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 B3GALT6 126792 broad.mit.edu 37 1 1168120 1168120 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:1168120G>A uc001adk.2 + 1 492 c.462G>A c.(460-462)AAG>AAA p.K154K SDF4_uc001adh.3_5'Flank|SDF4_uc001adi.3_5'Flank|SDF4_uc009vjv.2_5'Flank|SDF4_uc009vjw.2_5'Flank NM_080605 NP_542172 Q96L58 B3GT6_HUMAN beta-1,3-galactosyltransferase 6 154 Lumenal (Potential). glycosaminoglycan biosynthetic process|protein glycosylation Golgi cisterna membrane|Golgi medial cisterna|integral to membrane galactosylxylosylprotein 3-beta-galactosyltransferase 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TCGTGCTCAAGGCGGACGACG 0.567 12 15 --- --- --- --- PASS C1orf187 374946 broad.mit.edu 37 1 11766366 11766366 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:11766366G>T uc001asr.1 + 2 191 c.51G>T c.(49-51)CTG>CTT p.L17L NM_198545 NP_940947 Q8NBI3 DRAXI_HUMAN chromosome 1 open reading frame 187 precursor 17 axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular region 0 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651) TCGTCCTCCTGCTGCCCCTGG 0.657 9 12 --- --- --- --- PASS LUZP1 7798 broad.mit.edu 37 1 23419271 23419271 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:23419271C>A uc001bgk.2 - 4 1868 c.1484G>T c.(1483-1485)GGC>GTC p.G495V LUZP1_uc010odv.1_Missense_Mutation_p.G495V|LUZP1_uc001bgl.2_Missense_Mutation_p.G495V|LUZP1_uc001bgm.1_Missense_Mutation_p.G495V NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 495 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GCTCTCGGTGCCTGGCTTGGA 0.572 35 255 --- --- --- --- PASS CLSPN 63967 broad.mit.edu 37 1 36205073 36205073 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:36205073G>A uc001bzi.2 - 19 3281 c.3201C>T c.(3199-3201)AGC>AGT p.S1067S CLSPN_uc009vux.2_Silent_p.S1003S NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN claspin 1067 activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTCATCTTCGCTTCCCACAT 0.398 14 215 --- --- --- --- PASS GPBP1L1 60313 broad.mit.edu 37 1 46106068 46106068 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:46106068C>A uc001coq.2 - 8 1919 c.558G>T c.(556-558)CCG>CCT p.P186P NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) TGGCACTAGGCGGGTTTTCTG 0.443 4 271 --- --- --- --- PASS TTC39A 22996 broad.mit.edu 37 1 51771650 51771650 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:51771650A>T uc001csl.2 - 7 800 c.695T>A c.(694-696)CTG>CAG p.L232Q TTC39A_uc001csk.2_Missense_Mutation_p.L197Q|TTC39A_uc010ond.1_Missense_Mutation_p.L169Q|TTC39A_uc010one.1_Missense_Mutation_p.L196Q|TTC39A_uc010onf.1_Missense_Mutation_p.L200Q|TTC39A_uc001csn.2_Missense_Mutation_p.L231Q|TTC39A_uc001cso.1_Missense_Mutation_p.L228Q|TTC39A_uc009vyy.1_Missense_Mutation_p.L169Q NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 232 binding skin(1) 1 AGCACTCACCAGGTTGAAGGC 0.567 10 73 --- --- --- --- PASS KTI12 112970 broad.mit.edu 37 1 52498725 52498725 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:52498725C>A uc001ctj.1 - 1 748 c.709G>T c.(709-711)GAG>TAG p.E237* TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 237 ATP binding central_nervous_system(2) 2 GGCAACGGCTCCTCTAGGCCC 0.637 35 82 --- --- --- --- PASS FAM159A 348378 broad.mit.edu 37 1 53108627 53108627 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:53108627C>A uc001cuf.2 + 2 375 c.275C>A c.(274-276)TCT>TAT p.S92Y FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 92 integral to membrane 0 TTCATCAGCTCTAAGCCCCAC 0.522 4 206 --- --- --- --- PASS YIPF1 54432 broad.mit.edu 37 1 54344035 54344035 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:54344035C>A uc001cvu.2 - 6 654 c.317G>T c.(316-318)GGG>GTG p.G106V YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 106 Cytoplasmic (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 AAAGTTTTTCCCGGGTATTGG 0.348 69 196 --- --- --- --- PASS YIPF1 54432 broad.mit.edu 37 1 54344036 54344036 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:54344036C>T uc001cvu.2 - 6 653 c.316G>A c.(316-318)GGG>AGG p.G106R YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 106 Cytoplasmic (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 AAGTTTTTCCCGGGTATTGGC 0.348 67 193 --- --- --- --- PASS BSND 7809 broad.mit.edu 37 1 55470715 55470715 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:55470715C>T uc001cye.2 + 2 441 c.198C>T c.(196-198)GAC>GAT p.D66D NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 66 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 TCCCTGCTGACTCTGACTTTC 0.592 4 115 --- --- --- --- PASS BSND 7809 broad.mit.edu 37 1 55473948 55473948 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:55473948G>C uc001cye.2 + 4 853 c.610G>C c.(610-612)GAC>CAC p.D204H NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 204 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 CCTGGACATGGACTCCAGTGA 0.567 6 53 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57420497 57420497 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:57420497C>A uc001cyp.2 - 4 462 c.395G>T c.(394-396)AGG>ATG p.R132M C8B_uc010oon.1_Missense_Mutation_p.R70M|C8B_uc010ooo.1_Missense_Mutation_p.R80M NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 132 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 GTTTACACACCTTCCTAGAAT 0.428 7 100 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66102465 66102465 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:66102465G>T uc001dci.2 + 20 3467 c.3265G>T c.(3265-3267)GAG>TAG p.E1089* LEPR_uc009waq.2_3'UTR NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 1089 Cytoplasmic (Potential). energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CAAAAAGAGAGAGAGTGGTGT 0.418 37 88 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74665362 74665362 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:74665362C>G uc001dge.1 + 2 113 c.97C>G c.(97-99)CGT>GGT p.R33G LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.R33G|TNNI3K_uc001dgd.2_Missense_Mutation_p.R33G|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.R33G|FPGT_uc001dgb.1_Missense_Mutation_p.R33G|FPGT_uc010oqv.1_Missense_Mutation_p.R33G NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform a Error:Variant_position_missing_in_Q59H18_after_alignment cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 ACTTGTAGCACGTGGAGAATT 0.373 10 97 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112999369 112999369 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:112999369G>A uc001ebx.2 + 6 1483 c.1255G>A c.(1255-1257)GCC>ACC p.A419T CTTNBP2NL_uc001ebz.2_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 419 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAGCACTGCCTCCTCCTC 0.567 139 263 --- --- --- --- PASS HIST2H2BF 440689 broad.mit.edu 37 1 149783693 149783693 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:149783693G>T uc001esr.2 - 1 236 c.186C>A c.(184-186)ATC>ATA p.I62I HIST2H2BF_uc010pbj.1_Silent_p.I62I|HIST2H2BF_uc010pbk.1_Silent_p.I62I NM_001024599 NP_001019770 Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf isoform a 62 nucleosome assembly nucleosome|nucleus DNA binding 0 Breast(34;0.0124)|all_hematologic(923;0.127) AGGAGTTCATGATGCCCATGG 0.612 4 321 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152188497 152188497 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:152188497C>G uc001ezt.1 - 3 5684 c.5608G>C c.(5608-5610)GGA>CGA p.G1870R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1870 20. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACCAAATCCAGAAGACTGA 0.577 15 802 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155736467 155736467 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:155736467G>T uc001flz.2 - 21 2894 c.2797C>A c.(2797-2799)CAC>AAC p.H933N GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.H933N|GON4L_uc009wrh.1_Missense_Mutation_p.H933N|GON4L_uc001fma.1_Missense_Mutation_p.H933N|GON4L_uc001fmb.3_Missense_Mutation_p.H129N|GON4L_uc001fmc.2_Missense_Mutation_p.H933N|GON4L_uc001fmd.3_Missense_Mutation_p.H933N|GON4L_uc009wri.2_Missense_Mutation_p.H519N NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 933 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TCAGCCATGTGCCGCAGTTCT 0.428 4 161 --- --- --- --- PASS ATP1A4 480 broad.mit.edu 37 1 160143418 160143418 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:160143418C>A uc001fve.3 + 13 2381 c.1902C>A c.(1900-1902)GCC>GCA p.A634A ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Silent_p.A137A NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 634 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AGGCCATTGCCAAGGGTGTGG 0.542 79 223 --- --- --- --- PASS FCGR2A 2212 broad.mit.edu 37 1 161487886 161487886 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:161487886A>T uc001gan.2 + 7 955 c.902A>T c.(901-903)AAA>ATA p.K301I FCGR2A_uc001gam.2_Missense_Mutation_p.K300I|FCGR2A_uc001gao.2_RNA NM_001136219 NP_001129691 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor 301 Cytoplasmic (Potential). integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GACGATGATAAAAACATCTAC 0.398 64 586 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092665 175092665 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:175092665G>T uc001gkl.1 + 12 2893 c.2780G>T c.(2779-2781)AGG>ATG p.R927M NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 927 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGAGAGACCAGGGAGGTTCCG 0.622 60 85 --- --- --- --- PASS DHX9 1660 broad.mit.edu 37 1 182823280 182823280 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:182823280A>G uc001gpr.2 + 6 756 c.593A>G c.(592-594)TAT>TGT p.Y198C DHX9_uc001gps.2_Translation_Start_Site NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 198 DRBM 2.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 CAAGGAGAATATAAGTACACC 0.378 92 125 --- --- --- --- PASS GNPAT 8443 broad.mit.edu 37 1 231403566 231403566 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:231403566C>T uc001hup.3 + 9 1402 c.1196C>T c.(1195-1197)TCC>TTC p.S399F GNPAT_uc009xfp.2_Missense_Mutation_p.S338F NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 399 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AACCGGCCATCCATGGACTTT 0.458 84 74 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234614038 234614038 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:234614038G>T uc001hwd.2 - 1 812 c.812C>A c.(811-813)GCG>GAG p.A271E NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 271 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) GCCCAGCCCCGCCTGCACCGT 0.527 2 2 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240256727 240256727 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr1:240256727A>T uc010pyd.1 + 1 1543 c.1318A>T c.(1318-1320)AGC>TGC p.S440C FMN2_uc010pye.1_Missense_Mutation_p.S440C NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 440 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTAATCAGAGCCCCAGGAT 0.662 42 64 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1812859 1812859 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:1812859C>T uc002qxe.2 - 22 3988 c.3161G>A c.(3160-3162)CGG>CAG p.R1054Q MYT1L_uc002qxd.2_Missense_Mutation_p.R1052Q|MYT1L_uc010ewk.2_Missense_Mutation_p.R50Q NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1054 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GTTGCTGGCCCGCTGTTTGAT 0.597 10 129 --- --- --- --- PASS C2orf39 92749 broad.mit.edu 37 2 26624930 26624930 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:26624930C>T uc002rhg.2 + 1 147 c.73C>T c.(73-75)CCC>TCC p.P25S C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 25 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATTCTCGCGCCCTCGGTCCA 0.632 13 28 --- --- --- --- PASS SPAST 6683 broad.mit.edu 37 2 32361636 32361636 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:32361636G>C uc002roc.2 + 10 1471 c.1250G>C c.(1249-1251)GGA>GCA p.G417A SPAST_uc002rod.2_Missense_Mutation_p.G385A NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 417 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTTTAGGTGGGAGAAGGAGAG 0.308 69 149 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40387975 40387975 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:40387975T>C uc002rrx.2 - 8 2223 c.2199A>G c.(2197-2199)ACA>ACG p.T733T uc002rrw.2_Intron|SLC8A1_uc002rry.2_Silent_p.T728T|SLC8A1_uc002rrz.2_Silent_p.T720T|SLC8A1_uc002rsa.2_Silent_p.T697T|SLC8A1_uc002rsd.3_Silent_p.T697T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 733 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGGCCAGGTTTGTCTTCTTAA 0.413 64 98 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656127 40656127 + Nonsense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:40656127T>A uc002rrx.2 - 1 1318 c.1294A>T c.(1294-1296)AGA>TGA p.R432* SLC8A1_uc002rry.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsb.1_Nonsense_Mutation_p.R432*|SLC8A1_uc010fan.1_Nonsense_Mutation_p.R432*|SLC8A1_uc002rsc.1_Nonsense_Mutation_p.R432* NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 432 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCACCACCTCTGCGGATAATG 0.433 65 112 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43926841 43926841 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:43926841C>T uc010yny.1 + 8 827 c.744C>T c.(742-744)GGC>GGT p.G248G PLEKHH2_uc002rte.3_Silent_p.G248G|PLEKHH2_uc002rtf.3_Silent_p.G247G NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 248 cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACAACAGAGGCCAGAGAACAT 0.418 26 147 --- --- --- --- PASS FBXO11 80204 broad.mit.edu 37 2 48059965 48059965 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:48059965T>A uc010fbl.2 - 9 958 c.844A>T c.(844-846)ATT>TTT p.I282F FBXO11_uc002rwe.2_Missense_Mutation_p.I282F|FBXO11_uc002rwf.2_Missense_Mutation_p.I282F|FBXO11_uc002rwg.1_Missense_Mutation_p.I282F|FBXO11_uc010fbk.2_5'Flank NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 366 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTACTGTAATCTCTAAGCAG 0.313 43 288 --- --- --- --- PASS FANCL 55120 broad.mit.edu 37 2 58425768 58425768 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:58425768C>A uc002rzw.3 - 7 568 c.501G>T c.(499-501)GTG>GTT p.V167V FANCL_uc002rzx.3_Silent_p.V167V|FANCL_uc010fce.2_Silent_p.V167V|FANCL_uc010fcf.1_Silent_p.V108V NM_018062 NP_060532 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L isoform 167 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CAGGAAAATCCACAAAATAAT 0.299 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 33 56 --- --- --- --- PASS CEP68 23177 broad.mit.edu 37 2 65298860 65298860 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:65298860C>A uc002sdl.3 + 3 844 c.630C>A c.(628-630)CAC>CAA p.H210Q CEP68_uc002sdj.2_Missense_Mutation_p.H210Q|CEP68_uc010yqb.1_Missense_Mutation_p.H210Q|CEP68_uc002sdk.3_Missense_Mutation_p.H210Q|CEP68_uc010yqc.1_Missense_Mutation_p.H210Q|CEP68_uc010yqd.1_Missense_Mutation_p.H210Q NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 210 centrosome organization centrosome skin(1) 1 TCCAGGGTCACCAGGAGAGGG 0.647 3 104 --- --- --- --- PASS FAM136A 84908 broad.mit.edu 37 2 70528037 70528037 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:70528037C>A uc002sgq.3 - 2 240 c.163G>T c.(163-165)GAG>TAG p.E55* FAM136A_uc010fdp.2_RNA NM_032822 NP_116211 Q96C01 F136A_HUMAN hypothetical protein LOC84908 55 mitochondrion protein binding 0 TGGCAGCGCTCGATGCACTGG 0.572 5 319 --- --- --- --- PASS CCT7 10574 broad.mit.edu 37 2 73477477 73477477 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:73477477T>C uc002siz.2 + 10 1216 c.1114T>C c.(1114-1116)TTC>CTC p.F372L CCT7_uc002sja.2_Missense_Mutation_p.F168L|CCT7_uc010yrf.1_Missense_Mutation_p.F328L|CCT7_uc010feu.2_Missense_Mutation_p.F330L|CCT7_uc010yrg.1_Missense_Mutation_p.F272L|CCT7_uc010yrh.1_Missense_Mutation_p.F244L|CCT7_uc010yri.1_Missense_Mutation_p.F285L NM_006429 NP_006420 Q99832 TCPH_HUMAN chaperonin containing TCP1, subunit 7 isoform a 372 'de novo' posttranslational protein folding ATP binding|unfolded protein binding 0 GACATGCACCTTCATTCTCCG 0.527 98 156 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90139137 90139137 + RNA SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:90139137G>C uc010fhm.2 + 17 c.2049G>C Parts of antibodies, mostly variable regions. AGCTCCTGGGGCTCCTGCTGC 0.517 9 417 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141643896 141643896 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:141643896C>T uc002tvj.1 - 24 4747 c.3775G>A c.(3775-3777)GAA>AAA p.E1259K LRP1B_uc010fnl.1_Missense_Mutation_p.E441K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1259 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGAATGCTTCAAAAGGATCT 0.284 TSP Lung(27;0.18) 23 67 --- --- --- --- PASS KIF5C 3800 broad.mit.edu 37 2 149850999 149850999 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:149850999T>A uc010zbu.1 + 17 2338 c.1970T>A c.(1969-1971)CTA>CAA p.L657Q KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.L209Q NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 657 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) AGGAGGCAGCTAGAAGAGTCC 0.493 4 4 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152520196 152520196 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:152520196T>A uc010fnx.2 - 45 5820 c.5629A>T c.(5629-5631)AGT>TGT p.S1877C NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1877 Nebulin 49. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCCACCACACTGAGCATGTCC 0.517 4 56 --- --- --- --- PASS PARD3B 117583 broad.mit.edu 37 2 206050578 206050578 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:206050578A>T uc002var.1 + 14 2222 c.2015A>T c.(2014-2016)TAC>TTC p.Y672F PARD3B_uc010fub.1_Missense_Mutation_p.Y672F|PARD3B_uc002vao.1_Missense_Mutation_p.Y672F|PARD3B_uc002vap.1_Missense_Mutation_p.Y610F|PARD3B_uc002vaq.1_Missense_Mutation_p.Y672F NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 672 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTCGAAGATTACAGCCACAGG 0.423 62 78 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216269278 216269278 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:216269278C>T uc002vfa.2 - 20 3353 c.3087G>A c.(3085-3087)CTG>CTA p.L1029L FN1_uc002vfb.2_Silent_p.L1029L|FN1_uc002vfc.2_Silent_p.L1029L|FN1_uc002vfd.2_Silent_p.L1029L|FN1_uc002vfe.2_Silent_p.L1029L|FN1_uc002vff.2_Silent_p.L1029L|FN1_uc002vfg.2_Silent_p.L1029L|FN1_uc002vfh.2_Silent_p.L1029L|FN1_uc002vfi.2_Silent_p.L1029L|FN1_uc002vfj.2_Silent_p.L1029L NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1029 |Fibronectin type-III 5. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCACGGTCAGTCGGTATC 0.537 35 147 --- --- --- --- PASS SLC11A1 6556 broad.mit.edu 37 2 219254677 219254677 + Missense_Mutation SNP G A A rs140981969 byFrequency TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr2:219254677G>A uc002vhv.2 + 9 1220 c.880G>A c.