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 PRDM16 63976 broad.mit.edu 37 1 3334552 3334552 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:3334552A>G uc001akf.2 + 11 2932 c.2852A>G c.(2851-2853)TAC>TGC p.Y951C PRDM16_uc001akc.2_Missense_Mutation_p.Y950C|PRDM16_uc001akd.2_Missense_Mutation_p.Y950C|PRDM16_uc001ake.2_Missense_Mutation_p.Y951C|PRDM16_uc009vlh.2_Missense_Mutation_p.Y651C NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 951 Mediates interaction with SKI and regulation of TGF-beta signaling.|C2H2-type 8.|Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) AAGGAGCGATACACGTGCAGG 0.652 T EVI1 MDS|AML 18 13 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38409499 38409499 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:38409499C>A uc001ccg.1 - 4 313 c.219G>T c.(217-219)GTG>GTT p.V73V INPP5B_uc009vvk.1_Silent_p.V14V|INPP5B_uc001cch.2_Silent_p.V14V NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 73 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCGAGACTGGCACTATCTGGT 0.582 51 23 --- --- --- --- PASS WDR65 149465 broad.mit.edu 37 1 43665131 43665131 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:43665131C>T uc001cip.1 + 9 1620 c.1499C>T c.(1498-1500)ACG>ATG p.T500M EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.T489M|WDR65_uc001ciq.1_Missense_Mutation_p.T500M NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 500 WD 7. skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TACACCACCACGAGCCTAGAG 0.498 76 38 --- --- --- --- PASS BCAS2 10286 broad.mit.edu 37 1 115113346 115113346 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:115113346C>A uc001efa.2 - 5 498 c.445G>T c.(445-447)GCA>TCA p.A149S DENND2C_uc001eez.2_RNA NM_005872 NP_005863 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 149 Potential. mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding large_intestine(1) 1 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTTCTGTGCGTGTTCAATC 0.269 8 10 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115401310 115401310 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:115401310G>T uc001efr.2 + 6 643 c.434G>T c.(433-435)CGA>CTA p.R145L SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R145L|SYCP1_uc009wgw.2_Missense_Mutation_p.R145L NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 145 Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGCACAGCGAAAAGCCATT 0.333 50 30 --- --- --- --- PASS RBM8A 9939 broad.mit.edu 37 1 145509204 145509204 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:145509204G>T uc001ent.1 + 6 547 c.518G>T c.(517-519)CGT>CTT p.R173L NBPF10_uc001emp.3_Intron|RBM8A_uc001enu.1_Missense_Mutation_p.R172L|RBM8A_uc001enw.1_5'Flank NM_005105 NP_005096 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A 173 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GACCGGAGACGTCGCTGACAG 0.498 77 48 --- --- --- --- PASS NBPF14 25832 broad.mit.edu 37 1 148012533 148012533 + Missense_Mutation SNP T G G rs144977899 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:148012533T>G uc001eqq.2 - 12 1443 c.1426A>C c.(1426-1428)AAG>CAG p.K476Q LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Missense_Mutation_p.K387Q|NBPF14_uc010pae.1_Missense_Mutation_p.K143Q|NBPF14_uc010paf.1_Missense_Mutation_p.K631Q|NBPF14_uc010pad.1_5'Flank|NBPF14_uc001eqs.1_Intron NM_015383 NP_056198 Q5TI25 NBPFE_HUMAN hypothetical protein LOC25832 476 NBPF 5. cytoplasm ovary(1) 1 all_hematologic(923;0.032) CCAACATGCTTTTCCTCCAAT 0.448 6 35 --- --- --- --- PASS SF3B4 10262 broad.mit.edu 37 1 149895540 149895540 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:149895540C>A uc001etj.1 - 6 1220 c.1169G>T c.(1168-1170)CGA>CTA p.R390L SF3B4_uc001eti.1_Missense_Mutation_p.R154L|SF3B4_uc001etk.1_Missense_Mutation_p.R390L NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 390 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GGGTGGGGGTCGTGGAGGGCC 0.642 22 11 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152279999 152279999 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:152279999A>T uc001ezu.1 - 3 7399 c.7363T>A c.(7363-7365)TCC>ACC p.S2455T NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2455 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTCTTGGGACGTTGAGTGC 0.582 Ichthyosis 201 699 --- --- --- --- PASS PMF1 11243 broad.mit.edu 37 1 156206080 156206080 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:156206080C>T uc001fnq.2 + 4 393 c.370C>T c.(370-372)CGC>TGC p.R124C PMF1_uc001fnr.2_Intron|BGLAP_uc001fns.1_Intron NM_007221 NP_009152 Q6P1K2 PMF1_HUMAN polyamine-modulated factor 1 124 cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytosol|MIS12/MIND type complex|transcription factor complex leucine zipper domain binding|transcription coactivator activity 0 Hepatocellular(266;0.158) GCCCTCCAGGCGCCCCAGCGG 0.617 63 272 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156647042 156647042 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:156647042C>T uc001fpq.2 - 1 148 c.15G>A c.(13-15)ATG>ATA p.M5I NM_006617 NP_006608 P48681 NEST_HUMAN nestin 5 Head. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTCCTCCCCCATGCAGCCCT 0.642 21 84 --- --- --- --- PASS NTRK1 4914 broad.mit.edu 37 1 156846302 156846302 + Silent SNP G A A rs138423540 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:156846302G>A uc001fqh.1 + 14 1799 c.1743G>A c.(1741-1743)GAG>GAA p.E581E NTRK1_uc001fqf.1_Silent_p.E545E|NTRK1_uc009wsi.1_Silent_p.E280E|NTRK1_uc001fqi.1_Silent_p.E575E|NTRK1_uc009wsk.1_Silent_p.E578E NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 581 Cytoplasmic (Potential).|Protein kinase. activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) TCTGCACCGAGGGCCGCCCCC 0.667 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) 64 46 --- --- --- --- PASS OR10X1 128367 broad.mit.edu 37 1 158549599 158549599 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:158549599C>A uc010pin.1 - 1 91 c.91G>T c.(91-93)GTT>TTT p.V31F NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 31 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GAAAAGCCAACAAGAATGAAT 0.368 74 242 --- --- --- --- PASS IFI16 3428 broad.mit.edu 37 1 159002392 159002392 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:159002392C>A uc001ftg.2 + 7 1530 c.1240C>A c.(1240-1242)CCT>ACT p.P414T IFI16_uc010pis.1_Missense_Mutation_p.P358T|IFI16_uc001fth.2_Missense_Mutation_p.P13T|IFI16_uc010pit.1_Missense_Mutation_p.P13T NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 414 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GCTTCCATATCCTTCAGAGGC 0.463 9 152 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172222761 172222761 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:172222761G>A uc001gie.2 + 15 1884 c.1708G>A c.(1708-1710)GAT>AAT p.D570N DNM3_uc009wwb.2_Missense_Mutation_p.D570N|DNM3_uc001gif.2_Missense_Mutation_p.D570N NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 580 PH. endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GAAAGTTCGGGATGTGGAAAA 0.318 3 24 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175325459 175325459 + Silent SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:175325459A>C uc001gkp.1 - 14 3195 c.3114T>G c.(3112-3114)TCT>TCG p.S1038S TNR_uc009wwu.1_Silent_p.S1038S NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1038 Fibronectin type-III 8. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) ACTCACGAGTAGAAAAGTTGG 0.478 72 221 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067167 190067167 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:190067167G>C uc001gse.1 - 8 2514 c.2282C>G c.(2281-2283)ACG>AGG p.T761R FAM5C_uc010pot.1_Missense_Mutation_p.T659R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 761 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TAATTTGGTCGTGTCATAATC 0.398 76 305 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197398609 197398609 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:197398609C>A uc001gtz.2 + 8 2842 c.2707C>A c.(2707-2709)CAT>AAT p.H903N CRB1_uc010poz.1_Missense_Mutation_p.H879N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.H791N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.H384N|CRB1_uc001gub.1_Missense_Mutation_p.H552N NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 903 Extracellular (Potential).|EGF-like 13. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGGTGTTTGCCATTCCCGGTG 0.498 252 141 --- --- --- --- PASS SRGAP2 23380 broad.mit.edu 37 1 206634438 206634438 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:206634438G>A uc001hdy.2 + 20 2961 c.2628G>A c.(2626-2628)CAG>CAA p.Q876Q SRGAP2_uc010pru.1_Silent_p.Q799Q NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 963 Potential. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) TAGAACGGCAGAGCAGTGTCA 0.567 15 63 --- --- --- --- PASS KCTD3 51133 broad.mit.edu 37 1 215759950 215759950 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:215759950G>A uc001hks.2 + 9 1033 c.739G>A c.(739-741)GAC>AAC p.D247N KCTD3_uc001hkt.2_Missense_Mutation_p.D247N|KCTD3_uc010pub.1_Missense_Mutation_p.D145N|KCTD3_uc009xdn.2_5'UTR NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 247 WD 1. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TGGAGACAAAGACAAAATGGT 0.448 79 318 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216246232 216246232 + Silent SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:216246232T>G uc001hku.1 - 29 6243 c.5856A>C c.(5854-5856)GCA>GCC p.A1952A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1952 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTATTTACCTGCTCCTGTTG 0.378 HNSCC(13;0.011) 155 105 --- --- --- --- PASS CDC42BPA 8476 broad.mit.edu 37 1 227348261 227348261 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:227348261G>C uc001hqr.2 - 6 1619 c.676C>G c.