1150I|NCOR2_uc010tbc.1_Missense_Mutation_p.M1140I|NCOR2_uc001ugj.1_Missense_Mutation_p.M1158I NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1158 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGGCAGCCCCATGGTGACAG 0.677 17 46 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124839419 124839419 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr12:124839419T>A uc010tba.1 - 25 3589 c.3472A>T c.(3472-3474)ATG>TTG p.M1158L NCOR2_uc010tay.1_Missense_Mutation_p.M1157L|NCOR2_uc010taz.1_Missense_Mutation_p.M1141L|NCOR2_uc010tbb.1_Missense_Mutation_p.M1150L|NCOR2_uc010tbc.1_Missense_Mutation_p.M1140L|NCOR2_uc001ugj.1_Missense_Mutation_p.M1158L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1158 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGCAGCCCCATGGTGACAGGG 0.672 17 47 --- --- --- --- PASS ZMYM5 9205 broad.mit.edu 37 13 20426215 20426215 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr13:20426215C>A uc010tcn.1 - 3 371 c.106G>T c.(106-108)GGT>TGT p.G36C ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.G36C|ZMYM5_uc001umo.2_Missense_Mutation_p.G36C NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 36 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) GCTGGATGACCAAATGAATCC 0.373 38 168 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454735 84454735 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr13:84454735G>T uc001vlk.2 - 1 1794 c.908C>A c.(907-909)TCT>TAT p.S303Y NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 303 Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTTTGGAGCAGACCCTGGTGT 0.562 13 59 --- --- --- --- PASS SLITRK5 26050 broad.mit.edu 37 13 88327856 88327856 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr13:88327856C>A uc001vln.2 + 2 432 c.213C>A c.(211-213)ATC>ATA p.I71I SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 71 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GGGGGATCATCAGTCTCTCTG 0.448 60 176 --- --- --- --- PASS DCT 1638 broad.mit.edu 37 13 95095825 95095825 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr13:95095825C>T uc001vlv.3 - 7 1673 c.1246G>A c.(1246-1248)GCC>ACC p.A416T DCT_uc010afh.2_Missense_Mutation_p.A449T NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 416 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TGAGGCCAGGCATCTGCAGGA 0.428 8 48 --- --- --- --- PASS ERCC5 2073 broad.mit.edu 37 13 103460094 103460094 + Silent SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr13:103460094A>T uc001vpu.1 + 1 599 c.477A>T c.(475-477)TCA>TCT p.S159S BIVM_uc001vps.2_Silent_p.S159S|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Silent_p.S159S NM_000123 NP_000114 P28715 ERCC5_HUMAN XPG-complementing protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection nucleoplasm bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AACACAAATCAGGTAAGGAGG 0.378 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 6 31 --- --- --- --- PASS SLC7A7 9056 broad.mit.edu 37 14 23242900 23242900 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr14:23242900G>T uc001wgr.3 - 10 1593 c.1455C>A c.(1453-1455)GTC>GTA p.V485V SLC7A7_uc001wgs.3_Silent_p.V485V|SLC7A7_uc001wgt.3_Silent_p.V485V|SLC7A7_uc001wgu.3_Silent_p.V485V|SLC7A7_uc001wgv.3_Silent_p.V485V NM_003982 NP_003973 Q9UM01 YLAT1_HUMAN solute carrier family 7 member 7 485 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity ovary(1)|breast(1) 2 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) ACATACACAGGACCTGGAGGT 0.473 23 85 --- --- --- --- PASS DLGAP5 9787 broad.mit.edu 37 14 55636119 55636119 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr14:55636119G>T uc001xbs.2 - 12 1763 c.1546C>A c.(1546-1548)CAG>AAG p.Q516K DLGAP5_uc001xbt.2_Missense_Mutation_p.Q516K NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 516 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CCACATACCTGAAAACTAACC 0.269 36 83 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95058452 95058452 + Missense_Mutation SNP C A A rs150557947 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr14:95058452C>A uc001ydm.2 + 6 1307 c.1097C>A c.