(880-882)GTC>ATC p.V294I SLC11A1_uc010fvp.1_Missense_Mutation_p.V294I|SLC11A1_uc010fvq.1_Missense_Mutation_p.V227I|SLC11A1_uc010zkc.1_Missense_Mutation_p.V227I|SLC11A1_uc002vhu.1_Missense_Mutation_p.V89I|SLC11A1_uc002vhw.2_Missense_Mutation_p.V176I|SLC11A1_uc010fvr.2_Missense_Mutation_p.V89I NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 294 Helical; (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGCCCTGTCCGTCTCCTTTAT 0.547 23 40 --- --- --- --- PASS IL5RA 3568 broad.mit.edu 37 3 3143397 3143397 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:3143397C>A uc011ask.1 - 6 990 c.346G>T c.(346-348)GCT>TCT p.A116S IL5RA_uc010hbq.2_Missense_Mutation_p.A116S|IL5RA_uc010hbr.2_Missense_Mutation_p.A116S|IL5RA_uc010hbs.2_Missense_Mutation_p.A116S|IL5RA_uc011asl.1_Missense_Mutation_p.A116S|IL5RA_uc011asm.1_Missense_Mutation_p.A116S|IL5RA_uc010hbt.2_Missense_Mutation_p.A116S|IL5RA_uc011asn.1_Missense_Mutation_p.A116S|IL5RA_uc010hbu.2_Missense_Mutation_p.A116S NM_000564 NP_000555 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha isoform 1 116 Extracellular (Potential). cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity ovary(1) 1 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TGAAGTTCAGCAGAAGCCCAG 0.463 21 87 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7721755 7721755 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:7721755C>T uc003bqm.2 + 9 2745 c.2471C>T c.(2470-2472)ACG>ATG p.T824M GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.T824M|GRM7_uc003bql.2_Missense_Mutation_p.T824M|GRM7_uc003bqn.1_Missense_Mutation_p.T407M NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 824 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CAAACTACCACGCTTACAATC 0.438 26 56 --- --- --- --- PASS CAMK1 8536 broad.mit.edu 37 3 9803340 9803340 + Silent SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:9803340G>C uc003bst.2 - 6 709 c.531C>G c.(529-531)ACC>ACG p.T177T OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 177 Protein kinase. T->A: Loss of activation by CaMKK1.|T->D: Partial activation in absence of CaMKK1. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) TTCCACAGGCGGTGGAGAGCA 0.587 28 69 --- --- --- --- PASS STAC 6769 broad.mit.edu 37 3 36485038 36485038 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:36485038G>T uc003cgh.1 + 2 333 c.294G>T c.(292-294)AGG>AGT p.R98S STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R98S NM_003149 NP_003140 Q99469 STAC_HUMAN SH3 and cysteine rich domain 98 intracellular signal transduction cytoplasm|soluble fraction metal ion binding skin(2)|ovary(1)|pancreas(1) 4 CACCCGCCAGGGCTGGTCTGC 0.557 89 122 --- --- --- --- PASS DCLK3 85443 broad.mit.edu 37 3 36763059 36763059 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:36763059C>G uc003cgi.2 - 3 2035 c.1544G>C c.(1543-1545)GGG>GCG p.G515A NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 515 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 AGTTGGGGTCCCACACACAGT 0.408 64 227 --- --- --- --- PASS ZNF445 353274 broad.mit.edu 37 3 44488820 44488820 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:44488820C>A uc003cnf.2 - 8 2691 c.2343G>T c.(2341-2343)CAG>CAT p.Q781H ZNF445_uc011azv.1_Missense_Mutation_p.Q769H|ZNF445_uc011azw.1_Missense_Mutation_p.Q781H NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 781 C2H2-type 8. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGTGAACTCTCTGATGGATGA 0.507 3 54 --- --- --- --- PASS SEMA3F 6405 broad.mit.edu 37 3 50197101 50197101 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:50197101G>T uc003cyj.2 + 2 244 c.46G>T c.(46-48)GCC>TCC p.A16S SEMA3F_uc003cyk.2_Missense_Mutation_p.A16S NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 16 axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) ACTGACCGGGGCCTGGCCATC 0.602 27 49 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52621527 52621527 + Splice_Site SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:52621527C>T uc003des.2 - 19 2978 c.2966_splice c.e19-1 p.G989_splice PBRM1_uc003dex.2_Splice_Site|PBRM1_uc003deq.2_Splice_Site_p.G989_splice|PBRM1_uc003der.2_Splice_Site_p.G957_splice|PBRM1_uc003det.2_Splice_Site_p.G1004_splice|PBRM1_uc003deu.2_Splice_Site_p.G1004_splice|PBRM1_uc003dev.2_Splice_Site|PBRM1_uc003dew.2_Splice_Site_p.G989_splice|PBRM1_uc010hmk.1_Intron|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Splice_Site_p.G988_splice|PBRM1_uc003dfb.1_Splice_Site_p.G901_splice|PBRM1_uc003dfa.1_Splice_Site_p.G335_splice NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATTTTTCACCTCAAAAATGG 0.313 Mis|N|F|S|D|O clear cell renal carcinoma|breast 54 48 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52685796 52685796 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:52685796C>G uc003des.2 - 6 688 c.676G>C c.(676-678)GAG>CAG p.E226Q PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.E226Q|PBRM1_uc003der.2_Missense_Mutation_p.E226Q|PBRM1_uc003det.2_Missense_Mutation_p.E226Q|PBRM1_uc003deu.2_Missense_Mutation_p.E226Q|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.E226Q|PBRM1_uc010hmk.1_Missense_Mutation_p.E226Q|PBRM1_uc003dey.2_Missense_Mutation_p.E226Q|PBRM1_uc003dez.1_Missense_Mutation_p.E226Q|PBRM1_uc003dfb.1_Missense_Mutation_p.E124Q NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 226 Bromo 2. E -> G (found in hematopoietic and lymphoid cancer cell lines). chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCTATAGGCTCCTTAATTATT 0.368 Mis|N|F|S|D|O clear cell renal carcinoma|breast 96 103 --- --- --- --- PASS ITIH1 3697 broad.mit.edu 37 3 52822040 52822040 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:52822040T>A uc003dfs.2 + 17 1987 c.1963T>A c.(1963-1965)TCC>ACC p.S655T ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Missense_Mutation_p.S256T|ITIH1_uc010hmo.1_Missense_Mutation_p.S209T|ITIH1_uc003dfu.2_Missense_Mutation_p.S21T NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 655 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TCCTACTCATTCCAGCTCCAA 0.617 48 212 --- --- --- --- PASS FAM19A1 407738 broad.mit.edu 37 3 68466452 68466452 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:68466452A>G uc003dnd.2 + 3 357 c.141A>G c.(139-141)ATA>ATG p.I47M FAM19A1_uc003dne.2_Missense_Mutation_p.I47M|FAM19A1_uc003dng.2_Missense_Mutation_p.I47M NM_213609 NP_998774 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine 47 endoplasmic reticulum|extracellular region ovary(1) 1 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GTGAAGTGATAGCAGCACACC 0.478 18 47 --- --- --- --- PASS GPR27 2850 broad.mit.edu 37 3 71804003 71804003 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:71804003G>T uc011bge.1 + 1 803 c.803G>T c.(802-804)CGC>CTC p.R268L EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 268 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) cgcggcgcgcgccgccTCCTC 0.557 9 13 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97194270 97194270 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:97194270G>A uc010how.1 + 8 2012 c.1969G>A c.(1969-1971)GTC>ATC p.V657I EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Missense_Mutation_p.V23I|EPHA6_uc003drs.3_Missense_Mutation_p.V49I|EPHA6_uc003drr.3_Missense_Mutation_p.V49I|EPHA6_uc003drt.2_Missense_Mutation_p.V49I|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 562 Helical; (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 CACTCTCCTCGTCATCCTCAC 0.403 4 31 --- --- --- --- PASS CEP97 79598 broad.mit.edu 37 3 101481404 101481404 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:101481404G>T uc003dvk.1 + 10 1920 c.1893G>T c.(1891-1893)CAG>CAT p.Q631H CEP97_uc011bhf.1_Missense_Mutation_p.Q572H|CEP97_uc003dvl.1_Missense_Mutation_p.Q327H|CEP97_uc003dvm.1_Missense_Mutation_p.Q469H NM_024548 NP_078824 Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 631 CEP110 binding. centrosome|nucleus protein binding ovary(2) 2 TTTGGAACCAGGTAAACTCCC 0.313 51 123 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114058223 114058223 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:114058223C>G uc003ebi.2 - 5 2035 c.1855G>C c.(1855-1857)GAT>CAT p.D619H ZBTB20_uc003ebj.2_Missense_Mutation_p.D546H|ZBTB20_uc010hqp.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebk.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebl.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebm.2_Missense_Mutation_p.D546H|ZBTB20_uc003ebn.2_Missense_Mutation_p.D546H NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 619 C2H2-type 2. 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) ATAAGGTAATCCTTTAAGGAG 0.512 29 132 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121208879 121208879 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:121208879T>C uc003eee.3 - 16 3028 c.2899A>G c.(2899-2901)AGT>GGT p.S967G POLQ_uc003eed.2_Missense_Mutation_p.S139G NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 967 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TTAAAGGAACTTGTATGCTCT 0.299 DNA_polymerases_(catalytic_subunits) 21 86 --- --- --- --- PASS COPG 22820 broad.mit.edu 37 3 128987831 128987831 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:128987831G>T uc003els.2 + 18 1931 c.1831G>T c.(1831-1833)GAG>TAG p.E611* COPG_uc010htb.2_Nonsense_Mutation_p.E517* NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 611 Interaction with ZNF289/ARFGAP2. COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 TACCAGGCAGGAGATCTTCCA 0.468 44 128 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129284817 129284817 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:129284817A>G uc003emx.2 - 24 4335 c.4235T>C c.(4234-4236)TTG>TCG p.L1412S PLXND1_uc011blb.1_Missense_Mutation_p.L80S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1412 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGAGGAGAACAAGCTAATTCC 0.562 9 48 --- --- --- --- PASS NPHP3 27031 broad.mit.edu 37 3 132440894 132440894 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:132440894G>A uc003epe.1 - 1 383 c.306C>T c.(304-306)CGC>CGT p.R102R NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 102 Potential. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 TCTTGCTGACGCGAAAGATCT 0.647 12 85 --- --- --- --- PASS C3orf58 205428 broad.mit.edu 37 3 143691417 143691417 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:143691417C>A uc003evo.2 + 1 778 c.243C>A c.(241-243)CGC>CGA p.R81R C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 81 COPI vesicle coat|extracellular region ovary(1) 1 GCCGCTTGCGCCTGCTGGACT 0.682 27 70 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 174815049 174815049 + Silent SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:174815049A>C uc003fit.2 + 2 600 c.513A>C c.(511-513)ACA>ACC p.T171T NAALADL2_uc003fiu.1_Silent_p.T164T NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 171 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TTCTCAAGACAATCCAGGCAG 0.378 8 315 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179529588 179529588 + Splice_Site SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:179529588C>T uc003fki.1 - 11 1284 c.1154_splice c.e11+1 p.R385_splice PEX5L_uc011bqd.1_Splice_Site_p.R342_splice|PEX5L_uc011bqe.1_Splice_Site_p.R193_splice|PEX5L_uc011bqf.1_Splice_Site_p.R277_splice|PEX5L_uc003fkj.1_Splice_Site_p.R350_splice|PEX5L_uc010hxd.1_Splice_Site_p.R383_splice|PEX5L_uc011bqg.1_Splice_Site_p.R361_splice|PEX5L_uc011bqh.1_Splice_Site_p.R326_splice NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCTTCCTTTACCTCTGGAGGG 0.428 127 148 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182775130 182775130 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:182775130C>A uc003fle.2 - 8 979 c.842G>T c.(841-843)CGA>CTA p.R281L MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R164L|MCCC1_uc003flg.2_Missense_Mutation_p.R172L|MCCC1_uc011bqp.1_Missense_Mutation_p.R234L|MCCC1_uc011bqq.1_Missense_Mutation_p.R172L NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 281 Biotin carboxylation.|ATP-grasp. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTTCTGATGTCGCCTCTGCAC 0.428 31 35 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182775210 182775210 + Missense_Mutation SNP C A A rs149389595 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:182775210C>A uc003fle.2 - 8 899 c.762G>T c.(760-762)AGG>AGT p.R254S MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.R137S|MCCC1_uc003flg.2_Missense_Mutation_p.R145S|MCCC1_uc011bqp.1_Missense_Mutation_p.R207S|MCCC1_uc011bqq.1_Missense_Mutation_p.R145S NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 254 Biotin carboxylation.|ATP-grasp. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTTCTACATGCCTATATAAAA 0.393 11 41 --- --- --- --- PASS MCCC1 56922 broad.mit.edu 37 3 182775211 182775211 + Splice_Site SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:182775211C>A uc003fle.2 - 8 899 c.762_splice c.e8-1 p.R254_splice MCCC1_uc010hxi.2_Splice_Site|MCCC1_uc011bqo.1_Splice_Site|MCCC1_uc003flf.2_Splice_Site_p.R137_splice|MCCC1_uc003flg.2_Splice_Site_p.R145_splice|MCCC1_uc011bqp.1_Splice_Site_p.R207_splice|MCCC1_uc011bqq.1_Splice_Site_p.R145_splice NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) TTCTACATGCCTATATAAAAG 0.388 11 40 --- --- --- --- PASS IGF2BP2 10644 broad.mit.edu 37 3 185393116 185393116 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:185393116C>T uc003fpo.2 - 9 1118 c.1039G>A c.(1039-1041)GAG>AAG p.E347K IGF2BP2_uc010hyi.2_Missense_Mutation_p.E290K|IGF2BP2_uc010hyj.2_Missense_Mutation_p.E284K|IGF2BP2_uc010hyk.2_Missense_Mutation_p.E211K|IGF2BP2_uc010hyl.2_Missense_Mutation_p.E284K|IGF2BP2_uc003fpp.2_Missense_Mutation_p.E347K|IGF2BP2_uc003fpq.2_Missense_Mutation_p.E352K NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 347 anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) TCAAAGGCCTCACGCAGCTTC 0.453 40 251 --- --- --- --- PASS LPP 4026 broad.mit.edu 37 3 188242542 188242542 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:188242542G>C uc003frs.1 + 5 642 c.396G>C c.(394-396)GAG>GAC p.E132D LPP_uc011bsg.1_Missense_Mutation_p.E132D|LPP_uc011bsi.1_Missense_Mutation_p.E132D|LPP_uc003frt.2_Missense_Mutation_p.E132D NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 132 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CTGACCTTGAGTGCAGCTCCC 0.542 T HMGA2|MLL|C12orf9 lipoma|leukemia 14 299 --- --- --- --- PASS LRRC33 375387 broad.mit.edu 37 3 196387954 196387954 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr3:196387954C>A uc003fwv.2 + 3 1544 c.1440C>A c.(1438-1440)TGC>TGA p.C480* NM_198565 NP_940967 Q86YC3 LRC33_HUMAN leucine rich repeat containing 33 precursor 480 Extracellular (Potential).|LRR 16. integral to membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TGCCAGACTGCCCATTCCAAG 0.597 74 139 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55972058 55972058 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:55972058T>A uc003has.2 - 12 1888 c.1586A>T c.(1585-1587)AAA>ATA p.K529I KDR_uc003hat.1_Missense_Mutation_p.K529I|KDR_uc011bzx.1_Missense_Mutation_p.K529I NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 529 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CGCTTCACATTTGTACAAAGC 0.488 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 53 347 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56841063 56841063 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:56841063A>G uc003hbi.2 + 11 1635 c.1401A>G c.(1399-1401)ATA>ATG p.I467M CEP135_uc003hbj.2_Missense_Mutation_p.I173M NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 467 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TCCAACATATAATACAGCGAA 0.373 60 143 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57215750 57215750 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:57215750T>C uc003hbn.2 - 11 2320 c.2167A>G c.(2167-2169)AAT>GAT p.N723D AASDH_uc010ihb.2_Missense_Mutation_p.N238D|AASDH_uc011caa.1_Missense_Mutation_p.N570D|AASDH_uc003hbo.2_Missense_Mutation_p.N623D|AASDH_uc011cab.1_Missense_Mutation_p.N238D|AASDH_uc010ihc.2_Missense_Mutation_p.N723D|AASDH_uc003hbp.2_Missense_Mutation_p.N723D NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 723 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACTGGAGAATTTAAGCCTTTC 0.398 18 128 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62775413 62775413 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:62775413C>T uc010ihh.2 + 9 1992 c.1819C>T c.(1819-1821)CGG>TGG p.R607W LPHN3_uc003hcq.3_Missense_Mutation_p.R607W|LPHN3_uc003hct.2_Missense_Mutation_p.R13W|LPHN3_uc003hcs.1_Missense_Mutation_p.R436W NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 607 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TGTACAGCTTCGGAACTTGAC 0.428 4 14 --- --- --- --- PASS AMBN 258 broad.mit.edu 37 4 71467291 71467291 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:71467291G>C uc003hfl.2 + 6 526 c.451G>C c.(451-453)GGA>CGA p.G151R NM_016519 NP_057603 Q9NP70 AMBN_HUMAN ameloblastin precursor 151 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel ovary(3)|skin(1) 4 Lung(101;0.235) AATTCACCTGGGACATCTGCC 0.537 OREG0016218 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 139 --- --- --- --- PASS SLC4A4 8671 broad.mit.edu 37 4 72420899 72420899 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:72420899G>A uc003hfy.2 + 21 2854 c.2737G>A c.(2737-2739)GGA>AGA p.G913R SLC4A4_uc010iic.2_Missense_Mutation_p.G913R|SLC4A4_uc010iib.2_Missense_Mutation_p.G829R|SLC4A4_uc003hfz.2_Missense_Mutation_p.G913R|SLC4A4_uc003hgc.3_Missense_Mutation_p.G869R|SLC4A4_uc010iid.2_Missense_Mutation_p.G117R NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate 913 Cytoplasmic (Potential). G -> R (in Ref. 3; AAF21719). basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCTGTATATGGGAGTAGCATC 0.343 87 262 --- --- --- --- PASS PPEF2 5470 broad.mit.edu 37 4 76808007 76808007 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:76808007T>C uc003hix.2 - 7 934 c.577A>G c.(577-579)AAG>GAG p.K193E PPEF2_uc003hiy.2_RNA|PPEF2_uc003hiz.1_Missense_Mutation_p.K193E NM_006239 NP_006230 O14830 PPE2_HUMAN serine/threonine protein phosphatase with 193 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity ovary(2)|lung(1)|central_nervous_system(1) 4 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATTCATACCTTATAAAATATA 0.299 9 134 --- --- --- --- PASS HPSE 10855 broad.mit.edu 37 4 84230076 84230076 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:84230076T>C uc003hoj.3 - 8 1112 c.1013A>G c.(1012-1014)AAG>AGG p.K338R HPSE_uc010ika.2_Missense_Mutation_p.K280R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.K81R|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Missense_Mutation_p.K338R NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 338 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) TAACCAGACCTTCTTGCCAGG 0.498 7 106 --- --- --- --- PASS MMRN1 22915 broad.mit.edu 37 4 90830444 90830444 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:90830444T>A uc003hst.2 + 2 712 c.641T>A c.