(676-678)CTG>GTG p.L226V CDC42BPA_uc001hqs.2_Missense_Mutation_p.L226V|CDC42BPA_uc009xes.2_Missense_Mutation_p.L226V|CDC42BPA_uc010pvs.1_Missense_Mutation_p.L226V NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 226 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TCTTCCATCAGCTTCAGACAA 0.308 12 281 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233515049 233515049 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:233515049G>T uc001hvt.3 + 9 2558 c.2297G>T c.(2296-2298)CGG>CTG p.R766L KIAA1804_uc001hvu.3_Missense_Mutation_p.R212L NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 766 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) ATCTTCCAGCGGGCTTCCAAG 0.602 133 91 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237550599 237550599 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:237550599G>A uc001hyl.1 + 9 715 c.595G>A c.(595-597)GGC>AGC p.G199S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 199 Cytoplasmic (By similarity).|MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATGGCAACGGCAGCTTACA 0.493 59 178 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240421269 240421269 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:240421269A>G uc010pyd.1 + 7 4315 c.4090A>G c.(4090-4092)AGA>GGA p.R1364G FMN2_uc010pye.1_Missense_Mutation_p.R1368G|FMN2_uc010pyf.1_Missense_Mutation_p.R10G|FMN2_uc010pyg.1_Intron NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1364 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGCAACAAAAGATCACAAGC 0.308 99 85 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752240 247752240 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:247752240G>T uc010pyy.1 + 1 579 c.579G>T c.(577-579)GTG>GTT p.V193V NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGGCTTGTGTGGGCACCACGT 0.537 93 246 --- --- --- --- PASS OR6F1 343169 broad.mit.edu 37 1 247875180 247875180 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:247875180C>T uc001idj.1 - 1 878 c.878G>A c.(877-879)CGT>CAT p.R293H NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTCCTTATTACGAAGCGTATA 0.438 168 117 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343511 248343511 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:248343511G>T uc010pzf.1 + 1 224 c.224G>T c.(223-225)TGC>TTC p.C75F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGCTCATCTGCACCACCGTA 0.498 97 690 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248437053 248437053 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:248437053G>T uc010pzi.1 - 1 64 c.64C>A c.(64-66)CAC>AAC p.H22N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGGACTTGGTGGGCTCTGGTG 0.463 57 178 --- --- --- --- PASS OR2T12 127064 broad.mit.edu 37 1 248458858 248458858 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:248458858G>A uc010pzj.1 - 1 23 c.23C>T c.(22-24)CCA>CTA p.P8L NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) AATAAAATCTGGGGTAGTATT 0.438 156 113 --- --- --- --- PASS OR14I1 401994 broad.mit.edu 37 1 248845103 248845103 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:248845103C>A uc001ieu.1 - 1 503 c.503G>T c.(502-504)AGA>ATA p.R168I NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CACACTGGATCTGCAAACGTG 0.532 16 59 --- --- --- --- PASS SMC6 79677 broad.mit.edu 37 2 17912378 17912378 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:17912378C>G uc002rco.2 - 7 806 c.510G>C c.(508-510)GAG>GAC p.E170D SMC6_uc010exo.2_Missense_Mutation_p.E170D|SMC6_uc002rcn.2_Missense_Mutation_p.E170D|SMC6_uc002rcp.1_Missense_Mutation_p.E196D|SMC6_uc002rcq.2_Missense_Mutation_p.E196D|SMC6_uc002rcr.1_Missense_Mutation_p.E170D NM_001142286 NP_001135758 Q96SB8 SMC6_HUMAN SMC6 protein 170 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(4)|upper_aerodigestive_tract(1)|kidney(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTGCAATCAGCTCTTCTTTCC 0.333 47 88 --- --- --- --- PASS OSR1 130497 broad.mit.edu 37 2 19553399 19553399 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:19553399C>G uc002rdc.2 - 2 471 c.168G>C c.(166-168)ACG>ACC p.T56T NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN odd-skipped related 1 56 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) GGTAGCCCAGCGTCCACTGAT 0.627 25 39 --- --- --- --- PASS SOS1 6654 broad.mit.edu 37 2 39222461 39222461 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:39222461A>G uc002rrk.3 - 20 3190 c.3149T>C c.(3148-3150)ATG>ACG p.M1050T SOS1_uc002rrj.3_Missense_Mutation_p.M664T NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1050 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) GGGATGCCTCATGGTACCTGG 0.418 Noonan_syndrome 91 112 --- --- --- --- PASS C2orf34 79823 broad.mit.edu 37 2 44981257 44981257 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:44981257G>T uc002rum.2 + 9 866 c.762G>T c.(760-762)AGG>AGT p.R254S NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN hypothetical protein LOC79823 254 cytoplasm calmodulin-lysine N-methyltransferase activity 0 all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17) TCCAGCCCAGGGTAAGTATGT 0.418 22 385 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50149369 50149369 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:50149369C>A uc010fbp.2 - 6 1849 c.1042G>T c.(1042-1044)GGC>TGC p.G348C NRXN1_uc002rxb.3_Missense_Mutation_p.G1082C|NRXN1_uc010fbq.2_Missense_Mutation_p.G1453C|NRXN1_uc002rxe.3_Missense_Mutation_p.G1383C|NRXN1_uc010yon.1_Missense_Mutation_p.G48C|NRXN1_uc002rxa.3_Missense_Mutation_p.G45C NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 348 Extracellular (Potential). angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCTCTCTGCCGCCTGCTCGG 0.507 13 29 --- --- --- --- PASS ACTG2 72 broad.mit.edu 37 2 74146658 74146658 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:74146658T>A uc002sjw.2 + 9 1209 c.1087T>A c.(1087-1089)TAT>AAT p.Y363N ACTG2_uc010fey.2_Missense_Mutation_p.Y363N|ACTG2_uc010yrn.1_Missense_Mutation_p.Y320N NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 363 muscle contraction cytoskeleton|cytosol ATP binding 0 CAAGCCTGAGTATGATGAGGC 0.532 41 50 --- --- --- --- PASS SEMA4F 10505 broad.mit.edu 37 2 74881627 74881627 + Nonsense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:74881627A>T uc002sna.1 + 1 235 c.124A>T c.(124-126)AGA>TGA p.R42* SEMA4F_uc010ysb.1_Nonsense_Mutation_p.R42*|SEMA4F_uc010ffq.1_Nonsense_Mutation_p.R42*|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Nonsense_Mutation_p.R42* NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor 42 Sema.|Extracellular (Potential). cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTCGGTGCCCAGAACCTCGCT 0.726 15 24 --- --- --- --- PASS REG3G 130120 broad.mit.edu 37 2 79254179 79254179 + Missense_Mutation SNP C A A rs115709602 byFrequency TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:79254179C>A uc002snw.2 + 4 300 c.215C>A c.(214-216)CCC>CAC p.P72H REG3G_uc002snx.2_Missense_Mutation_p.P72H|REG3G_uc010ffu.2_Intron NM_198448 NP_940850 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma precursor 72 C-type lectin. acute-phase response extracellular region sugar binding 0 CAGAAGCGGCCCTCTGGAAAA 0.557 78 130 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79971647 79971647 + Silent SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:79971647T>A uc010ysh.1 + 2 242 c.237T>A c.(235-237)GCT>GCA p.A79A CTNNA2_uc010yse.1_Silent_p.A79A|CTNNA2_uc010ysf.1_Silent_p.A79A|CTNNA2_uc010ysg.1_Silent_p.A79A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 79 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AACAGATCGCTAAGGAGAGTC 0.453 18 39 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89442273 89442273 + RNA SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:89442273C>A uc010ytr.1 - 33 c.4144G>T uc002stl.2_Intron Parts of antibodies, mostly variable regions. TCTGACTGGCCCTGCAGGAGA 0.552 60 93 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98409296 98409296 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:98409296C>T uc002syh.3 - 31 3926 c.3697G>A c.(3697-3699)GAA>AAA p.E1233K NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1233 integral to membrane ovary(4)|central_nervous_system(2) 6 CTGACGTTTTCCACGTCAGCT 0.512 6 64 --- --- --- --- PASS ANAPC1 64682 broad.mit.edu 37 2 112539964 112539964 + Silent SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:112539964A>T uc002thi.2 - 43 5431 c.5184T>A c.(5182-5184)TCT>TCA p.S1728S NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1728 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 CCCGGGCTTCAGAGTTCCTGT 0.433 7 62 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133542370 133542370 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:133542370C>T uc002ttp.2 - 14 2388 c.2014G>A c.(2014-2016)GAT>AAT p.D672N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 672 protein binding 0 TCTTCCGCATCAAATATCACA 0.443 94 132 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136873260 136873260 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:136873260G>A uc002tuz.2 - 2 333 c.238C>T c.(238-240)CTG>TTG p.L80L CXCR4_uc002tuy.2_Silent_p.L84L|CXCR4_uc010fnk.2_Silent_p.L65L NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 80 Helical; Name=2. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GCCACTGACAGGTGCAGCCTG 0.512 14 216 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152487332 152487332 + Missense_Mutation SNP C T T rs111841612 by1000genomes TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:152487332C>T uc010fnx.2 - 63 9082 c.8891G>A c.