(1096-1098)ACG>AAG p.T366K SERPINA3_uc001ydo.3_5'UTR NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 366 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GCGGCAGCCACGGGGACAATA 0.567 110 273 --- --- --- --- PASS AK7 122481 broad.mit.edu 37 14 96909082 96909082 + Nonsense_Mutation SNP G T T rs114393353 by1000genomes TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr14:96909082G>T uc001yfn.2 + 7 750 c.706G>T c.(706-708)GAG>TAG p.E236* NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 236 Potential. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TTGGTTGGGCGAGATTCCTGC 0.448 43 196 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105419189 105419189 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr14:105419189C>T uc010axc.1 - 7 2719 c.2599G>A c.(2599-2601)GTG>ATG p.V867M AHNAK2_uc001ypx.2_Missense_Mutation_p.V767M NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 867 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGAGGCTCACGTCGGCCTCC 0.612 65 266 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29393969 29393969 + Silent SNP T C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr15:29393969T>C uc001zck.2 + 9 1713 c.1506T>C c.(1504-1506)CAT>CAC p.H502H APBA2_uc010azj.2_Silent_p.H490H|APBA2_uc010uat.1_Silent_p.H490H|APBA2_uc001zcl.2_Silent_p.H490H|APBA2_uc001zcm.1_Silent_p.H194H NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 502 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGATCTGCCATGTGTTCGAGT 0.612 9 22 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48777639 48777639 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr15:48777639G>C uc001zwx.1 - 30 3972 c.3644C>G c.(3643-3645)TCT>TGT p.S1215C NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1215 EGF-like 19; 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) GCTGCCTTCAGAGTTTGTGCA 0.388 25 91 --- --- --- --- PASS CCDC33 80125 broad.mit.edu 37 15 74559079 74559079 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr15:74559079C>T uc002axo.2 + 4 774 c.380C>T c.(379-381)CCC>CTC p.P127L CCDC33_uc002axp.2_5'UTR NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 330 protein binding ovary(3)|skin(2) 5 TACAAAATCCCCATCAAGTAC 0.493 24 136 --- --- --- --- PASS C15orf26 161502 broad.mit.edu 37 15 81436089 81436089 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr15:81436089C>T uc002bgb.2 + 5 591 c.564C>T c.(562-564)TCC>TCT p.S188S C15orf26_uc010blp.1_Silent_p.S163S NM_173528 NP_775799 Q6P656 CO026_HUMAN hypothetical protein LOC161502 188 0 ATGAGGTCTCCCATGTGAACT 0.537 38 127 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86259125 86259125 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr15:86259125C>T uc002blv.1 + 20 5876 c.5706C>T c.(5704-5706)TCC>TCT p.S1902S AKAP13_uc002blu.1_Silent_p.S1906S|AKAP13_uc010bnf.1_Silent_p.S523S|AKAP13_uc002blw.1_Silent_p.S369S|AKAP13_uc002blx.1_Silent_p.S147S NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 1902 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 TCTCGCTCTCCAAAAGTGTCT 0.478 21 69 --- --- --- --- PASS SOX8 30812 broad.mit.edu 37 16 1035307 1035307 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:1035307A>G uc002ckn.2 + 3 1377 c.1262A>G c.(1261-1263)AAC>AGC p.N421S NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 421 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) CCCCTGCTCAACGGCCTGGCC 0.716 6 12 --- --- --- --- PASS C16orf90 646174 broad.mit.edu 37 16 3544718 3544718 + Missense_Mutation SNP A T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:3544718A>T uc002cvi.2 - 2 206 c.206T>A c.(205-207)CTG>CAG p.L69Q NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN hypothetical protein LOC646174 59 0 GTGGCTCTCCAGGTAGAGGCC 0.726 8 16 --- --- --- --- PASS NKD1 85407 broad.mit.edu 37 16 50666270 50666270 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:50666270C>G uc002egg.1 + 9 998 c.774C>G c.