(640-642)GTA>GAA p.V214E MMRN1_uc010iku.2_Missense_Mutation_p.V180E|MMRN1_uc011cds.1_5'UTR NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 214 EMI. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TGTGCTTATGTACATACCAGG 0.403 44 121 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94344033 94344033 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:94344033G>C uc011cdt.1 + 10 1717 c.1459G>C c.(1459-1461)GAA>CAA p.E487Q GRID2_uc011cdu.1_Missense_Mutation_p.E392Q NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 487 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTTTAACTACGAAATTTACGT 0.418 25 87 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113539940 113539940 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:113539940T>A uc003iau.2 - 6 1469 c.1258A>T c.(1258-1260)AGC>TGC p.S420C C4orf21_uc003iaw.2_Missense_Mutation_p.S420C NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TCTGCACTGCTACAAGTAACC 0.343 30 183 --- --- --- --- PASS BBS12 166379 broad.mit.edu 37 4 123665001 123665001 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:123665001A>T uc003ieu.2 + 2 2147 c.1954A>T c.(1954-1956)ATT>TTT p.I652F NM_152618 NP_689831 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 652 cellular protein metabolic process cilium ATP binding ovary(2) 2 TAATTCAGACATTTCAAATAA 0.368 Bardet-Biedl_syndrome 33 82 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134071448 134071448 + Silent SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:134071448C>G uc003iha.2 + 1 979 c.153C>G c.(151-153)CGC>CGG p.R51R uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.R51R NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 51 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TTTCGGCTCGCGGGTTTCAGA 0.522 16 128 --- --- --- --- PASS NR3C2 4306 broad.mit.edu 37 4 149075852 149075852 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:149075852C>A uc003ilj.3 - 5 2549 c.2215G>T c.(2215-2217)GTT>TTT p.V739F NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 739 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AGGACCATAACGGGGGAAGGT 0.502 64 138 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177084335 177084335 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:177084335G>A uc003iuj.2 + 23 3109 c.2953G>A c.(2953-2955)GAA>AAA p.E985K WDR17_uc003iuk.2_Missense_Mutation_p.E961K|WDR17_uc003ium.3_Missense_Mutation_p.E961K|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.E204K NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 985 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCGCGGAAATGAACTGGAGTT 0.463 35 104 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187535499 187535499 + Splice_Site SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr4:187535499C>G uc003izf.2 - 12 9264 c.9076_splice c.e12-1 p.T3026_splice NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 AATATAAAGTCTGCAAAGAGT 0.378 HNSCC(5;0.00058) 23 48 --- --- --- --- PASS SDHA 6389 broad.mit.edu 37 5 251216 251216 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:251216G>A uc003jao.3 + 12 1776 c.1661G>A c.(1660-1662)CGG>CAG p.R554Q SDHA_uc011clv.1_Missense_Mutation_p.R554Q|SDHA_uc011clw.1_Missense_Mutation_p.R506Q|SDHA_uc003jap.3_Intron|SDHA_uc003jaq.3_Missense_Mutation_p.R329Q|SDHA_uc003jar.3_Missense_Mutation_p.R148Q NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 554 R -> W (in LS). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACGTTCGACCGGGGTGAGCAG 0.562 Familial_Paragangliomas 11 275 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5242217 5242217 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:5242217C>T uc003jdl.2 + 17 2713 c.2575C>T c.(2575-2577)CGC>TGC p.R859C ADAMTS16_uc003jdk.1_Missense_Mutation_p.R859C NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 859 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CTCCATGCCTCGCTTGGGGAC 0.552 6 214 --- --- --- --- PASS TAS2R1 50834 broad.mit.edu 37 5 9629847 9629847 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:9629847C>T uc003jem.1 - 1 617 c.298G>A c.(298-300)GGC>AGC p.G100S NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 100 Helical; Name=3; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TAGAAAACGCCGAGCCATGTG 0.443 4 78 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13917329 13917329 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:13917329T>C uc003jfd.2 - 8 1054 c.1012A>G c.(1012-1014)ACT>GCT p.T338A DNAH5_uc003jfe.1_RNA NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 338 Stem (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) GCTTCATTAGTTGCATCAGTG 0.368 Kartagener_syndrome 17 175 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593422 24593422 + Nonsense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:24593422G>A uc003jgr.1 - 2 510 c.178C>T c.(178-180)CAA>TAA p.Q60* CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 60 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAGAAAAATTGATTCCACATC 0.383 HNSCC(23;0.051) 95 288 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34823967 34823967 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:34823967G>A uc003jir.2 + 15 2216 c.2020G>A c.(2020-2022)GAA>AAA p.E674K RAI14_uc010iur.2_Missense_Mutation_p.E645K|RAI14_uc011coj.1_Missense_Mutation_p.E674K|RAI14_uc003jis.2_Missense_Mutation_p.E677K|RAI14_uc003jit.2_Missense_Mutation_p.E674K|RAI14_uc011cok.1_Missense_Mutation_p.E666K NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 674 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) TGTCACAGCTGAATATATCCA 0.448 14 123 --- --- --- --- PASS PRLR 5618 broad.mit.edu 37 5 35065589 35065589 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:35065589G>A uc003jjm.2 - 10 2001 c.1471C>T c.(1471-1473)CCC>TCC p.P491S PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.P390S NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 491 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AGCAGCCAGGGCGTATCCTGG 0.483 86 241 --- --- --- --- PASS C5orf34 375444 broad.mit.edu 37 5 43487036 43487036 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:43487036A>C uc003jnz.1 - 14 2215 c.1898T>G c.(1897-1899)CTA>CGA p.L633R NM_198566 NP_940968 Q96MH7 CE034_HUMAN hypothetical protein LOC375444 633 breast(1) 1 Lung NSC(6;2.07e-05) AGAGTTTGATAGAAGACAGTC 0.308 68 147 --- --- --- --- PASS ARRDC3 57561 broad.mit.edu 37 5 90667245 90667245 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:90667245T>C uc003kjz.2 - 8 1457 c.1217A>G c.(1216-1218)GAT>GGT p.D406G NM_020801 NP_065852 Q96B67 ARRD3_HUMAN arrestin domain containing 3 406 signal transduction cytoplasm protein binding ovary(1)|breast(1) 2 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) TGGTCTATCATCTGCTGACTG 0.413 15 43 --- --- --- --- PASS AQPEP 206338 broad.mit.edu 37 5 115298562 115298562 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:115298562C>A uc003kro.2 + 1 412 c.248C>A c.(247-249)ACC>AAC p.T83N AQPEP_uc003krp.2_RNA|uc003krn.1_5'UTR NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 83 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 GTGACGACCACCCCGAGCAAC 0.692 15 38 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121187708 121187708 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:121187708C>T uc003kss.2 + 1 59 c.50C>T c.(49-51)GCG>GTG p.A17V NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 17 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CCTTCGCTGGCGTCTCTGCGC 0.726 13 40 --- --- --- --- PASS PCDHA10 56139 broad.mit.edu 37 5 140235897 140235897 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:140235897G>T uc003lhx.2 + 1 264 c.264G>T c.(262-264)CGG>CGT p.R88R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.R88R|PCDHA10_uc011dad.1_Silent_p.R88R NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 88 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAATTCTCGGATTGACCGCG 0.592 81 183 --- --- --- --- PASS PCDHGB4 8641 broad.mit.edu 37 5 140767900 140767900 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:140767900C>T uc003lkc.1 + 1 449 c.449C>T c.(448-450)ACA>ATA p.T150I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.T150I NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 150 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|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) CAGCCTGGCACACGATTTATA 0.423 19 61 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149514533 149514533 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:149514533G>C uc003lro.2 - 4 880 c.411C>G c.(409-411)ATC>ATG p.I137M PDGFRB_uc010jhd.2_Translation_Start_Site|PDGFRB_uc011dcg.1_Missense_Mutation_p.I137M NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 137 Extracellular (Potential).|Ig-like C2-type 2. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCGTGAGAAAGATGAATAGTT 0.453 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 29 84 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153029961 153029961 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:153029961T>A uc003lva.3 + 4 897 c.532T>A c.(532-534)TTG>ATG p.L178M GRIA1_uc003luy.3_Missense_Mutation_p.L178M|GRIA1_uc003luz.3_Missense_Mutation_p.L83M|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.L98M|GRIA1_uc011dcx.1_Missense_Mutation_p.L109M|GRIA1_uc011dcy.1_Missense_Mutation_p.L188M|GRIA1_uc011dcz.1_Missense_Mutation_p.L188M|GRIA1_uc010jia.1_Missense_Mutation_p.L158M NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 178 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTCAACATTTTGACAACCAC 0.498 21 66 --- --- --- --- PASS HK3 3101 broad.mit.edu 37 5 176314610 176314610 + Missense_Mutation SNP C T T rs61741552 byFrequency TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:176314610C>T uc003mfa.2 - 11 1534 c.1442G>A c.(1441-1443)CGC>CAC p.R481H HK3_uc003mez.2_Missense_Mutation_p.R37H NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 481 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCAGCAGGCGCCGGTGGGC 0.662 11 23 --- --- --- --- PASS FGFR4 2264 broad.mit.edu 37 5 176517820 176517820 + Missense_Mutation SNP C G G rs74633199 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr5:176517820C>G uc003mfl.2 + 4 597 c.430C>G c.(430-432)CAG>GAG p.Q144E FGFR4_uc003mfm.2_Missense_Mutation_p.Q144E|FGFR4_uc011dfu.1_Missense_Mutation_p.Q144E|FGFR4_uc011dfv.1_RNA|FGFR4_uc003mfn.1_Missense_Mutation_p.Q144E|FGFR4_uc011dfw.1_Missense_Mutation_p.Q144E|FGFR4_uc003mfo.2_Missense_Mutation_p.Q144E NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 144 Extracellular (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) 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) Palifermin(DB00039) CAGTTACCCCCAGCAAGGTCA 0.562 TSP Lung(9;0.080) 14 54 --- --- --- --- PASS TRIM38 10475 broad.mit.edu 37 6 25967059 25967059 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:25967059C>T uc003nfm.2 + 3 744 c.309C>T c.(307-309)TTC>TTT p.F103F TRIM38_uc003nfn.2_Silent_p.F103F NM_006355 NP_006346 O00635 TRI38_HUMAN tripartite motif-containing 38 103 B box-type. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding 0 TCCACCTGTTCTGCGAAGACG 0.567 24 68 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28327584 28327584 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:28327584G>T uc003nle.3 + 2 437 c.221G>T c.(220-222)TGG>TTG p.W74L ZKSCAN3_uc010jrc.2_Missense_Mutation_p.W74L|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 74 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 TGCCGACAGTGGCTGCAGCCT 0.677 10 35 --- --- --- --- PASS WDR46 9277 broad.mit.edu 37 6 33247137 33247137 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:33247137C>A uc003ods.2 - 15 1793 c.1749G>T c.(1747-1749)CAG>CAT p.Q583H WDR46_uc011dra.1_Missense_Mutation_p.Q529H NM_005452 NP_005443 O15213 WDR46_HUMAN WD repeat domain 46 isoform 1 583 0 GCTGAAGGCTCTGCCGGACCT 0.642 4 185 --- --- --- --- PASS SCUBE3 222663 broad.mit.edu 37 6 35201038 35201038 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:35201038T>A uc003okf.1 + 6 678 c.672T>A c.(670-672)CAT>CAA p.H224Q SCUBE3_uc003okg.1_Missense_Mutation_p.H223Q|SCUBE3_uc003okh.1_Missense_Mutation_p.H95Q NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 224 EGF-like 5. protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 GCGGCTGCCATATCAAGTTTG 0.607 9 20 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38899660 38899660 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:38899660C>T uc003ooe.1 + 74 11297 c.10697C>T c.(10696-10698)CCT>CTT p.P3566L DNAH8_uc003oog.1_Missense_Mutation_p.P15L|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTACCAAATCCTGCCTTTACC 0.328 14 245 --- --- --- --- PASS TCTE1 202500 broad.mit.edu 37 6 44253968 44253968 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:44253968G>A uc003oxi.2 - 3 735 c.579C>T c.(577-579)GTC>GTT p.V193V SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 193 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGAACTGATCGACGTGGACCC 0.652 5 53 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51618128 51618128 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:51618128C>T uc003pah.1 - 57 9097 c.8821G>A c.(8821-8823)GGC>AGC p.G2941S PKHD1_uc010jzn.1_Missense_Mutation_p.G924S|PKHD1_uc003pai.2_Missense_Mutation_p.G2941S NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2941 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATGTGTCGGCCATCCTCCGTG 0.468 19 71 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70812096 70812096 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:70812096A>G uc003pfc.1 + 16 1377 c.1260A>G c.(1258-1260)CCA>CCG p.P420P COL19A1_uc010kam.1_Silent_p.P316P NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 420 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCGGAAAACCAGGACCCCCAG 0.393 32 147 --- --- --- --- PASS PNRC1 10957 broad.mit.edu 37 6 89793726 89793726 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:89793726G>T uc003pmv.2 + 2 980 c.795G>T c.(793-795)AAG>AAT p.K265N PNRC1_uc003pmx.2_Missense_Mutation_p.K80N NM_006813 NP_006804 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 0 all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.102) CGCATTTGAAGAAATCAGCAT 0.373 Multiple Myeloma(7;0.094) 35 149 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123539864 123539864 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:123539864C>A uc003pzj.1 - 41 2094 c.2072G>T c.(2071-2073)TGT>TTT p.C691F TRDN_uc010kem.1_Missense_Mutation_p.C192F NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 691 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CAAGTAGACACACTGGAAGAA 0.398 3 13 --- --- --- --- PASS VNN1 8876 broad.mit.edu 37 6 133013397 133013397 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:133013397C>G uc003qdo.2 - 5 1173 c.1153G>C c.(1153-1155)GGA>CGA p.G385R NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 385 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) GTGTGCAGTCCGTCAAATGCC 0.308 35 184 --- --- --- --- PASS FBXO30 84085 broad.mit.edu 37 6 146126164 146126164 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:146126164T>C uc003qla.2 - 2 1577 c.1378A>G c.(1378-1380)ACT>GCT p.T460A uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 460 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) AGTGAAAAAGTCTGAGTCCCA 0.443 49 254 --- --- --- --- PASS ESR1 2099 broad.mit.edu 37 6 152265432 152265432 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:152265432G>T uc003qom.3 + 6 1255 c.885G>T c.(883-885)CCG>CCT p.P295P ESR1_uc010kin.2_Silent_p.P295P|ESR1_uc010kio.2_Silent_p.P297P|ESR1_uc010kip.2_Silent_p.P294P|ESR1_uc003qon.3_Silent_p.P295P|ESR1_uc003qoo.3_Silent_p.P295P|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.P76P|ESR1_uc010kit.1_Silent_p.P32P|ESR1_uc011eey.1_Silent_p.P32P NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 295 Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGCCAAGCCCGCTCATGATCA 0.562 28 137 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152668193 152668193 + Splice_Site SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:152668193C>A uc010kiw.2 - 73 12680 c.12078_splice c.e73+1 p.R4026_splice SYNE1_uc003qot.3_Splice_Site_p.R3955_splice|SYNE1_uc003qou.3_Splice_Site_p.R4026_splice|SYNE1_uc010kja.1_Splice_Site_p.R731_splice NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGGGCACTCACCCTCTGAGCT 0.483 HNSCC(10;0.0054) 17 76 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152746553 152746553 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:152746553C>T uc010kiw.2 - 39 5832 c.5230G>A c.(5230-5232)GAG>AAG p.E1744K SYNE1_uc003qot.3_Missense_Mutation_p.E1751K|SYNE1_uc003qou.3_Missense_Mutation_p.E1744K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1727K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1744 Spectrin 2.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCATCTCTCATCCAACTGC 0.318 HNSCC(10;0.0054) 44 162 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152762360 152762360 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr6:152762360C>A uc010kiw.2 - 32 4656 c.4054G>T c.(4054-4056)GTA>TTA p.V1352L SYNE1_uc003qot.3_Missense_Mutation_p.V1359L|SYNE1_uc003qou.3_Missense_Mutation_p.V1352L|SYNE1_uc010kjb.1_Missense_Mutation_p.V1335L|SYNE1_uc003qow.2_Missense_Mutation_p.V647L|SYNE1_uc003qox.1_Missense_Mutation_p.V868L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1352 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TATCTTACTACTGTTTCTTTG 0.323 HNSCC(10;0.0054) 8 32 --- --- --- --- PASS GET4 51608 broad.mit.edu 37 7 926205 926205 + Splice_Site SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:926205G>A uc003sjl.1 + 3 327 c.235_splice c.e3-1 p.Q79_splice GET4_uc003sjj.1_Splice_Site NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 TTCTCTTGTAGCAAAACAGTG 0.562 24 205 --- --- --- --- PASS GET4 51608 broad.mit.edu 37 7 926206 926206 + Nonsense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:926206C>T uc003sjl.1 + 3 327 c.235C>T c.(235-237)CAA>TAA p.Q79* GET4_uc003sjj.1_RNA NM_015949 NP_057033 Q7L5D6 GET4_HUMAN hypothetical protein LOC51608 79 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding 0 TCTCTTGTAGCAAAACAGTGC 0.557 25 205 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11464333 11464333 + Nonsense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:11464333G>A uc003ssf.3 - 15 3625 c.3373C>T c.(3373-3375)CGA>TGA p.R1125* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1125 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTCACTTTTCGGGTTTGCACG 0.488 HNSCC(18;0.044) 142 271 --- --- --- --- PASS HOXA3 3200 broad.mit.edu 37 7 27148028 27148028 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:27148028T>A uc011jzl.1 - 3 1038 c.838A>T c.