(8890-8892)CGT>CAT p.R2964H NEB_uc002txu.2_Missense_Mutation_p.R311H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2964 Nebulin 80. 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) TGTGTATAAACGCTATAAAAG 0.318 3 19 --- --- --- --- PASS TTC21B 79809 broad.mit.edu 37 2 166744965 166744965 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:166744965C>T uc002udk.2 - 25 3416 c.3283G>A c.(3283-3285)GAA>AAA p.E1095K TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1095 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TGCACAGATTCTTGCTTCTCA 0.348 5 78 --- --- --- --- PASS KLHL23 151230 broad.mit.edu 37 2 170591838 170591838 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:170591838G>T uc002ufh.1 + 4 652 c.314G>T c.(313-315)AGA>ATA p.R105I KLHL23_uc002ufi.1_Missense_Mutation_p.R105I NM_144711 NP_653312 Q8NBE8 KLH23_HUMAN kelch-like 23 105 0 ATAACTAAAAGAAATGTTCAA 0.363 51 81 --- --- --- --- PASS DLX2 1746 broad.mit.edu 37 2 172967087 172967087 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:172967087G>T uc002uhn.2 - 1 392 c.180C>A c.(178-180)ACC>ACA p.T60T DLX2_uc010zdx.1_Silent_p.T60T NM_004405 NP_004396 Q07687 DLX2_HUMAN distal-less homeobox 2 60 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.216) TGTCGGTGGCGGTGGACACCG 0.373 9 9 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098815 178098815 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:178098815T>C uc002ulh.3 - 2 785 c.230A>G c.(229-231)GAT>GGT p.D77G NFE2L2_uc002ulg.3_Missense_Mutation_p.D61G|NFE2L2_uc010zfa.1_Missense_Mutation_p.D61G|NFE2L2_uc002uli.3_Missense_Mutation_p.D61G|NFE2L2_uc010fra.2_Missense_Mutation_p.D61G|NFE2L2_uc010frb.2_Missense_Mutation_p.D61G NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 77 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TGTCTCTTCATCTAGTTGTAA 0.433 Mis NSCLC|HNSCC HNSCC(56;0.16) 54 79 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179441890 179441890 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:179441890T>A uc010zfg.1 - 273 61692 c.61468A>T c.(61468-61470)ACA>TCA p.T20490S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T14185S|TTN_uc010zfi.1_Missense_Mutation_p.T14118S|TTN_uc010zfj.1_Missense_Mutation_p.T13993S|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21417 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGTAAGTGTTGCTTTTTCA 0.458 34 54 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179575470 179575470 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:179575470C>T uc010zfg.1 - 95 24846 c.24622G>A c.(24622-24624)GCC>ACC p.A8208T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4869T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9135 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCAGGTGGGCGCTGTTTTCC 0.483 64 111 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179598145 179598145 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:179598145G>A uc010zfg.1 - 51 12367 c.12143C>T c.(12142-12144)CCC>CTC p.P4048L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P709L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4975 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTACCATTTGGGCTTCAGTTC 0.478 102 170 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179656920 179656920 + Missense_Mutation SNP C A A rs139178471 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:179656920C>A uc010zfg.1 - 10 1765 c.1541G>T c.(1540-1542)AGA>ATA p.R514I TTN_uc010zfh.1_Missense_Mutation_p.R514I|TTN_uc010zfi.1_Missense_Mutation_p.R514I|TTN_uc010zfj.1_Missense_Mutation_p.R514I|TTN_uc002unb.2_Missense_Mutation_p.R514I|TTN_uc010frg.1_Missense_Mutation_p.R188I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 514 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTTCTTTTCTTATCTGCAA 0.284 31 40 --- --- --- --- PASS ITGA4 3676 broad.mit.edu 37 2 182388249 182388249 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:182388249A>G uc002unu.2 + 19 2922 c.2159A>G c.(2158-2160)CAT>CGT p.H720R ITGA4_uc010frj.1_Missense_Mutation_p.H202R|ITGA4_uc002unv.2_5'UTR NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 720 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TATGTAGATCATCTCTCAAGG 0.328 35 48 --- --- --- --- PASS ZNF804A 91752 broad.mit.edu 37 2 185802960 185802960 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:185802960A>T uc002uph.2 + 4 3431 c.2837A>T c.(2836-2838)AAT>ATT p.N946I NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 946 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 ATAAATCTTAATGAAAAGCAA 0.398 44 65 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189857616 189857616 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:189857616C>A uc002uqj.1 + 15 1117 c.1000C>A c.(1000-1002)CCT>ACT p.P334T COL3A1_uc010frw.1_RNA NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 334 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTTTCAGGGCCCTCCTGGTCC 0.383 58 101 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196664156 196664156 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:196664156C>T uc002utj.3 - 55 10318 c.10217G>A c.(10216-10218)GGA>GAA p.G3406E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3406 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GAATGCACGTCCCAATCTGTT 0.403 59 84 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196825095 196825095 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:196825095G>T uc002utj.3 - 18 2881 c.2780C>A c.(2779-2781)ACA>AAA p.T927K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 927 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAAAATAAATGTCCCAGTTTC 0.368 95 163 --- --- --- --- PASS FZD7 8324 broad.mit.edu 37 2 202899509 202899509 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:202899509G>T uc002uyw.1 + 1 200 c.139G>T c.(139-141)GGC>TGC p.G47C NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 47 FZ.|Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 GCCGGACCACGGCTTCTGCCA 0.697 51 79 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211471664 211471664 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:211471664G>T uc002vee.3 + 18 2323 c.2191G>T c.(2191-2193)GGC>TGC p.G731C CPS1_uc010fur.2_Missense_Mutation_p.G737C|CPS1_uc010fus.2_Missense_Mutation_p.G280C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 731 ATP-grasp 1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AAAAGCCACTGGGTAAGACCA 0.418 34 52 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211512690 211512690 + Missense_Mutation SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:211512690A>C uc002vee.3 + 26 3377 c.3245A>C c.(3244-3246)CAG>CCG p.Q1082P CPS1_uc010fur.2_Missense_Mutation_p.Q1088P|CPS1_uc010fus.2_Missense_Mutation_p.Q631P NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1082 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AGCCCCCTGCAGATCGACAGG 0.507 38 90 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212989506 212989506 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:212989506C>T uc002veg.1 - 2 303 c.205G>A c.(205-207)GAG>AAG p.E69K ERBB4_uc002veh.1_Missense_Mutation_p.E69K|ERBB4_uc010zji.1_Missense_Mutation_p.E69K|ERBB4_uc010zjj.1_Missense_Mutation_p.E69K|ERBB4_uc010fut.1_Missense_Mutation_p.E69K NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 69 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CGGTTGTGCTCAATGCTGGTT 0.512 TSP Lung(8;0.080) 33 58 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219892395 219892395 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:219892395G>A uc002vjl.1 - 13 2272 c.2188C>T c.(2188-2190)CTC>TTC p.L730F CCDC108_uc010fwa.1_Missense_Mutation_p.L173F|CCDC108_uc010zkp.1_Missense_Mutation_p.L719F|CCDC108_uc010zkq.1_Missense_Mutation_p.L665F NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 730 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGGCTTCGAGCTCCACCGTG 0.612 5 203 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225367790 225367790 + Splice_Site SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:225367790C>T uc002vny.2 - 10 1762 c.1378_splice c.e10-1 p.T460_splice CUL3_uc010zls.1_Splice_Site_p.T394_splice|CUL3_uc010fwy.1_Splice_Site_p.T466_splice|CUL3_uc002vnz.1_5'Flank NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) CACATTCAGTCTGTGGAGGAA 0.353 125 187 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227895204 227895204 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:227895204C>T uc010zlt.1 - 41 4582 c.3928G>A c.(3928-3930)GGA>AGA p.G1310R NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 1310 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTTTGTATCCTGGAGGGCCT 0.532 99 130 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227942619 227942619 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:227942619C>A uc010zlt.1 - 25 2632 c.1978G>T c.(1978-1980)GGT>TGT p.G660C NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 660 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCTTTCTGACCCTTCAAGCCA 0.358 13 41 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233410280 233410280 + Silent SNP C A A rs121912671 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:233410280C>A uc002vsx.1 + 12 1429 c.1408C>A c.(1408-1410)CGA>AGA p.R470R CHRNG_uc010fye.1_Silent_p.R418R NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 470 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCTGGTGGGCCGAGTGCTGGA 0.632 29 42 --- --- --- --- PASS EFHD1 80303 broad.mit.edu 37 2 233546384 233546384 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:233546384C>G uc002vtc.2 + 4 883 c.675C>G c.