(772-774)CAC>CAG p.H258Q NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 258 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GGAGAAACCACTACTTAGATC 0.577 11 36 --- --- --- --- PASS CCDC135 84229 broad.mit.edu 37 16 57762439 57762439 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:57762439C>A uc002emi.2 + 16 2423 c.2334C>A c.(2332-2334)AGC>AGA p.S778R CCDC135_uc002emj.2_Missense_Mutation_p.S778R|CCDC135_uc002emk.2_Missense_Mutation_p.S713R NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 778 cytoplasm central_nervous_system(1) 1 AGTGCCTCAGCGACTTCAAGC 0.592 10 29 --- --- --- --- PASS CLEC18C 283971 broad.mit.edu 37 16 70219866 70219866 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:70219866C>T uc002exy.2 + 12 1410 c.1290C>T c.(1288-1290)TAC>TAT p.Y430Y CLEC18C_uc010vlt.1_Silent_p.Y430Y|CLEC18C_uc002eyk.2_Silent_p.Y430Y NM_182619 NP_872425 Q8NCF0 CL18C_HUMAN secretory protein LOC348174 precursor 430 C-type lectin. extracellular region sugar binding 0 GAAACCGTTACATCTGCCAGT 0.587 17 72 --- --- --- --- PASS KCNG4 93107 broad.mit.edu 37 16 84270969 84270969 + Nonsense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr16:84270969G>T uc010voc.1 - 2 244 c.123C>A c.(121-123)TAC>TAA p.Y41* KCNG4_uc002fhu.1_Nonsense_Mutation_p.Y41* NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, 41 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3) 3 GCACCCTCCGGTAGTAAAGGC 0.632 16 52 --- --- --- --- PASS OR1D4 8385 broad.mit.edu 37 17 2966415 2966415 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:2966415G>T uc010vra.1 - 1 541 c.541C>A c.(541-543)CTG>ATG p.L181M NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 ACCCTGGTCAGGAGGAAGGTG 0.557 7 36 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7690250 7690250 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:7690250G>C uc002giu.1 + 41 6516 c.6502G>C c.(6502-6504)GGC>CGC p.G2168R NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2168 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTGTTCGATGGCCCCGTGGA 0.582 13 44 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 15983977 15983977 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:15983977G>A uc002gpo.2 - 24 3482 c.3242C>T c.(3241-3243)CCG>CTG p.P1081L NCOR1_uc002gpn.2_Missense_Mutation_p.P1097L|NCOR1_uc002gpp.1_Missense_Mutation_p.P988L|NCOR1_uc010vwb.1_5'Flank|NCOR1_uc010coy.2_5'Flank|NCOR1_uc010vwc.1_5'Flank NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1081 Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCCCACTGACGGCTTGGGTGT 0.403 14 104 --- --- --- --- PASS RASD1 51655 broad.mit.edu 37 17 17399430 17399430 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:17399430C>A uc002gri.2 - 1 278 c.66G>T c.(64-66)AAG>AAT p.K22N NM_016084 NP_057168 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 precursor 22 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity 0 GATAGCAGTTCTTGGCCGGGA 0.657 3 40 --- --- --- --- PASS TAOK1 57551 broad.mit.edu 37 17 27861296 27861296 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:27861296G>A uc002hdz.1 + 19 2716 c.2522G>A c.(2521-2523)CGG>CAG p.R841Q TAOK1_uc010wbe.1_Missense_Mutation_p.R693Q|TAOK1_uc010wbf.1_Missense_Mutation_p.R841Q NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 841 Potential. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GTCTCCCTCCGGAGGGCACTC 0.403 9 45 --- --- --- --- PASS SYNRG 11276 broad.mit.edu 37 17 35913588 35913588 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:35913588T>A uc002hoa.2 - 14 2320 c.2237A>T c.(2236-2238)GAT>GTT p.D746V SYNRG_uc010wde.1_Missense_Mutation_p.D668V|SYNRG_uc010wdf.1_Missense_Mutation_p.D668V|SYNRG_uc002hoc.2_Missense_Mutation_p.D667V|SYNRG_uc002hoe.2_Missense_Mutation_p.D668V|SYNRG_uc002hod.2_Missense_Mutation_p.D668V|SYNRG_uc010wdg.1_Missense_Mutation_p.D585V|SYNRG_uc002hob.2_Missense_Mutation_p.D746V|SYNRG_uc002hof.2_Missense_Mutation_p.D458V|SYNRG_uc010cvd.1_Missense_Mutation_p.D546V NM_007247 NP_009178 Q9UMZ2 SYNRG_HUMAN synergin, gamma isoform 1 746 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding ovary(2) 2 TCTGAAGACATCGTACTTGGT 0.478 24 68 --- --- --- --- PASS KRT16 3868 broad.mit.edu 37 17 39767921 39767921 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:39767921G>A uc002hxg.3 - 2 723 c.584C>T c.