(838-840)ATG>TTG p.M280L HOXA3_uc011jzk.1_Missense_Mutation_p.M122L|HOXA3_uc003syk.2_Missense_Mutation_p.M280L NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 280 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 AGCGAATGCATAGAGTTCAGA 0.657 72 48 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187553 57187553 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:57187553A>G uc010kzo.2 - 5 1840 c.1569T>C c.(1567-1569)TGT>TGC p.C523C NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CATATTATTCACATTTGTAGG 0.353 8 54 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72744195 72744195 + Missense_Mutation SNP G A A rs3950376 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:72744195G>A uc003tya.2 + 4 440 c.308G>A c.(307-309)CGG>CAG p.R103Q FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.R98Q|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 103 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGAGCATGCGGAGAGGAGAG 0.473 7 54 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72744255 72744255 + Missense_Mutation SNP G C C rs1064197 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:72744255G>C uc003tya.2 + 4 500 c.368G>C c.(367-369)TGC>TCC p.C123S FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.C118S|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 123 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) ACGCTGGGCTGCCCTCCCTTG 0.547 10 81 --- --- --- --- PASS FKBP6 8468 broad.mit.edu 37 7 72744316 72744316 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:72744316G>A uc003tya.2 + 4 561 c.429G>A c.(427-429)CTG>CTA p.L143L FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.L138L|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank NM_003602 NP_003593 O75344 FKBP6_HUMAN FK506 binding protein 6 isoform a 143 PPIase FKBP-type. protein folding membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) TTGACTTCCTGGACTGTGCTG 0.498 14 73 --- --- --- --- PASS WBSCR22 114049 broad.mit.edu 37 7 73101371 73101371 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:73101371G>A uc003tyt.2 + 5 366 c.308G>A c.(307-309)GGG>GAG p.G103E WBSCR22_uc010lbi.1_Intron|WBSCR22_uc003tyu.2_Missense_Mutation_p.G103E|WBSCR22_uc003tyv.2_Missense_Mutation_p.G65E|WBSCR22_uc003tyw.1_Intron NM_017528 NP_059998 O43709 WBS22_HUMAN Williams Beuren syndrome chromosome region 22 103 nucleus methyltransferase activity 0 Lung NSC(55;0.0908)|all_lung(88;0.198) CTGCTGCTGGGGGATATGGGC 0.453 5 197 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82764123 82764123 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:82764123C>A uc003uhx.2 - 3 3032 c.2743G>T c.(2743-2745)GCC>TCC p.A915S PCLO_uc003uhv.2_Missense_Mutation_p.A915S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 861 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GATTTGGGGGCATCAGTAATA 0.502 117 106 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86416093 86416093 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:86416093C>A uc003uid.2 + 3 2084 c.985C>A c.(985-987)CCT>ACT p.P329T GRM3_uc010lef.2_Missense_Mutation_p.P327T|GRM3_uc010leg.2_Missense_Mutation_p.P201T|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 329 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GGCCTCCCAGCCTGTCCGCCA 0.642 23 16 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965674 88965674 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:88965674C>A uc011khi.1 + 4 3916 c.3378C>A c.(3376-3378)GAC>GAA p.D1126E NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1126 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGAAACCTGACAAAGTCGAAG 0.338 HNSCC(36;0.09) 89 98 --- --- --- --- PASS TRIM4 89122 broad.mit.edu 37 7 99490142 99490142 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:99490142C>G uc003usd.2 - 7 1277 c.1147G>C c.(1147-1149)GAA>CAA p.E383Q TRIM4_uc003use.2_Missense_Mutation_p.E357Q|TRIM4_uc011kjc.1_Missense_Mutation_p.E213Q NM_033017 NP_148977 Q9C037 TRIM4_HUMAN tripartite motif protein TRIM4 isoform alpha 383 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding ovary(1)|kidney(1) 2 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CTCTCAACTTCCCAGTAATGT 0.468 57 219 --- --- --- --- PASS C7orf47 221908 broad.mit.edu 37 7 100032996 100032996 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:100032996C>T uc003uuy.1 - 4 846 c.749G>A c.(748-750)CGA>CAA p.R250Q C7orf47_uc003uux.1_Missense_Mutation_p.R148Q NM_145030 NP_659467 Q8TAP8 CG047_HUMAN hypothetical protein LOC221908 250 ovary(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGCTTCCCATCGCCTCAGTGT 0.507 4 88 --- --- --- --- PASS PNPLA8 50640 broad.mit.edu 37 7 108142996 108142996 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:108142996A>G uc003vff.1 - 6 1704 c.1297T>C c.(1297-1299)TAT>CAT p.Y433H PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.Y433H|PNPLA8_uc003vfi.1_Missense_Mutation_p.Y333H|PNPLA8_uc003vfj.1_Missense_Mutation_p.Y433H|PNPLA8_uc003vfk.1_Missense_Mutation_p.Y333H NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 433 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 GGATCCACATAGCCAATTAGG 0.353 3 180 --- --- --- --- PASS TMEM209 84928 broad.mit.edu 37 7 129813706 129813706 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:129813706G>T uc003vpn.2 - 12 1541 c.1418C>A c.(1417-1419)ACT>AAT p.T473N TMEM209_uc010lmc.1_Missense_Mutation_p.T431N NM_032842 NP_116231 Q96SK2 TM209_HUMAN transmembrane protein 209 473 integral to membrane ovary(2)|large_intestine(1) 3 Melanoma(18;0.0435) AGAAGTAAAAGTTTTTCCGTC 0.368 161 184 --- --- --- --- PASS WDR91 29062 broad.mit.edu 37 7 134890771 134890771 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:134890771C>T uc003vsp.2 - 5 696 c.634G>A c.(634-636)GAG>AAG p.E212K WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 212 Potential. breast(2)|ovary(1)|skin(1) 4 TGTTGCTCCTCTTTCTTCAGT 0.517 8 300 --- --- --- --- PASS TAS2R4 50832 broad.mit.edu 37 7 141478538 141478538 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:141478538T>C uc003vwq.1 + 1 250 c.250T>C c.(250-252)TTT>CTT p.F84L NM_016944 NP_058640 Q9NYW5 TA2R4_HUMAN taste receptor T2R4 84 Helical; Name=3; (Potential). sensory perception of taste cilium membrane taste receptor activity 0 Melanoma(164;0.0171) BRCA - Breast invasive adenocarcinoma(188;0.196) GTCTGCTTTTTTTGTGTTGTG 0.428 118 233 --- --- --- --- PASS ZNF282 8427 broad.mit.edu 37 7 148910796 148910796 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:148910796C>G uc003wfm.2 + 7 1175 c.1070C>G c.(1069-1071)TCT>TGT p.S357C ZNF282_uc011kun.1_Missense_Mutation_p.S357C|ZNF282_uc003wfn.2_Missense_Mutation_p.S297C|ZNF282_uc003wfo.2_Intron NM_003575 NP_003566 Q9UDV7 ZN282_HUMAN zinc finger protein 282 357 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) ACAACAGAGTCTCTCATCTCA 0.498 19 29 --- --- --- --- PASS SSPO 23145 broad.mit.edu 37 7 149486368 149486368 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:149486368G>A uc010lpk.2 + 30 4344 c.4344G>A c.(4342-4344)CCG>CCA p.P1448P NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 1448 LDL-receptor class A 2. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGGATGAGCCGAGCTATCCGT 0.687 12 28 --- --- --- --- PASS GIMAP6 474344 broad.mit.edu 37 7 150324861 150324861 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:150324861G>T uc003whn.2 - 3 1249 c.825C>A c.(823-825)ATC>ATA p.I275I GIMAP6_uc003whm.2_Silent_p.I195I NM_024711 NP_078987 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 275 GTP binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATTCCTTCTGGATCTGGGACA 0.567 100 90 --- --- --- --- PASS GIMAP2 26157 broad.mit.edu 37 7 150389460 150389460 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:150389460G>A uc003who.2 + 3 174 c.86G>A c.(85-87)GGC>GAC p.G29D GIMAP1_uc003whp.2_Intron NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 29 GTP (Potential). integral to membrane GTP binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCTGGTGGGCAAAACAGGA 0.507 13 78 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 152009027 152009027 + Nonsense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr7:152009027G>A uc003wla.2 - 5 814 c.595C>T c.(595-597)CGA>TGA p.R199* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 199 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGAGGAGATCGTTCTCTGAAA 0.348 N medulloblastoma 41 144 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2820851 2820851 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:2820851C>A uc011kwk.1 - 60 9740 c.9350G>T c.(9349-9351)GGC>GTC p.G3117V CSMD1_uc011kwj.1_Missense_Mutation_p.G2446V|CSMD1_uc010lrg.2_Missense_Mutation_p.G1008V NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3117 Sushi 25.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TATGCTGGAGCCCCAGCGGAA 0.562 57 147 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 3263612 3263612 + Missense_Mutation SNP A T T rs115440730 by1000genomes TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:3263612A>T uc011kwk.1 - 15 2596 c.2206T>A c.(2206-2208)TCC>ACC p.S736T CSMD1_uc011kwj.1_Missense_Mutation_p.S128T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 736 Sushi 4.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAGGTAATGGACTCGGATCCC 0.552 6 56 --- --- --- --- PASS DEFB136 613210 broad.mit.edu 37 8 11832058 11832058 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:11832058A>G uc011kxm.1 - 1 51 c.51T>C c.(49-51)CCT>CCC p.P17P NM_001033018 NP_001028190 Q30KP8 DB136_HUMAN beta-defensin 136 precursor 17 defense response to bacterium extracellular region 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) TCTTACCTGAAGGCAGTAAGA 0.483 41 220 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12957578 12957578 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:12957578G>T uc003wwm.2 - 9 2712 c.2268C>A c.(2266-2268)CCC>CCA p.P756P DLC1_uc003wwk.1_Silent_p.P319P|DLC1_uc003wwl.1_Silent_p.P353P|DLC1_uc011kxx.1_Silent_p.P245P NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 756 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TAACAGGGCTGGGCGTGCTGA 0.582 4 59 --- --- --- --- PASS TMEM66 51669 broad.mit.edu 37 8 29927357 29927357 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:29927357C>A uc003xhs.2 - 3 685 c.501G>T c.(499-501)TCG>TCT p.S167S TMEM66_uc003xht.2_Silent_p.S167S|TMEM66_uc003xhu.2_Silent_p.S131S|TMEM66_uc003xhv.2_5'UTR NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 167 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) AGGAATCCGCCGAGGACCACT 0.438 13 108 --- --- --- --- PASS PROSC 11212 broad.mit.edu 37 8 37623233 37623233 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:37623233A>C uc003xkh.2 + 3 289 c.212A>C c.(211-213)CAG>CCG p.Q71P NM_007198 NP_009129 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog 71 pyridoxal phosphate binding central_nervous_system(1) 1 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) TTTTAGGTTCAGGAACTGCTA 0.393 84 313 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52732955 52732955 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:52732955G>T uc003xqx.3 - 6 1371 c.1030C>A c.(1030-1032)CCT>ACT p.P344T PCMTD1_uc011ldm.1_Missense_Mutation_p.P214T|PCMTD1_uc003xqw.3_Missense_Mutation_p.P344T|PCMTD1_uc011ldn.1_Missense_Mutation_p.P156T|PCMTD1_uc010lya.2_Missense_Mutation_p.P268T NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 344 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) AAAGATTCAGGGAGGGGCAGC 0.308 4 150 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87656009 87656009 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:87656009G>T uc003ydx.2 - 10 1194 c.1148C>A c.(1147-1149)ACT>AAT p.T383N CNGB3_uc010maj.2_Missense_Mutation_p.T245N NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 383 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 CACCCATCTAGTAGTGCCAAT 0.343 39 236 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89179936 89179936 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:89179936G>T uc003yeb.3 - 4 953 c.671C>A c.(670-672)TCA>TAA p.S224* MMP16_uc003yec.2_Nonsense_Mutation_p.S224* NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 224 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TGGCTCATCTGAGTCAAAATG 0.413 61 88 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100836079 100836079 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:100836079C>T uc003yiv.2 + 51 9389 c.9278C>T c.(9277-9279)TCC>TTC p.S3093F VPS13B_uc003yiw.2_Missense_Mutation_p.S3068F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 3093 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCTGCATTTCCTCCATGGTA 0.289 14 415 --- --- --- --- PASS RRM2B 50484 broad.mit.edu 37 8 103251071 103251071 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:103251071C>G uc003ykn.2 - 1 276 c.32G>C c.(31-33)GGG>GCG p.G11A RRM2B_uc003yko.2_5'Flank|RRM2B_uc010mbv.1_Missense_Mutation_p.G11A|RRM2B_uc010mbw.1_Missense_Mutation_p.G11A|RRM2B_uc010mbx.1_RNA|RRM2B_uc010mby.1_RNA NM_015713 NP_056528 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 11 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding ovary(2) 2 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) CTGATCCAGCCCGGCCGCTTC 0.617 Direct_reversal_of_damage|Modulation_of_nucleotide_pools 40 44 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105105769 105105769 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:105105769G>T uc003yls.2 + 21 3033 c.2792G>T c.(2791-2793)AGT>ATT p.S931I RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.S1004I|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGTGATGTAAGTGATATATCT 0.428 HNSCC(12;0.0054) 26 264 --- --- --- --- PASS EIF3E 3646 broad.mit.edu 37 8 109241403 109241403 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:109241403C>T uc003ymu.2 - 6 521 c.493G>A c.(493-495)GCT>ACT p.A165T EIF3E_uc003ymt.2_Missense_Mutation_p.A116T|EIF3E_uc003ymv.2_Missense_Mutation_p.A72T|EIF3E_uc010mci.1_Missense_Mutation_p.A165T NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 165 Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GAACTTAAAGCATTTCTATCT 0.348 71 83 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113662392 113662392 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:113662392T>A uc003ynu.2 - 19 3350 c.3191A>T c.(3190-3192)GAT>GTT p.D1064V CSMD3_uc003yns.2_Missense_Mutation_p.D336V|CSMD3_uc003ynt.2_Missense_Mutation_p.D1024V|CSMD3_uc011lhx.1_Missense_Mutation_p.D960V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1064 Extracellular (Potential).|Sushi 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTTATTACCATCACAGGTTGG 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 75 95 --- --- --- --- PASS WDYHV1 55093 broad.mit.edu 37 8 124440252 124440252 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:124440252G>C uc003yqn.1 + 2 297 c.172G>C c.(172-174)GAG>CAG p.E58Q WDYHV1_uc011lij.1_5'UTR|WDYHV1_uc003yqo.1_5'Flank NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 58 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 CATATCTAATGAGAGGAAGAT 0.303 45 288 --- --- --- --- PASS SQLE 6713 broad.mit.edu 37 8 126011677 126011677 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:126011677C>A uc011liq.1 + 1 958 c.32C>A c.(31-33)ACC>AAC p.T11N NM_003129 NP_003120 Q14534 ERG1_HUMAN squalene epoxidase 11 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity ovary(1)|breast(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) GCCACTTTCACCTATTTTTAT 0.522 22 32 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131792917 131792917 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:131792917T>C uc003ytd.3 - 18 3731 c.3475A>G c.(3475-3477)AGT>GGT p.S1159G ADCY8_uc010mds.2_Missense_Mutation_p.S1028G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1159 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCTGTTCACTGATACCCTTC 0.507 HNSCC(32;0.087) 18 244 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131949360 131949360 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr8:131949360G>T uc003ytd.3 - 5 1696 c.1440C>A c.(1438-1440)CAC>CAA p.H480Q ADCY8_uc010mds.2_Missense_Mutation_p.H480Q NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 480 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAACACAGCAGTGGGCATGGT 0.517 HNSCC(32;0.087) 58 86 --- --- --- --- PASS RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:6012658T>G uc003zjr.2 - 1 2961 c.2950A>C c.(2950-2952)ATA>CTA p.I984L RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 984 HEAT 7. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363 3 130 --- --- --- --- PASS CER1 9350 broad.mit.edu 37 9 14720297 14720297 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:14720297C>T uc003zlj.2 - 2 640 c.595G>A c.(595-597)GCG>ACG p.A199T NM_005454 NP_005445 O95813 CER1_HUMAN cerberus 1 precursor 199 CTCK. BMP signaling pathway extracellular space cytokine activity 0 GBM - Glioblastoma multiforme(50;3.16e-06) GAGTGCTGCGCGGCTCCAGGA 0.488 21 59 --- --- --- --- PASS ZNF462 58499 broad.mit.edu 37 9 109687239 109687239 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:109687239A>C uc004bcz.2 + 3 1335 c.1046A>C c.(1045-1047)AAG>ACG p.K349T ZNF462_uc010mto.2_Missense_Mutation_p.K197T|ZNF462_uc004bda.2_Missense_Mutation_p.K197T NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 349 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 ATGAAGCCGAAGTCACCTCAC 0.478 16 44 --- --- --- --- PASS ACTL7B 10880 broad.mit.edu 37 9 111617377 111617377 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:111617377G>A uc004bdi.2 - 1 899 c.834C>T c.(832-834)CGC>CGT p.R278R NM_006686 NP_006677 Q9Y614 ACL7B_HUMAN actin-like 7B 278 actin cytoskeleton|cytoplasm structural constituent of cytoskeleton pancreas(1) 1 CGTAGTCCACGCGCAGCTCCT 0.627 17 45 --- --- --- --- PASS SLC31A2 1318 broad.mit.edu 37 9 115925107 115925107 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:115925107A>G uc004bgq.2 + 4 459 c.342A>G c.(340-342)GTA>GTG p.V114V NM_001860 NP_001851 O15432 COPT2_HUMAN solute carrier family 31 (copper transporters), 114 Helical; (Potential). integral to plasma membrane copper ion transmembrane transporter activity 0 TGCTGGCCGTAATGTCCTACA 0.493 64 156 --- --- --- --- PASS KIF12 113220 broad.mit.edu 37 9 116854706 116854706 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:116854706G>T uc004bif.2 - 15 1547 c.1309C>A c.(1309-1311)CGA>AGA p.R437R KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 570 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GCCAGGACTCGGGTCTGAGTC 0.612 4 94 --- --- --- --- PASS MEGF9 1955 broad.mit.edu 37 9 123367532 123367532 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:123367532C>T uc004bkj.1 - 8 1856 c.1856G>A c.(1855-1857)GGC>GAC p.G619D MEGF9_uc011lyb.1_Missense_Mutation_p.G574D NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 582 Cytoplasmic (Potential). integral to membrane calcium ion binding 0 CACTTCATTGCCATCATCTTC 0.468 55 129 --- --- --- --- PASS MEGF9 1955 broad.mit.edu 37 9 123367533 123367533 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr9:123367533C>G uc004bkj.1 - 8 1855 c.1855G>C c.