(673-675)CTC>CTG p.L225L EFHD1_uc010fyf.2_Silent_p.L129L|EFHD1_uc002vtd.2_Silent_p.L113L NM_025202 NP_079478 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 225 calcium ion binding|protein binding 0 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) AGAGGCGGCTCCGCCAGGCAG 0.562 62 89 --- --- --- --- PASS CAND2 23066 broad.mit.edu 37 3 12856708 12856708 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:12856708A>T uc003bxk.2 + 8 1124 c.1075A>T c.(1075-1077)ATC>TTC p.I359F CAND2_uc003bxj.2_Missense_Mutation_p.I266F NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 359 HEAT 8. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGCCAAGTGCATCGCAGCCTT 0.602 43 38 --- --- --- --- PASS FBLN2 2199 broad.mit.edu 37 3 13659716 13659716 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:13659716G>T uc011avb.1 + 6 1995 c.1870G>T c.(1870-1872)GTG>TTG p.V624L FBLN2_uc011auz.1_Missense_Mutation_p.V650L|FBLN2_uc011ava.1_Missense_Mutation_p.V624L|FBLN2_uc011avc.1_Missense_Mutation_p.V624L NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 624 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CATCAATACTGTGGGTTCTTA 0.632 95 39 --- --- --- --- PASS PLCL2 23228 broad.mit.edu 37 3 17053469 17053469 + Missense_Mutation SNP C G G rs140113907 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:17053469C>G uc011awc.1 + 5 2712 c.2607C>G c.(2605-2607)CAC>CAG p.H869Q PLCL2_uc011awd.1_Missense_Mutation_p.H751Q NM_001144382 NP_001137854 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 isoform 1 877 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(2)|ovary(1)|lung(1) 4 TATTTGTCCACGTGGCTATTA 0.468 84 38 --- --- --- --- PASS PTPRG 5793 broad.mit.edu 37 3 61975462 61975462 + Missense_Mutation SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:61975462A>C uc003dlb.2 + 3 1073 c.354A>C c.(352-354)AAA>AAC p.K118N PTPRG_uc003dlc.2_Missense_Mutation_p.K118N NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 118 Extracellular (Potential).|Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCTGGATGAAAAACACAGGGA 0.423 12 38 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100962390 100962390 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:100962390G>T uc003duq.1 - 13 2988 c.2785C>A c.(2785-2787)CAA>AAA p.Q929K IMPG2_uc011bhe.1_Missense_Mutation_p.Q792K NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 929 Extracellular (Potential).|SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AAGAATCTTTGCTCCAGGGCT 0.408 20 14 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108183497 108183497 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:108183497A>G uc003dxa.1 - 16 1836 c.1779T>C c.(1777-1779)CAT>CAC p.H593H NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 593 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTCCTGCATAATGGACAAGTT 0.413 186 61 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357210 112357210 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:112357210G>T uc003dzf.2 - 2 1761 c.1543C>A c.(1543-1545)CCT>ACT p.P515T CCDC80_uc011bhv.1_Missense_Mutation_p.P515T|CCDC80_uc003dzg.2_Missense_Mutation_p.P515T|CCDC80_uc003dzh.1_Missense_Mutation_p.P515T NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 515 Lys-rich. ovary(2) 2 GAGGCAGTAGGCCGGCTGAGG 0.483 31 173 --- --- --- --- PASS HSPBAP1 79663 broad.mit.edu 37 3 122496727 122496727 + Nonsense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:122496727C>A uc003efu.1 - 2 214 c.91G>T c.(91-93)GAG>TAG p.E31* HSPBAP1_uc003efv.1_Nonsense_Mutation_p.E31* NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 31 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) TTTGCTTTCTCTGGCTTAAAA 0.343 17 33 --- --- --- --- PASS ROPN1 54763 broad.mit.edu 37 3 123688018 123688018 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:123688018C>A uc003eha.2 - 7 964 c.623G>T c.(622-624)AGG>ATG p.R208M NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN ropporin 208 signal transduction cAMP-dependent protein kinase regulator activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.148) CAGCTGAACCCTGGGGTTTTG 0.373 46 125 --- --- --- --- PASS MGLL 11343 broad.mit.edu 37 3 127540634 127540634 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:127540634T>A uc003ejx.2 - 2 173 c.28A>T c.(28-30)ACC>TCC p.T10S MGLL_uc003ejw.2_Missense_Mutation_p.T20S|MGLL_uc011bko.1_Missense_Mutation_p.T20S|MGLL_uc010hsp.1_Missense_Mutation_p.T10S NM_001003794 NP_001003794 Q99685 MGLL_HUMAN monoglyceride lipase isoform 2 10 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity 0 CTCTGCGGGGTCCGCCTGGGG 0.517 174 42 --- --- --- --- PASS PIK3R4 30849 broad.mit.edu 37 3 130424510 130424510 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:130424510C>T uc003enj.2 - 12 3408 c.2827G>A c.(2827-2829)GAA>AAA p.E943K NM_014602 NP_055417 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 943 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1) 12 TGCTGAAGTTCAGTTTTACAA 0.403 47 216 --- --- --- --- PASS ZBTB38 253461 broad.mit.edu 37 3 141163318 141163318 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:141163318G>C uc003etw.2 + 8 3070 c.2088G>C c.(2086-2088)TTG>TTC p.L696F ZBTB38_uc010hun.2_Missense_Mutation_p.L693F|ZBTB38_uc010huo.2_Missense_Mutation_p.L696F|ZBTB38_uc003ety.2_Missense_Mutation_p.L696F|ZBTB38_uc010hup.2_Missense_Mutation_p.L697F NM_001080412 NP_001073881 Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 696 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TTTTATCTTTGAGTAATAGCA 0.463 4 197 --- --- --- --- PASS TRPC1 7220 broad.mit.edu 37 3 142511727 142511727 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:142511727G>T uc003evc.2 + 9 1635 c.1499G>T c.(1498-1500)GGG>GTG p.G500V TRPC1_uc003evb.2_Missense_Mutation_p.G466V|TRPC1_uc011bni.1_Intron NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 500 Extracellular (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 GTGGCAGAAGGGCTTTTTGCA 0.368 78 124 --- --- --- --- PASS WWTR1 25937 broad.mit.edu 37 3 149290745 149290745 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:149290745C>G uc003exe.2 - 2 490 c.474G>C c.(472-474)GCG>GCC p.A158A WWTR1_uc003exf.2_Silent_p.A158A|WWTR1_uc011bns.1_Silent_p.A158A|WWTR1_uc003exh.2_Silent_p.A158A NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 158 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GCTGATTCATCGCCTTCCTAG 0.433 6 149 --- --- --- --- PASS PFN2 5217 broad.mit.edu 37 3 149684332 149684332 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:149684332C>T uc003ext.1 - 3 465 c.367G>A c.(367-369)GGA>AGA p.G123R PFN2_uc003exs.1_Intron|PFN2_uc003exu.1_Intron|PFN2_uc011bnu.1_Intron NM_053024 NP_444252 P35080 PROF2_HUMAN profilin 2 isoform a 123 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TTATTCAATCCGCCTCCATGG 0.388 16 783 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150881801 150881801 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:150881801C>T uc003eyp.2 + 8 1267 c.1229C>T c.(1228-1230)CCG>CTG p.P410L MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.P410L|MED12L_uc003eyo.2_Missense_Mutation_p.P410L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 410 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTCCCCATGCCGGGTGGGAAC 0.433 50 107 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 151100489 151100489 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:151100489G>A uc003eyp.2 + 31 4569 c.4531G>A c.(4531-4533)GCG>ACG p.A1511T MED12L_uc011bnz.1_Missense_Mutation_p.A1371T|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A674T NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1511 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGACATAAAAGCGCGGCAGAT 0.348 14 46 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167045904 167045904 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:167045904C>A uc003fep.2 - 11 1011 c.688G>T c.(688-690)GTA>TTA p.V230L ZBBX_uc011bpc.1_Missense_Mutation_p.V230L|ZBBX_uc003feq.2_Missense_Mutation_p.V201L NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 230 intracellular zinc ion binding ovary(2) 2 GTAATTTCTACCTAATTAAAA 0.318 82 110 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175184863 175184863 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:175184863G>C uc003fit.2 + 8 1511 c.1424G>C c.(1423-1425)CGT>CCT p.R475P NAALADL2_uc003fiu.1_Missense_Mutation_p.R468P|NAALADL2_uc010hwy.1_Missense_Mutation_p.R249P|NAALADL2_uc010hwz.1_Missense_Mutation_p.R69P NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 475 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) GCGTTTATCCGTGCCTTGATG 0.438 97 207 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183904636 183904636 + Nonsense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:183904636C>T uc003fmz.2 + 3 407 c.274C>T c.(274-276)CAG>TAG p.Q92* ABCF3_uc003fna.2_Nonsense_Mutation_p.Q86*|ABCF3_uc003fnb.2_5'Flank NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 92 ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CGCCCCTATCCAGTTGTCAAA 0.547 24 95 --- --- --- --- PASS CLDN1 9076 broad.mit.edu 37 3 190026066 190026066 + Nonstop_Mutation SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:190026066T>G uc003fsh.2 - 4 856 c.636A>C c.(634-636)TGA>TGC p.*212C NM_021101 NP_066924 O95832 CLD1_HUMAN claudin 1 212 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(1) 1 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) TGCCTCTGTGTCACACGTAGT 0.433 39 311 --- --- --- --- PASS CCDC50 152137 broad.mit.edu 37 3 191074882 191074882 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr3:191074882C>G uc003fsw.2 + 2 645 c.55C>G c.(55-57)CGA>GGA p.R19G CCDC50_uc003fsv.2_Missense_Mutation_p.R19G NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 19 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) TCTAGTATGCCGAGATTTTGC 0.378 16 72 --- --- --- --- PASS PDS5A 23244 broad.mit.edu 37 4 39839791 39839791 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:39839791C>T uc003guv.3 - 32 4235 c.3695G>A c.