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 ATAD3B 83858 broad.mit.edu 37 1 1431162 1431162 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:1431162C>T uc001afv.2 + 16 2013 c.1912C>T c.(1912-1914)CGG>TGG p.R638W ATAD3B_uc001afx.2_Missense_Mutation_p.R592W|ATAD3B_uc001afy.2_Missense_Mutation_p.R191W NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN AAA-ATPase TOB3 638 ATP binding|nucleoside-triphosphatase activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGGTGGCGGTCGGCCGTTCTG 0.652 11 86 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19440528 19440528 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:19440528C>T uc001bbi.2 - 76 11243 c.11239G>A c.(11239-11241)GAT>AAT p.D3747N UBR4_uc001bbj.1_Missense_Mutation_p.D162N NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3747 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TACACTCGATCAGCTTTGTCC 0.498 OREG0013168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 54 --- --- --- --- PASS HTR6 3362 broad.mit.edu 37 1 19992308 19992308 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:19992308C>T uc001bcl.2 + 1 529 c.62C>T c.(61-63)TCG>TTG p.S21L NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 21 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) gggccgccgtcggccccgggg 0.453 10 11 --- --- --- --- PASS ALPL 249 broad.mit.edu 37 1 21887195 21887195 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:21887195C>T uc001bet.2 + 3 395 c.138C>T c.(136-138)CTC>CTT p.L46L ALPL_uc010odn.1_Missense_Mutation_p.S8L|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_Missense_Mutation_p.S8L|ALPL_uc001beu.3_Silent_p.L46L NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 46 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) TTCAGAAGCTCAACACCAACG 0.547 25 41 --- --- --- --- PASS EXTL1 2134 broad.mit.edu 37 1 26355755 26355755 + Missense_Mutation SNP C T T rs147835535 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:26355755C>T uc001blf.2 + 2 1718 c.851C>T c.(850-852)TCG>TTG p.S284L NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 284 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) GAGGCTGCCTCGCGCTTCCTC 0.632 48 83 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29585210 29585210 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:29585210G>T uc001bru.2 + 3 509 c.399G>T c.(397-399)TGG>TGT p.W133C PTPRU_uc001brv.2_Missense_Mutation_p.W133C|PTPRU_uc001brw.2_Missense_Mutation_p.W133C|PTPRU_uc009vtq.2_Missense_Mutation_p.W133C|PTPRU_uc009vtr.2_Missense_Mutation_p.W133C NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 133 Extracellular (Potential).|MAM. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GTGCTGTGTGGAATATGACTG 0.627 66 95 --- --- --- --- PASS PTPRU 10076 broad.mit.edu 37 1 29647244 29647244 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:29647244G>A uc001bru.2 + 27 3875 c.3765G>A c.(3763-3765)CAG>CAA p.Q1255Q PTPRU_uc001brv.2_Silent_p.Q1251Q|PTPRU_uc001brw.2_Silent_p.Q1245Q|PTPRU_uc009vtq.2_Silent_p.Q1251Q|PTPRU_uc009vtr.2_Silent_p.Q1242Q|PTPRU_uc001brx.2_5'UTR NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1255 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACCCGCTGCAGAGCACCACGC 0.652 23 48 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34118047 34118047 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:34118047C>T uc001bxn.1 - 28 4371 c.4342G>A c.(4342-4344)GAC>AAC p.D1448N CSMD2_uc001bxm.1_Missense_Mutation_p.D1488N|CSMD2_uc001bxo.1_Missense_Mutation_p.D361N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1448 CUB 9.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTGTCAGGTCTCCCCCGCAG 0.552 37 60 --- --- --- --- PASS ZCCHC11 23318 broad.mit.edu 37 1 52991942 52991942 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:52991942G>C uc001ctx.2 - 2 245 c.11C>G c.(10-12)TCT>TGT p.S4C ZCCHC11_uc001cty.2_Missense_Mutation_p.S4C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S4C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S4C|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.S4C|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.S4C NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 4 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 TAAGGTTTTAGACTCTTCCAT 0.313 27 30 --- --- --- --- PASS ACOT11 26027 broad.mit.edu 37 1 55050433 55050433 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:55050433G>T uc001cxm.1 + 2 221 c.139G>T c.(139-141)GTG>TTG p.V47L ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.V13L|ACOT11_uc001cxl.1_Missense_Mutation_p.V47L NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 47 Acyl coenzyme A hydrolase 1. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 CCCCACGGAGGTGCAGATGAG 0.632 8 79 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91781509 91781509 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:91781509C>T uc001doa.3 - 28 3103 c.3003G>A c.(3001-3003)ACG>ACA p.T1001T HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.T680T|HFM1_uc001dob.3_Silent_p.T189T|HFM1_uc010osv.1_Silent_p.T685T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 1001 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTCTGCCGTCGTATCACTAT 0.313 22 35 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113616220 113616220 + Silent SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:113616220G>T uc001edf.1 + 1 390 c.192G>T c.(190-192)CCG>CCT p.P64P LRIG2_uc009wgn.1_5'UTR|uc001ede.1_5'Flank NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 64 LRRNT.|Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGCCCGCACCGAGCTGGAGGG 0.672 OREG0013684 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 96 --- --- --- --- PASS LRIG2 9860 broad.mit.edu 37 1 113661920 113661920 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:113661920C>T uc001edf.1 + 17 2944 c.2746C>T c.(2746-2748)CGA>TGA p.R916* LRIG2_uc009wgn.1_Nonsense_Mutation_p.R813* NM_014813 NP_055628 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like 916 Cytoplasmic (Potential). cytoplasm|integral to membrane|plasma membrane ovary(3) 3 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) CTCCAGGACCCGAGAATACTG 0.423 12 172 --- --- --- --- PASS TTF2 8458 broad.mit.edu 37 1 117632775 117632775 + Missense_Mutation SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:117632775A>G uc001egy.2 + 14 2461 c.2441A>G c.(2440-2442)AAG>AGG p.K814R NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 814 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ATTTTAACCAAGAGCCTTTTG 0.478 4 206 --- --- --- --- PASS WARS2 10352 broad.mit.edu 37 1 119575726 119575726 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:119575726C>T uc001ehn.2 - 6 919 c.891G>A c.(889-891)ATG>ATA p.M297I WARS2_uc010oxf.1_Missense_Mutation_p.M203I|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.M240I|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 297 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) GAGCAGTGTTCATGCCCGCGC 0.592 64 92 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120057214 120057214 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:120057214G>A uc001ehv.1 + 4 1213 c.1068G>A c.(1066-1068)TGG>TGA p.W356* HSD3B1_uc001ehw.2_Nonsense_Mutation_p.W358* NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 356 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CGGTGGAGTGGGTTGGTTCCC 0.493 7 34 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144856874 144856874 + Missense_Mutation SNP A C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:144856874A>C uc001elw.3 - 40 6902 c.6611T>G c.(6610-6612)ATA>AGA p.I2204R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I2098R|PDE4DIP_uc001elv.3_Missense_Mutation_p.I1211R NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2204 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AAGAGACACTATCTTTTTGAC 0.522 T PDGFRB MPD 11 49 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145474701 145474701 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:145474701C>T uc001enq.1 + 4 2666 c.1373C>T c.(1372-1374)GCG>GTG p.A458V NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 458 Pro-rich. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TATGCCGGGGCGCCAGGCTCT 0.652 22 28 --- --- --- --- PASS SLC27A3 11000 broad.mit.edu 37 1 153751662 153751662 + Silent SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:153751662G>C uc001fcz.2 + 8 1925 c.1860G>C c.(1858-1860)GTG>GTC p.V620V SLC27A3_uc009won.2_RNA NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 620 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding ovary(1) 1 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTCAGGAGGTGAACGTCTATG 0.587 125 149 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154321509 154321509 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:154321509C>A uc001fex.2 + 28 3587 c.3587C>A c.(3586-3588)TCC>TAC p.S1196Y NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 1182 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CGCTCCAGCTCCAGCTGGATT 0.622 4 50 --- --- --- --- PASS PEAR1 375033 broad.mit.edu 37 1 156877498 156877498 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:156877498C>T uc001fqj.1 + 7 857 c.741C>T c.(739-741)TCC>TCT p.S247S PEAR1_uc009wsl.1_Silent_p.S48S|PEAR1_uc001fqk.1_5'UTR NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 247 EGF-like 2. integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CACAGGGCTCCTGCAGCTGCC 0.617 36 256 --- --- --- --- PASS GPR161 23432 broad.mit.edu 37 1 168059878 168059878 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:168059878C>T uc001gfc.2 - 6 1442 c.1128G>A c.(1126-1128)GCG>GCA p.A376A GPR161_uc001gfb.2_Silent_p.A244A|GPR161_uc010pll.1_Silent_p.A286A|GPR161_uc010plm.1_Silent_p.A262A|GPR161_uc009wvo.2_Silent_p.A393A|GPR161_uc001gfd.2_Silent_p.A376A|GPR161_uc010pln.1_Silent_p.A396A|GPR161_uc001gfe.1_Silent_p.A376A NM_153832 NP_722561 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 isoform 2 376 Cytoplasmic (Potential). multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_hematologic(923;0.215) CTGCCATGAGCGCAGTGAGGT 0.597 19 26 --- --- --- --- PASS C1orf112 55732 broad.mit.edu 37 1 169798416 169798416 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:169798416C>T uc001ggp.2 + 14 1450 c.1140C>T c.(1138-1140)CTC>CTT p.L380L C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Silent_p.L380L|C1orf112_uc009wvt.2_Silent_p.L57L|C1orf112_uc010plu.1_Missense_Mutation_p.S308L|C1orf112_uc009wvu.1_Silent_p.L256L|C1orf112_uc001ggr.2_Silent_p.L245L|C1orf112_uc010plv.1_Silent_p.L322L NM_018186 NP_060656 Q9NSG2 CA112_HUMAN hypothetical protein LOC55732 380 0 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TATCTCTACTCAAAGCCGTTT 0.368 34 48 --- --- --- --- PASS FMO3 2328 broad.mit.edu 37 1 171080030 171080030 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:171080030G>A uc001ghi.2 + 6 830 c.719G>A c.(718-720)GGA>GAA p.G240E FMO3_uc001ghh.2_Missense_Mutation_p.G240E|FMO3_uc010pmb.1_Missense_Mutation_p.G220E|FMO3_uc010pmc.1_Missense_Mutation_p.G177E NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 240 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACTCGATTTGGAACCTTCCTC 0.468 85 139 --- --- --- --- PASS FMO3 2328 broad.mit.edu 37 1 171085395 171085395 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:171085395G>C uc001ghi.2 + 8 1342 c.1231G>C c.(1231-1233)GAG>CAG p.E411Q FMO3_uc001ghh.2_Missense_Mutation_p.E411Q|FMO3_uc010pmb.1_Missense_Mutation_p.E391Q|FMO3_uc010pmc.1_Missense_Mutation_p.E348Q NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 411 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGATATTAATGAGAAAATGGA 0.358 62 68 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200959778 200959778 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:200959778G>A uc001gvs.1 - 19 3078 c.2761C>T c.(2761-2763)CGA>TGA p.R921* KIF21B_uc001gvr.1_Nonsense_Mutation_p.R921*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R921*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R921* NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 921 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 ATGATCCGTCGCTCCAGGGAC 0.562 29 47 --- --- --- --- PASS LMOD1 25802 broad.mit.edu 37 1 201915418 201915418 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:201915418G>A uc001gxb.2 - 1 299 c.51C>T c.(49-51)ATC>ATT p.I17I LMOD1_uc010ppu.1_Silent_p.I17I NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 17 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 GCAGGCTGTCGATGTCGGGGT 0.622 24 27 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207644250 207644250 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:207644250C>T uc001hfw.2 + 7 1485 c.1391C>T c.(1390-1392)CCC>CTC p.P464L CR2_uc001hfv.2_Missense_Mutation_p.P464L|CR2_uc009xch.2_Missense_Mutation_p.P464L|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 464 Sushi 7.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 CCCCCTGTACCCCAATGCAAA 0.448 11 74 --- --- --- --- PASS MIR205 406988 broad.mit.edu 37 1 209605512 209605512 + RNA SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:209605512C>T hsa-mir-205|MI0000285 + c.35C>T LOC642587_uc009xcn.2_Intron|LOC642587_uc010psk.1_RNA 0 CTTCTCTTGTCCTTCATTCCA 0.463 21 35 --- --- --- --- PASS RPS6KC1 26750 broad.mit.edu 37 1 213415398 213415398 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:213415398C>T uc010ptr.1 + 11 2738 c.2579C>T c.(2578-2580)TCT>TTT p.S860F RPS6KC1_uc001hkd.2_Missense_Mutation_p.S848F|RPS6KC1_uc010pts.1_Missense_Mutation_p.S648F|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S648F|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S679F|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S395F|RPS6KC1_uc001hke.2_Missense_Mutation_p.S679F NM_012424 NP_036556 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 860 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(3)|breast(1) 8 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GAACCAACTTCTTTATTCCAG 0.363 49 92 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214178591 214178591 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:214178591G>A uc001hkh.2 + 3 2081 c.1809G>A c.(1807-1809)CTG>CTA p.L603L NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 603 Prospero-type homeobox. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CCAATATGCTGAAGACCTACT 0.383 32 47 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228437684 228437684 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:228437684C>A uc009xez.1 + 14 4096 c.4052C>A c.(4051-4053)GCA>GAA p.A1351E OBSCN_uc001hsn.2_Missense_Mutation_p.A1351E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1351 Ig-like 14. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GCGGTGTTTGCAAAGGAGCAG 0.647 15 108 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234528184 234528184 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:234528184C>T uc001hwd.2 - 29 4675 c.4675G>A c.(4675-4677)GAG>AAG p.E1559K NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1559 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) AGAGATTTCTCAGGAAAGCAA 0.383 84 134 --- --- --- --- PASS OR2G3 81469 broad.mit.edu 37 1 247769064 247769064 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:247769064G>A uc010pyz.1 + 1 177 c.177G>A c.(175-177)ATG>ATA p.M59I NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ATACCCCAATGTACTTTTTTC 0.423 14 412 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129125 248129125 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:248129125G>T uc010pzd.1 + 1 492 c.492G>T c.(490-492)TGG>TGT p.W164C OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 164 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CATGTGCATGGGCCAGTGGTT 0.413 112 168 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24981004 24981004 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:24981004G>T uc002rfk.2 + 19 4302 c.4044G>T c.