(1855-1857)GGC>CGC p.G619R MEGF9_uc011lyb.1_Missense_Mutation_p.G574R NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 582 Cytoplasmic (Potential). integral to membrane calcium ion binding 0 ACTTCATTGCCATCATCTTCC 0.468 55 134 --- --- --- --- PASS CALML5 51806 broad.mit.edu 37 10 5541104 5541104 + Missense_Mutation SNP C A A rs147358772 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:5541104C>A uc001iic.2 - 1 430 c.298G>T c.(298-300)GTG>TTG p.V100L NM_017422 NP_059118 Q9NZT1 CALL5_HUMAN calmodulin-like 5 100 EF-hand 3.|3 (Potential). epidermis development|signal transduction calcium ion binding|protein binding 0 AGCTCGTCCACGGTGATGTGG 0.726 5 22 --- --- --- --- PASS FAM171A1 221061 broad.mit.edu 37 10 15296787 15296787 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:15296787C>A uc001iob.2 - 4 517 c.510G>T c.(508-510)ACG>ACT p.T170T NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 170 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 AGCTGGCGGCCGTGAGAAACG 0.542 8 69 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15600085 15600085 + Silent SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:15600085A>C uc001ioc.1 - 26 2754 c.2754T>G c.(2752-2754)CCT>CCG p.P918P ITGA8_uc010qcb.1_Silent_p.P903P NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 918 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 GTATTTTTGCAGGGCTCTGTC 0.453 30 164 --- --- --- --- PASS RSU1 6251 broad.mit.edu 37 10 16737123 16737123 + Silent SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:16737123T>A uc001iok.2 - 7 932 c.630A>T c.(628-630)GTA>GTT p.V210V RSU1_uc001iol.2_Silent_p.V210V|RSU1_uc001iom.2_Silent_p.V157V NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 210 cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) CTGCTTTGAATACCTGCTTCT 0.463 33 52 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25840014 25840014 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:25840014G>C uc001isj.2 + 6 1574 c.1514G>C c.(1513-1515)AGG>ACG p.R505T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 505 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AAACTTCACAGGTATATACAT 0.408 36 209 --- --- --- --- PASS ACBD5 91452 broad.mit.edu 37 10 27507019 27507019 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:27507019T>C uc010qdp.1 - 7 910 c.719A>G c.(718-720)CAG>CGG p.Q240R ACBD5_uc010qdm.1_Missense_Mutation_p.Q238R|ACBD5_uc010qdn.1_Missense_Mutation_p.Q131R|ACBD5_uc010qdo.1_Intron|ACBD5_uc001ito.2_Missense_Mutation_p.Q205R|ACBD5_uc001itp.2_Missense_Mutation_p.Q131R|ACBD5_uc001itq.2_Missense_Mutation_p.Q131R|ACBD5_uc001itr.1_Missense_Mutation_p.Q29R NM_145698 NP_663736 Q5T8D3 ACBD5_HUMAN acyl-Coenzyme A binding domain containing 5 249 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding 0 AATGTCATTCTGTATATCCTG 0.388 46 265 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38343954 38343954 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:38343954A>G uc001izh.2 + 5 1077 c.899A>G c.(898-900)TAT>TGT p.Y300C ZNF33A_uc001izg.2_Missense_Mutation_p.Y301C|ZNF33A_uc010qev.1_Missense_Mutation_p.Y307C|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 300 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 ATGAAACACTATGATTGTGGT 0.383 36 174 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50723928 50723928 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:50723928G>T uc001jht.2 - 2 1488 c.1233C>A c.(1231-1233)TGC>TGA p.C411* ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Nonsense_Mutation_p.C879*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.C879* NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 411 pancreas(1)|breast(1)|skin(1) 3 CATTCCATCTGCAGACAATAT 0.408 50 163 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50723929 50723929 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:50723929C>T uc001jht.2 - 2 1487 c.1232G>A c.(1231-1233)TGC>TAC p.C411Y ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.C879Y|PGBD3_uc001jhu.2_Missense_Mutation_p.C879Y NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 411 pancreas(1)|breast(1)|skin(1) 3 ATTCCATCTGCAGACAATATT 0.413 48 165 --- --- --- --- PASS OGDHL 55753 broad.mit.edu 37 10 50957775 50957775 + Silent SNP G A A rs35599320 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:50957775G>A uc001jie.2 - 8 1126 c.984C>T c.(982-984)GAC>GAT p.D328D OGDHL_uc009xog.2_Silent_p.D355D|OGDHL_uc010qgt.1_Silent_p.D271D|OGDHL_uc010qgu.1_Silent_p.D119D|OGDHL_uc009xoh.2_Silent_p.D119D NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 328 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 CACCCACCTCGTCCGCCGCCT 0.647 8 7 --- --- --- --- PASS CCDC6 8030 broad.mit.edu 37 10 61574417 61574417 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:61574417C>T uc001jks.3 - 4 1315 c.679G>A c.(679-681)GAA>AAA p.E227K NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 227 5.|5 X 29 AA tandem repeats.|Potential. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3)|breast(1) 4 Kidney(211;0.0597) AACCGCTTTTCAGCTTCAAGC 0.383 30 101 --- --- --- --- PASS DDIT4 54541 broad.mit.edu 37 10 74034470 74034470 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:74034470G>C uc001jsx.1 + 3 425 c.223G>C c.(223-225)GGG>CGG p.G75R NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 75 apoptosis pancreas(1) 1 TTACCTGGATGGGGTGTCGTT 0.587 85 151 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87373301 87373301 + Missense_Mutation SNP C T T rs143982305 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:87373301C>T uc001kdl.1 - 15 2565 c.2464G>A c.(2464-2466)GAC>AAC p.D822N GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.D393N NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 822 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) GATTTGCCGTCGGCCTGGGCG 0.657 Multiple Myeloma(13;0.14) 10 61 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89692898 89692898 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:89692898A>C uc001kfb.2 + 6 1413 c.382A>C c.(382-384)AAG>CAG p.K128Q NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 128 Phosphatase tensin-type. K->M: 85% reduction in phosphatase activity towards PtdIns(3,4,5)P3.|K->R: Does not reduce phosphatase activity towards PtdIns(3,4,5)P3. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.K128N(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TAAAGCTGGAAAGGGACGAAC 0.418 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 74 114 --- --- --- --- PASS CYP26A1 1592 broad.mit.edu 37 10 94834612 94834612 + Missense_Mutation SNP T C C rs148053802 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:94834612T>C uc001kil.2 + 3 536 c.491T>C c.(490-492)CTG>CCG p.L164P CYP26A1_uc001kik.1_Missense_Mutation_p.L95P|CYP26A1_uc001kim.1_Missense_Mutation_p.L62P NM_000783 NP_000774 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, 164 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 Colorectal(252;0.122) GGCAGCAGCCTGGAGCAGTGG 0.652 11 58 --- --- --- --- PASS PKD2L1 9033 broad.mit.edu 37 10 102089039 102089039 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr10:102089039C>A uc001kqx.1 - 2 661 c.278G>T c.(277-279)CGG>CTG p.R93L PKD2L1_uc009xwm.1_Missense_Mutation_p.R46L NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 93 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) ATAAAGTTCCCGGTTCTCAGC 0.502 47 100 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020437 5020437 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:5020437G>T uc010qyu.1 + 1 225 c.225G>T c.(223-225)ATG>ATT p.M75I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACCTGGGGATGTCCCTGTCTA 0.463 25 144 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153675 5153675 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:5153675G>T uc010qyx.1 - 1 198 c.198C>A c.(196-198)GCC>GCA p.A66A NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) CTGCCAACATGGCCAAAAAAA 0.383 14 74 --- --- --- --- PASS OR2D3 120775 broad.mit.edu 37 11 6943116 6943116 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:6943116C>A uc010rav.1 + 1 884 c.884C>A c.(883-885)ACA>AAA p.T295K NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGTTCTATACAGCGGTGACT 0.408 16 137 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7059857 7059857 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:7059857G>T uc001mfb.1 + 2 363 c.40G>T c.(40-42)GGG>TGG p.G14W NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 14 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TCCTGATTTTGGGCTGCTATT 0.403 22 175 --- --- --- --- PASS OR5P2 120065 broad.mit.edu 37 11 7818326 7818326 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:7818326A>G uc001mfp.1 - 1 164 c.164T>C c.(163-165)ATG>ACG p.M55T NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAGAAATACATAGGATGATG 0.408 14 68 --- --- --- --- PASS USP47 55031 broad.mit.edu 37 11 11969555 11969555 + Missense_Mutation SNP T G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:11969555T>G uc001mjs.2 + 21 3918 c.3155T>G c.(3154-3156)TTT>TGT p.F1052C USP47_uc001mjr.2_Missense_Mutation_p.F984C|USP47_uc009ygi.2_5'Flank NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1072 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding ovary(1)|skin(1) 2 Epithelial(150;0.000339) TTAGAGCCCTTTGTTGGAGTT 0.393 29 173 --- --- --- --- PASS ELP4 26610 broad.mit.edu 37 11 31531381 31531381 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:31531381C>T uc001mtb.2 + 1 85 c.50C>T c.(49-51)GCA>GTA p.A17V IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.A17V|ELP4_uc010rdz.1_Missense_Mutation_p.A17V|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 17 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) ACTGGGTCTGCAGTGGCGACA 0.597 8 50 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49168457 49168457 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:49168457C>T uc001ngy.2 - 19 2365 c.2104G>A c.(2104-2106)GGG>AGG p.G702R FOLH1_uc001ngx.2_Silent_p.Q101Q|FOLH1_uc001ngz.2_Missense_Mutation_p.G671R|FOLH1_uc009yly.2_Missense_Mutation_p.G687R|FOLH1_uc009ylz.2_Missense_Mutation_p.G656R|FOLH1_uc009yma.2_Missense_Mutation_p.G394R NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 702 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AATGACTCCCCTGCATACTTG 0.423 14 105 --- --- --- --- PASS OR5D13 390142 broad.mit.edu 37 11 55541644 55541644 + Missense_Mutation SNP C T T rs76632744 by1000genomes TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:55541644C>T uc010ril.1 + 1 731 c.731C>T c.(730-732)GCC>GTC p.A244V NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TCCACCTGTGCCTCCCACCTG 0.423 17 108 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587827 55587827 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:55587827C>A uc010rin.1 + 1 722 c.722C>A c.(721-723)ACC>AAC p.T241N NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GCCTTCTCCACCTGTGCCTCC 0.507 7 87 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55657498 55657498 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:55657498G>A uc010rip.1 + 6 934 c.842G>A c.(841-843)AGC>AAC p.S281N SPRYD5_uc010riq.1_Missense_Mutation_p.S138N NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 281 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) CTGCTGGACAGCCTCAGTGGA 0.502 10 50 --- --- --- --- PASS OR8K5 219453 broad.mit.edu 37 11 55927594 55927594 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:55927594G>T uc010rja.1 - 1 200 c.200C>A c.(199-201)GCT>GAT p.A67D NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) ATCAACAAAAGCCAAATGTCT 0.393 14 131 --- --- --- --- PASS OR8K1 390157 broad.mit.edu 37 11 56113543 56113543 + Missense_Mutation SNP C A A rs140629640 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:56113543C>A uc010rjg.1 + 1 29 c.29C>A c.(28-30)ACG>AAG p.T10K NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CACAATCACACGGCAGTGACC 0.373 HNSCC(65;0.19) 17 71 --- --- --- --- PASS UBE2L6 9246 broad.mit.edu 37 11 57319921 57319921 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:57319921G>T uc001nkn.1 - 4 468 c.372C>A c.(370-372)GAC>GAA p.D124E UBE2L6_uc001nko.1_Missense_Mutation_p.D58E NM_004223 NP_004214 O14933 UB2L6_HUMAN ubiquitin-conjugating enzyme E2L 6 isoform 1 124 negative regulation of type I interferon production cytosol protein binding|ubiquitin-protein ligase activity ovary(1) 1 GGTCAGCGAGGTCCATCCGCA 0.567 35 258 --- --- --- --- PASS MS4A10 341116 broad.mit.edu 37 11 60557884 60557884 + Nonsense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:60557884C>T uc001npz.1 + 2 172 c.76C>T c.(76-78)CAG>TAG p.Q26* NM_206893 NP_996776 Q96PG2 M4A10_HUMAN membrane-spanning 4-domains, subfamily A, member 26 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 CAGCCCAGTCCAGCCCTGGCA 0.592 23 126 --- --- --- --- PASS HNRNPUL2 221092 broad.mit.edu 37 11 62490109 62490109 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:62490109C>G uc001nuw.2 - 6 1252 c.1059G>C c.(1057-1059)CAG>CAC p.Q353H HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 353 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 CCCCAAAAGTCTGGCCAAATT 0.428 14 117 --- --- --- --- PASS POLA2 23649 broad.mit.edu 37 11 65062070 65062070 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:65062070C>T uc001odj.2 + 15 1749 c.1407C>T c.(1405-1407)TTC>TTT p.F469F POLA2_uc010rod.1_Silent_p.F261F|POLA2_uc001odk.2_Silent_p.F166F NM_002689 NP_002680 Q14181 DPOA2_HUMAN DNA-directed DNA polymerase alpha 2 469 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|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding 0 Dacarbazine(DB00851) GAGTGATCTTCGGCTTGACAT 0.493 11 114 --- --- --- --- PASS CTSW 1521 broad.mit.edu 37 11 65648993 65648993 + Splice_Site SNP T G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:65648993T>G uc001ogc.1 + 3 328 c.286_splice c.e3+2 p.E96_splice CTSW_uc001ogb.1_Splice_Site_p.E96_splice NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) ACCTCACAGGTACCATTAACC 0.577 116 719 --- --- --- --- PASS NPAS4 266743 broad.mit.edu 37 11 66191103 66191103 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:66191103C>T uc001ohx.1 + 6 1039 c.863C>T c.(862-864)ACT>ATT p.T288I NPAS4_uc010rpc.1_Missense_Mutation_p.T78I NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 288 PAC. transcription, DNA-dependent DNA binding|signal transducer activity 0 CAGGCCAAGACTGGAGGCTGG 0.522 13 90 --- --- --- --- PASS TCIRG1 10312 broad.mit.edu 37 11 67818063 67818063 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:67818063G>T uc001one.2 + 19 2454 c.2346G>T c.(2344-2346)GTG>GTT p.V782V TCIRG1_uc001ong.2_Silent_p.V566V|TCIRG1_uc001onh.2_Silent_p.V484V|TCIRG1_uc001oni.2_Silent_p.V286V|TCIRG1_uc009ysd.2_Intron NM_006019 NP_006010 Q13488 VPP3_HUMAN T-cell, immune regulator 1 isoform a 782 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity ovary(1) 1 CCTTTGCCGTGATGACCGTGG 0.667 17 93 --- --- --- --- PASS MRGPRD 116512 broad.mit.edu 37 11 68748106 68748106 + Missense_Mutation SNP G A A rs147515740 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:68748106G>A uc010rqf.1 - 1 350 c.350C>T c.(349-351)ACG>ATG p.T117M NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 117 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCTGATGGCCGTCAGCAGGCT 0.592 7 42 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102592384 102592384 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:102592384G>T uc001phe.2 - 3 556 c.457C>A c.(457-459)CAG>AAG p.Q153K MMP8_uc010rut.1_Missense_Mutation_p.Q88K|MMP8_uc010ruu.1_Missense_Mutation_p.Q130K NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 153 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) GCCTCTCCCTGTGAGATCCTG 0.463 22 62 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107309855 107309855 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:107309855G>C uc010rvp.1 - 6 655 c.625C>G c.(625-627)CTT>GTT p.L209V CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 209 Potential. catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCAGGTGGAAGACCTGTCCCA 0.308 3 30 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108170460 108170460 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:108170460G>T uc001pkb.1 + 34 5410 c.5025G>T c.(5023-5025)TTG>TTT p.L1675F ATM_uc009yxr.1_Missense_Mutation_p.L1675F|ATM_uc001pke.1_Missense_Mutation_p.L327F|ATM_uc001pkg.1_Missense_Mutation_p.L32F NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1675 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAAGCTGCTTGGGAGAAGTGG 0.333 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 20 157 --- --- --- --- PASS SCN3B 55800 broad.mit.edu 37 11 123516345 123516345 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:123516345T>A uc001pza.1 - 3 576 c.169A>T c.(169-171)ACC>TCC p.T57S SCN3B_uc001pzb.1_Missense_Mutation_p.T57S NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 57 Ig-like C2-type.|Extracellular (Potential). axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) ACCACCGTGGTGGCCTCCACC 0.587 30 138 --- --- --- --- PASS CHEK1 1111 broad.mit.edu 37 11 125523664 125523664 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:125523664G>T uc009zbo.2 + 12 2149 c.1257G>T c.(1255-1257)AGG>AGT p.R419S CHEK1_uc010sbh.1_Missense_Mutation_p.R435S|CHEK1_uc010sbi.1_Intron|CHEK1_uc001qcf.3_Missense_Mutation_p.R419S|CHEK1_uc009zbp.2_Missense_Mutation_p.R419S|CHEK1_uc001qcg.3_Missense_Mutation_p.R419S|CHEK1_uc009zbq.2_Missense_Mutation_p.R375S|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_Missense_Mutation_p.R67S NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 419 Autoinhibitory region. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) CAACTGATAGGAGAAACAATA 0.254 Other_conserved_DNA_damage_response_genes 27 155 --- --- --- --- PASS RPUSD4 84881 broad.mit.edu 37 11 126075365 126075365 + Missense_Mutation SNP G A A rs149309585 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr11:126075365G>A uc001qde.2 - 5 848 c.794C>T c.(793-795)ACT>ATT p.T265I RPUSD4_uc010sbl.1_Missense_Mutation_p.T72I|RPUSD4_uc009zbz.2_Missense_Mutation_p.T234I|RPUSD4_uc009zby.2_RNA NM_032795 NP_116184 Q96CM3 RUSD4_HUMAN RNA pseudouridylate synthase domain containing 4 265 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding breast(1) 1 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761) ACTCTCACCAGTGATGGGCTG 0.577 22 56 --- --- --- --- PASS GALNT8 26290 broad.mit.edu 37 12 4874620 4874620 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:4874620C>A uc001qne.1 + 10 1761 c.1669C>A c.(1669-1671)CTG>ATG p.L557M NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 557 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 TGATCGCTGCCTGACAGACCC 0.433 4 198 --- --- --- --- PASS ANO2 57101 broad.mit.edu 37 12 5853393 5853393 + Silent SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:5853393C>G uc001qnm.2 - 12 1341 c.1269G>C c.