(3694-3696)AGC>AAC p.S1232N PDS5A_uc010ifo.2_Missense_Mutation_p.S1192N NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 1232 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TCGGTCACTGCTGATGTTGCC 0.388 3 25 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44177267 44177267 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:44177267C>A uc003gwu.2 - 2 1246 c.962G>T c.(961-963)CGA>CTA p.R321L NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 321 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CTGAGGTGGTCCTAAAAAGGA 0.323 HNSCC(17;0.042) 25 16 --- --- --- --- PASS USP46 64854 broad.mit.edu 37 4 53492340 53492340 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:53492340G>A uc003gzn.2 - 4 591 c.406C>T c.(406-408)CTT>TTT p.L136F USP46_uc003gzm.3_Missense_Mutation_p.L129F|USP46_uc011bzr.1_Missense_Mutation_p.L113F|USP46_uc011bzs.1_Missense_Mutation_p.L20F NM_022832 NP_073743 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 isoform 1 136 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(32;0.0295) TCCTCCTGAAGGATGTCCGCA 0.373 4 48 --- --- --- --- PASS AASDH 132949 broad.mit.edu 37 4 57237718 57237718 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:57237718A>T uc003hbn.2 - 5 913 c.760T>A c.(760-762)TCA>ACA p.S254T AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S101T|AASDH_uc003hbo.2_Missense_Mutation_p.S154T|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.S254T|AASDH_uc003hbp.2_Missense_Mutation_p.S254T NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 254 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) GCACCACTTGATAGAGCAAGA 0.423 3 37 --- --- --- --- PASS MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:71346978T>C uc011cat.1 + 4 805 c.517T>C c.(517-519)TCT>CCT p.S173P MUC7_uc011cau.1_Missense_Mutation_p.S173P|MUC7_uc003hfj.2_Missense_Mutation_p.S173P|uc011cav.1_RNA NM_001145006 NP_001138478 Q8TAX7 MUC7_HUMAN mucin 7, secreted precursor 173 1.|Thr-rich. extracellular region protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522 3 138 --- --- --- --- PASS ANKRD17 26057 broad.mit.edu 37 4 73986010 73986010 + Silent SNP C G G rs139894750 byFrequency TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:73986010C>G uc003hgp.2 - 21 4011 c.3894G>C c.(3892-3894)GCG>GCC p.A1298A ANKRD17_uc003hgo.2_Silent_p.A1185A|ANKRD17_uc003hgq.2_Silent_p.A1047A|ANKRD17_uc003hgr.2_Silent_p.A1297A|ANKRD17_uc011cbd.1_Silent_p.A863A NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1298 ANK 22. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGCCCACCTCCGCATATCCAC 0.443 29 24 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113510904 113510904 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:113510904C>A uc003iau.2 - 11 3314 c.3103G>T c.(3103-3105)GAT>TAT p.D1035Y C4orf21_uc003iav.2_5'Flank|C4orf21_uc003iaw.2_Missense_Mutation_p.D1035Y 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) AAATGAAGATCATCAGGTAAA 0.358 4 91 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156792 155156792 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:155156792C>A uc003inw.2 - 25 7647 c.7647G>T c.(7645-7647)GTG>GTT p.V2549V NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2549 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTATCAGAAACACTAAAAAGG 0.378 27 10 --- --- --- --- PASS HAND2 9464 broad.mit.edu 37 4 174450308 174450308 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:174450308C>A uc003ith.1 - 1 1071 c.133G>T c.(133-135)GGC>TGC p.G45C NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Missense_Mutation_p.G45C|HAND2_uc010ire.1_Missense_Mutation_p.G45C NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 45 adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) ATGAGCCAGCCATGGAAGTAG 0.502 16 2 --- --- --- --- PASS ZFP42 132625 broad.mit.edu 37 4 188924884 188924884 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:188924884A>G uc003izg.1 + 3 1168 c.923A>G c.(922-924)GAG>GGG p.E308G ZFP42_uc003izh.1_Missense_Mutation_p.E308G|ZFP42_uc003izi.1_Missense_Mutation_p.E308G NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 308 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) AATGAACAAGAGGGAAAGTAG 0.403 20 10 --- --- --- --- PASS MTRR 4552 broad.mit.edu 37 5 7875392 7875392 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:7875392C>A uc003jed.2 + 4 416 c.386C>A c.(385-387)ACC>AAC p.T129N MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_Missense_Mutation_p.T102N|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 129 FMN (By similarity).|Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCAGAATACACCTACTTTTGC 0.373 14 417 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24505315 24505315 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:24505315G>T uc003jgr.1 - 8 1631 c.1299C>A c.(1297-1299)AAC>AAA p.N433K CDH10_uc011cnu.1_Intron NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 433 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CTGAATGAATGTTAAAGATTC 0.368 HNSCC(23;0.051) 53 64 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24537743 24537743 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:24537743T>C uc003jgr.1 - 3 604 c.272A>G c.(271-273)TAT>TGT p.Y91C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 91 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) AGATAAGATATATTTGAGTGA 0.373 HNSCC(23;0.051) 147 13 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32090943 32090943 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:32090943G>A uc003jhl.2 + 20 7777 c.7389G>A c.(7387-7389)AAG>AAA p.K2463K PDZD2_uc003jhm.2_Silent_p.K2463K NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 2463 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CTCCTGTTAAGAGGAACAAGT 0.562 10 276 --- --- --- --- PASS F2RL2 2151 broad.mit.edu 37 5 75913823 75913823 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:75913823G>T uc003kem.2 - 2 894 c.709C>A c.(709-711)CTT>ATT p.L237I IQGAP2_uc003kek.2_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.1_Intron|IQGAP2_uc003kel.2_Intron|F2RL2_uc011csw.1_Missense_Mutation_p.L215I NM_004101 NP_004092 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 237 Extracellular (Potential). platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity skin(2)|ovary(1) 3 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GGCTGAACAAGATAATATTCC 0.453 14 9 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90074700 90074700 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:90074700C>T uc003kju.2 + 64 12964 c.12868C>T c.(12868-12870)CGT>TGT p.R4290C GPR98_uc003kjt.2_Missense_Mutation_p.R1996C|GPR98_uc003kjw.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4290 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CACAATCATCCGTTCCAGTGG 0.438 63 40 --- --- --- --- PASS KCTD16 57528 broad.mit.edu 37 5 143853480 143853480 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:143853480G>T uc003lnm.1 + 4 1719 c.1090G>T c.(1090-1092)GAC>TAC p.D364Y KCTD16_uc003lnn.1_Missense_Mutation_p.D364Y NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 364 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) GCGGAAAAGCGACTTACTCCG 0.522 36 23 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160047944 160047944 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:160047944G>T uc003lym.1 - 15 2673 c.1826C>A c.(1825-1827)CCC>CAC p.P609H ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.P167H NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 609 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTGCTTGAGGGTTTGATGGT 0.458 132 75 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160757955 160757955 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr5:160757955G>T uc003lys.1 - 9 1230 c.1012C>A c.(1012-1014)CAA>AAA p.Q338K GABRB2_uc011deh.1_Missense_Mutation_p.Q177K|GABRB2_uc003lyr.1_Missense_Mutation_p.Q338K|GABRB2_uc003lyt.1_Missense_Mutation_p.Q338K|GABRB2_uc010jiu.1_Missense_Mutation_p.Q275K NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 338 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCTTTCTTTTGGCGTTGGGGC 0.498 110 54 --- --- --- --- PASS RHAG 6005 broad.mit.edu 37 6 49578736 49578736 + Splice_Site SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:49578736C>T uc003ozk.3 - 7 1129 c.1067_splice c.e7+1 p.T356_splice RHAG_uc010jzl.2_Splice_Site_p.T356_splice|RHAG_uc010jzm.2_Intron NM_000324 NP_000315 Q02094 RHAG_HUMAN Rh-associated glycoprotein carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|skin(1) 2 Lung NSC(77;0.0255) CTTTTACTCACGTGTTGGAGG 0.502 25 63 --- --- --- --- PASS GSTA2 2939 broad.mit.edu 37 6 52622742 52622742 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:52622742C>T uc003pay.2 - 2 154 c.4G>A c.(4-6)GCA>ACA p.A2T NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 2 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GGCTTCTCTGCCATGGTAGCA 0.418 49 63 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56457026 56457026 + Missense_Mutation SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:56457026A>C uc003pdf.2 - 43 6528 c.6500T>G c.(6499-6501)ATT>AGT p.I2167S DST_uc003pcz.3_Missense_Mutation_p.I1989S|DST_uc011dxj.1_Missense_Mutation_p.I2018S|DST_uc011dxk.1_Missense_Mutation_p.I2029S|DST_uc003pcy.3_Missense_Mutation_p.I1663S|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4075 Spectrin 3. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GTCCACCGCAATAGGTTCAGA 0.448 17 31 --- --- --- --- PASS DST 667 broad.mit.edu 37 6 56504519 56504519 + Nonsense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:56504519A>T uc003pdf.2 - 19 2601 c.2573T>A c.