(4042-4044)ATG>ATT p.M1348I NCOA1_uc010eye.2_Missense_Mutation_p.M1348I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1197I|NCOA1_uc002rfj.2_Missense_Mutation_p.M1348I|NCOA1_uc002rfl.2_Missense_Mutation_p.M1348I|NCOA1_uc010eyf.2_Missense_Mutation_p.M241I NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1348 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCAGGAATGAACACTGTGT 0.483 T PAX3 alveolar rhadomyosarcoma 25 50 --- --- --- --- PASS AGBL5 60509 broad.mit.edu 37 2 27278619 27278619 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:27278619C>G uc002rie.2 + 7 1195 c.978C>G c.(976-978)ATC>ATG p.I326M AGBL5_uc002ric.2_Missense_Mutation_p.I326M|AGBL5_uc002rid.2_Missense_Mutation_p.I326M|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 326 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACCCGGCCATCTATGGGGCCA 0.552 41 58 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63058184 63058184 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:63058184G>C uc002sby.2 + 7 1007 c.525G>C c.(523-525)TTG>TTC p.L175F EHBP1_uc010fcp.2_Missense_Mutation_p.L175F|EHBP1_uc002sbx.2_Missense_Mutation_p.L175F|EHBP1_uc002sbz.2_Missense_Mutation_p.L175F|EHBP1_uc002scb.2_Missense_Mutation_p.L175F NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 175 cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TGGCTAGTTTGATGAGTATGA 0.343 Hereditary_Prostate_Cancer 47 79 --- --- --- --- PASS EHBP1 23301 broad.mit.edu 37 2 63058260 63058260 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:63058260G>C uc002sby.2 + 7 1083 c.601G>C c.(601-603)GTG>CTG p.V201L EHBP1_uc010fcp.2_Missense_Mutation_p.V201L|EHBP1_uc002sbx.2_Missense_Mutation_p.V201L|EHBP1_uc002sbz.2_Missense_Mutation_p.V201L|EHBP1_uc002scb.2_Missense_Mutation_p.V201L NM_015252 NP_056067 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 isoform 1 201 Potential. cytoplasm|membrane ovary(1)|breast(1) 2 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TGAGAACAGAGTGAACCAAGA 0.343 Hereditary_Prostate_Cancer 23 37 --- --- --- --- PASS TET3 200424 broad.mit.edu 37 2 74327961 74327961 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:74327961C>T uc002skb.3 + 9 3641 c.3641C>T c.(3640-3642)GCC>GTC p.A1214V NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1214 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CCCACAGACGCCCACCACCCC 0.652 5 12 --- --- --- --- PASS CCDC93 54520 broad.mit.edu 37 2 118709951 118709951 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:118709951C>T uc002tlj.2 - 13 1192 c.1066G>A c.(1066-1068)GAG>AAG p.E356K CCDC93_uc010fld.1_Missense_Mutation_p.E356K NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 356 Potential. large_intestine(1)|ovary(1) 2 CTGCTCACCTCTGTCAGCGTT 0.408 OREG0003818 type=REGULATORY REGION|Gene=AK001858|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 58 --- --- --- --- PASS MYO7B 4648 broad.mit.edu 37 2 128392713 128392713 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:128392713C>T uc002top.2 + 42 5707 c.5654C>T c.(5653-5655)CCC>CTC p.P1885L MYO7B_uc002tos.1_5'UTR|MYO7B_uc002tot.2_5'UTR NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1885 FERM 2.|MyTH4 3. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GTGACGCTCCCCTACCAGGTG 0.607 3 17 --- --- --- --- PASS TANC1 85461 broad.mit.edu 37 2 160031616 160031616 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:160031616G>A uc002uag.2 + 12 1930 c.1656G>A c.(1654-1656)CTG>CTA p.L552L TANC1_uc010fol.1_Silent_p.L446L|TANC1_uc010zcm.1_Silent_p.L544L|TANC1_uc010fom.1_Silent_p.L358L|TANC1_uc002uai.1_5'Flank NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 552 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AGAGCATGCTGAGCCTCCGAT 0.577 76 92 --- --- --- --- PASS STK17B 9262 broad.mit.edu 37 2 197028073 197028073 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:197028073G>A uc002utk.2 - 2 359 c.35C>T c.(34-36)TCA>TTA p.S12L STK17B_uc010fsh.2_Missense_Mutation_p.S12L NM_004226 NP_004217 O94768 ST17B_HUMAN serine/threonine kinase 17B 12 apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity lung(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.141) TAGTAGGCCTGAAATACTTCG 0.343 33 56 --- --- --- --- PASS CDK15 65061 broad.mit.edu 37 2 202700390 202700390 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:202700390C>T uc002uyt.2 + 8 804 c.755C>T c.(754-756)CCC>CTC p.P252L CDK15_uc010ftm.2_Missense_Mutation_p.P117L|CDK15_uc002uys.2_Missense_Mutation_p.P201L|CDK15_uc010ftn.1_Missense_Mutation_p.P201L|CDK15_uc010fto.1_Missense_Mutation_p.P231L NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 252 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) AAGTCCATTCCCAGCCAGACA 0.527 14 54 --- --- --- --- PASS STK36 27148 broad.mit.edu 37 2 219545378 219545378 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:219545378G>A uc002viu.2 + 10 1455 c.1189G>A c.(1189-1191)GAG>AAG p.E397K STK36_uc002viv.2_Missense_Mutation_p.E397K NM_015690 NP_056505 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 397 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 11 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) GGAGAGGCCAGAGGTGCTGGG 0.542 10 20 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225376190 225376190 + Nonsense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:225376190G>C uc002vny.2 - 6 1148 c.764C>G c.(763-765)TCA>TGA p.S255* CUL3_uc010zls.1_Nonsense_Mutation_p.S189*|CUL3_uc010fwy.1_Nonsense_Mutation_p.S261* NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 255 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TTCTTCCGTTGATTTGTCAAG 0.353 94 163 --- --- --- --- PASS TSEN2 80746 broad.mit.edu 37 3 12545158 12545158 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:12545158C>T uc003bxc.2 + 5 1093 c.706C>T c.(706-708)CAT>TAT p.H236Y TSEN2_uc003bwy.2_Missense_Mutation_p.H236Y|TSEN2_uc003bwz.2_Missense_Mutation_p.H177Y|TSEN2_uc003bxa.2_Missense_Mutation_p.H236Y|TSEN2_uc011auq.1_Missense_Mutation_p.H236Y|TSEN2_uc003bxb.2_Missense_Mutation_p.H236Y|TSEN2_uc011aur.1_Missense_Mutation_p.H145Y NM_025265 NP_079541 Q8NCE0 SEN2_HUMAN tRNA-intron nuclease 2 isoform 1 236 mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity central_nervous_system(1) 1 TGGCCTTCATCATGAAGACGG 0.577 18 14 --- --- --- --- PASS TMEM43 79188 broad.mit.edu 37 3 14170986 14170986 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:14170986G>A uc003byk.2 + 2 341 c.87G>A c.(85-87)CTG>CTA p.L29L TMEM43_uc003byl.1_5'Flank NM_024334 NP_077310 Q9BTV4 TMM43_HUMAN transmembrane protein 43 29 Nuclear (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane ovary(1) 1 TGGAACGGCTGAGCGAGACCT 0.493 29 58 --- --- --- --- PASS EFHB 151651 broad.mit.edu 37 3 19938194 19938194 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:19938194G>A uc003cbl.3 - 9 1906 c.1710C>T c.(1708-1710)TTC>TTT p.F570F EFHB_uc003cbm.2_Silent_p.F440F NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 570 EF-hand 1. signal transduction proteinaceous extracellular matrix calcium ion binding 0 CATAGTGCCTGAAGGCTGCCA 0.433 60 103 --- --- --- --- PASS P4HTM 54681 broad.mit.edu 37 3 49039978 49039978 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:49039978G>A uc003cvg.2 + 4 1022 c.673G>A c.(673-675)GAG>AAG p.E225K P4HTM_uc003cvh.2_Missense_Mutation_p.E225K|P4HTM_uc010hkm.1_Missense_Mutation_p.E111K NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 225 Lumenal (Potential).|EF-hand 2. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GATGACTCCAGAGAGCATTCA 0.587 65 117 --- --- --- --- PASS P4HTM 54681 broad.mit.edu 37 3 49043509 49043509 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:49043509G>A uc003cvg.2 + 8 1526 c.1177G>A c.(1177-1179)GAT>AAT p.D393N P4HTM_uc003cvh.2_Missense_Mutation_p.D454N|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 393 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) TCTGATTCAGGATGACGTGGA 0.582 75 114 --- --- --- --- PASS P4HTM 54681 broad.mit.edu 37 3 49043512 49043512 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:49043512G>T uc003cvg.2 + 8 1529 c.1180G>T c.(1180-1182)GAC>TAC p.D394Y P4HTM_uc003cvh.2_Missense_Mutation_p.D455Y|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 394 Lumenal (Potential).|Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) GATTCAGGATGACGTGGACCT 0.582 73 112 --- --- --- --- PASS ITIH3 3699 broad.mit.edu 37 3 52830560 52830560 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:52830560C>T uc003dfv.2 + 3 214 c.178C>T c.(178-180)CAC>TAC p.H60Y ITIH3_uc011bek.1_Missense_Mutation_p.H60Y NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 60 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCGTTTTGCTCACAATGTTGT 0.542 14 24 --- --- --- --- PASS C3orf63 23272 broad.mit.edu 37 3 56681054 56681054 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:56681054G>A uc003did.3 - 14 1812 c.1711C>T c.(1711-1713)CGA>TGA p.R571* C3orf63_uc003dic.3_Nonsense_Mutation_p.R175*|C3orf63_uc003die.3_Nonsense_Mutation_p.R571* NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 571 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) ATAAACTCTCGTTTACCTGAA 0.313 40 61 --- --- --- --- PASS UBA3 9039 broad.mit.edu 37 3 69105003 69105003 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:69105003T>A uc003dno.2 - 17 1322 c.1302A>T c.(1300-1302)AAA>AAT p.K434N UBA3_uc003dnq.2_Missense_Mutation_p.K420N|UBA3_uc011bfy.1_Missense_Mutation_p.K257N|UBA3_uc011bfz.1_Missense_Mutation_p.K257N NM_003968 NP_003959 Q8TBC4 UBA3_HUMAN ubiquitin-activating enzyme 3 isoform 1 434 Interaction with UBE2M core domain. protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity ovary(1) 1 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) GTAAAATACCTTTCAATGTTT 0.303 30 146 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77617511 77617511 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:77617511G>C uc003dpy.3 + 13 2540 c.1897G>C c.(1897-1899)GAG>CAG p.E633Q ROBO2_uc003dpz.2_Missense_Mutation_p.E637Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E637Q NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 633 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) AGTGCAGAAAGAGCTAGGAGA 0.433 7 135 --- --- --- --- PASS ROBO1 6091 broad.mit.edu 37 3 78684989 78684989 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:78684989C>T uc003dqe.2 - 23 3515 c.3307G>A c.(3307-3309)GGA>AGA p.G1103R ROBO1_uc003dqb.2_Missense_Mutation_p.G1064R|ROBO1_uc003dqc.2_Missense_Mutation_p.G1003R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1058R|ROBO1_uc010hoh.2_Missense_Mutation_p.G295R|ROBO1_uc011bgl.1_Missense_Mutation_p.G675R NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1103 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTGCTGTCCCAGTGGTTTC 0.502 28 160 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102175056 102175056 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:102175056T>A uc003dvs.1 + 11 1229 c.347T>A c.(346-348)GTC>GAC p.V116D ZPLD1_uc003dvt.1_Missense_Mutation_p.V132D|ZPLD1_uc011bhg.1_Missense_Mutation_p.V116D NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 116 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 ATTCCTGGAGTCAGTGCTTAT 0.358 23 119 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102175057 102175057 + Silent SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:102175057C>G uc003dvs.1 + 11 1230 c.348C>G c.(346-348)GTC>GTG p.V116V ZPLD1_uc003dvt.1_Silent_p.V132V|ZPLD1_uc011bhg.1_Silent_p.V116V NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 116 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TTCCTGGAGTCAGTGCTTATG 0.363 24 123 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108403129 108403129 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:108403129C>G uc003dxd.2 + 27 3372 c.2950C>G c.(2950-2952)CAA>GAA p.Q984E DZIP3_uc003dxf.1_Missense_Mutation_p.Q984E|DZIP3_uc011bhm.1_Missense_Mutation_p.Q435E NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 984 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 TACTGTTCCTCAAATGCCTGC 0.393 168 245 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113135402 113135402 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:113135402G>A uc003eae.1 - 6 689 c.643C>T c.(643-645)CCT>TCT p.P215S NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 215 central_nervous_system(1) 1 CTCAGAGAAGGATATTCATAG 0.333 16 36 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113378598 113378598 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:113378598G>A uc003eam.2 - 7 2342 c.1931C>T c.(1930-1932)TCA>TTA p.S644L KIAA2018_uc003eal.2_Missense_Mutation_p.S588L NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 644 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GTTAGACGCTGATAAAGATGA 0.393 88 118 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114070442 114070442 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:114070442G>A uc003ebi.2 - 4 663 c.483C>T c.(481-483)GGC>GGT p.G161G ZBTB20_uc003ebj.2_Silent_p.G88G|ZBTB20_uc010hqp.2_Silent_p.G88G|ZBTB20_uc003ebk.2_Silent_p.G88G|ZBTB20_uc003ebl.2_Silent_p.G88G|ZBTB20_uc003ebm.2_Silent_p.G88G|ZBTB20_uc003ebn.2_Silent_p.G88G|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 161 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CCCGTAGCACGCCGCTGTACA 0.567 27 51 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122269520 122269520 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:122269520C>G uc010hri.2 - 6 1487 c.1342G>C c.(1342-1344)GAT>CAT p.D448H PARP9_uc003eff.3_Missense_Mutation_p.D413H|PARP9_uc011bjs.1_Missense_Mutation_p.D413H|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.D413H|PARP9_uc003efh.2_Missense_Mutation_p.D448H|PARP9_uc003efj.2_Missense_Mutation_p.D413H NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 448 Macro 2. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) AAAACTTCATCAAACAAAATC 0.338 81 94 --- --- --- --- PASS MYLK 4638 broad.mit.edu 37 3 123376143 123376143 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:123376143G>A uc003ego.2 - 24 4400 c.4118C>T c.(4117-4119)TCA>TTA p.S1373L MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.S173L|MYLK_uc011bjw.1_Missense_Mutation_p.S1373L|MYLK_uc003egp.2_Missense_Mutation_p.S1304L|MYLK_uc003egq.2_Missense_Mutation_p.S1373L|MYLK_uc003egr.2_Missense_Mutation_p.S1304L|MYLK_uc003egs.2_Missense_Mutation_p.S1197L NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1373 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CTTGTTGGCTGAGTCCCAGAT 0.552 20 137 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129226555 129226555 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:129226555C>T uc003emm.2 + 23 3042 c.2836C>T c.(2836-2838)CAG>TAG p.Q946* IFT122_uc003eml.2_Nonsense_Mutation_p.Q997*|IFT122_uc003emn.2_Nonsense_Mutation_p.Q887*|IFT122_uc003emo.2_Nonsense_Mutation_p.Q836*|IFT122_uc003emp.2_Nonsense_Mutation_p.Q796*|IFT122_uc010htc.2_Nonsense_Mutation_p.Q939*|IFT122_uc011bky.1_Nonsense_Mutation_p.Q737*|IFT122_uc003emq.2_Nonsense_Mutation_p.Q786*|IFT122_uc003emr.2_Nonsense_Mutation_p.Q699*|IFT122_uc011bla.1_Nonsense_Mutation_p.Q720*|IFT122_uc010hte.2_Nonsense_Mutation_p.Q272*|IFT122_uc003ems.2_Nonsense_Mutation_p.Q328*|IFT122_uc011bkx.1_Nonsense_Mutation_p.Q787*|IFT122_uc010htd.1_Nonsense_Mutation_p.Q425* NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 946 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 CTACCACTTCCAGCGTTTGGC 0.572 113 123 --- --- --- --- PASS CPNE4 131034 broad.mit.edu 37 3 131261514 131261514 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:131261514C>T uc003eok.2 - 15 1861 c.1426G>A c.(1426-1428)GAC>AAC p.D476N CPNE4_uc011blq.1_Missense_Mutation_p.D494N|CPNE4_uc003eol.2_Missense_Mutation_p.D494N|CPNE4_uc003eom.2_Missense_Mutation_p.D476N|CPNE4_uc003eoj.2_Missense_Mutation_p.D27N NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 476 VWFA. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCACTGAAGTCAGCGTTCCCT 0.562 37 149 --- --- --- --- PASS RBP2 5948 broad.mit.edu 37 3 139173596 139173596 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:139173596C>T uc003eth.2 - 3 380 c.329G>A c.(328-330)TGG>TAG p.W110* NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 110 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) CCCCTCAATCCACTGCTTCCA 0.532 121 169 --- --- --- --- PASS TRPC1 7220 broad.mit.edu 37 3 142503613 142503613 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:142503613G>T uc003evc.2 + 7 1164 c.1028G>T c.(1027-1029)CGA>CTA p.R343L TRPC1_uc003evb.2_Missense_Mutation_p.R309L NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 343 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 TCGGGTTACCGACGCAAGCCC 0.418 127 52 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150906168 150906168 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:150906168G>A uc003eyp.2 + 12 1692 c.1654G>A c.(1654-1656)GAG>AAG p.E552K MED12L_uc011bnz.1_Missense_Mutation_p.E412K|MED12L_uc003eyn.2_Missense_Mutation_p.E552K|MED12L_uc003eyo.2_Missense_Mutation_p.E552K NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 552 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTCTTAGATGAGAAGGAGTC 0.348 53 188 --- --- --- --- PASS KPNA4 3840 broad.mit.edu 37 3 160219934 160219934 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:160219934G>A uc003fdn.2 - 17 1830 c.1524C>T c.(1522-1524)TTC>TTT p.F508F NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 508 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) CAGATGAATTGAAACCAAATG 0.338 88 399 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169546552 169546552 + Silent SNP T C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:169546552T>C uc003fgb.2 + 2 1026 c.1026T>C c.(1024-1026)CCT>CCC p.P342P NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 342 LRR 14. 0 TCTAGTTACCTTCAGAATTGG 0.378 6 256 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 85 103 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:178938934G>A uc003fjk.2 + 14 2333 c.2176G>A c.(2176-2178)GAA>AAA p.E726K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 726 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E726K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAGAAGGATGAAACACAAAA 0.363 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 16 124 --- --- --- --- PASS KLHL24 54800 broad.mit.edu 37 3 183382716 183382716 + Silent SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:183382716A>G uc003flv.2 + 5 1408 c.1113A>G c.(1111-1113)AGA>AGG p.R371R KLHL24_uc003flw.2_Silent_p.R371R|KLHL24_uc003flx.2_Silent_p.R371R NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 371 Kelch 2. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AAGGTGGAAGAATCAACAGCC 0.403 48 513 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183528294 183528294 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:183528294C>T uc003fly.2 + 31 4387 c.4192C>T c.(4192-4194)CAC>TAC p.H1398Y NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1398 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAGTAATATTCACCAGGCCAT 0.413 22 104 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 184002858 184002858 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:184002858G>A uc003fni.3 + 9 1505 c.1467G>A c.(1465-1467)CAG>CAA p.Q489Q ECE2_uc011brh.1_Silent_p.Q342Q|ECE2_uc003fnl.3_Silent_p.Q417Q|ECE2_uc003fnm.3_Silent_p.Q371Q|ECE2_uc003fnk.3_Silent_p.Q342Q|ECE2_uc011bri.1_Silent_p.Q404Q|ECE2_uc010hxv.2_Silent_p.Q133Q NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 489 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTATTTGCAGCAGGTGTCAG 0.562 OREG0015945 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 389 --- --- --- --- PASS C3orf21 152002 broad.mit.edu 37 3 194991425 194991425 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr3:194991425C>T uc003fum.3 - 1 471 c.363G>A c.(361-363)GCG>GCA p.A121A NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 121 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) GTGAGCGCAGCGCGACGCGGG 0.687 56 24 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2306648 2306648 + Silent SNP G A A rs143269293 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:2306648G>A uc003gex.1 - 8 1738 c.1419C>T c.(1417-1419)CTC>CTT p.L473L ZFYVE28_uc011bvk.1_Silent_p.L403L|ZFYVE28_uc011bvl.1_Silent_p.L443L|ZFYVE28_uc003gew.1_Silent_p.L359L NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 473 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 TGGTGCCCGCGAGGCTGGCCC 0.682 4 142 --- --- --- --- PASS HSD17B11 51170 broad.mit.edu 37 4 88261719 88261719 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:88261719C>G uc003hqp.2 - 6 968 c.735G>C c.(733-735)AGG>AGC p.R245S NM_016245 NP_057329 Q8NBQ5 DHB11_HUMAN estradiol 17-beta-dehydrogenase 11 245 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity ovary(2) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) CATGCATCAGCCTGTTTACCA 0.403 21 76 --- --- --- --- PASS SMARCAD1 56916 broad.mit.edu 37 4 95200089 95200089 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:95200089C>G uc003htc.3 + 19 2561 c.2306C>G c.(2305-2307)ACA>AGA p.T769R SMARCAD1_uc003htb.3_Missense_Mutation_p.T771R|SMARCAD1_uc003htd.3_Missense_Mutation_p.T771R|SMARCAD1_uc010ila.2_Missense_Mutation_p.T634R|SMARCAD1_uc011cdw.1_Missense_Mutation_p.T339R NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 769 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAAAAAAACACAGAAATGTGC 0.323 9 49 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126412458 126412458 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:126412458G>T uc003ifj.3 + 17 14481 c.14481G>T c.(14479-14481)AGG>AGT p.R4827S FAT4_uc011cgp.1_Missense_Mutation_p.R3068S|FAT4_uc003ifi.1_Missense_Mutation_p.R2304S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4827 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTAGAACAAGGAATCCAGCGG 0.502 17 93 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134072188 134072188 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:134072188G>T uc003iha.2 + 1 1719 c.893G>T c.(892-894)CGG>CTG p.R298L uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R298L NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 298 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CCCCGGGCGCGGGAGCTTTTC 0.622 36 63 --- --- --- --- PASS NAA15 80155 broad.mit.edu 37 4 140264007 140264007 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:140264007C>T uc003ihu.1 + 5 686 c.430C>T c.(430-432)CGA>TGA p.R144* NM_057175 NP_476516 Q9BXJ9 NAA15_HUMAN NMDA receptor regulated 1 144 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding ovary(1)|skin(1) 2 ACTTCAGCTTCGACCTGCGCA 0.348 75 102 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G T T rs149680468 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:153247289G>T uc003ims.2 - 10 1662 c.1513C>A c.(1513-1515)CGC>AGC p.R505S FBXW7_uc011cii.1_Missense_Mutation_p.R505S|FBXW7_uc003imt.2_Missense_Mutation_p.R505S|FBXW7_uc011cih.1_Missense_Mutation_p.R329S|FBXW7_uc003imq.2_Missense_Mutation_p.R425S|FBXW7_uc003imr.2_Missense_Mutation_p.R387S NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 Mis|N|D|F colorectal|endometrial|T-ALL 56 78 --- --- --- --- PASS AADAT 51166 broad.mit.edu 37 4 170994374 170994374 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:170994374G>A uc003isr.2 - 5 909 c.567C>T c.(565-567)AAC>AAT p.N189N AADAT_uc003iss.2_Silent_p.N189N|AADAT_uc003ist.2_Silent_p.N193N NM_016228 NP_057312 Q8N5Z0 AADAT_HUMAN kynurenine aminotransferase II 189 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity 0 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATTTGGGGGTGTTTTTCTGGG 0.388 101 132 --- --- --- --- PASS CYP4V2 285440 broad.mit.edu 37 4 187130031 187130031 + Missense_Mutation SNP G A A rs138739819 byFrequency TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr4:187130031G>A uc003iyw.3 + 9 1407 c.1103G>A c.(1102-1104)CGT>CAT p.R368H CYP4V2_uc010ism.2_RNA NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, 368 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) AAGTCTGACCGTCCCGCTACA 0.468 63 101 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13793676 13793676 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:13793676G>C uc003jfd.2 - 49 8214 c.8172C>G c.(8170-8172)TTC>TTG p.F2724L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2724 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TAAATATAGAGAACTGCCTCT 0.502 Kartagener_syndrome 41 162 --- --- --- --- PASS CCDC125 202243 broad.mit.edu 37 5 68602672 68602672 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:68602672C>G uc003jvv.1 - 5 632 c.589G>C c.(589-591)GAG>CAG p.E197Q CCDC125_uc003jvx.1_Missense_Mutation_p.E196Q|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Missense_Mutation_p.E72Q NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 197 Potential. cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CAAGATTCCTCTATATTTTTA 0.269 58 88 --- --- --- --- PASS TMEM174 134288 broad.mit.edu 37 5 72469927 72469927 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:72469927G>A uc010izc.2 + 2 715 c.667G>A c.(667-669)GAA>AAA p.E223K NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 223 integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GACACAGCTGGAAGAGGAGGC 0.468 46 66 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79032599 79032599 + Nonsense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:79032599G>T uc003kgc.2 + 2 8083 c.8011G>T c.(8011-8013)GAA>TAA p.E2671* NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2671 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AGATCACAGTGAAGAAAAAGA 0.398 3 42 --- --- --- --- PASS MTX3 345778 broad.mit.edu 37 5 79284338 79284338 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:79284338G>A uc010jag.2 - 5 478 c.451C>T c.(451-453)CTC>TTC p.L151F MTX3_uc010jah.2_Missense_Mutation_p.L151F|MTX3_uc003kge.3_Missense_Mutation_p.L90F|MTX3_uc003kgf.1_5'Flank NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 151 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) CTGGTCAGGAGAATCCTATTC 0.463 9 19 --- --- --- --- PASS FER 2241 broad.mit.edu 37 5 108436132 108436132 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:108436132G>C uc003kop.1 + 17 2344 c.1960G>C c.(1960-1962)GAT>CAT p.D654H FER_uc011cvg.1_Missense_Mutation_p.D479H NM_005246 NP_005237 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 654 Protein kinase. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity lung(2)|stomach(1)|ovary(1)|kidney(1) 5 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) AAGGAAGAAGGATGAACTAAA 0.358 31 26 --- --- --- --- PASS SLC22A4 6583 broad.mit.edu 37 5 131630483 131630483 + Silent SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:131630483G>C uc003kwq.2 + 1 339 c.174G>C c.(172-174)CTG>CTC p.L58L uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 58 Extracellular (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CCGCGAACCTGAGCAGCGCCT 0.682 19 50 --- --- --- --- PASS PCDHB15 56121 broad.mit.edu 37 5 140626008 140626008 + Missense_Mutation SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:140626008A>G uc003lje.2 + 1 862 c.862A>G c.(862-864)ATA>GTA p.I288V NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 288 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCTCAGGAGATAGACAAACC 0.413 3 95 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140740504 140740504 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:140740504G>A uc003ljs.1 + 1 802 c.802G>A c.(802-804)GAC>AAC p.D268N PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.D268N NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 268 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACAGCCACCGACCGGGATGA 0.493 14 43 --- --- --- --- PASS PCDHGA6 56109 broad.mit.edu 37 5 140755477 140755477 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:140755477C>T uc003ljy.1 + 1 1827 c.1827C>T c.(1825-1827)CTC>CTT p.L609L 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_uc011dau.1_Silent_p.L609L NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 609 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCCTGCTCAAGGCCAGCG 0.692 10 104 --- --- --- --- PASS DBN1 1627 broad.mit.edu 37 5 176884741 176884741 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:176884741G>C uc003mgy.2 - 13 1966 c.1794C>G c.(1792-1794)TTC>TTG p.F598L DBN1_uc011dga.1_Missense_Mutation_p.F330L|DBN1_uc003mgx.2_Missense_Mutation_p.F600L|DBN1_uc010jkn.1_Missense_Mutation_p.F548L NM_004395 NP_004386 Q16643 DREB_HUMAN drebrin 1 isoform a 598 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|ovary(1)|lung(1)|skin(1) 6 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GTGATTGACTGAAGTACCCCT 0.597 OREG0016462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 24 --- --- --- --- PASS C5orf45 51149 broad.mit.edu 37 5 179264608 179264608 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr5:179264608G>A uc003mla.2 - 7 859 c.815C>T c.(814-816)TCA>TTA p.S272L SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.S217L|C5orf45_uc003mlb.2_Missense_Mutation_p.S138L NM_016175 NP_057259 Q6NTE8 CE045_HUMAN hypothetical protein LOC51149 isoform 1 272 0 GCCTTCTCTTGAGGCCTGTGC 0.627 32 62 --- --- --- --- PASS SERPINB1 1992 broad.mit.edu 37 6 2840762 2840762 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:2840762C>T uc003mub.2 - 2 103 c.59G>A c.(58-60)AGT>AAT p.S20N SERPINB1_uc003muc.2_Translation_Start_Site NM_030666 NP_109591 P30740 ILEU_HUMAN serine (or cysteine) proteinase inhibitor, clade 20 regulation of proteolysis cytoplasm|extracellular space serine-type endopeptidase inhibitor activity breast(4)|ovary(1) 5 Ovarian(93;0.0412) OV - Ovarian serous cystadenocarcinoma(45;0.0717) ATTGTTCTCACTCAACGCCAG 0.537 37 33 --- --- --- --- PASS SLC17A1 6568 broad.mit.edu 37 6 25826862 25826862 + Splice_Site SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:25826862C>T uc003nfh.3 - 3 151 c.35_splice c.e3-1 p.V12_splice SLC17A1_uc011djy.1_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V10_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 AAACCTGGAACTACAAAGTAA 0.398 6 43 --- --- --- --- PASS HIST1H3F 8968 broad.mit.edu 37 6 26250542 26250542 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:26250542C>T uc003nhg.1 - 1 294 c.292G>A c.(292-294)GAG>AAG p.E98K HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 AGGTAAGCCTCGCAGGCCTCC 0.602 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 102 --- --- --- --- PASS OR2B3 442184 broad.mit.edu 37 6 29054567 29054567 + Silent SNP G A A rs139179669 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:29054567G>A uc003nlx.2 - 1 524 c.459C>T c.(457-459)TTC>TTT p.F153F NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, p.F153F(1) skin(1) 1 CTGAGTTGCCGAAACCAATGA 0.488 25 41 --- --- --- --- PASS AIF1 199 broad.mit.edu 37 6 31584147 31584147 + Nonsense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:31584147G>T uc003nuy.2 + 5 297 c.223G>T c.(223-225)GAG>TAG p.E75* AIF1_uc010jsy.2_Nonsense_Mutation_p.E87*|AIF1_uc003nva.2_Nonsense_Mutation_p.E21* NM_001623 NP_001614 P55008 AIF1_HUMAN allograft inflammatory factor 1 isoform 3 75 EF-hand 1. actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding ovary(1) 1 ACGAATGCTGGAGAAACTTGG 0.542 34 61 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32014110 32014110 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:32014110T>A uc003nzl.2 - 31 10644 c.10442A>T c.(10441-10443)TAC>TTC p.Y3481F TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3528 Fibronectin type-III 27. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CGTGTCCCTGTACTGGACCAC 0.642 7 51 --- --- --- --- PASS FKBPL 63943 broad.mit.edu 37 6 32096798 32096798 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:32096798G>A uc003nzr.2 - 2 1030 c.760C>T c.