(583-585)GCC>GTC p.A195V JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 195 Coil 1B.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) TGCCAGCCTGGCATTGTCAAT 0.607 3 43 --- --- --- --- PASS KLHL11 55175 broad.mit.edu 37 17 40011341 40011341 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:40011341C>G uc002hyf.1 - 2 784 c.778G>C c.(778-780)GTT>CTT p.V260L NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 260 BACK. extracellular region 0 Breast(137;0.00156) TCAGAATCAACTGTAATTTCC 0.353 17 66 --- --- --- --- PASS DBF4B 80174 broad.mit.edu 37 17 42800368 42800368 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:42800368G>C uc002ihf.2 + 3 416 c.203G>C c.(202-204)GGG>GCG p.G68A DBF4B_uc002ihd.1_Missense_Mutation_p.G68A|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Missense_Mutation_p.G52A|DBF4B_uc002ihg.2_Missense_Mutation_p.G52A NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 68 BRCT. cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) TTTTTGACGGGGGCCATTCAG 0.512 20 75 --- --- --- --- PASS HSF5 124535 broad.mit.edu 37 17 56536130 56536130 + Silent SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:56536130A>G uc002iwi.1 - 5 1843 c.1719T>C c.(1717-1719)CCT>CCC p.P573P NM_001080439 NP_001073908 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 573 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) AATCCTTACCAGGGGACTTTC 0.418 12 43 --- --- --- --- PASS TBX2 6909 broad.mit.edu 37 17 59485479 59485479 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:59485479C>T uc010wox.1 + 7 2032 c.1751C>T c.(1750-1752)GCC>GTC p.A584V TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Missense_Mutation_p.A430V NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 584 Ala-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 gcagcagcagccgcagccgcc 0.388 10 28 --- --- --- --- PASS EFCAB3 146779 broad.mit.edu 37 17 60469293 60469293 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:60469293G>T uc002izu.1 + 4 340 c.262G>T c.(262-264)GTC>TTC p.V88F EFCAB3_uc010wpc.1_Missense_Mutation_p.V140F NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 88 EF-hand 2. calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) CAAGCATGATGTCTATAATGA 0.353 29 114 --- --- --- --- PASS RPTOR 57521 broad.mit.edu 37 17 78896603 78896603 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr17:78896603A>G uc002jyt.1 + 22 3405 c.2600A>G c.(2599-2601)AAG>AGG p.K867R RPTOR_uc010wug.1_Missense_Mutation_p.K709R NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 867 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CCCACCAACAAGGGCGTGCAC 0.726 2 3 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9257705 9257705 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr18:9257705G>T uc002knv.2 + 9 4697 c.4440G>T c.(4438-4440)CAG>CAT p.Q1480H ANKRD12_uc002knw.2_Missense_Mutation_p.Q1457H|ANKRD12_uc002knx.2_Missense_Mutation_p.Q1457H|ANKRD12_uc010dkx.1_Missense_Mutation_p.Q1187H NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1480 nucleus ovary(2)|central_nervous_system(1) 3 CTTGTGCTCAGGATCCGGCAT 0.418 13 79 --- --- --- --- PASS ANKRD12 23253 broad.mit.edu 37 18 9257706 9257706 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr18:9257706G>T uc002knv.2 + 9 4698 c.4441G>T c.(4441-4443)GAT>TAT p.D1481Y ANKRD12_uc002knw.2_Missense_Mutation_p.D1458Y|ANKRD12_uc002knx.2_Missense_Mutation_p.D1458Y|ANKRD12_uc010dkx.1_Missense_Mutation_p.D1188Y NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1481 nucleus ovary(2)|central_nervous_system(1) 3 TTGTGCTCAGGATCCGGCATC 0.413 14 78 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28986104 28986104 + Silent SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr18:28986104G>T uc002kwq.2 + 12 1836 c.1701G>T c.