(2572-2574)TTA>TAA p.L858* DST_uc003pcz.3_Nonsense_Mutation_p.L680*|DST_uc011dxj.1_Nonsense_Mutation_p.L709*|DST_uc011dxk.1_Nonsense_Mutation_p.L720*|DST_uc011dxl.1_Nonsense_Mutation_p.L709*|DST_uc003pcy.3_Nonsense_Mutation_p.L354*|DST_uc003pdb.2_Nonsense_Mutation_p.L354*|DST_uc003pdc.3_Nonsense_Mutation_p.L354*|DST_uc003pdd.3_Nonsense_Mutation_p.L354*|DST_uc003pde.2_Nonsense_Mutation_p.L796* NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 680 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTGACTCTCTAATCTGTGCAA 0.328 108 160 --- --- --- --- PASS PHF3 23469 broad.mit.edu 37 6 64394311 64394311 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:64394311G>T uc003pep.1 + 3 714 c.688G>T c.(688-690)GAT>TAT p.D230Y PHF3_uc010kaf.1_Missense_Mutation_p.D230Y|PHF3_uc003pem.2_Missense_Mutation_p.D183Y|PHF3_uc010kag.1_Missense_Mutation_p.D142Y|PHF3_uc010kah.1_Missense_Mutation_p.D44Y|PHF3_uc003pen.2_Missense_Mutation_p.D142Y|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Missense_Mutation_p.D230Y NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 230 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGAAATGAAGGATGAAGATGG 0.378 61 111 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446610 85446610 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:85446610T>A uc003pkl.1 - 8 1617 c.1617A>T c.(1615-1617)AAA>AAT p.K539N TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 539 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGGCAGCCAGTTTGGGGGATG 0.502 90 122 --- --- --- --- PASS MAP3K7 6885 broad.mit.edu 37 6 91226264 91226264 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:91226264C>T uc003pnz.1 - 17 1939 c.1777G>A c.(1777-1779)GAG>AAG p.E593K MAP3K7_uc003pny.1_Missense_Mutation_p.E130K|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Missense_Mutation_p.E566K|MAP3K7_uc003poc.1_3'UTR NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 593 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) CTGATGACCTCTAGTTGTTTT 0.378 88 163 --- --- --- --- PASS GPR63 81491 broad.mit.edu 37 6 97246999 97246999 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:97246999C>A uc010kcl.2 - 3 1087 c.609G>T c.(607-609)TGG>TGT p.W203C GPR63_uc003pou.2_Missense_Mutation_p.W203C NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 203 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AGGAAGTTGCCCAAGAAACTG 0.463 68 90 --- --- --- --- PASS KLHL32 114792 broad.mit.edu 37 6 97561847 97561847 + Silent SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:97561847T>C uc010kcm.1 + 7 1288 c.816T>C c.(814-816)TAT>TAC p.Y272Y KLHL32_uc003poy.2_Silent_p.Y272Y|KLHL32_uc011ead.1_Silent_p.Y236Y|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Silent_p.Y203Y|KLHL32_uc003ppa.2_Intron NM_052904 NP_443136 Q96NJ5 KLH32_HUMAN kelch-like 32 272 ovary(3)|skin(1) 4 all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122) BRCA - Breast invasive adenocarcinoma(108;0.0558) AGAGCATCTATGCACAGCCTG 0.537 39 50 --- --- --- --- PASS FIG4 9896 broad.mit.edu 37 6 110059537 110059537 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:110059537G>T uc003ptt.2 + 7 871 c.656G>T c.(655-657)GGG>GTG p.G219V FIG4_uc011eau.1_Intron NM_014845 NP_055660 Q92562 FIG4_HUMAN Sac domain-containing inositol phosphatase 3 219 SAC. cell death endosome membrane protein binding ovary(1) 1 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GGGGTATTTGGGATCTGTAGT 0.299 55 164 --- --- --- --- PASS SLC35F1 222553 broad.mit.edu 37 6 118556697 118556697 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:118556697A>G uc003pxx.3 + 3 576 c.375A>G c.(373-375)TTA>TTG p.L125L NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 125 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) TGGCAATTTTACGACGAAGAT 0.378 50 68 --- --- --- --- PASS PLN 5350 broad.mit.edu 37 6 118880183 118880183 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:118880183C>T uc003pye.2 + 2 310 c.99C>T c.(97-99)ATC>ATT p.I33I C6orf204_uc003pxz.1_Intron|C6orf204_uc003pya.1_Intron|C6orf204_uc003pyb.2_Intron|C6orf204_uc011ebj.1_Intron|C6orf204_uc003pyc.2_Intron NM_002667 NP_002658 P26678 PPLA_HUMAN phospholamban 33 Helical; (Potential). blood circulation|regulation of calcium ion transport integral to membrane|mitochondrial membrane|sarcoplasmic reticulum calcium channel regulator activity|protein binding 0 all_cancers(87;0.0916)|all_epithelial(87;0.131) GBM - Glioblastoma multiforme(226;0.0325)|all cancers(137;0.154)|OV - Ovarian serous cystadenocarcinoma(136;0.176) ATCTATTTATCAATTTCTGTC 0.413 5 190 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129748927 129748927 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:129748927G>T uc003qbn.2 + 41 6001 c.5896G>T c.(5896-5898)GAT>TAT p.D1966Y LAMA2_uc003qbo.2_Missense_Mutation_p.D1966Y NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1966 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ATTAAAGGAAGATGCCAAAGG 0.338 85 40 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133065441 133065441 + Nonstop_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:133065441A>G uc003qdt.2 - 7 1572 c.1561T>C c.(1561-1563)TAG>CAG p.*521Q VNN2_uc003qds.2_Nonstop_Mutation_p.*230Q|VNN2_uc010kgb.2_Nonstop_Mutation_p.*300Q|VNN2_uc003qdv.2_Nonstop_Mutation_p.*468Q NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 521 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GAGACGCCCTATAACATTACA 0.368 42 17 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136589379 136589379 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:136589379C>A uc003qgx.1 - 10 2571 c.2318G>T c.(2317-2319)AGA>ATA p.R773I BCLAF1_uc011edb.1_Missense_Mutation_p.R101I|BCLAF1_uc003qgw.1_Missense_Mutation_p.R600I|BCLAF1_uc003qgy.1_Missense_Mutation_p.R771I|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R771I NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 773 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTTCTTCTCTTTCCTTCTT 0.383 38 113 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152647160 152647160 + Nonsense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:152647160A>T uc010kiw.2 - 80 15973 c.15371T>A c.(15370-15372)TTG>TAG p.L5124* SYNE1_uc003qot.3_Nonsense_Mutation_p.L5053*|SYNE1_uc003qou.3_Nonsense_Mutation_p.L5124*|SYNE1_uc010kiz.2_Nonsense_Mutation_p.L879* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5124 Spectrin 16.|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) AAACTCAGACAATTTCTTTTC 0.373 HNSCC(10;0.0054) 29 14 --- --- --- --- PASS RBAK 57786 broad.mit.edu 37 7 5103389 5103389 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:5103389A>T uc010kss.1 + 6 626 c.302A>T c.(301-303)CAA>CTA p.Q101L LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.Q101L NM_021163 NP_066986 Q9NYW8 RBAK_HUMAN RB-associated KRAB repressor 101 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(3)|kidney(1)|skin(1) 5 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) CATTCAAGGCAAGCTGCTTGT 0.353 72 15 --- --- --- --- PASS MIOS 54468 broad.mit.edu 37 7 7612910 7612910 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:7612910A>T uc003srf.2 + 4 1112 c.804A>T c.(802-804)AAA>AAT p.K268N MIOS_uc010ktp.1_Missense_Mutation_p.K268N NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 268 WD 5. 0 AGCAACCAAAACCCTTAACAA 0.393 180 32 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37907339 37907339 + Silent SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:37907339T>C uc003tfn.2 + 11 1029 c.657T>C c.(655-657)AGT>AGC p.S219S NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 219 NDK 1. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TTATGACAAGTGGCTTAAGCT 0.403 Kartagener_syndrome 119 24 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42011972 42011972 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:42011972G>A uc011kbh.1 - 13 2158 c.2067C>T c.(2065-2067)TGC>TGT p.C689C GLI3_uc011kbg.1_Silent_p.C630C NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 689 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCACCTGGAGGCATTCTTCCC 0.562 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 14 466 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70853220 70853220 + Splice_Site SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:70853220G>T uc003tvy.2 + 3 423 c.423_splice c.e3-1 p.K141_splice WBSCR17_uc003tvz.2_Splice_Site NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCCTTCCCCAGGTGTAAGGAG 0.517 95 92 --- --- --- --- PASS STEAP4 79689 broad.mit.edu 37 7 87912145 87912145 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:87912145A>G uc003ujs.2 - 3 900 c.795T>C c.(793-795)GCT>GCC p.A265A STEAP4_uc010lek.2_Intron|STEAP4_uc003ujt.2_Silent_p.A265A NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 265 Ferric oxidoreductase.|Helical; (Potential). fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GTAGAATGGCAGCAATAACAC 0.453 86 14 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95751027 95751027 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:95751027C>A uc003uof.3 - 17 1972 c.1781G>T c.(1780-1782)GGT>GTT p.G594V SLC25A13_uc003uog.3_Missense_Mutation_p.G595V|SLC25A13_uc011kik.1_Missense_Mutation_p.G486V NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 594 Solcar 3.|Helical; Name=6; (Potential). ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) CAAAGTTACACCAAACTGGGG 0.353 158 43 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 7 100607765 100607765 + RNA SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:100607765G>T uc003uxk.1 + 4 c.2296G>T uc003uxl.1_Missense_Mutation_p.D538Y|uc003uxm.1_Intron|uc003uxn.1_Intron|uc010lhn.1_5'Flank Homo sapiens MUC3B mRNA for intestinal mucin, partial cds. CATCGTGGTGGACTACCTGGT 0.607 85 173 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103206680 103206680 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:103206680C>T uc003vca.2 - 33 5087 c.4927G>A c.