(760-762)CTT>TTT p.L254F ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank NM_022110 NP_071393 Q9UIM3 FKBPL_HUMAN WAF-1/CIP1 stabilizing protein 39 254 TPR 2. response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 TTGGCATGAAGGACAGTTCGT 0.592 52 94 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33133329 33133329 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:33133329C>T uc003ocx.1 - 63 4975 c.4747G>A c.(4747-4749)GAT>AAT p.D1583N COL11A2_uc010jul.1_Missense_Mutation_p.D153N|COL11A2_uc003ocy.1_Missense_Mutation_p.D1497N|COL11A2_uc003ocz.1_Missense_Mutation_p.D1476N NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 1583 Fibrillar collagen NC1. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CACTGACCATCGGGAAGCTCT 0.532 86 115 --- --- --- --- PASS PPIL1 51645 broad.mit.edu 37 6 36823644 36823644 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:36823644G>A uc003omu.2 - 4 698 c.446C>T c.(445-447)TCC>TTC p.S149F NM_016059 NP_057143 Q9Y3C6 PPIL1_HUMAN peptidylprolyl isomerase-like 1 149 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 GCGGTCCTGGGAGTTTGTTTC 0.547 49 94 --- --- --- --- PASS FAM83B 222584 broad.mit.edu 37 6 54805161 54805161 + Silent SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:54805161G>T uc003pck.2 + 5 1508 c.1392G>T c.(1390-1392)CGG>CGT p.R464R NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 464 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CAAATGTTCGGAGGTCTTTTA 0.438 17 77 --- --- --- --- PASS MANEA 79694 broad.mit.edu 37 6 96053844 96053844 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:96053844G>C uc003poo.1 + 5 1092 c.952G>C c.(952-954)GAT>CAT p.D318H NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 318 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) AAGTGGTTTTGATGGAATTTA 0.348 29 42 --- --- --- --- PASS C6orf174 387104 broad.mit.edu 37 6 127797008 127797008 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:127797008C>G uc003qbd.2 - 6 3028 c.2163G>C c.(2161-2163)CAG>CAC p.Q721H C6orf174_uc003qbc.2_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 721 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CGTACTGCAGCTGCATGACCT 0.672 35 149 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129470193 129470193 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr6:129470193C>T uc003qbn.2 + 7 1084 c.979C>T c.(979-981)CAG>TAG p.Q327* LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q327* NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 327 Laminin EGF-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGGATTCCATCAGAAACCCTG 0.403 76 87 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7612875 7612875 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:7612875G>C uc003srf.2 + 4 1077 c.769G>C c.(769-771)GAG>CAG p.E257Q MIOS_uc010ktp.1_Missense_Mutation_p.E257Q NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 257 WD 4. 0 TAGAAAATTTGAGAAGCCAGT 0.433 59 86 --- --- --- --- PASS EVX1 2128 broad.mit.edu 37 7 27285874 27285874 + Missense_Mutation SNP T C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:27285874T>C uc003szd.1 + 3 1540 c.1054T>C c.(1054-1056)TGT>CGT p.C352R EVX1_uc011jzn.1_Missense_Mutation_p.C170R|EVX1_uc010kuy.1_3'UTR NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 352 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CTGCCTCGCCTGTCACAGCGG 0.766 2 6 --- --- --- --- PASS MCM7 4176 broad.mit.edu 37 7 99696789 99696789 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:99696789G>A uc003usw.1 - 5 949 c.439C>T c.(439-441)CGT>TGT p.R147C MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 147 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CGGATCACACGAGGCTTGTTG 0.517 59 76 --- --- --- --- PASS IRF5 3663 broad.mit.edu 37 7 128587850 128587850 + Silent SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:128587850C>G uc003vog.2 + 8 946 c.825C>G c.(823-825)CCC>CCG p.P275P IRF5_uc003voh.2_Silent_p.P259P|IRF5_uc010llt.2_Silent_p.P183P|IRF5_uc003voi.2_Silent_p.P259P|IRF5_uc003voj.3_Silent_p.P259P|IRF5_uc010llw.1_3'UTR NM_002200 NP_002191 Q13568 IRF5_HUMAN interferon regulatory factor 5 isoform a 269 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TCAGCAACCCCCATGGCTGCC 0.657 3 22 --- --- --- --- PASS TSPAN33 340348 broad.mit.edu 37 7 128807655 128807655 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:128807655C>T uc003vop.1 + 8 1021 c.792C>T c.(790-792)ATC>ATT p.I264I TSPAN33_uc003voq.1_Silent_p.I96I NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 264 Cytoplasmic (Potential). integral to membrane ovary(1) 1 TGAATCAGATCAAAGATCAGA 0.527 17 8 --- --- --- --- PASS ZYX 7791 broad.mit.edu 37 7 143079462 143079462 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:143079462G>A uc003wcw.2 + 3 485 c.330G>A c.(328-330)GAG>GAA p.E110E ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Silent_p.E110E|ZYX_uc011kte.1_Silent_p.E110E|ZYX_uc011ktf.1_5'UTR NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 110 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) CGCCTCTGGAGGAGGAGATCT 0.706 5 15 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150923419 150923419 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:150923419C>A uc003wjp.2 - 2 237 c.126G>T c.(124-126)AAG>AAT p.K42N ABCF2_uc003wjo.1_Missense_Mutation_p.K42N NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 42 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGCCTCATTCTTCTCTGCCA 0.517 39 140 --- --- --- --- PASS ABCF2 10061 broad.mit.edu 37 7 150923420 150923420 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr7:150923420T>A uc003wjp.2 - 2 236 c.125A>T c.(124-126)AAG>ATG p.K42M ABCF2_uc003wjo.1_Missense_Mutation_p.K42M NM_007189 NP_009120 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F, member 2 42 ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCCTCATTCTTCTCTGCCAC 0.517 39 137 --- --- --- --- PASS HR 55806 broad.mit.edu 37 8 21982982 21982982 + Missense_Mutation SNP T G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:21982982T>G uc003xas.2 - 5 2257 c.1592A>C c.(1591-1593)GAC>GCC p.D531A HR_uc003xat.2_Missense_Mutation_p.D531A NM_005144 NP_005135 O43593 HAIR_HUMAN hairless protein isoform a 531 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|ovary(1) 2 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTGGCTGTGTCTTCCTCCTG 0.682 10 13 --- --- --- --- PASS LOXL2 4017 broad.mit.edu 37 8 23186002 23186002 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:23186002C>T uc003xdh.1 - 6 1382 c.1043G>A c.(1042-1044)GGG>GAG p.G348E NM_002318 NP_002309 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 precursor 348 SRCR 3. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|ovary(1) 3 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) GCAGACGGTCCCCCATTCTCC 0.627 18 53 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35624453 35624453 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:35624453C>T uc003xjr.1 + 15 2675 c.2347C>T c.(2347-2349)CGG>TGG p.R783W UNC5D_uc003xjs.1_Missense_Mutation_p.R778W|UNC5D_uc003xju.1_Missense_Mutation_p.R359W NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 783 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GTGCAGTAACCGGCAGCCCCT 0.582 28 19 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59410984 59410984 + Missense_Mutation SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:59410984A>G uc003xtm.3 - 2 188 c.125T>C c.(124-126)CTG>CCG p.L42P NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 42 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGCACAGCCCAGGTATGGAAT 0.408 Neonatal_Giant_Cell_Hepatitis 27 282 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59410985 59410985 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:59410985G>T uc003xtm.3 - 2 187 c.124C>A c.(124-126)CTG>ATG p.L42M NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 42 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) GCACAGCCCAGGTATGGAATT 0.408 Neonatal_Giant_Cell_Hepatitis 27 279 --- --- --- --- PASS OSGIN2 734 broad.mit.edu 37 8 90926317 90926317 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:90926317C>T uc003yeg.2 + 3 426 c.80C>T c.(79-81)TCA>TTA p.S27L OSGIN2_uc003yeh.2_Missense_Mutation_p.S71L NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 27 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) AATGGACCCTCAGGAATATGC 0.289 76 308 --- --- --- --- PASS COX6C 1345 broad.mit.edu 37 8 100904230 100904230 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:100904230G>A uc003yiy.1 - 2 80 c.20C>T c.(19-21)CCA>CTA p.P7L NM_004374 NP_004365 P09669 COX6C_HUMAN cytochrome c oxidase subunit VIc proprotein 7 Mitochondrial matrix (By similarity). respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity HMGA2/COX6C(2) soft_tissue(2) 2 all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CCGAGGTTTTGGCAAAACTTC 0.363 T HMGA2 uterine leiomyoma 141 92 --- --- --- --- PASS RGS22 26166 broad.mit.edu 37 8 101054100 101054100 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:101054100G>C uc003yjb.1 - 12 2063 c.1868C>G c.(1867-1869)TCT>TGT p.S623C RGS22_uc003yja.1_Missense_Mutation_p.S442C|RGS22_uc003yjc.1_Missense_Mutation_p.S611C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 623 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTCAGTAAAAGATGTTAAATG 0.353 43 51 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101146458 101146458 + Silent SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:101146458T>A uc003yjd.2 - 4 2522 c.1809A>T c.(1807-1809)GGA>GGT p.G603G FBXO43_uc003yje.2_Silent_p.G569G NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 603 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCAAAACTTCTCCCCAGGGAG 0.408 22 206 --- --- --- --- PASS FBXO43 286151 broad.mit.edu 37 8 101146459 101146459 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:101146459C>A uc003yjd.2 - 4 2521 c.1808G>T c.(1807-1809)GGA>GTA p.G603V FBXO43_uc003yje.2_Missense_Mutation_p.G569V NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 603 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CAAAACTTCTCCCCAGGGAGA 0.413 24 208 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 144997746 144997746 + Silent SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:144997746C>A uc003zaf.1 - 31 6932 c.6762G>T c.(6760-6762)CTG>CTT p.L2254L PLEC_uc003zab.1_Silent_p.L2117L|PLEC_uc003zac.1_Silent_p.L2121L|PLEC_uc003zad.2_Silent_p.L2117L|PLEC_uc003zae.1_Silent_p.L2085L|PLEC_uc003zag.1_Silent_p.L2095L|PLEC_uc003zah.2_Silent_p.L2103L|PLEC_uc003zaj.2_Silent_p.L2144L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2254 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCGACTGCTTCAGCCGCTCGG 0.761 20 35 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145151959 145151959 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:145151959G>C uc003zaz.3 + 6 838 c.795G>C c.(793-795)CAG>CAC p.Q265H CYC1_uc003zay.2_Missense_Mutation_p.Q206H NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 265 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCATGTCCCAGATAGCCAAGG 0.582 16 12 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145152203 145152203 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:145152203G>A uc003zaz.3 + 7 985 c.942G>A c.(940-942)CTG>CTA p.L314L CYC1_uc003zay.2_Silent_p.L255L NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 314 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTCAGTCCTGAAGAGTCGGA 0.577 40 30 --- --- --- --- PASS NFKBIL2 4796 broad.mit.edu 37 8 145659005 145659005 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr8:145659005C>T uc011llg.1 - 22 3540 c.3525G>A c.(3523-3525)CTG>CTA p.L1175L uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1175 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCTGGTGGCTCAGAAAGAAGC 0.642 43 141 --- --- --- --- PASS ZNF658 26149 broad.mit.edu 37 9 40772474 40772474 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:40772474C>A uc004abs.2 - 5 2953 c.2801G>T c.(2800-2802)GGG>GTG p.G934V ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G934V NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGGTTTCTCCCCCGTATGAAC 0.438 47 323 --- --- --- --- PASS ZNF658 26149 broad.mit.edu 37 9 40772516 40772516 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:40772516G>A uc004abs.2 - 5 2911 c.2759C>T c.(2758-2760)TCT>TTT p.S920F ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.S920F NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 920 C2H2-type 20. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TGACTTCTCAGAGAAGGTTTT 0.453 45 296 --- --- --- --- PASS C9orf125 84302 broad.mit.edu 37 9 104239109 104239109 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:104239109G>A uc004bbm.2 - 2 588 c.266C>T c.(265-267)TCA>TTA p.S89L uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 89 integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) AATGGGCACTGAGCCATTGGC 0.577 17 51 --- --- --- --- PASS CTNNAL1 8727 broad.mit.edu 37 9 111734973 111734973 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:111734973C>T uc004bdo.1 - 9 1371 c.1329G>A c.(1327-1329)CAG>CAA p.Q443Q CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.Q443Q|CTNNAL1_uc004bdp.1_Silent_p.Q443Q|CTNNAL1_uc004bdq.1_5'UTR NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 443 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) GCTGCTCTTTCTGTTCAGAGA 0.343 63 78 --- --- --- --- PASS QSOX2 169714 broad.mit.edu 37 9 139103153 139103153 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:139103153G>A uc010nbi.2 - 11 1544 c.1506C>T c.(1504-1506)CTC>CTT p.L502L NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 precursor 502 ERV/ALR sulfhydryl oxidase. cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity ovary(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TCCACAGCCAGAGGATGGCTT 0.572 39 64 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139282968 139282968 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:139282968C>T uc004chh.2 - 10 1060 c.1051G>A c.(1051-1053)GAG>AAG p.E351K NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 351 Myb-like 2. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) TCCTCCTCCTCTGTCCACTCC 0.612 42 61 --- --- --- --- PASS C9orf173 441476 broad.mit.edu 37 9 140146534 140146534 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:140146534G>C uc004cmk.1 + 3 359 c.347G>C c.(346-348)CGA>CCA p.R116P C9orf173_uc004cmj.1_Missense_Mutation_p.R117P|C9orf173_uc011meu.1_Intron|C9orf173_uc010ncd.1_Intron|C9orf173_uc011mev.1_Missense_Mutation_p.R116P|C9orf173_uc004cml.1_Missense_Mutation_p.R116P Q8N7X2 CI173_HUMAN SubName: Full=LOC441476 protein; 117 pancreas(1) 1 CCGTCCGTACGAGAGTCCTCC 0.672 24 40 --- --- --- --- PASS COBRA1 25920 broad.mit.edu 37 9 140150507 140150507 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr9:140150507G>A uc004cmm.3 + 2 454 c.251G>A c.(250-252)GGG>GAG p.G84E NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 84 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) GCTTCGGAGGGGAAGGCTGAG 0.617 17 119 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27389215 27389215 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:27389215C>G uc001ith.2 - 1 213 c.41G>C c.(40-42)GGC>GCC p.G14A ANKRD26_uc009xku.1_Missense_Mutation_p.G14A NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 14 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CGCGAAGGAGCCCAAGGGCGA 0.667 12 39 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27389216 27389216 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:27389216C>A uc001ith.2 - 1 212 c.40G>T c.(40-42)GGC>TGC p.G14C ANKRD26_uc009xku.1_Missense_Mutation_p.G14C NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 14 centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GCGAAGGAGCCCAAGGGCGAC 0.667 13 39 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38345001 38345001 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:38345001C>T uc001izh.2 + 5 2124 c.1946C>T c.