(1267-1269)GGG>GGC p.G423G NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 428 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CCTGCGCGGTCCCACAGGCTG 0.537 116 67 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6707131 6707131 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:6707131C>T uc001qpo.2 - 12 1985 c.1821G>A c.(1819-1821)GAG>GAA p.E607E CHD4_uc001qpn.2_Silent_p.E600E|CHD4_uc001qpp.2_Silent_p.E604E NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 607 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GTTCCTCCATCTCTGCAAATT 0.502 68 511 --- --- --- --- PASS TAS2R30 259293 broad.mit.edu 37 12 11286736 11286736 + Silent SNP G A A rs112605675 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:11286736G>A uc009zhs.1 - 1 108 c.108C>T c.(106-108)GTC>GTT p.V36V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 TTTGTCTCTTGACCCACTCAA 0.388 25 186 --- --- --- --- PASS KIAA1467 57613 broad.mit.edu 37 12 13214634 13214634 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:13214634G>C uc001rbi.2 + 4 681 c.658G>C c.(658-660)GCT>CCT p.A220P KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 220 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) AGGAAGCTTGGCTGAAACCAT 0.488 9 125 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15742454 15742454 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:15742454A>C uc001rcv.1 + 25 3650 c.3476A>C c.(3475-3477)CAT>CCT p.H1159P PTPRO_uc001rcw.1_Missense_Mutation_p.H1131P|PTPRO_uc001rcx.1_Missense_Mutation_p.H348P|PTPRO_uc001rcy.1_Missense_Mutation_p.H348P|PTPRO_uc001rcz.1_Missense_Mutation_p.H320P|PTPRO_uc001rda.1_Missense_Mutation_p.H320P NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 1159 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) ATTCGGGATCATGAGTTTGTT 0.443 89 349 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21327532 21327532 + Missense_Mutation SNP T G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:21327532T>G uc001req.3 + 4 352 c.248T>G c.(247-249)TTT>TGT p.F83C NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 83 Helical; Name=2; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTGATTGTATTTGTGAGTTAC 0.358 25 160 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26628297 26628297 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:26628297C>G uc001rhg.2 - 45 6691 c.6274G>C c.(6274-6276)GAT>CAT p.D2092H ITPR2_uc009zjg.1_Missense_Mutation_p.D243H NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2092 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CCACCCTCATCATCCCCATGG 0.373 13 166 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31286812 31286812 + Splice_Site SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:31286812C>A uc010sjy.1 - 19 2682 c.2682_splice c.e19+1 p.E894_splice RecName: Full=Ovostatin homolog 1; Flags: Precursor; CATATCCATACCTCTACTAAG 0.383 48 20 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31307356 31307356 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:31307356T>C uc010sjy.1 - 7 724 c.724A>G c.(724-726)AAA>GAA p.K242E RecName: Full=Ovostatin homolog 1; Flags: Precursor; ATTTGGGTTTTCCCTTGCACA 0.383 3 54 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40265601 40265601 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:40265601T>C uc010skm.1 - 5 1248 c.1197A>G c.(1195-1197)GCA>GCG p.A399A C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Silent_p.A46A NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 399 Helical; Name=9; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) GCCACCTACCTGCTAAACTAC 0.373 HNSCC(50;0.14) 22 82 --- --- --- --- PASS AQP6 363 broad.mit.edu 37 12 50368590 50368590 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:50368590G>C uc001rvr.1 + 3 960 c.623G>C c.(622-624)GGG>GCG p.G208A AQP6_uc001rvp.1_Missense_Mutation_p.G34A|AQP6_uc001rvq.1_RNA NM_001652 NP_001643 Q13520 AQP6_HUMAN aquaporin 6 208 Extracellular (Potential). excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity 0 ATCATCATTGGGAAGTTCACA 0.602 OREG0021809 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 38 --- --- --- --- PASS KRT6B 3854 broad.mit.edu 37 12 52841594 52841594 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:52841594G>T uc001sak.2 - 7 1440 c.1392C>A c.(1390-1392)ACC>ACA p.T464T NM_005555 NP_005546 P04259 K2C6B_HUMAN keratin 6B 464 Rod.|Coil 2. ectoderm development keratin filament structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.083) GCTTGCGGTAGGTGGCGATCT 0.597 72 111 --- --- --- --- PASS SP1 6667 broad.mit.edu 37 12 53804855 53804855 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:53804855C>A uc001scw.2 + 6 2286 c.2189C>A c.(2188-2190)GCA>GAA p.A730E SP1_uc010sog.1_Missense_Mutation_p.A723E NM_138473 NP_612482 P08047 SP1_HUMAN Sp1 transcription factor isoform a 730 Domain D.|VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(357;0.00527) GACAGTGGGGCAGGTTCAGAA 0.557 4 203 --- --- --- --- PASS OR6C75 390323 broad.mit.edu 37 12 55759232 55759232 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:55759232T>C uc010spk.1 + 1 338 c.338T>C c.(337-339)CTG>CCG p.L113P NM_001005497 NP_001005497 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, 113 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 TTTTACCTTCTGGCTGCCATG 0.448 31 121 --- --- --- --- PASS MDM1 56890 broad.mit.edu 37 12 68707531 68707531 + Nonsense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:68707531G>C uc001stz.2 - 10 1638 c.1502C>G c.(1501-1503)TCA>TGA p.S501* MDM1_uc010stc.1_Nonsense_Mutation_p.S466*|MDM1_uc009zqv.1_Nonsense_Mutation_p.S221* NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 501 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) AGAAGAATCTGACCTATAAAT 0.373 43 66 --- --- --- --- PASS TRHDE 29953 broad.mit.edu 37 12 72956688 72956688 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:72956688C>G uc001sxa.2 + 9 1805 c.1775C>G c.(1774-1776)ACA>AGA p.T592R NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 592 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GATCAGTGGACACTCCAGATG 0.313 94 130 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99898341 99898341 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:99898341C>G uc001tge.1 - 10 1768 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q ANKS1B_uc001tgf.1_Missense_Mutation_p.E31Q|ANKS1B_uc009ztt.1_Missense_Mutation_p.E417Q NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 451 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGAAAGTTCTCATTTTCTGAA 0.373 32 30 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120622646 120622646 + Missense_Mutation SNP A C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:120622646A>C uc001txo.2 - 3 179 c.166T>G c.(166-168)TTG>GTG p.L56V NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 56 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGCAGAGTCAAGCAGAACAAT 0.423 8 140 --- --- --- --- PASS CHFR 55743 broad.mit.edu 37 12 133435727 133435727 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr12:133435727C>A uc001ulf.2 - 8 958 c.874G>T c.(874-876)GCT>TCT p.A292S CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.A280S|CHFR_uc010tbs.1_Missense_Mutation_p.A292S|CHFR_uc001uld.2_Missense_Mutation_p.A251S|CHFR_uc010tbt.1_Missense_Mutation_p.A200S NM_001161344 NP_001154816 Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains 292 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding skin(1) 1 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) GGCTTCCCAGCCGCTGCTCTG 0.592 39 40 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26434350 26434350 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:26434350G>T uc001uqk.2 + 31 3116 c.2974G>T c.(2974-2976)GGT>TGT p.G992C ATP8A2_uc010tdi.1_Missense_Mutation_p.G927C|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G542C NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 952 Extracellular (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GTTGACAAGTGGTCATGCTAC 0.358 10 96 --- --- --- --- PASS FRY 10129 broad.mit.edu 37 13 32711022 32711022 + Silent SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:32711022G>T uc001utx.2 + 11 1588 c.1092G>T c.(1090-1092)CTG>CTT p.L364L FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGTACCCCCTGGTGACCTGTT 0.458 15 100 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986903 61986903 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:61986903T>C uc001vid.3 - 2 1693 c.1329A>G c.(1327-1329)GAA>GAG p.E443E PCDH20_uc010thj.1_Silent_p.E443E NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 416 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CGGGTTCCAGTTCTTTCAGAT 0.423 8 99 --- --- --- --- PASS PCDH20 64881 broad.mit.edu 37 13 61986932 61986932 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:61986932C>A uc001vid.3 - 2 1664 c.1300G>T c.(1300-1302)GAG>TAG p.E434* PCDH20_uc010thj.1_Nonsense_Mutation_p.E434* NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 407 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCATCTATCTCGTTTGCTATG 0.418 21 102 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75936724 75936724 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:75936724C>T uc001vjl.1 - 2 865 c.518G>A c.(517-519)AGC>AAC p.S173N TBC1D4_uc010aer.2_Missense_Mutation_p.S173N|TBC1D4_uc010aes.2_Missense_Mutation_p.S173N NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 173 PID 1. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TTGCCTTATGCTGCTAATAAC 0.393 4 293 --- --- --- --- PASS SLC10A2 6555 broad.mit.edu 37 13 103718330 103718330 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:103718330A>G uc001vpy.3 - 1 867 c.270T>C c.(268-270)TTT>TTC p.F90F NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 90 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGAGGATGTCAAAGGCCACCG 0.542 15 127 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110804799 110804799 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr13:110804799A>T uc001vqw.3 - 51 4932 c.4810T>A c.(4810-4812)TGC>AGC p.C1604S COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1604 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TCCTCCAGGCAGGAGCCGGGG 0.597 11 38 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20296181 20296181 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:20296181A>G uc010tkv.1 + 1 574 c.574A>G c.(574-576)ACA>GCA p.T192A NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 192 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCACCGACACATTTGTGGT 0.537 26 307 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404520 20404520 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:20404520G>T uc001vwj.1 + 1 695 c.695G>T c.(694-696)GGG>GTG p.G232V NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TCCTCCAGTGGGTCATCTAAG 0.433 30 210 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23894206 23894206 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:23894206G>A uc001wjx.2 - 22 2557 c.2451C>T c.(2449-2451)AAC>AAT p.N817N NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 817 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) AGGCCCGAATGTTCCACTGGA 0.542 34 107 --- --- --- --- PASS G2E3 55632 broad.mit.edu 37 14 31058674 31058674 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:31058674A>G uc001wqk.2 + 4 375 c.221A>G c.(220-222)AAT>AGT p.N74S G2E3_uc010tpe.1_Missense_Mutation_p.N28S|G2E3_uc010tpf.1_Missense_Mutation_p.N28S NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 74 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AAGGAAGTGAATAGAGCTTCT 0.308 42 172 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360885 42360885 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:42360885C>A uc001wvm.2 + 4 3016 c.1818C>A c.(1816-1818)ACC>ACA p.T606T LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 606 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GTAAAGCTACCAGTGACAATG 0.493 HNSCC(30;0.082) 12 55 --- --- --- --- PASS FANCM 57697 broad.mit.edu 37 14 45636188 45636188 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:45636188A>G uc001wwd.3 + 11 1923 c.1824A>G c.(1822-1824)ATA>ATG p.I608M FANCM_uc001wwc.2_Missense_Mutation_p.I608M|FANCM_uc010anf.2_Missense_Mutation_p.I582M|FANCM_uc001wwe.3_Missense_Mutation_p.I144M NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 608 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 AAAGAAGTATATATAAAGCTA 0.289 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 3 243 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58820393 58820393 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:58820393A>G uc001xdp.2 + 17 1927 c.1673A>G c.(1672-1674)AAA>AGA p.K558R ARID4A_uc001xdo.2_Missense_Mutation_p.K558R|ARID4A_uc001xdq.2_Missense_Mutation_p.K558R|ARID4A_uc010apg.1_Missense_Mutation_p.K236R NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 558 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 ACTGAAAGCAAATGTGACTCT 0.363 23 83 --- --- --- --- PASS KIAA0586 9786 broad.mit.edu 37 14 58915141 58915141 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:58915141C>T uc001xdv.3 + 7 1164 c.891C>T c.(889-891)TCC>TCT p.S297S KIAA0586_uc010trr.1_Silent_p.S338S|KIAA0586_uc001xdt.3_Silent_p.S253S|KIAA0586_uc001xdu.3_Silent_p.S282S|KIAA0586_uc010trs.1_Silent_p.S212S|KIAA0586_uc010trt.1_Silent_p.S157S|KIAA0586_uc010tru.1_Silent_p.S157S NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 297 ovary(1) 1 AAAAGTATTCCGTAAAACCAG 0.353 37 96 --- --- --- --- PASS DDX24 57062 broad.mit.edu 37 14 94545633 94545633 + Silent SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:94545633T>A uc001ycj.2 - 2 555 c.456A>T c.(454-456)CCA>CCT p.P152P DDX24_uc010twq.1_Silent_p.P109P|DDX24_uc010twr.1_Intron|IFI27L1_uc001ycl.2_5'Flank|IFI27L1_uc001yck.2_5'Flank NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 152 RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TCTTCTTTTTTGGAGCAGTTT 0.478 34 163 --- --- --- --- PASS SERPINA4 5267 broad.mit.edu 37 14 95033443 95033443 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:95033443C>A uc001ydk.2 + 3 852 c.786C>A c.(784-786)CCC>CCA p.P262P SERPINA4_uc010avd.2_Silent_p.P299P|SERPINA4_uc001ydl.2_Silent_p.P262P NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 262 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) GATACTTGCCCTGCTCGGTGC 0.493 12 78 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106110201 106110201 + RNA SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:106110201C>T uc010tyt.1 - 3642 c.61050G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA Parts of antibodies, mostly variable regions. 0 CCACCACGCACGTGACCTCAG 0.607 28 64 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106174934 106174934 + RNA SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:106174934G>A uc010tyt.1 - 3631 c.59400C>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron Parts of antibodies, mostly variable regions. 0 GGCAGGCGATGACCACGTTCC 0.647 4 79 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106586173 106586173 + RNA SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr14:106586173C>A uc010tyt.1 - 1286 c.28057G>T uc001ysv.2_RNA Parts of antibodies, mostly variable regions. 0 CCCCGGCTCTCAGGCTGTTCA 0.522 51 128 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369097 22369097 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:22369097A>G uc010tzu.1 + 1 522 c.522A>G c.(520-522)TTA>TTG p.L174L LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCAATGAGTTAGACAGTTACT 0.502 31 486 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22868847 22868847 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:22868847C>T uc001yur.3 + 20 2849 c.2719C>T c.(2719-2721)CAC>TAC p.H907Y TUBGCP5_uc001yuq.2_Missense_Mutation_p.H907Y NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 907 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CAAGATTCTACACAGTACAGG 0.403 31 74 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34032171 34032171 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:34032171G>A uc001zhi.2 + 51 7865 c.7795G>A c.(7795-7797)GAC>AAC p.D2599N RYR3_uc010bar.2_Missense_Mutation_p.D2599N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2599 3.|Cytoplasmic (By similarity).|4 X approximate repeats. 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) TGGCAACTTTGACCCAAAACC 0.458 14 27 --- --- --- --- PASS ACTC1 70 broad.mit.edu 37 15 35083437 35083437 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:35083437C>A uc001ziu.1 - 6 1111 c.868G>T c.(868-870)GAT>TAT p.D290Y uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 290 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTGCGGATATCAATGTCACAC 0.393 34 276 --- --- --- --- PASS TUBGCP4 27229 broad.mit.edu 37 15 43690255 43690255 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:43690255A>G uc001zro.2 + 13 1539 c.1299A>G c.(1297-1299)AGA>AGG p.R433R TUBGCP4_uc001zrn.2_Silent_p.R432R|TUBGCP4_uc010bdh.2_RNA NM_014444 NP_055259 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 433 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton ovary(3) 3 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) CTCAGGCAAGAGAAGGGCCTT 0.443 87 142 --- --- --- --- PASS STRC 161497 broad.mit.edu 37 15 43896852 43896852 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:43896852G>C uc001zsf.2 - 20 4201 c.4123C>G c.(4123-4125)CTT>GTT p.L1375V STRC_uc010bdl.2_Missense_Mutation_p.L602V|STRC_uc001zse.2_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 1375 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) CCATACCCAAGAACAGACTCC 0.507 4 108 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 72020962 72020962 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:72020962G>T uc002atb.1 + 8 1511 c.1432G>T c.(1432-1434)GGA>TGA p.G478* THSD4_uc002atd.1_Nonsense_Mutation_p.G152*|THSD4_uc010ukg.1_Nonsense_Mutation_p.G118*|THSD4_uc002ate.2_Nonsense_Mutation_p.G118* NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 478 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 ATACGAGGGCGGAGGGACCAT 0.502 29 223 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 72020963 72020963 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:72020963G>A uc002atb.1 + 8 1512 c.1433G>A c.(1432-1434)GGA>GAA p.G478E THSD4_uc002atd.1_Missense_Mutation_p.G152E|THSD4_uc010ukg.1_Missense_Mutation_p.G118E|THSD4_uc002ate.2_Missense_Mutation_p.G118E NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 478 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TACGAGGGCGGAGGGACCATG 0.507 31 222 --- --- --- --- PASS CSK 1445 broad.mit.edu 37 15 75091700 75091700 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:75091700C>T uc010bkb.1 + 6 513 c.330C>T c.(328-330)ACC>ACT p.T110T CSK_uc002ays.2_Silent_p.T110T|CSK_uc010bkc.1_5'UTR NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 110 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 GGGAGAGCACCAACTACCCCG 0.627 15 65 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89400049 89400049 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:89400049C>A uc010upo.1 + 12 4607 c.4233C>A c.