(4927-4929)GAA>AAA p.E1643K RELN_uc010liz.2_Missense_Mutation_p.E1643K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1643 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCTATGTTTTCAGTGAATATC 0.348 9 99 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107342503 107342503 + Splice_Site SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:107342503G>A uc003vep.2 + 17 2258 c.2034_splice c.e17+1 p.V678_splice SLC26A4_uc011kmb.1_Splice_Site_p.V265_splice|SLC26A4_uc011kmc.1_Splice_Site_p.V239_splice|SLC26A4_uc011kmd.1_Splice_Site_p.V247_splice NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 ACTGCGGGTGGTAAGGTTCTG 0.438 Pendred_syndrome 43 8 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119914821 119914821 + Silent SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:119914821G>C uc003vjj.1 + 1 1100 c.135G>C c.(133-135)CTG>CTC p.L45L NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 45 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TCATTGTGCTGAATGTGAGTG 0.602 8 443 --- --- --- --- PASS CUL1 8454 broad.mit.edu 37 7 148484186 148484186 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr7:148484186G>A uc010lpg.2 + 13 1979 c.1453G>A c.(1453-1455)GAA>AAA p.E485K CUL1_uc003wey.2_Missense_Mutation_p.E485K|CUL1_uc003wez.2_Missense_Mutation_p.E375K|CUL1_uc003wfa.2_Missense_Mutation_p.E146K NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 485 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGACGATGCCGAAGCCAGCAT 0.398 76 24 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9413685 9413685 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:9413685G>T uc003wss.2 + 1 241 c.236G>T c.(235-237)CGA>CTA p.R79L TNKS_uc011kwv.1_Missense_Mutation_p.R79L|uc003wsr.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 79 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) GACAGGCCCCGATCCCCGGAC 0.701 31 13 --- --- --- --- PASS STC1 6781 broad.mit.edu 37 8 23702537 23702537 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:23702537C>G uc003xdw.1 - 4 774 c.490G>C c.(490-492)GTC>CTC p.V164L NM_003155 NP_003146 P52823 STC1_HUMAN stanniocalcin 1 precursor 164 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity skin(3)|upper_aerodigestive_tract(1) 4 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) AGGCTTCGGACAAGTCTGTTA 0.522 58 30 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41806877 41806877 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:41806877G>A uc010lxb.2 - 11 2147 c.1603C>T c.(1603-1605)CCC>TCC p.P535S MYST3_uc010lxc.2_Missense_Mutation_p.P535S|MYST3_uc003xon.3_Missense_Mutation_p.P535S|MYST3_uc010lxd.2_Missense_Mutation_p.P535S NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 535 Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.|Catalytic.|Interaction with RUNX1-1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) TACAATTTGGGCAGCCTGTAA 0.348 17 29 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43155765 43155765 + Silent SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:43155765A>T uc003xpz.1 + 4 736 c.693A>T c.(691-693)GGA>GGT p.G231G POTEA_uc003xqa.1_Silent_p.G231G NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 231 ANK 5. ovary(1) 1 ATAGGTTTGGAAGGTATAGTT 0.308 46 55 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56015461 56015461 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:56015461T>A uc003xsf.2 + 1 445 c.413T>A c.(412-414)CTG>CAG p.L138Q NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 138 integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) GACTACTACCTGCGCGGCCAG 0.642 41 80 --- --- --- --- PASS XKR4 114786 broad.mit.edu 37 8 56435884 56435884 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:56435884G>T uc003xsf.2 + 3 1083 c.1051G>T c.(1051-1053)GCC>TCC p.A351S NM_052898 NP_443130 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related 351 Helical; (Potential). integral to membrane pancreas(2) 2 Epithelial(17;0.000117)|all cancers(17;0.000836) CTGGGCCTTGGCCTCCTACCA 0.567 20 32 --- --- --- --- PASS PRDM14 63978 broad.mit.edu 37 8 70981880 70981880 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:70981880C>A uc003xym.2 - 2 418 c.216G>T c.(214-216)CGG>CGT p.R72R NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GAGGCGCCATCCGGAAGGGGA 0.657 4 5 --- --- --- --- PASS REXO1L1 254958 broad.mit.edu 37 8 86573743 86573743 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:86573743G>C uc011lfw.1 - 1 1526 c.1480C>G c.(1480-1482)CCA>GCA p.P494A NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 662 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 CGGTGGCGTGGCTGGATCTGG 0.677 7 77 --- --- --- --- PASS STK3 6788 broad.mit.edu 37 8 99560267 99560267 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:99560267C>T uc003yip.2 - 9 1212 c.1071G>A c.(1069-1071)ATG>ATA p.M357I STK3_uc003yio.2_Missense_Mutation_p.M385I|STK3_uc010mbm.1_Missense_Mutation_p.M246I NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 357 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) CGGATTCCAACATCGTGCTAT 0.453 24 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113326668 113326668 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:113326668C>A uc003ynu.2 - 48 7698 c.7539G>T c.(7537-7539)CAG>CAT p.Q2513H CSMD3_uc003yns.2_Missense_Mutation_p.Q1715H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q2473H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2409H|CSMD3_uc003ynw.1_Missense_Mutation_p.Q224H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2513 CUB 14.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATCATACACCTGAAGAACAT 0.318 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 44 78 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113649188 113649188 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:113649188A>G uc003ynu.2 - 22 3732 c.3573T>C c.(3571-3573)GGT>GGC p.G1191G CSMD3_uc003yns.2_Silent_p.G463G|CSMD3_uc003ynt.2_Silent_p.G1151G|CSMD3_uc011lhx.1_Silent_p.G1087G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1191 Sushi 6.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CGATTCGACTACCATATTGAG 0.443 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 58 82 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113933931 113933931 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:113933931C>A uc003ynu.2 - 10 1717 c.1558G>T c.(1558-1560)GGC>TGC p.G520C CSMD3_uc003ynt.2_Missense_Mutation_p.G480C|CSMD3_uc011lhx.1_Missense_Mutation_p.G416C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 520 Extracellular (Potential).|Sushi 2. 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 CTCTTTGCGCCCTGTAGGACA 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 48 72 --- --- --- --- PASS RAD21 5885 broad.mit.edu 37 8 117859849 117859849 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:117859849T>C uc003yod.2 - 14 2074 c.1786A>G c.(1786-1788)AAG>GAG p.K596E NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 596 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) CTGTAGAACTTTGCGGCAGCT 0.423 6 140 --- --- --- --- PASS OC90 729330 broad.mit.edu 37 8 133041424 133041424 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:133041424C>A uc003ytg.2 - 12 1034 c.1034G>T c.(1033-1035)TGC>TTC p.C345F OC90_uc011lix.1_Missense_Mutation_p.C345F NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 361 Phospholipase A2-like 2. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GGACAAGCAGCACCTAAGACC 0.552 22 66 --- --- --- --- PASS LRRC6 23639 broad.mit.edu 37 8 133637629 133637629 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:133637629T>C uc003ytk.2 - 6 799 c.725A>G c.(724-726)AAC>AGC p.N242S LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 242 Missing (in Ref. 1; AAB02976). cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ATCTTCACTGTTGTCTAATTT 0.388 34 43 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164776 139164776 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:139164776G>T uc003yuy.2 - 13 2113 c.1942C>A c.(1942-1944)CTG>ATG p.L648M FAM135B_uc003yux.2_Missense_Mutation_p.L549M|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L210M|FAM135B_uc003yvb.2_Missense_Mutation_p.L210M NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 648 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGCTCCCTCAGGGTAGAACTT 0.483 HNSCC(54;0.14) 49 79 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139658919 139658919 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:139658919C>A uc003yvd.2 - 47 3901 c.3454G>T c.(3454-3456)GCT>TCT p.A1152S COL22A1_uc011ljo.1_Missense_Mutation_p.A432S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1152 Pro-rich.|Gly-rich.|Collagen-like 10. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGAGGCCCAGCCTCTCCCTGT 0.512 HNSCC(7;0.00092) 4 9 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139697541 139697541 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:139697541T>A uc003yvd.2 - 38 3324 c.2877A>T c.(2875-2877)GAA>GAT p.E959D COL22A1_uc011ljo.1_Missense_Mutation_p.E259D NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 959 Pro-rich.|Gly-rich.|Collagen-like 8. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGCTGCCTTCTTCCCCCGCTG 0.572 HNSCC(7;0.00092) 48 73 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145002096 145002096 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr8:145002096C>T uc003zaf.1 - 26 3906 c.3736G>A c.