(1945-1947)TCA>TTA p.S649L ZNF33A_uc001izg.2_Missense_Mutation_p.S650L|ZNF33A_uc010qev.1_Missense_Mutation_p.S656L|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 649 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TGCCATAAGTCAGCTCTAATT 0.378 84 32 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49430397 49430397 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:49430397C>A uc001jgi.2 - 12 1521 c.1414G>T c.(1414-1416)GTC>TTC p.V472F FRMPD2_uc001jgh.2_Missense_Mutation_p.V441F|FRMPD2_uc001jgj.2_Missense_Mutation_p.V450F NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 472 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) AAGGCAAGGACCCCCAGCTGC 0.532 14 245 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73574711 73574711 + Silent SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:73574711G>C uc001jrx.3 + 68 10118 c.9741G>C c.(9739-9741)CTG>CTC p.L3247L CDH23_uc001jsg.3_Silent_p.L1007L|CDH23_uc001jsh.3_Silent_p.L972L|CDH23_uc001jsi.3_Silent_p.L972L|CDH23_uc001jsj.3_Silent_p.L144L|CDH23_uc010qjr.1_Silent_p.L109L NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 3247 Cytoplasmic (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 TCTTGCAGCTGATACAGACTG 0.652 6 18 --- --- --- --- PASS USP54 159195 broad.mit.edu 37 10 75276202 75276202 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:75276202G>T uc001juo.2 - 18 3999 c.3982C>A c.(3982-3984)CAG>AAG p.Q1328K USP54_uc010qkk.1_Missense_Mutation_p.Q510K|USP54_uc001juk.2_Missense_Mutation_p.Q416K|USP54_uc001jul.2_Missense_Mutation_p.Q416K|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 1328 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) TGAGAAGCCTGAAGACTGGCC 0.532 46 62 --- --- --- --- PASS KCNMA1 3778 broad.mit.edu 37 10 79011015 79011015 + Splice_Site SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:79011015C>T uc001jxn.2 - 3 718 c.541_splice c.e3-1 p.V181_splice KCNMA1_uc001jxj.2_Splice_Site_p.V181_splice|KCNMA1_uc009xrt.1_Splice_Site|KCNMA1_uc001jxo.2_Splice_Site_p.V181_splice|KCNMA1_uc001jxm.2_Splice_Site_p.V181_splice|KCNMA1_uc001jxq.2_Splice_Site_p.V181_splice NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CTAAGACAACCTGTAAAAGAA 0.398 OREG0020289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 35 --- --- --- --- PASS ANXA11 311 broad.mit.edu 37 10 81917738 81917738 + Silent SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:81917738G>T uc001kbq.1 - 15 2145 c.1320C>A c.(1318-1320)CTC>CTA p.L440L ANXA11_uc010qlx.1_Silent_p.L540L|ANXA11_uc001kbr.1_Silent_p.L440L|ANXA11_uc001kbs.1_Silent_p.L440L|ANXA11_uc001kbt.1_Silent_p.L440L|ANXA11_uc010qly.1_Silent_p.L407L|ANXA11_uc009xsq.1_Silent_p.L444L|ANXA11_uc001kbu.1_Silent_p.L440L NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 440 Annexin 4. cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) TGGCCTTGTTGAGCCTCTCCG 0.537 13 87 --- --- --- --- PASS HPSE2 60495 broad.mit.edu 37 10 100481512 100481512 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:100481512C>T uc001kpn.1 - 5 918 c.858G>A c.(856-858)CTG>CTA p.L286L HPSE2_uc009xwc.1_Silent_p.L276L|HPSE2_uc001kpo.1_Silent_p.L218L|HPSE2_uc009xwd.1_Silent_p.L164L NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 286 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) ACAGGCTCTTCAGCTGGATGT 0.498 77 90 --- --- --- --- PASS NT5C2 22978 broad.mit.edu 37 10 104865481 104865481 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:104865481C>G uc001kwo.2 - 6 557 c.371G>C c.(370-372)GGA>GCA p.G124A NT5C2_uc010qqp.1_Missense_Mutation_p.G95A|NT5C2_uc001kwq.2_Missense_Mutation_p.G124A|NT5C2_uc001kwp.2_5'UTR NM_012229 NP_036361 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 124 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding 0 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) AAAGTTAAATCCATGTGCACA 0.378 53 81 --- --- --- --- PASS ATE1 11101 broad.mit.edu 37 10 123658405 123658405 + Missense_Mutation SNP T C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:123658405T>C uc001lfp.2 - 7 975 c.893A>G c.(892-894)TAT>TGT p.Y298C ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Missense_Mutation_p.Y202C|ATE1_uc010qtt.1_Missense_Mutation_p.Y291C|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN arginyltransferase 1 isoform 2 298 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity 0 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) GGCCACTTGATACTTGACATA 0.438 42 68 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127824200 127824200 + Silent SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr10:127824200C>A uc001ljk.2 - 5 791 c.378G>T c.(376-378)CGG>CGT p.R126R ADAM12_uc010qul.1_Silent_p.R123R|ADAM12_uc001ljm.2_Silent_p.R126R|ADAM12_uc001ljn.2_Silent_p.R123R|ADAM12_uc001ljl.3_Silent_p.R123R NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 126 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CAGAATATCCCCGTACATGTC 0.468 7 58 --- --- --- --- PASS PKP3 11187 broad.mit.edu 37 11 399030 399030 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:399030C>T uc001lpc.2 + 5 1183 c.1107C>T c.(1105-1107)CTC>CTT p.L369L NM_007183 NP_009114 Q9Y446 PKP3_HUMAN plakophilin 3 369 ARM 2. cell adhesion desmosome|nucleus binding skin(1) 1 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTGAAGCTCTTCAACCACG 0.612 15 87 --- --- --- --- PASS OR52R1 119695 broad.mit.edu 37 11 4825572 4825572 + Silent SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:4825572C>A uc010qym.1 - 1 276 c.276G>T c.(274-276)GTG>GTT p.V92V NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 13 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGATGAAGGACACAGGATGAG 0.488 3 70 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26465322 26465322 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:26465322G>A uc001mqt.3 + 3 397 c.252G>A c.(250-252)GAG>GAA p.E84E ANO3_uc010rdr.1_Silent_p.E68E NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 84 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTAATACTGAGGAGAATAAAA 0.343 16 57 --- --- --- --- PASS MPPED2 744 broad.mit.edu 37 11 30439182 30439182 + Splice_Site SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:30439182T>A uc001msr.2 - 4 657 c.537_splice c.e4-1 p.W179_splice MPPED2_uc001msq.3_Splice_Site_p.W179_splice|MPPED2_uc009yji.2_Splice_Site_p.W53_splice NM_001584 NP_001575 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 nervous system development hydrolase activity|metal ion binding skin(1) 1 CACGGGGTCCTTTGGGGGAGA 0.532 10 33 --- --- --- --- PASS ARFGAP2 84364 broad.mit.edu 37 11 47188385 47188385 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:47188385C>T uc001ndt.2 - 13 1273 c.1258G>A c.(1258-1260)GAG>AAG p.E420K ARFGAP2_uc010rha.1_Missense_Mutation_p.E151K|ARFGAP2_uc010rhb.1_Missense_Mutation_p.E392K|ARFGAP2_uc001ndu.2_Missense_Mutation_p.E284K|ARFGAP2_uc010rhc.1_Missense_Mutation_p.E151K NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 420 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TGACGCGCCTCACTAGACTCG 0.567 138 188 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56954921 56954921 + Silent SNP C A A rs142633236 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:56954921C>A uc001njl.1 + 2 1140 c.993C>A c.(991-993)CGC>CGA p.R331R LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 301 integral to membrane 0 GCTGCCACCGCTGGAGCAAGG 0.587 5 52 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56954922 56954922 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:56954922T>A uc001njl.1 + 2 1141 c.994T>A c.(994-996)TGG>AGG p.W332R LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 302 integral to membrane 0 CTGCCACCGCTGGAGCAAGGC 0.587 5 51 --- --- --- --- PASS PRG3 10394 broad.mit.edu 37 11 57148124 57148124 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:57148124G>A uc001njv.1 - 2 168 c.58C>T c.(58-60)CTG>TTG p.L20L NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 precursor 20 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding 0 GACTTACCCAGATGAAGAGCA 0.507 6 13 --- --- --- --- PASS DTX4 23220 broad.mit.edu 37 11 58949569 58949569 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:58949569C>T uc001nns.2 + 2 826 c.569C>T c.(568-570)TCC>TTC p.S190F DTX4_uc001nnr.2_Missense_Mutation_p.S84F NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 190 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) TCCCCCTGCTCCTGTCCCCAG 0.632 23 25 --- --- --- --- PASS ZP1 22917 broad.mit.edu 37 11 60638697 60638697 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:60638697G>T uc001nqd.2 + 6 1042 c.1022G>T c.(1021-1023)GGC>GTC p.G341V ZP1_uc001nqe.2_Missense_Mutation_p.G48V NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 341 Extracellular (Potential).|ZP. single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 CAGGTGGCTGGCGACCAGCTC 0.607 15 48 --- --- --- --- PASS CD6 923 broad.mit.edu 37 11 60780938 60780938 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:60780938G>A uc001nqq.2 + 7 1417 c.1194G>A c.(1192-1194)GAG>GAA p.E398E CD6_uc009yni.2_Silent_p.E297E|CD6_uc009ynj.2_Silent_p.E275E|CD6_uc001nqp.2_Silent_p.E398E|CD6_uc001nqr.2_Silent_p.E398E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.E398E NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 398 Extracellular (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 AATCTCGGGAGCTAATGCTCC 0.438 75 258 --- --- --- --- PASS ESRRA 2101 broad.mit.edu 37 11 64083327 64083327 + Silent SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:64083327C>A uc001nzq.1 + 7 1338 c.1161C>A c.(1159-1161)CTC>CTA p.L387L ESRRA_uc001nzr.1_Silent_p.L386L|ESRRA_uc001nzs.1_Silent_p.L387L|PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 387 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 CGCTACCGCTCCTCCGCCAGA 0.677 18 38 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65270077 65270077 + RNA SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:65270077G>A uc010roh.1 + 1 c.4845G>A uc001ody.2_RNA|MALAT1_uc001odz.2_Intron NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 TTTTGTTGATGAGGGAGGGGA 0.343 25 43 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82876801 82876801 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:82876801C>T uc001ozx.3 + 5 1207 c.862C>T c.(862-864)CAG>TAG p.Q288* PCF11_uc010rsu.1_Nonsense_Mutation_p.Q288* NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 288 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CTTACAAATTCAGGATTTAAA 0.423 9 16 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82877735 82877735 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:82877735C>T uc001ozx.3 + 5 2141 c.1796C>T c.(1795-1797)TCT>TTT p.S599F PCF11_uc010rsu.1_Missense_Mutation_p.S599F NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 599 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 AGATGGAAATCTGGTTGGGAA 0.333 38 86 --- --- --- --- PASS USP2 9099 broad.mit.edu 37 11 119243758 119243758 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr11:119243758C>T uc001pwm.3 - 2 728 c.433G>A c.(433-435)GAC>AAC p.D145N USP2_uc001pwn.3_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 145 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) CGGGCCAGGTCTGATTGGCTG 0.612 81 30 --- --- --- --- PASS B4GALNT3 283358 broad.mit.edu 37 12 662805 662805 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:662805G>C uc001qii.1 + 14 1716 c.1716G>C c.(1714-1716)CAG>CAC p.Q572H B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475H|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121H NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 572 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TCGCAGAGCAGAGACGGGGTG 0.637 31 59 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9225294 9225294 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:9225294C>T uc001qvk.1 - 30 4043 c.3930G>A c.(3928-3930)GGG>GGA p.G1310G A2M_uc001qvj.1_Silent_p.G352G|A2M_uc009zgk.1_Silent_p.G1160G NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1310 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TGCTGTATTCCCCAGGCAGCT 0.517 22 218 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13716391 13716391 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:13716391G>A uc001rbt.2 - 13 3960 c.3781C>T c.(3781-3783)CAG>TAG p.Q1261* NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1261 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCCAGTTCCTGCAGGGAGTTG 0.592 56 63 --- --- --- --- PASS PLEKHA5 54477 broad.mit.edu 37 12 19514590 19514590 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:19514590G>C uc001reb.2 + 23 3146 c.3060G>C c.(3058-3060)ATG>ATC p.M1020I PLEKHA5_uc010sie.1_Missense_Mutation_p.M1181I|PLEKHA5_uc001rea.2_Missense_Mutation_p.M1078I|PLEKHA5_uc009zin.2_Missense_Mutation_p.M778I|PLEKHA5_uc010sif.1_Missense_Mutation_p.M1009I|PLEKHA5_uc010sig.1_Missense_Mutation_p.M1002I|PLEKHA5_uc010sih.1_Missense_Mutation_p.M975I|PLEKHA5_uc001rec.1_Missense_Mutation_p.M829I|PLEKHA5_uc009zio.2_Missense_Mutation_p.M286I NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 1020 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) CTGTGGAAATGATGGATAAAG 0.294 19 34 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40618944 40618944 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:40618944G>A uc001rmg.3 + 1 132 c.11G>A c.(10-12)GGC>GAC p.G4D NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 4 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATGGCTAGTGGCAGCTGTCAG 0.607 17 21 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48516643 48516643 + Splice_Site SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:48516643G>T uc001rrc.2 + 2 255 c.85_splice c.e2+1 p.G29_splice PFKM_uc001rra.1_Splice_Site|PFKM_uc001rrb.1_Splice_Site_p.G100_splice|PFKM_uc001rrd.2_Splice_Site|PFKM_uc001rre.1_Splice_Site_p.G29_splice|PFKM_uc001rrg.1_Splice_Site_p.G29_splice NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GATGCCCAAGGTAAGGAGGAG 0.468 8 46 --- --- --- --- PASS TUBA1C 84790 broad.mit.edu 37 12 49666851 49666851 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:49666851G>A uc001rtt.1 + 4 1291 c.1191G>A c.(1189-1191)CTG>CTA p.L397L TUBA1C_uc001rts.2_Silent_p.L362L|TUBA1C_uc010smh.1_Silent_p.L467L|uc010smi.1_5'UTR NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 397 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 AGTTTGACCTGATGTATGCCA 0.587 50 59 --- --- --- --- PASS KRT84 3890 broad.mit.edu 37 12 52774241 52774241 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:52774241G>A uc001sah.1 - 7 1378 c.1330C>T c.(1330-1332)CAG>TAG p.Q444* NM_033045 NP_149034 Q9NSB2 KRT84_HUMAN keratin, hair, basic, 4 444 Rod.|Coil 2. keratin filament structural constituent of epidermis skin(1) 1 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCGCACAGCTGCCGCGCCATG 0.647 OREG0021848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 40 --- --- --- --- PASS COPZ1 22818 broad.mit.edu 37 12 54739300 54739300 + Splice_Site SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:54739300G>T uc001sfs.1 + 5 354 c.317_splice c.e5+1 p.R106_splice COPZ1_uc001sft.2_Splice_Site_p.R55_splice|COPZ1_uc009znm.1_Splice_Site_p.R114_splice|COPZ1_uc010sot.1_Splice_Site_p.R83_splice NM_016057 NP_057141 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol 0 AGATGCTGAGGTGAGCAGGAC 0.458 4 79 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57593029 57593029 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:57593029G>A uc001snd.2 + 61 10177 c.9711G>A c.(9709-9711)CTG>CTA p.L3237L NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 3237 LDL-receptor class B 29.|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) TCTTTGCACTGACCCTGTTTG 0.602 233 325 --- --- --- --- PASS GLI1 2735 broad.mit.edu 37 12 57861784 57861784 + Missense_Mutation SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:57861784A>G uc001snx.2 + 10 1163 c.1085A>G c.