(4231-4233)AGC>AGA p.S1411R ACAN_uc010upp.1_Missense_Mutation_p.S1411R|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1411 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGGAGATCAGCGGGCTTCCTT 0.537 50 112 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90334210 90334210 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:90334210C>A uc002bop.3 - 19 2935 c.2643G>T c.(2641-2643)CAG>CAT p.Q881H NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 881 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCCAGTTGCTCTGGACAAAGT 0.582 41 80 --- --- --- --- PASS RGMA 56963 broad.mit.edu 37 15 93588839 93588839 + Nonsense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:93588839T>A uc002bss.1 - 4 1014 c.742A>T c.(742-744)AAG>TAG p.K248* RGMA_uc002bsq.1_Nonsense_Mutation_p.K232*|RGMA_uc010boi.1_Nonsense_Mutation_p.K139*|RGMA_uc002bsr.1_Nonsense_Mutation_p.K139*|RGMA_uc010urc.1_Nonsense_Mutation_p.K256* NM_020211 NP_064596 Q96B86 RGMA_HUMAN RGM domain family, member A precursor 248 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane 0 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) CCACCGTTCTTAGAGCCATCC 0.582 6 96 --- --- --- --- PASS ARRDC4 91947 broad.mit.edu 37 15 98509152 98509152 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:98509152A>T uc010bom.2 + 3 561 c.402A>T c.(400-402)AAA>AAT p.K134N ARRDC4_uc002bui.3_Missense_Mutation_p.K47N NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN arrestin domain containing 4 134 signal transduction 0 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) TTACTGGGAAATATGGAAGCA 0.418 11 173 --- --- --- --- PASS FAM169B 283777 broad.mit.edu 37 15 98984300 98984300 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr15:98984300C>T uc002buk.1 - 6 709 c.459G>A c.(457-459)AAG>AAA p.K153K NM_182562 NP_872368 Q8N8A8 F169B_HUMAN hypothetical protein LOC283777 153 0 ATCACCATACCTTGCTGCCGT 0.557 21 48 --- --- --- --- PASS IFT140 9742 broad.mit.edu 37 16 1652378 1652378 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:1652378C>A uc002cmb.2 - 4 724 c.362G>T c.(361-363)GGG>GTG p.G121V NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 121 WD 3. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) CACCCTGTCCCCAGACAGCAG 0.542 12 52 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2153483 2153483 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:2153483C>A uc002cos.1 - 23 8784 c.8575G>T c.(8575-8577)GCC>TCC p.A2859S PKD1_uc002cot.1_Missense_Mutation_p.A2859S|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 2859 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GGGATCTGGGCGCCGGCCTGT 0.627 4 69 --- --- --- --- PASS RAB26 25837 broad.mit.edu 37 16 2202841 2202841 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:2202841C>A uc002cou.2 + 6 623 c.489C>A c.(487-489)CAC>CAA p.H163Q RAB26_uc010bsf.2_Missense_Mutation_p.H97Q|TRAF7_uc002cow.2_5'Flank NM_014353 NP_055168 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 163 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding 0 CCGAGATCCACGAGTACGCCC 0.682 4 21 --- --- --- --- PASS ABCA3 21 broad.mit.edu 37 16 2347370 2347370 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:2347370C>A uc002cpy.1 - 17 2935 c.2223G>T c.(2221-2223)CTG>CTT p.L741L ABCA3_uc010bsk.1_Silent_p.L683L|ABCA3_uc010bsl.1_Silent_p.L741L NM_001089 NP_001080 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A member 3 741 ABC transporter 1. response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 16 Ovarian(90;0.17) CGCAGCACTGCAGCTCCCCCT 0.642 29 58 --- --- --- --- PASS ABAT 18 broad.mit.edu 37 16 8862807 8862807 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:8862807G>T uc002czc.3 + 11 959 c.793G>T c.(793-795)GAG>TAG p.E265* ABAT_uc002czd.3_Nonsense_Mutation_p.E265*|ABAT_uc010buh.2_Nonsense_Mutation_p.E207*|ABAT_uc010bui.2_Nonsense_Mutation_p.E265* NM_020686 NP_065737 P80404 GABT_HUMAN 4-aminobutyrate aminotransferase precursor 265 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding upper_aerodigestive_tract(1) 1 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) GAACCAACAGGAGGAGGCCCG 0.557 36 195 --- --- --- --- PASS GDE1 51573 broad.mit.edu 37 16 19519024 19519024 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:19519024T>C uc002dgh.2 - 4 785 c.621A>G c.(619-621)CCA>CCG p.P207P GDE1_uc002dgi.2_Silent_p.P97P NM_016641 NP_057725 Q9NZC3 GDE1_HUMAN glycerophosphodiester phosphodiesterase 1 207 Lumenal (Potential).|GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 AGATAACTTCTGGCAAGAAAG 0.368 44 138 --- --- --- --- PASS C16orf62 57020 broad.mit.edu 37 16 19580760 19580760 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:19580760G>C uc002dgn.1 + 3 144 c.132G>C c.(130-132)AAG>AAC p.K44N C16orf62_uc002dgo.1_Missense_Mutation_p.K44N|C16orf62_uc010vas.1_5'UTR|C16orf62_uc002dgm.1_Missense_Mutation_p.K44N NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 44 integral to membrane ovary(1) 1 CAGAGTCAAAGACAAAGAAAG 0.532 16 48 --- --- --- --- PASS CD19 930 broad.mit.edu 37 16 28948961 28948961 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:28948961C>T uc002drs.2 + 11 1451 c.1389C>T c.(1387-1389)AAC>AAT p.N463N uc010vct.1_Intron|CD19_uc010byo.1_Silent_p.N463N NM_001770 NP_001761 P15391 CD19_HUMAN CD19 antigen precursor 463 Cytoplasmic (Potential). cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity ovary(2)|central_nervous_system(1) 3 CTTATGAGAACGAGGATGAAG 0.587 16 94 --- --- --- --- PASS SRCAP 10847 broad.mit.edu 37 16 30732749 30732749 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:30732749G>A uc002dze.1 + 21 3878 c.3493G>A c.(3493-3495)GCA>ACA p.A1165T SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.A1022T|SRCAP_uc010bzz.1_Missense_Mutation_p.A735T NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1165 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) TCCGACTCCTGCACCACAGCG 0.602 20 95 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30980721 30980721 + Missense_Mutation SNP C T T rs150435865 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:30980721C>T uc002ead.1 + 11 3552 c.2866C>T c.(2866-2868)CGC>TGC p.R956C NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 956 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 GGGCAAGCACCGCAAGTCCTT 0.662 13 33 --- --- --- --- PASS MYST1 84148 broad.mit.edu 37 16 31131695 31131695 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:31131695C>T uc002eay.2 + 3 340 c.322C>T c.(322-324)CGG>TGG p.R108W MYST1_uc002eax.2_Missense_Mutation_p.R108W NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 108 Chromo. histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 AGACAAGAACCGGCTGGCGCT 0.577 26 84 --- --- --- --- PASS N4BP1 9683 broad.mit.edu 37 16 48596134 48596134 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:48596134G>A uc002efp.2 - 2 657 c.420C>T c.(418-420)CTC>CTT p.L140L NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 140 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) TATTTTCAAAGAGCTTTACAA 0.433 27 115 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T C C rs6416709 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:71054178T>C uc002ezr.2 - 22 3357 c.3229A>G c.(3229-3231)ATA>GTA p.I1077V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 1077 ovary(1)|skin(1) 2 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418 4 56 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75263896 75263896 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr16:75263896T>A uc002fdv.2 - 7 2249 c.2126A>T c.(2125-2127)CAG>CTG p.Q709L BCAR1_uc002fdt.2_Missense_Mutation_p.Q162L|BCAR1_uc002fdu.2_Missense_Mutation_p.Q499L|BCAR1_uc010cgu.2_Missense_Mutation_p.Q698L|BCAR1_uc010vna.1_Missense_Mutation_p.Q707L|BCAR1_uc010vnb.1_Missense_Mutation_p.Q755L|BCAR1_uc002fdw.2_Missense_Mutation_p.Q709L|BCAR1_uc010vnc.1_Missense_Mutation_p.Q561L|BCAR1_uc010vnd.1_Missense_Mutation_p.Q727L|BCAR1_uc002fdx.2_Missense_Mutation_p.Q727L NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 709 actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) TGACACCTCCTGTTCCAGTCG 0.672 57 52 --- --- --- --- PASS TMEM102 284114 broad.mit.edu 37 17 7339208 7339208 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:7339208G>T uc002ggx.1 + 2 291 c.18G>T c.(16-18)TGG>TGT p.W6C FGF11_uc010vtw.1_Intron|TMEM102_uc002ggy.1_Missense_Mutation_p.W6C NM_178518 NP_848613 Q8N9M5 TM102_HUMAN transmembrane protein 102 6 Extracellular (Potential). regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding 0 Prostate(122;0.173) CCGCAGTCTGGGGGAGTGCCC 0.557 12 52 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C A A rs55863639 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAACTGACCGTGCAAGTCA 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 46 77 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32956213 32956213 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:32956213C>T uc002hif.2 + 5 1386 c.1058C>T c.(1057-1059)CCC>CTC p.P353L NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 353 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) GCCATCCTGCCCCTGGCCATG 0.577 10 30 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61621687 61621687 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:61621687A>T uc002jay.2 + 12 2499 c.2419A>T c.(2419-2421)AGC>TGC p.S807C KCNH6_uc010wpl.1_Missense_Mutation_p.S648C|KCNH6_uc010wpm.1_Missense_Mutation_p.S771C|KCNH6_uc002jaz.1_Missense_Mutation_p.S718C NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 807 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) CCCAAGGCACAGCCCCCAAAG 0.607 34 44 --- --- --- --- PASS GH2 2689 broad.mit.edu 37 17 61958285 61958285 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:61958285C>A uc002jco.1 - 4 365 c.303G>T c.(301-303)CTG>CTT p.L101L GH2_uc002jcj.2_Silent_p.L101L|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.L101L|GH2_uc002jcm.1_Silent_p.L101L|GH2_uc002jcn.1_Silent_p.L86L NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 101 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 AGATGCGGAGCAGCTCTAGGT 0.647 47 59 --- --- --- --- PASS PRKAR1A 5573 broad.mit.edu 37 17 66519945 66519945 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr17:66519945A>T uc002jhg.2 + 4 608 c.428A>T c.(427-429)GAT>GTT p.D143V PRKAR1A_uc002jhh.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhi.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhj.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhk.2_Missense_Mutation_p.D19V|PRKAR1A_uc002jhl.2_Missense_Mutation_p.D143V|PRKAR1A_uc002jhm.2_Missense_Mutation_p.D143V NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 143 cAMP 1. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) CATCTTGATGATAATGAGAGA 0.373 T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 37 98 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5419732 5419732 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr18:5419732G>A uc002kmt.1 - 12 1570 c.1484C>T c.(1483-1485)TCG>TTG p.S495L EPB41L3_uc010wzh.1_Missense_Mutation_p.S513L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S513L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S404L|EPB41L3_uc002kms.1_5'UTR|EPB41L3_uc010wze.1_5'UTR|EPB41L3_uc010wzf.1_5'UTR|EPB41L3_uc010wzg.1_5'UTR|EPB41L3_uc010dkr.2_Missense_Mutation_p.S74L NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 495 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CCGGATGGCCGAGATGGGCGT 0.363 30 103 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50278670 50278670 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr18:50278670G>T uc002lfe.1 + 2 925 c.338G>T c.(337-339)GGA>GTA p.G113V DCC_uc010xdr.1_5'UTR NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 113 Extracellular (Potential).|Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCAGATGAGGGACTTTACCAA 0.413 22 86 --- --- --- --- PASS NARS 4677 broad.mit.edu 37 18 55276599 55276599 + Missense_Mutation SNP T G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr18:55276599T>G uc002lgs.2 - 7 797 c.569A>C c.(568-570)AAG>ACG p.K190T NARS_uc002lgt.2_Missense_Mutation_p.K189T|NARS_uc010xea.1_Intron|NARS_uc010xeb.1_RNA|NARS_uc010xec.1_Missense_Mutation_p.K190T|NARS_uc010xed.1_Missense_Mutation_p.K157T NM_004539 NP_004530 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 190 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding 0 Colorectal(73;0.227) L-Asparagine(DB00174) CTGCTTGCCCTTTGGGGTAAG 0.398 24 152 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63547658 63547658 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr18:63547658C>T uc002ljz.2 + 12 2211 c.1886C>T c.(1885-1887)ACT>ATT p.T629I CDH7_uc002lkb.2_Missense_Mutation_p.T629I NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 629 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) CTTATCGTCACTATGAGAAGA 0.443 6 86 --- --- --- --- PASS OR4F17 81099 broad.mit.edu 37 19 110698 110698 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:110698T>C uc002loc.1 + 1 20 c.20T>C c.(19-21)TTT>TCT p.F7S OR4F17_uc002lob.1_Missense_Mutation_p.F7S NM_001005240 NP_001005240 Q8NGA8 O4F17_HUMAN olfactory receptor, family 4, subfamily F, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) 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) GAATTCATTTTTCTGGGTCTC 0.393 15 527 --- --- --- --- PASS ATCAY 85300 broad.mit.edu 37 19 3907875 3907875 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:3907875C>A uc002lyy.3 + 5 932 c.502C>A c.(502-504)CTG>ATG p.L168M ATCAY_uc010xhz.1_Missense_Mutation_p.L174M|ATCAY_uc010dts.2_5'Flank NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 168 transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) CCGTATAGACCTGCACATGAT 0.672 11 18 --- --- --- --- PASS ACSBG2 81616 broad.mit.edu 37 19 6151739 6151739 + Nonsense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:6151739G>T uc002mef.1 + 4 546 c.319G>T c.(319-321)GGA>TGA p.G107* ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Nonsense_Mutation_p.G107*|ACSBG2_uc002meh.1_Nonsense_Mutation_p.G107*|ACSBG2_uc002mei.1_Nonsense_Mutation_p.G57*|ACSBG2_uc010xiz.1_Nonsense_Mutation_p.G107* NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 107 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 GCGTTTCCACGGAGTTGGTAT 0.453 2 14 --- --- --- --- PASS MLLT1 4298 broad.mit.edu 37 19 6230582 6230582 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:6230582C>A uc002mek.2 - 4 583 c.419G>T c.(418-420)GGG>GTG p.G140V NM_005934 NP_005925 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia 140 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding skin(1) 1 CACACTCACCCCGCCGGCCCG 0.697 T MLL AL 17 26 --- --- --- --- PASS ZNF358 140467 broad.mit.edu 37 19 7585294 7585294 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:7585294G>T uc002mgn.2 + 2 1336 c.1166G>T c.(1165-1167)AGC>ATC p.S389I MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 389 C2H2-type 9. embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CAGGCCTCCAGCCTCACCAAG 0.498 3 8 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10476245 10476245 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:10476245C>A uc002moc.3 - 7 1337 c.959G>T c.(958-960)GGC>GTC p.G320V TYK2_uc010dxe.2_Missense_Mutation_p.G135V|TYK2_uc002mod.2_Missense_Mutation_p.G320V NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 320 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCCACCAGTGCCTGTCACCAG 0.672 25 63 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30936440 30936440 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:30936440C>A uc002nsu.1 + 2 2109 c.1971C>A c.(1969-1971)CGC>CGA p.R657R ZNF536_uc010edd.1_Silent_p.R657R NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AGCGGGACCGCAAGGGCGAGG 0.687 61 79 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31768908 31768908 + Silent SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:31768908G>A uc002nsy.3 - 2 1856 c.1791C>T c.(1789-1791)AGC>AGT p.S597S NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 597 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGGACGTCTGGCTGCTGGGTG 0.552 46 209 --- --- --- --- PASS PEPD 5184 broad.mit.edu 37 19 33878831 33878831 + Missense_Mutation SNP G A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:33878831G>A uc002nur.3 - 14 1444 c.1309C>T c.(1309-1311)CGC>TGC p.R437C PEPD_uc010xrr.1_Missense_Mutation_p.R396C|PEPD_uc010xrs.1_Missense_Mutation_p.R373C|PEPD_uc002nuq.3_Missense_Mutation_p.R116C NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 437 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) AGGACCTCGCGGTTAAGGAAG 0.657 3 6 --- --- --- --- PASS ZNF790 388536 broad.mit.edu 37 19 37314233 37314233 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:37314233T>C uc002oew.2 - 4 302 c.183A>G c.(181-183)AAA>AAG p.K61K uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TCCAGGGCTCTTTCCCTTTCT 0.458 19 74 --- --- --- --- PASS PLEKHG2 64857 broad.mit.edu 37 19 39914665 39914665 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:39914665C>T uc010xuz.1 + 19 3217 c.2892C>T c.(2890-2892)CTC>CTT p.L964L PLEKHG2_uc010xuy.1_Silent_p.L905L|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Silent_p.L742L NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 964 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCCTGCACCTCCAGGTGCCGG 0.557 31 107 --- --- --- --- PASS HNRNPUL1 11100 broad.mit.edu 37 19 41785042 41785042 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:41785042C>T uc002oqb.3 + 6 1136 c.847C>T c.(847-849)CGT>TGT p.R283C CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R183C|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R283C|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R183C|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R183C|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R183C|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R139C|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R183C NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 283 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 CCACGTGGTCCGTATCGGCTG 0.547 56 153 --- --- --- --- PASS CEACAM4 1089 broad.mit.edu 37 19 42132258 42132258 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:42132258C>A uc002orh.1 - 2 252 c.141G>T c.(139-141)GAG>GAT p.E47D CEACAM4_uc010xwd.1_Missense_Mutation_p.E47D NM_001817 NP_001808 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion 47 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction 0 CATCCTTTCCCTCTGCAGCAC 0.507 58 136 --- --- --- --- PASS CADM4 199731 broad.mit.edu 37 19 44127512 44127512 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:44127512T>C uc002oxc.1 - 9 1186 c.1137A>G c.