(1699-1701)CTG>CTT p.L567L DSG4_uc002kwr.2_Silent_p.L567L NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 567 Extracellular (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCCCAATCCTGGTGAAGGACA 0.448 12 55 --- --- --- --- PASS GALNT1 2589 broad.mit.edu 37 18 33263543 33263543 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr18:33263543G>T uc010dmu.2 + 5 723 c.670G>T c.(670-672)GCC>TCC p.A224S GALNT1_uc002kyz.3_Missense_Mutation_p.A164S|GALNT1_uc002kzb.2_Missense_Mutation_p.A224S NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 224 Lumenal (Potential).|Catalytic subdomain A. protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 GCCTCTCTTGGCCAGGATCAA 0.423 5 34 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65178549 65178549 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr18:65178549C>A uc002lke.1 - 2 4551 c.3327G>T c.(3325-3327)TTG>TTT p.L1109F NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 1099 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) ACAAGTGAGACAAGAGGGACA 0.393 14 34 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15569435 15569435 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:15569435G>T uc002nbe.2 - 7 780 c.694C>A c.(694-696)CTG>ATG p.L232M RASAL3_uc010eaa.1_5'Flank NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 232 PH. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 AGTGTGGCCAGCGACTCCCTA 0.647 9 21 --- --- --- --- PASS SLC27A1 376497 broad.mit.edu 37 19 17608160 17608160 + Missense_Mutation SNP G A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:17608160G>A uc002ngu.1 + 7 1143 c.1093G>A c.(1093-1095)GGG>AGG p.G365R SLC27A1_uc002ngt.1_Missense_Mutation_p.G97R|SLC27A1_uc010xpp.1_Missense_Mutation_p.G186R|SLC27A1_uc002ngv.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 365 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 GGTGGGGAACGGGCTGCGTCC 0.662 6 25 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20829130 20829130 + Missense_Mutation SNP A G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:20829130A>G uc002npb.1 - 2 235 c.85T>C c.(85-87)TAT>CAT p.Y29H ZNF626_uc002npc.1_Intron|ZNF626_uc002npd.1_Missense_Mutation_p.Y29H NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ACATTCCTATATAAATTCCGC 0.383 39 92 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039987 31039987 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:31039987G>T uc002nsu.1 + 4 3599 c.3461G>T c.(3460-3462)AGT>ATT p.S1154I ZNF536_uc010edd.1_Missense_Mutation_p.S1154I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GAAACCACGAGTAAGAACACT 0.547 19 53 --- --- --- --- PASS ZFP14 57677 broad.mit.edu 37 19 36853129 36853129 + Silent SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:36853129T>A uc002odx.1 - 2 114 c.21A>T c.(19-21)ACA>ACT p.T7T ZFP14_uc010xtd.1_Silent_p.T7T|ZFP14_uc010eex.1_Silent_p.T7T NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) CATCCCTGAATGTCACTGAAC 0.403 14 53 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38959968 38959968 + Nonsense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:38959968G>T uc002oit.2 + 27 3710 c.3580G>T c.(3580-3582)GGA>TGA p.G1194* RYR1_uc002oiu.2_Nonsense_Mutation_p.G1194* NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1194 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGCAGCTTGGGACCTGGCCA 0.388 13 72 --- --- --- --- PASS ADCK4 79934 broad.mit.edu 37 19 41201934 41201934 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:41201934C>A uc002oor.2 - 13 1471 c.1169G>T c.(1168-1170)AGC>ATC p.S390I ADCK4_uc002oop.1_Missense_Mutation_p.S67I|ADCK4_uc002ooq.1_Missense_Mutation_p.S349I NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 390 Protein kinase. integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) AAACTCCCGGCTTGCACCAAA 0.557 29 121 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42847671 42847671 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:42847671C>T uc002otl.3 + 9 2191 c.1556C>T c.(1555-1557)GCG>GTG p.A519V MEGF8_uc002otm.3_Missense_Mutation_p.A60V NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 519 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) CATGTAGCTGCGGTGCTTGGT 0.632 6 52 --- --- --- --- PASS PSG9 5678 broad.mit.edu 37 19 43763083 43763083 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:43763083G>T uc002owd.3 - 4 1013 c.914C>A c.