(1084-1086)TAT>TGT p.Y362C GLI1_uc009zpq.2_Missense_Mutation_p.Y234C NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 362 C2H2-type 5. epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CAGAAGCCGTATGTATGTAAG 0.507 30 41 --- --- --- --- PASS DYRK2 8445 broad.mit.edu 37 12 68051350 68051350 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:68051350G>T uc001str.3 + 3 1065 c.663G>T c.(661-663)AGG>AGT p.R221S DYRK2_uc001sts.3_Missense_Mutation_p.R148S NM_006482 NP_006473 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 221 apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(2)|breast(1)|central_nervous_system(1) 4 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TGGCTTACAGGTATGAGGTCC 0.562 5 63 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109623543 109623543 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:109623543G>A uc001tob.2 + 12 2097 c.1978G>A c.(1978-1980)GAG>AAG p.E660K ACACB_uc001toc.2_Missense_Mutation_p.E660K NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 660 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) AAACCCAGACGAGGCAAGTTA 0.478 14 44 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116549243 116549243 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:116549243G>A uc001tvw.2 - 3 440 c.385C>T c.(385-387)CTG>TTG p.L129L NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 129 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CTTTCTAACAGATTGTGGATC 0.368 39 62 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120582788 120582788 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:120582788C>T uc001txo.2 - 40 5107 c.5094G>A c.(5092-5094)CCG>CCA p.P1698P NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1698 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCATCAGCCACGGCAGCAAGT 0.612 36 77 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126068523 126068523 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:126068523G>A uc001uhe.1 + 5 1413 c.1405G>A c.(1405-1407)GAT>AAT p.D469N NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 469 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CAAGTCTGCCGATGAAGATGT 0.478 139 183 --- --- --- --- PASS TMEM132B 114795 broad.mit.edu 37 12 126138642 126138642 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr12:126138642C>T uc001uhe.1 + 9 2631 c.2623C>T c.(2623-2625)CAA>TAA p.Q875* TMEM132B_uc001uhf.1_Nonsense_Mutation_p.Q387* NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 875 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTTCCCCACTCAAGGGAAGTC 0.507 27 51 --- --- --- --- PASS ZMYM5 9205 broad.mit.edu 37 13 20413087 20413087 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr13:20413087G>A uc010tcn.1 - 5 890 c.625C>T c.(625-627)CAG>TAG p.Q209* ZMYM5_uc001umm.1_Nonsense_Mutation_p.Q33*|ZMYM5_uc001umn.2_Nonsense_Mutation_p.Q209*|ZMYM5_uc001umo.2_Intron NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 209 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) GGCTGTTTCTGATTACTGGGA 0.373 104 110 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 36124678 36124678 + Nonsense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr13:36124678C>G uc001uvb.2 + 42 6856 c.6650C>G c.(6649-6651)TCA>TGA p.S2217* NBEA_uc010abi.2_Nonsense_Mutation_p.S873*|NBEA_uc010tee.1_Nonsense_Mutation_p.S10*|NBEA_uc010tef.1_Nonsense_Mutation_p.S10*|NBEA_uc010teg.1_Nonsense_Mutation_p.S10* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2217 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCTGTATTTTCAAGACGTTAC 0.358 29 33 --- --- --- --- PASS RCBTB1 55213 broad.mit.edu 37 13 50134125 50134125 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr13:50134125G>A uc001vde.1 - 5 634 c.373C>T c.(373-375)CTC>TTC p.L125F NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 125 RCC1 2. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) TTGATCAAGAGATTGGTACAG 0.488 103 147 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108861930 108861930 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr13:108861930C>T uc001vqn.2 - 2 1960 c.1687G>A c.(1687-1689)GAG>AAG p.E563K LIG4_uc001vqo.2_Missense_Mutation_p.E563K|LIG4_uc010agg.1_Missense_Mutation_p.E496K|LIG4_uc010agf.2_Missense_Mutation_p.E563K|LIG4_uc001vqp.2_Missense_Mutation_p.E563K NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 563 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GGTACGATCTCTGCTGCTTTA 0.413 NHEJ 38 58 --- --- --- --- PASS F10 2159 broad.mit.edu 37 13 113798358 113798358 + Silent SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr13:113798358C>G uc001vsx.2 + 6 753 c.696C>G c.(694-696)CTC>CTG p.L232L F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.L232L|F10_uc001vsz.2_Silent_p.L232L NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 232 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ACAACAACCTCACCAGGATCG 0.617 52 77 --- --- --- --- PASS MMP14 4323 broad.mit.edu 37 14 23311854 23311854 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:23311854G>T uc001whc.2 + 4 850 c.616G>T c.(616-618)GGC>TGC p.G206C NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 206 Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) CTACTTCCCAGGCCCCAACAT 0.577 23 83 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23855739 23855739 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:23855739C>T uc001wjv.2 - 33 4811 c.4744G>A c.(4744-4746)GAC>AAC p.D1582N NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1582 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ATCTCCTCGTCCTTCTCTGCC 0.627 122 204 --- --- --- --- PASS LRRC16B 90668 broad.mit.edu 37 14 24526211 24526211 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:24526211T>A uc001wlj.2 + 13 1197 c.1040T>A c.(1039-1041)CTC>CAC p.L347H NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 347 LRR 4. ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) AATCCTGGGCTCCTCGCCACG 0.612 7 17 --- --- --- --- PASS MBIP 51562 broad.mit.edu 37 14 36780895 36780895 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:36780895C>G uc001wtm.2 - 6 762 c.674G>C c.(673-675)AGA>ACA p.R225T MBIP_uc001wto.2_Missense_Mutation_p.R225T|MBIP_uc010tpy.1_Missense_Mutation_p.R84T|MBIP_uc001wtn.2_Missense_Mutation_p.R225T NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 isoform 1 225 Interaction with MAP3K12. histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity 0 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) TCCTTCAGGTCTAGTCTGTGG 0.378 24 49 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64494261 64494261 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:64494261G>A uc001xgm.2 + 43 6694 c.6464G>A c.(6463-6465)AGA>AAA p.R2155K SYNE2_uc001xgl.2_Missense_Mutation_p.R2155K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2155 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAGGATCTGAGATTAATGCTC 0.308 14 112 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64494262 64494262 + Missense_Mutation SNP A T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:64494262A>T uc001xgm.2 + 43 6695 c.6465A>T c.(6463-6465)AGA>AGT p.R2155S SYNE2_uc001xgl.2_Missense_Mutation_p.R2155S NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2155 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGGATCTGAGATTAATGCTCA 0.308 14 113 --- --- --- --- PASS C14orf174 161394 broad.mit.edu 37 14 77845098 77845098 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:77845098G>C uc001xtq.1 + 1 1337 c.1337G>C c.(1336-1338)AGA>ACA p.R446T TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 446 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GAGCCTAAAAGAGGAAAGTTG 0.378 38 46 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95053973 95053973 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:95053973C>T uc001ydm.2 + 3 484 c.274C>T c.(274-276)CTG>TTG p.L92L SERPINA5_uc010ave.2_Silent_p.L92L|SERPINA5_uc001ydn.1_Silent_p.L92L NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 92 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) GATGCAGATCCTGGAGGGCCT 0.597 6 35 --- --- --- --- PASS NUDT14 256281 broad.mit.edu 37 14 105639498 105639498 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:105639498C>T uc010tyn.1 - 5 643 c.529G>A c.(529-531)GAG>AAG p.E177K NUDT14_uc001yqi.2_RNA NM_177533 NP_803877 O95848 NUD14_HUMAN nudix-type motif 14 177 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity skin(1) 1 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TCAATGAGCTCACCCTCCTCC 0.622 HNSCC(42;0.11) 33 36 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106311923 106311923 + RNA SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:106311923A>G uc010tyt.1 - 3608 c.57000T>C uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.I44T|uc001ysk.1_Missense_Mutation_p.I44T|uc001ysl.1_Missense_Mutation_p.I44T|uc001ysm.1_5'UTR|uc001ysn.1_5'UTR|uc001yso.1_5'UTR Parts of antibodies, mostly variable regions. 0 GTACCCAGTTATCAAGCATGC 0.562 39 58 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34130533 34130533 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:34130533G>A uc001zhi.2 + 89 12422 c.12352G>A c.(12352-12354)GAA>AAA p.E4118K RYR3_uc010bar.2_Missense_Mutation_p.E4113K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4118 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAGAAGATGAAGATTCTTC 0.478 83 111 --- --- --- --- PASS MGA 23269 broad.mit.edu 37 15 42053973 42053973 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:42053973G>A uc010ucy.1 + 21 7616 c.7435G>A c.(7435-7437)GAC>AAC p.D2479N MGA_uc010ucz.1_Missense_Mutation_p.D2270N|MGA_uc010uda.1_Missense_Mutation_p.D1095N NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 2440 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AGATCAGGCAGACAAATTGAT 0.373 5 9 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42742728 42742728 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:42742728C>A uc001zpw.2 - 2 2008 c.1673G>T c.(1672-1674)AGT>ATT p.S558I ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.S341I|ZFP106_uc001zpy.1_Missense_Mutation_p.S581I NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 558 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GTTCCTGGTACTTTTAGAAGT 0.363 32 196 --- --- --- --- PASS TP53BP1 7158 broad.mit.edu 37 15 43724535 43724535 + Missense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:43724535T>A uc001zrs.2 - 17 3665 c.3517A>T c.(3517-3519)ACT>TCT p.T1173S TP53BP1_uc010udp.1_Missense_Mutation_p.T1173S|TP53BP1_uc001zrq.3_Missense_Mutation_p.T1178S|TP53BP1_uc001zrr.3_Missense_Mutation_p.T1178S|TP53BP1_uc010udq.1_Missense_Mutation_p.T1178S NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 1173 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TTCTTTATAGTCTGGGTTGCT 0.483 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 4 137 --- --- --- --- PASS MYO5C 55930 broad.mit.edu 37 15 52486209 52486209 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:52486209C>T uc010bff.2 - 41 5256 c.5119G>A c.(5119-5121)GAT>AAT p.D1707N GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.1_RNA|uc002abv.2_Intron NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 1707 myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) TATTTGGTATCCAACATCAGC 0.418 5 125 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63054650 63054650 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:63054650C>G uc002alb.3 + 36 4959 c.4959C>G c.(4957-4959)ATC>ATG p.I1653M TLN2_uc002alc.3_Missense_Mutation_p.I46M|TLN2_uc002ald.2_Missense_Mutation_p.I46M NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1653 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 TCACTTCTATCAGGTCAGTTT 0.522 47 90 --- --- --- --- PASS HEXA 3073 broad.mit.edu 37 15 72643537 72643537 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:72643537C>T uc002aun.3 - 6 816 c.609G>A c.(607-609)TGG>TGA p.W203* uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Nonsense_Mutation_p.W214*|HEXA_uc002auo.3_Nonsense_Mutation_p.W66*|HEXA_uc010bix.2_Nonsense_Mutation_p.W203*|HEXA_uc010biy.2_Nonsense_Mutation_p.W66*|HEXA_uc010uko.1_Nonsense_Mutation_p.W29*|HEXA_uc010biz.1_RNA NM_000520 NP_000511 P06865 HEXA_HUMAN hexosaminidase A preproprotein 203 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity ovary(3)|upper_aerodigestive_tract(1) 4 CTACCAGATGCCAGTGGAACA 0.458 20 58 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77471836 77471836 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:77471836C>T uc002bcm.2 - 3 2741 c.2433G>A c.(2431-2433)AAG>AAA p.K811K SGK269_uc002bcn.2_Silent_p.K811K NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 811 Pro-rich. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) CTGGCGTACTCTTAGGTGTGC 0.502 58 75 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77473983 77473983 + Nonsense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:77473983C>A uc002bcm.2 - 3 594 c.286G>T c.(286-288)GAG>TAG p.E96* SGK269_uc002bcn.2_Nonsense_Mutation_p.E96* NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 96 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) GGTTTGTTCTCACAGTGTTCT 0.438 86 105 --- --- --- --- PASS WDR93 56964 broad.mit.edu 37 15 90270543 90270543 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:90270543G>A uc002boj.2 + 9 1137 c.1036G>A c.(1036-1038)GAG>AAG p.E346K WDR93_uc010bnr.2_Missense_Mutation_p.E346K|WDR93_uc010upz.1_Missense_Mutation_p.E63K NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN WD repeat domain 93 346 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH ovary(2) 2 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TAGGGAGTGGGAGGAAGAGCC 0.552 17 23 --- --- --- --- PASS C15orf51 196968 broad.mit.edu 37 15 100345119 100345119 + RNA SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr15:100345119C>T uc010urx.1 - 2 c.148G>A C15orf51_uc010ury.1_Intron|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_Intron|uc010box.2_5'Flank NR_003260 Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288. 0 AGTTAGCTCTCGGCACATGGT 0.418 39 83 --- --- --- --- PASS BAIAP3 8938 broad.mit.edu 37 16 1394611 1394611 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:1394611C>T uc002clk.1 + 19 1774 c.1774C>T c.(1774-1776)CAG>TAG p.Q592* BAIAP3_uc002clj.2_Nonsense_Mutation_p.Q574*|BAIAP3_uc010uuz.1_Nonsense_Mutation_p.Q557*|BAIAP3_uc010uva.1_Nonsense_Mutation_p.Q529*|BAIAP3_uc010uvc.1_Nonsense_Mutation_p.Q521* NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 592 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) GCCAGGACCACAGCGCCTGCC 0.642 73 374 --- --- --- --- PASS C16orf63 123811 broad.mit.edu 37 16 15978045 15978045 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:15978045C>T uc002dec.1 - 2 51 c.46G>A c.(46-48)GAA>AAA p.E16K C16orf63_uc002ded.1_Missense_Mutation_p.E16K NM_144600 NP_653201 Q96NB1 FOPNL_HUMAN hypothetical protein LOC123811 16 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding 0 CCCTTTTTTTCCAAGGTGTCC 0.373 34 64 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24909416 24909416 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:24909416G>A uc002dmu.2 + 10 1224 c.992G>A c.(991-993)CGC>CAC p.R331H SLC5A11_uc002dms.2_Missense_Mutation_p.R267H|SLC5A11_uc010vcd.1_Missense_Mutation_p.R296H|SLC5A11_uc002dmt.2_Silent_p.P198P|SLC5A11_uc010vce.1_Missense_Mutation_p.R261H|SLC5A11_uc010bxt.2_Missense_Mutation_p.R267H NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 331 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) ATGGTCAGCCGCATCCTCTTC 0.502 59 91 --- --- --- --- PASS RABEP2 79874 broad.mit.edu 37 16 28917057 28917057 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:28917057C>T uc002drq.2 - 11 1507 c.1459G>A c.(1459-1461)GAG>AAG p.E487K uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.E416K|RABEP2_uc010byn.2_Missense_Mutation_p.E451K NM_024816 NP_079092 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 487 Potential. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity ovary(1)|breast(1)|skin(1) 3 CGCTCCATCTCTGTCCTCAGG 0.672 37 46 --- --- --- --- PASS CD2BP2 10421 broad.mit.edu 37 16 30365571 30365571 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:30365571C>T uc002dxr.2 - 2 404 c.151G>A c.