(1135-1137)GGA>GGG p.G379G NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 379 Cytoplasmic (Potential). cell adhesion integral to membrane 0 Prostate(69;0.0199) TCCTCTTGTGTCCGTCGCTGC 0.607 63 234 --- --- --- --- PASS KCNN4 3783 broad.mit.edu 37 19 44280704 44280704 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:44280704T>C uc002oxl.2 - 2 640 c.244A>G c.(244-246)AAA>GAA p.K82E KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_RNA NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 82 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TGGACCTCTTTGGCATGAAAG 0.602 18 70 --- --- --- --- PASS ZNF229 7772 broad.mit.edu 37 19 44934632 44934632 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:44934632G>C uc002oze.1 - 6 758 c.324C>G c.(322-324)ATC>ATG p.I108M ZNF229_uc010ejk.1_Translation_Start_Site|ZNF229_uc010ejl.1_Missense_Mutation_p.I102M NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 108 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) CCTCTTCCCAGATTTTGCATG 0.428 37 131 --- --- --- --- PASS RSPH6A 81492 broad.mit.edu 37 19 46313864 46313864 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:46313864C>A uc002pdm.2 - 2 1028 c.885G>T c.(883-885)GAG>GAT p.E295D RSPH6A_uc002pdl.2_Missense_Mutation_p.E31D NM_030785 NP_110412 Q9H0K4 RSH6A_HUMAN radial spokehead-like 1 295 intracellular ovary(1)|central_nervous_system(1) 2 CACTCACCACCTCCTCCTCCA 0.617 99 244 --- --- --- --- PASS ALDH16A1 126133 broad.mit.edu 37 19 49967959 49967959 + Missense_Mutation SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:49967959A>G uc002pnt.2 + 12 1624 c.1508A>G c.(1507-1509)TAT>TGT p.Y503C ALDH16A1_uc010yar.1_Missense_Mutation_p.Y452C|ALDH16A1_uc010yas.1_Missense_Mutation_p.Y338C|ALDH16A1_uc010yat.1_Missense_Mutation_p.Y340C NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 503 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) AACCTGAACTATGACACCTTT 0.622 114 294 --- --- --- --- PASS CPT1C 126129 broad.mit.edu 37 19 50208306 50208306 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:50208306G>T uc002ppj.2 + 8 1019 c.814G>T c.(814-816)GCT>TCT p.A272S CPT1C_uc002ppl.3_Missense_Mutation_p.A238S|CPT1C_uc002ppi.2_Missense_Mutation_p.A189S|CPT1C_uc002ppk.2_Missense_Mutation_p.A261S|CPT1C_uc010eng.2_Missense_Mutation_p.A272S|CPT1C_uc010enh.2_Missense_Mutation_p.A272S|CPT1C_uc010ybc.1_Missense_Mutation_p.A110S|CPT1C_uc010eni.1_5'Flank NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 272 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGCAGCTCGCGCTGGGAATGC 0.647 36 106 --- --- --- --- PASS AP2A1 160 broad.mit.edu 37 19 50303388 50303388 + Missense_Mutation SNP C G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:50303388C>G uc002ppn.2 + 11 1647 c.1436C>G c.(1435-1437)GCC>GGC p.A479G AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Missense_Mutation_p.A479G|AP2A1_uc002ppp.1_5'Flank NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 479 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) CAGGGCTATGCCGCCAAGACC 0.612 7 22 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53385189 53385189 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:53385189C>T uc002qag.2 - 4 381 c.190G>A c.(190-192)GGC>AGC p.G64S ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.G10S|ZNF320_uc002qai.2_Missense_Mutation_p.G64S NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 64 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) TCTGTATTGCCTTGCCCTGTT 0.373 101 249 --- --- --- --- PASS PRKCG 5582 broad.mit.edu 37 19 54401253 54401253 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:54401253C>A uc002qcq.1 + 10 1262 c.980C>A c.(979-981)CCT>CAT p.P327H PRKCG_uc010yef.1_Missense_Mutation_p.L298I|PRKCG_uc010yeg.1_Missense_Mutation_p.P327H|PRKCG_uc010yeh.1_Missense_Mutation_p.P214H NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 327 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) atcccctccccttccccTAGT 0.468 41 92 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54783386 54783386 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:54783386C>A uc002qfb.2 - 5 738 c.472G>T c.(472-474)GAA>TAA p.E158* LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Nonsense_Mutation_p.E158*|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Nonsense_Mutation_p.E158*|LILRB2_uc010yet.1_Nonsense_Mutation_p.E42*|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 158 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTTCTCCTTCCTTACACAGA 0.622 41 89 --- --- --- --- PASS SLC27A5 10998 broad.mit.edu 37 19 59010244 59010244 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:59010244C>T uc002qtc.2 - 9 1914 c.1804G>A c.(1804-1806)GCC>ACC p.A602T SLC27A5_uc002qtb.2_RNA NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 602 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TGGCCGGGGGCTAGCTGCACA 0.622 4 86 --- --- --- --- PASS SEL1L2 80343 broad.mit.edu 37 20 13868588 13868588 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:13868588C>T uc010gcf.2 - 7 745 c.663G>A c.(661-663)TTG>TTA p.L221L SEL1L2_uc002woq.3_Silent_p.L82L|SEL1L2_uc010zrl.1_Silent_p.L221L|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 221 Sel1-like 4.|Extracellular (Potential). integral to membrane binding ovary(2) 2 GTTTACAAACCAAAATCATCT 0.358 32 124 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17446118 17446118 + Silent SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:17446118T>A uc002wpm.2 + 11 1670 c.1350T>A c.(1348-1350)GGT>GGA p.G450G PCSK2_uc002wpl.2_Silent_p.G431G|PCSK2_uc010zrm.1_Silent_p.G415G|PCSK2_uc002wpn.2_Silent_p.G104G NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 450 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTGATGCAGGTGCCATGGTGA 0.567 13 60 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25481510 25481510 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:25481510T>A uc002wux.1 - 8 1072 c.998A>T c.(997-999)CAG>CTG p.Q333L NINL_uc010gdn.1_Missense_Mutation_p.Q333L|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.Q349L NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 333 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 AATCCCCTCCTGGGTCCACAT 0.597 13 66 --- --- --- --- PASS MYLK2 85366 broad.mit.edu 37 20 30419933 30419933 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:30419933C>T uc002wwq.2 + 12 1806 c.1704C>T c.(1702-1704)CGC>CGT p.R568R MYLK2_uc002wws.2_Silent_p.R185R|MYLK2_uc010gdw.1_RNA NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 568 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TGAAGAGGCGCTGGAAGGTAC 0.587 8 17 --- --- --- --- PASS PLAGL2 5326 broad.mit.edu 37 20 30785030 30785030 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:30785030T>C uc002wxn.2 - 3 933 c.716A>G c.(715-717)AAG>AGG p.K239R NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 239 C2H2-type 6. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GTGGCTCTTCTTGACATGACG 0.582 19 31 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 41101061 41101061 + Missense_Mutation SNP T A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:41101061T>A uc002xkg.2 - 8 1479 c.1295A>T c.(1294-1296)CAG>CTG p.Q432L PTPRT_uc010ggj.2_Missense_Mutation_p.Q432L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 432 Extracellular (Potential).|Fibronectin type-III 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTACTGCTGCTGGTTGAACAC 0.627 57 81 --- --- --- --- PASS AURKA 6790 broad.mit.edu 37 20 54963223 54963223 + Nonsense_Mutation SNP C A A rs6069717 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:54963223C>A uc002xxd.1 - 4 597 c.31G>T c.(31-33)GGA>TGA p.G11* AURKA_uc002xxe.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxf.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxg.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxh.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxi.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxj.1_Nonsense_Mutation_p.G11*|AURKA_uc002xxk.1_Nonsense_Mutation_p.G11*|AURKA_uc010zzd.1_RNA NM_198433 NP_940835 O14965 AURKA_HUMAN serine/threonine protein kinase 6 11 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1) 8 Colorectal(105;0.202) TTAACAGGTCCTGAAATGCAG 0.383 12 231 --- --- --- --- PASS OSBPL2 9885 broad.mit.edu 37 20 60835156 60835156 + Nonsense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:60835156C>T uc002yck.1 + 3 359 c.157C>T c.(157-159)CAA>TAA p.Q53* OSBPL2_uc002ycl.1_Nonsense_Mutation_p.Q41*|OSBPL2_uc011aah.1_Intron NM_144498 NP_653081 Q9H1P3 OSBL2_HUMAN oxysterol-binding protein-like protein 2 isoform 53 lipid transport lipid binding ovary(1)|central_nervous_system(1) 2 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GAGGCCCTCTCAAGAGAACGG 0.438 20 141 --- --- --- --- PASS ZGPAT 84619 broad.mit.edu 37 20 62340111 62340111 + Missense_Mutation SNP G C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr20:62340111G>C uc002ygk.2 + 2 357 c.179G>C c.(178-180)AGC>ACC p.S60T ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Missense_Mutation_p.S60T|ZGPAT_uc002ygj.2_Missense_Mutation_p.S60T|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Missense_Mutation_p.S60T|ZGPAT_uc002ygm.2_Missense_Mutation_p.S60T|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 60 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) GTCAGGAAGAGCAGCTTGTTG 0.657 20 111 --- --- --- --- PASS NRIP1 8204 broad.mit.edu 37 21 16337882 16337882 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:16337882C>A uc002yjx.2 - 4 3230 c.2632G>T c.(2632-2634)GTT>TTT p.V878F NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 878 Repression domain 3. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GCAGCATCAACAATGTTGTTT 0.363 62 220 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17242405 17242405 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:17242405A>T uc002yjy.1 + 21 2831 c.2614A>T c.(2614-2616)AGG>TGG p.R872W USP25_uc011aby.1_Missense_Mutation_p.R942W|USP25_uc002yjz.1_Missense_Mutation_p.R904W|USP25_uc010gla.1_Missense_Mutation_p.R267W NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 872 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) TCAGGATTATAGGAAATTCAG 0.308 44 160 --- --- --- --- PASS KRTAP13-4 284827 broad.mit.edu 37 21 31802905 31802905 + Silent SNP G T T rs150222104 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:31802905G>T uc011acw.1 + 1 312 c.312G>T c.(310-312)TCG>TCT p.S104S NM_181600 NP_853631 Q3LI77 KR134_HUMAN keratin associated protein 13-4 104 intermediate filament 0 GCTGCTACTCGCTGGGAAATG 0.532 9 27 --- --- --- --- PASS PWP2 5822 broad.mit.edu 37 21 45535237 45535237 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:45535237A>T uc002zeb.2 + 6 653 c.563A>T c.(562-564)AAG>ATG p.K188M NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog 188 WD 5. cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GGGGGACATAAGGATGCCATC 0.547 50 132 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47704633 47704633 + Missense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:47704633C>A uc002zir.1 - 1 604 c.568G>T c.(568-570)GCC>TCC p.A190S C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 190 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) GAGAAAGGGGCCAGGCCTCCA 0.413 36 69 --- --- --- --- PASS MCM3AP 8888 broad.mit.edu 37 21 47704634 47704634 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:47704634C>A uc002zir.1 - 1 603 c.567G>T c.(565-567)CTG>CTT p.L189L C21orf57_uc002zit.1_5'Flank|C21orf57_uc002ziu.1_5'Flank|C21orf57_uc002ziv.2_5'Flank|C21orf57_uc002ziw.2_5'Flank|C21orf57_uc002zix.2_5'Flank|C21orf57_uc010gqh.2_5'Flank|C21orf57_uc002ziy.2_5'Flank NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 189 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) AGAAAGGGGCCAGGCCTCCAG 0.413 36 68 --- --- --- --- PASS DIP2A 23181 broad.mit.edu 37 21 47970476 47970476 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr21:47970476G>T uc002zjo.2 + 23 2841 c.2658G>T c.(2656-2658)CAG>CAT p.Q886H DIP2A_uc011afy.1_Missense_Mutation_p.Q822H|DIP2A_uc011afz.1_Missense_Mutation_p.Q882H NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 886 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCATCCACCAGGTGGGCGTGT 0.582 5 19 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26692894 26692894 + Missense_Mutation SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr22:26692894T>C uc003acb.2 + 4 1166 c.1010T>C c.(1009-1011)ATC>ACC p.I337T SEZ6L_uc003acc.2_Missense_Mutation_p.I337T|SEZ6L_uc011akc.1_Missense_Mutation_p.I337T|SEZ6L_uc003acd.2_Missense_Mutation_p.I337T|SEZ6L_uc011akd.1_Missense_Mutation_p.I337T|SEZ6L_uc003ace.2_Missense_Mutation_p.I337T|SEZ6L_uc003acf.1_Missense_Mutation_p.I110T|SEZ6L_uc010gvc.1_Missense_Mutation_p.I110T NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 337 CUB 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CTGCTCTCCATCCGCGGGGTG 0.592 18 26 --- --- --- --- PASS TAB1 10454 broad.mit.edu 37 22 39824179 39824179 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr22:39824179C>T uc003axt.2 + 10 1347 c.1298C>T c.(1297-1299)ACC>ATC p.T433I TAB1_uc003axr.2_Missense_Mutation_p.T509I|TAB1_uc011aok.1_Missense_Mutation_p.T267I|TAB1_uc003axu.1_Missense_Mutation_p.T433I NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 433 activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 GCCACCCCCACCCTCACCAAG 0.642 11 54 --- --- --- --- PASS AMELX 265 broad.mit.edu 37 X 11316885 11316885 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:11316885C>T uc004cut.2 + 5 430 c.362C>T c.(361-363)CCG>CTG p.P121L 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.P135L|AMELX_uc004cuu.2_Missense_Mutation_p.P105L NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 121 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 AACCTCCCTCCGCCCGCCCAG 0.662 4 9 --- --- --- --- PASS PHEX 5251 broad.mit.edu 37 X 22208614 22208614 + Missense_Mutation SNP A T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:22208614A>T uc004dah.2 + 15 1843 c.1640A>T c.(1639-1641)CAG>CTG p.Q547L PHEX_uc011mjr.1_Missense_Mutation_p.Q547L|PHEX_uc011mjs.1_Missense_Mutation_p.Q450L NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 547 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 TCCACCAACCAGATCCGTGAG 0.423 31 70 --- --- --- --- PASS MAGEB16 139604 broad.mit.edu 37 X 35820595 35820595 + Silent SNP T C C TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:35820595T>C uc010ngt.1 + 2 561 c.282T>C c.(280-282)GAT>GAC p.D94D NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 94 lung(3)|ovary(2)|breast(1)|skin(1) 7 AAGAGGAAGATAGTCCAAGCT 0.488 4 9 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36156569 36156569 + Missense_Mutation SNP C G G rs138587803 TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:36156569C>G uc004ddk.1 + 10 1434 c.1248C>G c.(1246-1248)GAC>GAG p.D416E NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 416 integral to membrane central_nervous_system(1) 1 TTGACTTTGACGTGGAAATAC 0.294 17 55 --- --- --- --- PASS FAM47C 442444 broad.mit.edu 37 X 37028587 37028587 + Missense_Mutation SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:37028587C>T uc004ddl.1 + 1 2118 c.2104C>T c.(2104-2106)CTC>TTC p.L702F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 702 ovary(3) 3 AGTGTCCCGTCTCCACCCAGA 0.642 12 22 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39932785 39932785 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:39932785G>T uc004den.3 - 4 2106 c.1814C>A c.(1813-1815)CCT>CAT p.P605H BCOR_uc004dep.3_Missense_Mutation_p.P605H|BCOR_uc004deo.3_Missense_Mutation_p.P605H|BCOR_uc004dem.3_Missense_Mutation_p.P605H|BCOR_uc004deq.3_Missense_Mutation_p.P605H NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 605 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GTGCTTGGCAGGAGTGGCCGG 0.582 15 32 --- --- --- --- PASS ITGB1BP2 26548 broad.mit.edu 37 X 70524054 70524054 + Silent SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:70524054C>A uc004dzr.1 + 9 686 c.657C>A c.(655-657)CGC>CGA p.R219R BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Silent_p.R201R NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 219 CS. muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) CATCTTGCCGCCATGATTGGC 0.468 3 52 --- --- --- --- PASS MUM1L1 139221 broad.mit.edu 37 X 105449469 105449469 + Missense_Mutation SNP G T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:105449469G>T uc004emf.1 + 4 693 c.44G>T c.(43-45)TGG>TTG p.W15L MUM1L1_uc004emg.1_Missense_Mutation_p.W15L NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 15 ovary(2)|pancreas(1)|skin(1) 4 GACCAGTTGTGGCCAGCAAAA 0.378 3 7 --- --- --- --- PASS TRPC5 7224 broad.mit.edu 37 X 111095583 111095583 + Silent SNP A G G TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:111095583A>G uc004epl.1 - 5 2239 c.1320T>C c.(1318-1320)TTT>TTC p.F440F TRPC5_uc004epm.1_Silent_p.F440F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 440 Helical; (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 AGTTCATTGCAAAATCCATCA 0.423 35 58 --- --- --- --- PASS RPS4Y1 6192 broad.mit.edu 37 Y 2712180 2712180 + Silent SNP C T T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrY:2712180C>T uc004fqi.2 + 3 187 c.144C>T c.(142-144)CTC>CTT p.L48L NM_001008 NP_000999 P22090 RS4Y1_HUMAN ribosomal protein S4, Y-linked 1 Y isoform 48 S4 RNA-binding. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|polysome rRNA binding|structural constituent of ribosome 0 TCGTCTTCCTCAGGAATAGAC 0.448 62 147 --- --- --- --- PASS KDM5D 8284 broad.mit.edu 37 Y 21901521 21901521 + Nonsense_Mutation SNP C A A TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrY:21901521C>A uc004fug.2 - 6 838 c.550G>T c.(550-552)GAG>TAG p.E184* KDM5D_uc011naz.1_Nonsense_Mutation_p.E184*|KDM5D_uc010nwy.2_Nonsense_Mutation_p.E127*|KDM5D_uc011nba.1_Nonsense_Mutation_p.E184*|KDM5D_uc004fuh.2_Intron NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 184 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) TCTTTTACCTCATTGTCAAAC 0.398 10 15 --- --- --- --- PASS ZNF528 84436 broad.mit.edu 37 19 52919096 52919096 + Frame_Shift_Del DEL G - - TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chr19:52919096delG uc002pzh.2 + 7 1417 c.991delG c.(991-993)GGCfs p.G331fs ZNF528_uc002pzi.2_Frame_Shift_Del_p.G98fs NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 331 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TAATAAATGTGGCAAGGTCTT 0.373 93 45 --- --- --- --- IGSF1 3547 broad.mit.edu 37 X 130419264 130419264 + Frame_Shift_Del DEL T - - TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 024d8a82-06c5-4b82-9a27-c52bc4fd450a c75bcb71-2c05-4efd-9e2c-6d6615d2b3b5 g.chrX:130419264delT uc004ewd.2 - 5 794 c.556delA c.(556-558)ATTfs p.I186fs IGSF1_uc004ewe.3_Frame_Shift_Del_p.I175fs|IGSF1_uc004ewf.2_Frame_Shift_Del_p.I166fs|IGSF1_uc004ewg.2_Frame_Shift_Del_p.I186fs NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 186 Ig-like C2-type 2.|Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 AGGTTGTCAATGGAGAATATG 0.522 66 51 --- --- --- ---