(913-915)ACA>AAA p.T305K PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Missense_Mutation_p.T212K|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 305 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) ATAGGGTCCTGTTTCATTTCT 0.498 67 188 --- --- --- --- PASS IRGQ 126298 broad.mit.edu 37 19 44097332 44097332 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:44097332C>T uc002oww.2 - 2 836 c.718G>A c.(718-720)GAC>AAC p.D240N IRGQ_uc010eiv.2_Missense_Mutation_p.D240N NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 240 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) AGCAGCATGTCCACCACAAGG 0.687 14 64 --- --- --- --- PASS NUP62 23636 broad.mit.edu 37 19 50413004 50413004 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:50413004C>A uc002pqx.2 - 2 165 c.61G>T c.(61-63)GCA>TCA p.A21S IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Missense_Mutation_p.A21S|NUP62_uc002pqz.2_Missense_Mutation_p.A21S|NUP62_uc002pra.2_Missense_Mutation_p.A21S|NUP62_uc002prb.2_Missense_Mutation_p.A21S|NUP62_uc002prc.2_Missense_Mutation_p.A21S NM_153719 NP_714941 P37198 NUP62_HUMAN nucleoporin 62kDa 21 15 X 9 AA approximate repeats.|2.|Thr-rich. carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding 0 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GCCGTCTTTGCAGTGCCAAAC 0.567 14 60 --- --- --- --- PASS KCNC3 3748 broad.mit.edu 37 19 50824011 50824011 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:50824011G>T uc002pru.1 - 3 2304 c.2009C>A c.(2008-2010)GCT>GAT p.A670D KCNC3_uc002prt.1_Missense_Mutation_p.A306D NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 670 Cytoplasmic (Potential).|Poly-Ala. cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) GGCAAGCGCAGCTGCTGCCGG 0.642 4 50 --- --- --- --- PASS CEACAM18 729767 broad.mit.edu 37 19 51983848 51983848 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:51983848C>A uc002pwv.1 + 3 497 c.497C>A c.(496-498)ACT>AAT p.T166N NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 166 integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATCAGGCCGACTGCATTAAAT 0.557 19 64 --- --- --- --- PASS SIGLEC5 8778 broad.mit.edu 37 19 52131184 52131184 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:52131184C>G uc002pxe.2 - 5 1039 c.900G>C c.(898-900)GAG>GAC p.E300D NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 300 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTCGACGAAGCTCCAAGATCC 0.582 25 89 --- --- --- --- PASS NLRP9 338321 broad.mit.edu 37 19 56244704 56244704 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:56244704C>T uc002qly.2 - 2 521 c.493G>A c.(493-495)GTG>ATG p.V165M NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 165 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCCAACATCACTTTTCTTAAA 0.438 22 61 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57327108 57327108 + Missense_Mutation SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr19:57327108C>T uc002qnu.2 - 7 3053 c.2702G>A c.(2701-2703)CGT>CAT p.R901H ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R872H|PEG3_uc002qnv.2_Missense_Mutation_p.R901H|PEG3_uc002qnw.2_Missense_Mutation_p.R777H|PEG3_uc002qnx.2_Missense_Mutation_p.R775H|PEG3_uc010etr.2_Missense_Mutation_p.R901H NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 901 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGTTTGGCACGGAATACACT 0.463 27 119 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25203568 25203568 + Silent SNP T C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr20:25203568T>C uc002wuj.2 + 12 1320 c.1140T>C c.(1138-1140)TAT>TAC p.Y380Y ENTPD6_uc010zsz.1_Silent_p.Y162Y|ENTPD6_uc002wum.2_Silent_p.Y363Y|ENTPD6_uc010zta.1_Silent_p.Y380Y|ENTPD6_uc002wun.2_Silent_p.Y346Y|ENTPD6_uc002wuk.2_Silent_p.Y379Y|ENTPD6_uc002wul.2_Silent_p.Y379Y|ENTPD6_uc010ztb.1_Silent_p.Y352Y|ENTPD6_uc010ztc.1_Silent_p.Y352Y|ENTPD6_uc002wuo.2_Silent_p.Y132Y|ENTPD6_uc010ztd.1_Silent_p.Y128Y|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 380 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 TGGACTTCTATGCTTTCTCCT 0.612 54 94 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr20:33345744C>T uc002xav.2 - 8 3378 c.807G>A c.