(151-153)GAG>AAG p.E51K CD2BP2_uc002dxs.2_Missense_Mutation_p.E51K NM_006110 NP_006101 O95400 CD2B2_HUMAN CD2 antigen (cytoplasmic tail) binding protein 51 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding ovary(1) 1 TCCTCCTCCTCATCGCTATCC 0.522 183 288 --- --- --- --- PASS HEATR3 55027 broad.mit.edu 37 16 50120226 50120226 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:50120226G>A uc002efw.2 + 11 1636 c.1474G>A c.(1474-1476)GCA>ACA p.A492T HEATR3_uc002efx.2_Missense_Mutation_p.A406T NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 492 binding ovary(1)|skin(1) 2 TCAGACGCTTGCACAGCATCT 0.498 10 13 --- --- --- --- PASS IRX5 10265 broad.mit.edu 37 16 54967521 54967521 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:54967521G>A uc002ehv.2 + 3 1188 c.1188G>A c.(1186-1188)ACG>ACA p.T396T IRX5_uc002ehw.2_Silent_p.T330T NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 396 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 CAGGCGGGACGGTGCTGTCCC 0.716 22 32 --- --- --- --- PASS CPNE2 221184 broad.mit.edu 37 16 57151476 57151476 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:57151476G>A uc002eks.1 + 5 733 c.504G>A c.(502-504)AAG>AAA p.K168K CPNE2_uc010cct.1_Silent_p.K194K|CPNE2_uc010ccu.1_Silent_p.K168K NM_152727 NP_689940 Q96FN4 CPNE2_HUMAN copine II 168 C2 2. central_nervous_system(1)|skin(1) 2 all_neural(199;0.224) GGCTGGACAAGAAGGTAAGGC 0.652 15 22 --- --- --- --- PASS HSF4 3299 broad.mit.edu 37 16 67201678 67201678 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:67201678G>A uc002erl.1 + 11 1875 c.910G>A c.(910-912)GAG>AAG p.E304K HSF4_uc002erm.1_Intron|HSF4_uc002ern.1_Intron|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.1_5'Flank NM_001040667 NP_001035757 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 isoform b 304 Interactions with DUSP26, MAPK1 and MAPK2. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGGGGATGGCGAGGCCGGGCT 0.647 11 9 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70928358 70928358 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:70928358G>T uc002ezr.2 - 55 9367 c.9239C>A c.(9238-9240)GCG>GAG p.A3080E NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3081 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TTACCTGAACGCGATCTCATA 0.522 13 27 --- --- --- --- PASS CMIP 80790 broad.mit.edu 37 16 81725390 81725390 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:81725390G>A uc002fgp.2 + 11 1471 c.1399G>A c.(1399-1401)GAT>AAT p.D467N CMIP_uc002fgq.1_Missense_Mutation_p.D373N|CMIP_uc010vnq.1_Missense_Mutation_p.D280N|CMIP_uc002fgr.1_Missense_Mutation_p.D314N|CMIP_uc010vnr.1_5'Flank NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip 433 cytoplasm|nucleus 0 GTCAGACTATGATGACTGGAG 0.527 8 15 --- --- --- --- PASS ANKRD11 29123 broad.mit.edu 37 16 89350994 89350994 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr16:89350994C>T uc002fmx.1 - 9 2417 c.1956G>A c.(1954-1956)CTG>CTA p.L652L ANKRD11_uc002fmy.1_Silent_p.L652L|ANKRD11_uc002fnc.1_Silent_p.L652L|ANKRD11_uc002fnb.1_Silent_p.L609L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 652 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTTCAACTTCAGCTCTTGGC 0.388 125 186 --- --- --- --- PASS RILP 83547 broad.mit.edu 37 17 1551211 1551211 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:1551211C>T uc002ftd.2 - 6 1156 c.862G>A c.(862-864)GAG>AAG p.E288K SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank NM_031430 NP_113618 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 288 Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology. endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TTCATGGCCTCGAGCAGAAGG 0.607 34 51 --- --- --- --- PASS HIC1 3090 broad.mit.edu 37 17 1961106 1961106 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:1961106C>T uc010cjy.2 + 2 1179 c.1179C>T c.(1177-1179)GGC>GGT p.G393G HIC1_uc002fty.3_Silent_p.G374G|HIC1_uc002ftz.3_Silent_p.G374G NM_001098202 NP_001091672 Q14526 HIC1_HUMAN hypermethylated in cancer 1 isoform 2 393 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1) 1 READ - Rectum adenocarcinoma(1115;0.236) GCGGCGACGGCGACGACTACA 0.587 5 5 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3213742 3213742 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:3213742C>T uc002fvi.2 + 1 204 c.138C>T c.(136-138)CTC>CTT p.L46L NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 GAGGCACCCTCAGCATCCTGG 0.542 50 70 --- --- --- --- PASS OR3A4 390756 broad.mit.edu 37 17 3214068 3214068 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:3214068C>T uc002fvi.2 + 1 530 c.464C>T c.(463-465)TCC>TTC p.S155F NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 TGTGTCTTTTCCTTCACCAAT 0.547 86 128 --- --- --- --- PASS TRPV3 162514 broad.mit.edu 37 17 3427651 3427651 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:3427651G>A uc002fvt.1 - 13 1906 c.1584C>T c.(1582-1584)ATC>ATT p.I528I TRPV3_uc002fvs.1_Intron|TRPV3_uc010vrh.1_Silent_p.I512I|TRPV3_uc010vri.1_Silent_p.I483I|TRPV3_uc010vrj.1_Silent_p.I512I|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Silent_p.I512I|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Silent_p.I528I|TRPV3_uc002fvu.2_Silent_p.I528I|TRPV3_uc010vrn.1_Intron NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 528 Helical; (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) GCACAGCTTGGATAAAACTGT 0.517 43 38 --- --- --- --- PASS GP1BA 2811 broad.mit.edu 37 17 4837744 4837744 + Silent SNP T C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:4837744T>C uc010vsq.1 + 3 1881 c.1806T>C c.(1804-1806)CCT>CCC p.P602P uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 615 0 GGGTACGGCCTAATGGCCGTG 0.622 OREG0024109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 130 --- --- --- --- PASS C1QBP 708 broad.mit.edu 37 17 5337084 5337084 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:5337084C>T uc002gby.1 - 4 559 c.481G>A c.(481-483)GAA>AAA p.E161K NM_001212 NP_001203 Q07021 C1QBP_HUMAN complement component 1, q subcomponent binding 161 blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms mitochondrial matrix|nucleus|plasma membrane ovary(1) 1 GATGTCAGTTCAGGCTGGGGA 0.458 76 114 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7700550 7700550 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:7700550C>T uc002giu.1 + 50 7934 c.7920C>T c.(7918-7920)ATC>ATT p.I2640I NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2640 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) AGTCCAGCATCACACGGCTCT 0.537 73 104 --- --- --- --- PASS FOXN1 8456 broad.mit.edu 37 17 26861381 26861381 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:26861381G>A uc010crm.2 + 7 1158 c.960G>A c.(958-960)CGG>CGA p.R320R FOXN1_uc002hbj.2_Silent_p.R320R NM_003593 NP_003584 O15353 FOXN1_HUMAN forkhead box N1 320 Fork-head. defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 Lung NSC(42;0.00431) ATTCTGTCCGGCACAACCTAT 0.582 4 124 --- --- --- --- PASS CHAD 1101 broad.mit.edu 37 17 48545632 48545632 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:48545632G>A uc010dbr.2 - 1 596 c.543C>T c.(541-543)AAC>AAT p.N181N ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.N181N|ACSF2_uc010dbt.1_5'Flank NM_001267 NP_001258 O15335 CHAD_HUMAN chondroadherin precursor 181 LRR 5. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent ovary(2)|central_nervous_system(1) 3 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) AGCTCAACGCGTTTTCCGACA 0.622 69 113 --- --- --- --- PASS TUBD1 51174 broad.mit.edu 37 17 57951925 57951925 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:57951925G>A uc002ixw.1 - 6 1187 c.909C>T c.(907-909)CTC>CTT p.L303L TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Silent_p.L268L|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Silent_p.L303L|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Silent_p.L87L|TUBD1_uc010ddi.1_Intron NM_016261 NP_057345 Q9UJT1 TBD_HUMAN delta-tubulin 303 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) CATTAGAAATGAGCATCTGTC 0.423 74 250 --- --- --- --- PASS SPHK1 8877 broad.mit.edu 37 17 74382930 74382930 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:74382930C>T uc002jrf.1 + 8 1227 c.418C>T c.(418-420)CTA>TTA p.L140L SPHK1_uc002jrg.1_Silent_p.L89L|SPHK1_uc002jrh.2_Silent_p.L154L|SPHK1_uc002jrj.2_Silent_p.L226L|SPHK1_uc002jri.2_Silent_p.L140L|SPHK1_uc002jrk.3_Silent_p.L140L|uc010wtd.1_RNA NM_001142602 NP_001136074 Q9NYA1 SPHK1_HUMAN sphingosine kinase 1 isoform 3 140 DAGKc. 'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity kidney(1) 1 CAACTGCACGCTATTGCTGTG 0.602 11 102 --- --- --- --- PASS BAHCC1 57597 broad.mit.edu 37 17 79425950 79425950 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr17:79425950G>A uc002kaf.2 + 18 5560 c.5560G>A c.(5560-5562)GAG>AAG p.E1854K BAHCC1_uc002kae.2_Missense_Mutation_p.E1084K NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 1854 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) ggaggaagaggaggaggaCAG 0.557 3 11 --- --- --- --- PASS MIB1 57534 broad.mit.edu 37 18 19379821 19379821 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr18:19379821G>A uc002ktq.2 + 9 1257 c.1257G>A c.(1255-1257)CTG>CTA p.L419L MIB1_uc002ktp.2_Silent_p.L58L NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 419 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CACAACTCCTGAAGAAATTAT 0.353 42 61 --- --- --- --- PASS ZNF396 252884 broad.mit.edu 37 18 32949403 32949403 + Nonsense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr18:32949403G>A uc010xcf.1 - 4 916 c.784C>T c.(784-786)CAG>TAG p.Q262* NM_145756 NP_665699 Q96N95 ZN396_HUMAN zinc finger protein 396 262 C2H2-type 1. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCTGAGCTCTGACTAAAGATT 0.408 64 93 --- --- --- --- PASS SKA1 220134 broad.mit.edu 37 18 47906588 47906588 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr18:47906588C>T uc002let.2 + 3 365 c.181C>T c.(181-183)CAG>TAG p.Q61* SKA1_uc002leu.2_Nonsense_Mutation_p.Q61*|SKA1_uc010xdl.1_Nonsense_Mutation_p.Q61* NM_145060 NP_659497 Q96BD8 SKA1_HUMAN spindle and KT associated 1 61 Potential. cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding 0 ATTGGAAATTCAGTATCAAGA 0.299 44 71 --- --- --- --- PASS MAPK4 5596 broad.mit.edu 37 18 48241563 48241563 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr18:48241563G>C uc002lev.2 + 3 1661 c.661G>C c.(661-663)GAG>CAG p.E221Q MAPK4_uc010xdm.1_Missense_Mutation_p.E10Q|MAPK4_uc010doz.2_Missense_Mutation_p.E221Q NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 221 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CATCCTGGCTGAGATGCTTAC 0.532 43 56 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74580737 74580737 + Nonsense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr18:74580737C>T uc002lmi.2 + 4 652 c.454C>T c.(454-456)CAG>TAG p.Q152* ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Nonsense_Mutation_p.Q152* NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 152 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TGGAACCCGGCAGCATGCCTG 0.527 66 110 --- --- --- --- PASS WDR18 57418 broad.mit.edu 37 19 994262 994262 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:994262G>A uc002lqm.1 + 10 1244 c.1218G>A c.(1216-1218)GAG>GAA p.E406E WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Silent_p.E369E|WDR18_uc010dry.1_Silent_p.E383E NM_024100 NP_077005 Q9BV38 WDR18_HUMAN WD repeat domain 18 406 skin(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGAGCTGGAGGACGAGGTGC 0.687 15 17 --- --- --- --- PASS FSD1 79187 broad.mit.edu 37 19 4318941 4318941 + Silent SNP A T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:4318941A>T uc002lzy.2 + 10 1185 c.1032A>T c.(1030-1032)ACA>ACT p.T344T FSD1_uc002lzz.2_Silent_p.T344T|FSD1_uc002maa.2_Silent_p.T157T NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 344 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) AGTCCTACACAGTTCTGGGTA 0.607 30 73 --- --- --- --- PASS SH2D3A 10045 broad.mit.edu 37 19 6752605 6752605 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:6752605C>T uc002mft.2 - 10 1924 c.1730G>A c.(1729-1731)TGA>TAA p.*577* SH2D3A_uc010xjg.1_Silent_p.*484* NM_005490 NP_005481 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 577 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(2) 2 TCTGCGCTCTCAGCGGTCAGG 0.667 5 4 --- --- --- --- PASS PNPLA6 10908 broad.mit.edu 37 19 7606545 7606545 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:7606545C>T uc010xjq.1 + 11 1365 c.1170C>T c.(1168-1170)ACC>ACT p.T390T PNPLA6_uc002mgq.1_Silent_p.T342T|PNPLA6_uc010xjp.1_Silent_p.T342T|PNPLA6_uc002mgr.1_Silent_p.T342T|PNPLA6_uc002mgs.2_Silent_p.T381T NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 381 Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 CCGATCCCACCGGGGCCCCGC 0.682 8 6 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9060544 9060544 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:9060544G>C uc002mkp.2 - 3 27106 c.26902C>G c.(26902-26904)CCA>GCA p.P8968A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8970 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGACCACTGGAGATGTCACT 0.463 99 135 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10600376 10600376 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:10600376C>G uc002moq.1 - 4 1635 c.1479G>C c.(1477-1479)GAG>GAC p.E493D KEAP1_uc002mop.1_Missense_Mutation_p.E211D|KEAP1_uc002mor.1_Missense_Mutation_p.E493D NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 493 Kelch 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACTCGTTCCTCTCTGGGTAGT 0.597 34 56 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602799 10602799 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:10602799C>T uc002moq.1 - 3 935 c.779G>A c.(778-780)CGA>CAA p.R260Q KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.R260Q NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 260 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R260*(1) lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GTAGAACCGTCGCTGTTCGCA 0.627 38 59 --- --- --- --- PASS AKAP8 10270 broad.mit.edu 37 19 15465863 15465863 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:15465863C>T uc002nav.2 - 14 2003 c.1942G>A c.(1942-1944)GAG>AAG p.E648K AKAP8_uc010dzy.2_Missense_Mutation_p.E197K NM_005858 NP_005849 O43823 AKAP8_HUMAN A-kinase anchor protein 8 648 signal transduction nuclear matrix ovary(1)|breast(1) 2 TTTCCAGCCTCTGCAGCCTCA 0.607 26 52 --- --- --- --- PASS FCHO1 23149 broad.mit.edu 37 19 17893894 17893894 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:17893894G>A uc010ebb.2 + 23 2195 c.2006G>A c.(2005-2007)GGG>GAG p.G669E FCHO1_uc002nhg.3_Missense_Mutation_p.G669E|FCHO1_uc002nhh.2_Missense_Mutation_p.G669E|FCHO1_uc010xpw.1_Missense_Mutation_p.G619E|FCHO1_uc002nhi.2_Missense_Mutation_p.G125E|FCHO1_uc002nhj.2_Missense_Mutation_p.G13E NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 669 breast(1) 1 GTGTTCAGCGGGACCCCACCA 0.597 10 62 --- --- --- --- PASS TSSK6 83983 broad.mit.edu 37 19 19625897 19625897 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:19625897C>T uc002nmr.2 - 1 573 c.340G>A c.(340-342)GAC>AAC p.D114N TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 114 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 GCAAAGAGGTCGCGCGCCTGA 0.657 38 75 --- --- --- --- PASS TSSK6 83983 broad.mit.edu 37 19 19626086 19626086 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:19626086C>T uc002nmr.2 - 1 384 c.151G>A c.(151-153)GAC>AAC p.D51N TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 51 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 TTGACGAAGTCCGGGGGCGCT 0.617 44 52 --- --- --- --- PASS LPAR2 9170 broad.mit.edu 37 19 19737830 19737830 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:19737830G>A uc002nnb.3 - 2 403 c.264C>T c.(262-264)CTC>CTT p.L88L LPAR2_uc002nna.3_Silent_p.L88L|LPAR2_uc002nnc.3_Silent_p.L88L NM_004720 NP_004711 Q9HBW0 LPAR2_HUMAN lysophosphatidic acid receptor 2 88 Helical; Name=2; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration cell surface|integral to plasma membrane LIM domain binding|lipid binding ovary(1)|breast(1) 2 TGTGGAACATGAGGAAGAGGT 0.647 15 23 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34843609 34843609 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:34843609C>T uc002nvd.3 + 14 3821 c.2962C>T c.(2962-2964)CCC>TCC p.P988S NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 988 ovary(1) 1 Esophageal squamous(110;0.162) TTCCCCGCTTCCCAGCACGCT 0.582 31 79 --- --- --- --- PASS GRAMD1A 57655 broad.mit.edu 37 19 35504575 35504575 + Missense_Mutation SNP A G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:35504575A>G uc010xse.1 + 9 987 c.850A>G c.(850-852)AGC>GGC p.S284G GRAMD1A_uc002nxi.1_Missense_Mutation_p.S371G|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S277G|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S50G|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S289G|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 284 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TTCCCGAGCCAGCAGCGACGC 0.652 7 64 --- --- --- --- PASS GRAMD1A 57655 broad.mit.edu 37 19 35504576 35504576 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:35504576G>T uc010xse.1 + 9 988 c.851G>T c.(850-852)AGC>ATC p.S284I GRAMD1A_uc002nxi.1_Missense_Mutation_p.S371I|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S277I|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S50I|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S289I|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 284 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) TCCCGAGCCAGCAGCGACGCA 0.652 7 64 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41066123 41066123 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:41066123C>T uc002ony.2 + 27 5815 c.5729C>T c.(5728-5730)GCC>GTC p.A1910V SPTBN4_uc002onx.2_Missense_Mutation_p.A1910V|SPTBN4_uc002onz.2_Missense_Mutation_p.A1910V|SPTBN4_uc010egx.2_Missense_Mutation_p.A653V|SPTBN4_uc002ooa.2_Missense_Mutation_p.A586V NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1910 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGTGAACATGCCGAGGCCATC 0.687 24 42 --- --- --- --- PASS GIPR 2696 broad.mit.edu 37 19 46181223 46181223 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:46181223G>A uc002pcu.1 + 11 1083 c.984G>A c.(982-984)CGG>CGA p.R328R GIPR_uc002pct.1_Silent_p.R328R|GIPR_uc010xxp.1_Silent_p.R292R|GIPR_uc010xxq.1_RNA NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 328 Cytoplasmic (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TGAGGACACGGCAAATGCGCT 0.592 4 159 --- --- --- --- PASS ZNF534 147658 broad.mit.edu 37 19 52941042 52941042 + Missense_Mutation SNP G T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:52941042G>T uc002pzk.2 + 4 429 c.368G>T c.(367-369)GGA>GTA p.G123V ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.G110V NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATCAACATGGATTAACTCTT 0.358 21 30 --- --- --- --- PASS LILRA1 11024 broad.mit.edu 37 19 55107247 55107247 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:55107247C>T uc002qgh.1 + 6 987 c.805C>T c.(805-807)CCT>TCT p.P269S LILRA2_uc010yfg.1_Missense_Mutation_p.P267S|LILRA1_uc010yfh.1_Missense_Mutation_p.P269S NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 269 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) CCTCCAGCTCCCTGGCCCACA 0.607 26 134 --- --- --- --- PASS DUXA 503835 broad.mit.edu 37 19 57672161 57672161 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:57672161C>A uc002qoa.1 - 2 75 c.30G>T c.(28-30)ATG>ATT p.M10I NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 10 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTGTTTTTACCATCTCTGTAG 0.368 18 117 --- --- --- --- PASS DUXA 503835 broad.mit.edu 37 19 57672162 57672162 + Missense_Mutation SNP A C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr19:57672162A>C uc002qoa.1 - 2 74 c.29T>G c.(28-30)ATG>AGG p.M10R NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN double homeobox A 10 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TGTTTTTACCATCTCTGTAGG 0.373 17 116 --- --- --- --- PASS CRNKL1 51340 broad.mit.edu 37 20 20018062 20018062 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr20:20018062C>G uc002wrs.2 - 14 2316 c.2284G>C c.(2284-2286)GAA>CAA p.E762Q NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 762 HAT 15. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 AATTCTTCTTCAAAACTTCGC 0.403 149 213 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33337252 33337252 + Nonsense_Mutation SNP T A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr20:33337252T>A uc002xav.2 - 10 5317 c.2746A>T c.(2746-2748)AAG>TAG p.K916* NCOA6_uc002xaw.2_Nonsense_Mutation_p.K916* NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 916 Gln-rich.|NCOA6IP-binding region.|Poly-Lys.|CREBBP-binding region.|TBP/GTF2A-binding region.|NCOA1-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 GGTTTCTTCTTCTTCGGTTTA 0.378 30 192 --- --- --- --- PASS NCOA6 23054 broad.mit.edu 37 20 33337253 33337253 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr20:33337253C>T uc002xav.2 - 10 5316 c.2745G>A c.(2743-2745)AAG>AAA p.K915K NCOA6_uc002xaw.2_Silent_p.K915K NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 915 Gln-rich.|NCOA6IP-binding region.|Poly-Lys.|CREBBP-binding region.|TBP/GTF2A-binding region.|NCOA1-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 GTTTCTTCTTCTTCGGTTTAT 0.378 31 189 --- --- --- --- PASS CSE1L 1434 broad.mit.edu 37 20 47711383 47711383 + Silent SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr20:47711383C>T uc002xty.2 + 24 2843 c.2709C>T c.(2707-2709)TTC>TTT p.F903F CSE1L_uc010zyg.1_Silent_p.F686F|CSE1L_uc010ghx.2_Silent_p.F847F|CSE1L_uc010ghy.2_Silent_p.F524F|CSE1L_uc010zyh.1_Silent_p.F552F NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 903 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) AGACTGCCTTCTCACAGTTGG 0.408 48 73 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17138410 17138410 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr21:17138410C>A uc002yjy.1 + 3 435 c.218C>A c.(217-219)GCA>GAA p.A73E USP25_uc011aby.1_Missense_Mutation_p.A73E|USP25_uc002yjz.1_Missense_Mutation_p.A73E|USP25_uc010gla.1_Missense_Mutation_p.A73E NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 73 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TACCAAACAGCACTTCCTGGC 0.383 6 84 --- --- --- --- PASS CHODL 140578 broad.mit.edu 37 21 19629100 19629100 + Silent SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr21:19629100C>A uc002ykv.2 + 2 745 c.354C>A c.(352-354)CTC>CTA p.L118L CHODL_uc002ykr.2_Silent_p.L77L|CHODL_uc002yks.2_Silent_p.L77L|CHODL_uc002ykt.2_Silent_p.L77L|CHODL_uc002yku.2_Silent_p.L77L NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 118 Extracellular (Potential).|C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) GCCCAGATCTCTACCAGTGGT 0.512 49 84 --- --- --- --- PASS DSCR4 10281 broad.mit.edu 37 21 39493330 39493330 + Missense_Mutation SNP G A A rs148504310 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr21:39493330G>A uc002ywp.2 - 1 125 c.20C>T c.(19-21)ACG>ATG p.T7M DSCR8_uc002ywt.3_5'Flank|DSCR8_uc010gnp.2_5'Flank|DSCR8_uc010gnq.2_5'Flank|DSCR8_uc010gnr.2_5'Flank|DSCR8_uc010gns.2_5'Flank NM_005867 NP_005858 P56555 DSCR4_HUMAN Down syndrome critical region protein 4 7 ovary(1) 1 atcatctctcgtcaagatgat 0.000 18 23 --- --- --- --- PASS SNRPD3 6634 broad.mit.edu 37 22 24953658 24953658 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:24953658C>T uc003aam.1 + 2 456 c.16C>T c.(16-18)CCG>TCG p.P6S C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Missense_Mutation_p.P6S NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 6 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 TATTGGTGTGCCGATTAAAGT 0.478 4 174 --- --- --- --- PASS MN1 4330 broad.mit.edu 37 22 28196346 28196346 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:28196346G>A uc003adj.2 - 1 1141 c.186C>T c.(184-186)GGC>GGT p.G62G NM_002430 NP_002421 Q10571 MN1_HUMAN meningioma 1 62 binding central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1) 10 CCATGTTCATGCCCAAGATCG 0.672 T ETV6 AML|meningioma 64 58 --- --- --- --- PASS C22orf31 25770 broad.mit.edu 37 22 29456416 29456416 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:29456416C>A uc003aej.1 - 2 546 c.419G>T c.(418-420)GGA>GTA p.G140V NM_015370 NP_056185 O95567 CV031_HUMAN hypothetical protein LOC25770 140 0 TCTGATGCCTCCTGCAGGCCT 0.522 44 212 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30416154 30416154 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:30416154G>A uc003agv.3 + 17 2834 c.2506G>A c.(2506-2508)GAG>AAG p.E836K MTMR3_uc003agu.3_Missense_Mutation_p.E836K|MTMR3_uc003agw.3_Missense_Mutation_p.E836K NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 836 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AGTCCCTTTTGAGACCAGAGG 0.478 62 75 --- --- --- --- PASS SYN3 8224 broad.mit.edu 37 22 32914270 32914270 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:32914270G>A uc003amx.2 - 12 1529 c.1370C>T c.(1369-1371)TCC>TTC p.S457F SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Missense_Mutation_p.S456F|SYN3_uc011amc.1_Missense_Mutation_p.S91F NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 457 J; Pro-rich linker. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 CCTCTGTTGGGAGGGGCTTCC 0.577 70 81 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38153942 38153942 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:38153942G>A uc003atr.2 + 16 6281 c.6010G>A c.(6010-6012)GAG>AAG p.E2004K TRIOBP_uc003atu.2_Missense_Mutation_p.E1832K|TRIOBP_uc003atv.2_Missense_Mutation_p.E291K|TRIOBP_uc003atw.2_Missense_Mutation_p.E291K|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 2004 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GCCTGCTGGTGAGGGGCCGCG 0.672 6 7 --- --- --- --- PASS SREBF2 6721 broad.mit.edu 37 22 42289166 42289166 + Missense_Mutation SNP A T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:42289166A>T uc003bbi.2 + 12 2423 c.2254A>T c.(2254-2256)AGT>TGT p.S752C WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA NM_004599 NP_004590 Q12772 SRBP2_HUMAN sterol regulatory element-binding transcription 752 Cytoplasmic (Potential). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding breast(2)|ovary(1)|central_nervous_system(1) 4 CCCCGAGCACAGTGCTGTTCC 0.607 6 143 --- --- --- --- PASS PKDREJ 10343 broad.mit.edu 37 22 46654628 46654628 + Missense_Mutation SNP G A A rs143126011 byFrequency TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:46654628G>A uc003bhh.2 - 1 4592 c.4592C>T c.(4591-4593)CCG>CTG p.P1531L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1531 Cytoplasmic (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GAGGGTCTCCGGGGTCTTGAT 0.488 5 446 --- --- --- --- PASS SBF1 6305 broad.mit.edu 37 22 50897936 50897936 + Silent SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr22:50897936G>A uc003blh.2 - 27 3846 c.3651C>T c.(3649-3651)GTC>GTT p.V1217V SBF1_uc011arx.1_Silent_p.V881V NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1217 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) AGAGGCCGACGACACCTTTGC 0.527 22 28 --- --- --- --- PASS AMELX 265 broad.mit.edu 37 X 11316382 11316382 + Missense_Mutation SNP G C C TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:11316382G>C uc004cut.2 + 4 197 c.129G>C c.(127-129)CAG>CAC p.Q43H ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.Q57H|AMELX_uc004cuu.2_Missense_Mutation_p.Q27H NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 43 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 AGTGGTACCAGAGCATAAGGC 0.348 159 26 --- --- --- --- PASS MAP7D2 256714 broad.mit.edu 37 X 20030525 20030525 + Missense_Mutation SNP C T T TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:20030525C>T uc004czr.1 - 14 1910 c.1891G>A c.(1891-1893)GAT>AAT p.D631N MAP7D2_uc004czq.1_Missense_Mutation_p.D516N|MAP7D2_uc011mji.1_Missense_Mutation_p.D579N|MAP7D2_uc010nfo.1_Missense_Mutation_p.D672N|MAP7D2_uc011mjj.1_Missense_Mutation_p.D586N NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 631 ovary(2)|breast(1) 3 GATTTCCCATCAAGGGCATCC 0.433 123 18 --- --- --- --- PASS SSX6 280657 broad.mit.edu 37 X 47978943 47978943 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:47978943C>A uc004dix.1 + 7 616 c.494C>A c.(493-495)ACC>AAC p.T165N NM_173357 NP_775493 SubName: Full=Putative uncharacterized protein SSX1; 0 CATGCCTGGACCCACAGACTG 0.498 185 38 --- --- --- --- PASS MAGT1 84061 broad.mit.edu 37 X 77112282 77112282 + Missense_Mutation SNP C G G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:77112282C>G uc004fof.2 - 5 778 c.716G>C c.(715-717)AGA>ACA p.R239T MAGT1_uc004fog.3_Intron NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 207 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CATATTACTTCTTCGAAGATA 0.353 74 16 --- --- --- --- PASS CXorf48 54967 broad.mit.edu 37 X 134303630 134303630 + Missense_Mutation SNP G A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:134303630G>A uc004eyk.1 - 2 823 c.167C>T c.(166-168)TCG>TTG p.S56L CXorf48_uc004eyl.1_Missense_Mutation_p.S56L NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN hypothetical protein LOC54967 isoform 1 56 0 Acute lymphoblastic leukemia(192;0.000127) GAAGTAGATCGACTCATCAAT 0.408 20 5 --- --- --- --- PASS MAGEA12 4111 broad.mit.edu 37 X 151900253 151900253 + Missense_Mutation SNP C A A TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chrX:151900253C>A uc010ntp.2 - 3 902 c.548G>T c.(547-549)GGC>GTC p.G183V MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.G183V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 183 MAGE. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GTAGGAGAGGCCCAGGCAGGT 0.572 12 248 --- --- --- --- PASS LRP8 7804 broad.mit.edu 37 1 53793512 53793514 + In_Frame_Del DEL GCA - - TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr1:53793512_53793514delGCA uc001cvi.1 - 1 213_215 c.71_73delTGC c.(70-75)CTGCAG>CAG p.L24del LRP8_uc001cvh.1_5'Flank|LRP8_uc001cvk.1_In_Frame_Del_p.L24del|LRP8_uc001cvj.1_In_Frame_Del_p.L24del|LRP8_uc001cvl.1_In_Frame_Del_p.L24del|uc001cvn.1_5'Flank NM_004631 NP_004622 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 24 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity 0 TGCTGGagctgcagcagcagcag 0.473 4 2 --- --- --- --- CAPG 822 broad.mit.edu 37 2 85626370 85626374 + Frame_Shift_Del DEL CAGGA - - TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr2:85626370_85626374delCAGGA uc002spl.1 - 6 801_805 c.551_555delTCCTG c.(550-555)ATCCTGfs p.I184fs CAPG_uc002spm.1_Frame_Shift_Del_p.I184fs|CAPG_uc010ysq.1_Frame_Shift_Del_p.I184fs|CAPG_uc010fgi.1_Frame_Shift_Del_p.I184fs|CAPG_uc010fgj.1_Frame_Shift_Del_p.I78fs NM_001747 NP_001738 P40121 CAPG_HUMAN gelsolin-like capping protein 184_185 Gelsolin-like 2. barbed-end actin filament capping|protein complex assembly F-actin capping protein complex|melanosome|nuclear membrane|nucleolus actin binding 0 TGTTGCGTTCCAGGATGTTGGACTT 0.605 29 16 --- --- --- --- TMEM121 80757 broad.mit.edu 37 14 105996050 105996052 + In_Frame_Del DEL GCC - - rs10569304 TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 973b8ed8-2295-4fb0-b857-f4433dfc785a f39ed42b-4da7-4412-b75d-37c859470931 g.chr14:105996050_105996052delGCC uc001yrp.1 + 2 1030_1032 c.879_881delGCC c.(877-882)GTGCCG>GTG p.P299del ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank NM_025268 NP_079544 Q9BTD3 TM121_HUMAN hole protein 299 Pro-rich. integral to membrane 0 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188) Epithelial(152;0.0959)|all cancers(159;0.235) GCAACTCGGTgccgccgccgccg 0.660 4 2 --- --- --- ---