(805-807)CAG>CAA p.Q269Q NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 gctgctgctgctgttgttgtt 0.313 4 59 --- --- --- --- PASS SPAG4 6676 broad.mit.edu 37 20 34207663 34207663 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr20:34207663G>T uc002xdb.1 + 10 1189 c.1072G>T c.(1072-1074)GTC>TTC p.V358F SPAG4_uc010zvi.1_Missense_Mutation_p.V281F NM_003116 NP_003107 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 358 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity 0 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) CGATTTCGCGGTCTTTGTGAG 0.567 3 49 --- --- --- --- PASS ZFP64 55734 broad.mit.edu 37 20 50781293 50781293 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr20:50781293C>A uc002xwl.2 - 4 801 c.452G>T c.(451-453)TGC>TTC p.C151F ZFP64_uc002xwk.2_Missense_Mutation_p.C151F|ZFP64_uc002xwm.2_Missense_Mutation_p.C149F|ZFP64_uc002xwn.2_Missense_Mutation_p.C97F NM_018197 NP_060667 Q9NPA5 ZF64A_HUMAN zinc finger protein 64 isoform a 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTTGAATTGGCAACCTAAAAA 0.254 13 48 --- --- --- --- PASS COL20A1 57642 broad.mit.edu 37 20 61944518 61944518 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr20:61944518G>C uc011aau.1 + 17 2226 c.2126G>C c.(2125-2127)AGG>ACG p.R709T COL20A1_uc011aav.1_Missense_Mutation_p.R530T NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 709 Fibronectin type-III 5. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) GGCCTAGGGAGGCACACAGAG 0.657 8 31 --- --- --- --- PASS KRTAP11-1 337880 broad.mit.edu 37 21 32253437 32253437 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr21:32253437C>A uc002yov.2 - 1 438 c.407G>T c.(406-408)GGA>GTA p.G136V NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 136 3.|4 X 10 AA approximate repeats. keratin filament structural molecule activity pancreas(1) 1 AGTAGAGACTCCTCCCACTGG 0.597 13 68 --- --- --- --- PASS RIPK4 54101 broad.mit.edu 37 21 43164076 43164076 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr21:43164076C>A uc002yzn.1 - 7 1209 c.1161G>T c.(1159-1161)CTG>CTT p.L387L NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 387 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 AGGACAGCGACAGTGATCCTC 0.632 16 54 --- --- --- --- PASS CCT8L2 150160 broad.mit.edu 37 22 17073086 17073086 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:17073086C>A uc002zlp.1 - 1 615 c.355G>T c.(355-357)GCA>TCA p.A119S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 119 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGCTGCTCTGCCTGTTCCAGC 0.657 12 33 --- --- --- --- PASS CECR1 51816 broad.mit.edu 37 22 17669238 17669238 + Missense_Mutation SNP C G G rs45511697 by1000genomes TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:17669238C>G uc002zmk.1 - 6 1284 c.1072G>C c.(1072-1074)GGA>CGA p.G358R CECR1_uc010gqu.1_Missense_Mutation_p.G358R|CECR1_uc011agi.1_Missense_Mutation_p.G316R|CECR1_uc002zmj.1_Missense_Mutation_p.G117R NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 358 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CCTGTTTCTCCGGCGTGGAAG 0.602 12 79 --- --- --- --- PASS CECR1 51816 broad.mit.edu 37 22 17669239 17669239 + Silent SNP G A A rs144447953 TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:17669239G>A uc002zmk.1 - 6 1283 c.1071C>T c.(1069-1071)GCC>GCT p.A357A CECR1_uc010gqu.1_Silent_p.A357A|CECR1_uc011agi.1_Silent_p.A315A|CECR1_uc002zmj.1_Silent_p.A116A NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 357 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTGTTTCTCCGGCGTGGAAGA 0.597 12 79 --- --- --- --- PASS NCRNA00207 388910 broad.mit.edu 37 22 44966431 44966431 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:44966431T>A uc003bev.1 + 2 155 c.88T>A c.(88-90)TCA>ACA p.S30T NCRNA00207_uc011aqg.1_RNA|NCRNA00207_uc011aqh.1_RNA NM_001012986 NP_001013004 SubName: Full=Novel gene; 0 TGGGATCCAATCACTGAACCA 0.473 7 23 --- --- --- --- PASS PRR5 55615 broad.mit.edu 37 22 45133072 45133072 + Missense_Mutation SNP G T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:45133072G>T uc003bfb.1 + 8 1384 c.1112G>T c.(1111-1113)CGG>CTG p.R371L PRR5_uc003bew.1_Missense_Mutation_p.R362L|PRR5_uc003bex.1_Missense_Mutation_p.R276L|PRR5_uc010gzt.1_Missense_Mutation_p.R394L|PRR5_uc010gzu.1_Missense_Mutation_p.R335L|PRR5_uc003bey.1_Missense_Mutation_p.R362L|PRR5_uc003bez.1_Missense_Mutation_p.R276L|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R264L|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R270L NM_181333 NP_851850 P85299 PRR5_HUMAN proline rich 5 (renal) isoform 1 371 cell cycle skin(1) 1 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GGCCGGGGCCGGGGCTCTGGC 0.622 27 67 --- --- --- --- PASS SMC1B 27127 broad.mit.edu 37 22 45802744 45802744 + Nonsense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:45802744C>A uc003bgc.2 - 3 353 c.301G>T c.(301-303)GGA>TGA p.G101* SMC1B_uc003bgd.2_Nonsense_Mutation_p.G101*|SMC1B_uc003bge.1_5'UTR NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 101 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TCTGAGCATCCCCCTAAAATA 0.279 5 40 --- --- --- --- PASS FAM19A5 25817 broad.mit.edu 37 22 49042449 49042449 + Silent SNP C T T TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr22:49042449C>T uc003bim.3 + 2 270 c.153C>T c.(151-153)GAC>GAT p.D51D FAM19A5_uc003bio.3_Silent_p.D44D NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine 51 extracellular region|integral to membrane large_intestine(1) 1 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) TGACCTTGGACCGGGACAGCA 0.657 6 43 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3242791 3242791 + Missense_Mutation SNP T A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chrX:3242791T>A uc004crg.3 - 5 1092 c.935A>T c.(934-936)CAA>CTA p.Q312L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 312 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGGGGCAGTTGGAATTTCTC 0.493 24 33 --- --- --- --- PASS MAGEB10 139422 broad.mit.edu 37 X 27839468 27839468 + Silent SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chrX:27839468C>A uc004dbw.2 + 3 272 c.45C>A c.(43-45)CGC>CGA p.R15R NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 15 lung(1)|breast(1)|central_nervous_system(1) 3 GGGAAAAACGCCGTCAGGCCC 0.532 10 16 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109694807 109694807 + Missense_Mutation SNP C G G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chrX:109694807C>G uc004eor.1 + 3 1208 c.962C>G c.(961-963)TCC>TGC p.S321C RGAG1_uc011msr.1_Missense_Mutation_p.S321C NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 321 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GAAGTAATGTCCACACCGCTA 0.493 62 109 --- --- --- --- PASS GABRE 2564 broad.mit.edu 37 X 151138714 151138714 + Missense_Mutation SNP G C C TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chrX:151138714G>C uc004ffi.2 - 2 271 c.217C>G c.(217-219)CGC>GGC p.R73G GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 73 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTCAGGATGCGAGAGGCTTCT 0.547 37 55 --- --- --- --- PASS RENBP 5973 broad.mit.edu 37 X 153207088 153207088 + Missense_Mutation SNP C A A TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chrX:153207088C>A uc004fjo.1 - 8 958 c.788G>T c.(787-789)GGC>GTC p.G263V RENBP_uc011mzh.1_Missense_Mutation_p.A236S NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 263 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) CAGAAACCAGCCGGCTTCCAG 0.627 16 17 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 9 138398099 138398099 + RNA DEL C - - TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 20735861-1f84-4141-a467-f598108e1e41 45949c1f-3899-4e80-b71e-5385c76237c9 g.chr9:138398099delC uc004cfy.2 - 1 c.195delG Homo sapiens, clone IMAGE:4662750, mRNA. ACCCCAAGAGCCCCCAGAAGA 0.642 4 2 --- --- --- ---