(3736-3738)GAG>AAG p.E1246K PLEC_uc003zab.1_Missense_Mutation_p.E1109K|PLEC_uc003zac.1_Missense_Mutation_p.E1113K|PLEC_uc003zad.2_Missense_Mutation_p.E1109K|PLEC_uc003zae.1_Missense_Mutation_p.E1077K|PLEC_uc003zag.1_Missense_Mutation_p.E1087K|PLEC_uc003zah.2_Missense_Mutation_p.E1095K|PLEC_uc003zaj.2_Missense_Mutation_p.E1136K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 1246 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 AGCTGCTCCTCGTGGGCCCTG 0.677 13 15 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14776177 14776177 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:14776177C>A uc003zlm.2 - 25 5057 c.4467G>T c.(4465-4467)CGG>CGT p.R1489R FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Silent_p.R25R NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1489 CSPG 11. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CGTGCTCGGTCCGCAGTCCAT 0.527 27 14 --- --- --- --- PASS PIP5K1B 8395 broad.mit.edu 37 9 71503911 71503911 + Silent SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:71503911T>C uc004agu.2 + 7 638 c.333T>C c.(331-333)AGT>AGC p.S111S PIP5K1B_uc011lrq.1_Silent_p.S111S|PIP5K1B_uc004agv.2_RNA NM_003558 NP_003549 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 111 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding stomach(1) 1 Lung(182;0.133) CCATCTGCAGTGAACCTCTAA 0.378 76 111 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79938034 79938034 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:79938034G>C uc004akr.2 + 45 6142 c.5882G>C c.(5881-5883)CGA>CCA p.R1961P VPS13A_uc004akp.3_Missense_Mutation_p.R1961P|VPS13A_uc004akq.3_Missense_Mutation_p.R1961P|VPS13A_uc004aks.2_Missense_Mutation_p.R1922P|VPS13A_uc004akt.2_Missense_Mutation_p.R301P NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 1961 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 AAAGTGGGACGACGTCTGTAC 0.343 28 41 --- --- --- --- PASS ZNF483 158399 broad.mit.edu 37 9 114304857 114304857 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:114304857G>C uc004bff.2 + 6 1866 c.1642G>C c.(1642-1644)GAA>CAA p.E548Q ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 548 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 TCATACTGGAGAAAAACCCTA 0.373 22 96 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117849375 117849375 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:117849375G>A uc004bjj.3 - 3 997 c.635C>T c.(634-636)ACG>ATG p.T212M TNC_uc010mvf.2_Missense_Mutation_p.T212M NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 212 EGF-like 2. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTCCTCGCCCGTGAAGCCGTC 0.612 4 139 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 118950117 118950117 + Missense_Mutation SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:118950117A>C uc004bjn.2 + 2 1481 c.1100A>C c.(1099-1101)AAC>ACC p.N367T PAPPA_uc011lxp.1_Missense_Mutation_p.N160T|PAPPA_uc011lxq.1_Missense_Mutation_p.N160T NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 367 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GATCATAAGAACCCGACGGTG 0.562 4 71 --- --- --- --- PASS TRAF1 7185 broad.mit.edu 37 9 123688260 123688260 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:123688260C>G uc004bku.1 - 2 666 c.94G>C c.(94-96)GAG>CAG p.E32Q TRAF1_uc010mvl.1_Missense_Mutation_p.E32Q NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 32 apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding skin(2)|ovary(1) 3 GCCCTGGGCTCCTTTGGGTCC 0.647 22 46 --- --- --- --- PASS RXRA 6256 broad.mit.edu 37 9 137320990 137320990 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:137320990G>T uc004cfb.2 + 7 1109 c.947G>T c.(946-948)CGC>CTC p.R316L RXRA_uc004cfc.1_Missense_Mutation_p.R219L NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 316 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) TTCTCCCACCGCTCCATCGCC 0.682 83 171 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139404224 139404224 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:139404224C>T uc004chz.2 - 18 2930 c.2930G>A c.(2929-2931)GGG>GAG p.G977E NOTCH1_uc004cia.1_Missense_Mutation_p.G207E NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 977 Extracellular (Potential).|EGF-like 25; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACAGTGGATCCCGCTGAAGCC 0.657 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 90 135 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139404225 139404225 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr9:139404225C>A uc004chz.2 - 18 2929 c.2929G>T c.(2929-2931)GGG>TGG p.G977W NOTCH1_uc004cia.1_Missense_Mutation_p.G207W NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 977 Extracellular (Potential).|EGF-like 25; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CAGTGGATCCCGCTGAAGCCT 0.657 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 90 137 --- --- --- --- PASS KIAA1217 56243 broad.mit.edu 37 10 24727407 24727407 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr10:24727407G>T uc001iru.3 + 5 1248 c.845G>T c.(844-846)AGG>ATG p.R282M KIAA1217_uc001irs.2_Missense_Mutation_p.R202M|KIAA1217_uc001irt.3_Missense_Mutation_p.R282M|KIAA1217_uc010qcy.1_Missense_Mutation_p.R282M|KIAA1217_uc010qcz.1_Missense_Mutation_p.R282M|KIAA1217_uc001irv.1_Missense_Mutation_p.R132M|KIAA1217_uc010qda.1_RNA NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 282 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 GGAGACATGAGGGTAAGTGTT 0.408 51 73 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26414384 26414384 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr10:26414384G>T uc001isn.2 + 19 2321 c.1961G>T c.(1960-1962)TGT>TTT p.C654F MYO3A_uc009xko.1_Missense_Mutation_p.C654F|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 654 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 ACCTCCCACTGTGTGGTCACT 0.418 68 91 --- --- --- --- PASS ANKRD22 118932 broad.mit.edu 37 10 90591649 90591649 + Missense_Mutation SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr10:90591649A>C uc001kfj.3 - 2 524 c.156T>G c.(154-156)CAT>CAG p.H52Q NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 52 ANK 1. 0 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) CGATTCTCACATGCCCTCGCC 0.458 154 100 --- --- --- --- PASS CARS 833 broad.mit.edu 37 11 3022364 3022364 + Nonsense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:3022364G>A uc001lxh.2 - 22 2301 c.2227C>T c.(2227-2229)CAG>TAG p.Q743* CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Nonsense_Mutation_p.Q733*|CARS_uc001lxf.2_Nonsense_Mutation_p.Q826*|CARS_uc001lxg.2_3'UTR|CARS_uc010qxo.1_3'UTR|CARS_uc010qxp.1_3'UTR NM_001751 NP_001742 P49589 SYCC_HUMAN cysteinyl-tRNA synthetase isoform b 743 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding CARS/ALK(5) soft_tissue(5)|ovary(2) 7 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTTCCATTCTGGGCCATCTGC 0.522 T ALK ALCL 101 51 --- --- --- --- PASS NAV2 89797 broad.mit.edu 37 11 19955123 19955123 + Missense_Mutation SNP G A A rs143571074 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:19955123G>A uc010rdm.1 + 8 1763 c.1402G>A c.(1402-1404)GCC>ACC p.A468T NAV2_uc001mpp.2_Missense_Mutation_p.A381T|NAV2_uc001mpr.3_Missense_Mutation_p.A445T NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 468 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 GCTGGAGGCCGCCAGTCGCAT 0.642 17 183 --- --- --- --- PASS KIF18A 81930 broad.mit.edu 37 11 28056982 28056982 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:28056982G>C uc001msc.2 - 15 2638 c.2456C>G c.(2455-2457)TCC>TGC p.S819C NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 819 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 TGCCATGTAGGATGGCACCAT 0.328 24 74 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 31086091 31086091 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:31086091A>G uc009yjk.1 - 8 929 c.860T>C c.(859-861)CTT>CCT p.L287P uc009yjl.1_Missense_Mutation_p.L215P|DCDC1_uc001msu.1_Missense_Mutation_p.L458P RecName: Full=Doublecortin domain-containing protein 5; CGTCTCCTCAAGAGAACCTTC 0.478 96 254 --- --- --- --- PASS CHRM4 1132 broad.mit.edu 37 11 46406689 46406689 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:46406689C>T uc001nct.1 - 1 1419 c.1419G>A c.(1417-1419)CGG>CGA p.R473R NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 473 Cytoplasmic (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TGCCGATGTTCCGATACTGGC 0.602 9 51 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49178342 49178342 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:49178342G>T uc001ngy.2 - 15 1811 c.1550C>A c.(1549-1551)TCT>TAT p.S517Y FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Missense_Mutation_p.S517Y|FOLH1_uc009yly.2_Missense_Mutation_p.S502Y|FOLH1_uc009ylz.2_Missense_Mutation_p.S502Y|FOLH1_uc009yma.2_Missense_Mutation_p.S209Y NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 517 NAALADase.|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) ATCATTTCCAGATCCCAATTT 0.333 48 72 --- --- --- --- PASS OR4A5 81318 broad.mit.edu 37 11 51411577 51411577 + Silent SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:51411577G>C uc001nhi.1 - 1 819 c.819C>G c.(817-819)ACC>ACG p.T273T NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GTGTGATAATGGTATAAAACA 0.323 11 61 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515751 51515751 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:51515751A>G uc010ric.1 + 1 470 c.470A>G c.(469-471)CAG>CGG p.Q157R NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCAACCATACAGATCCTCTTC 0.468 88 139 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55656477 55656477 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:55656477G>T uc010rip.1 + 5 853 c.761G>T c.(760-762)AGG>ATG p.R254M SPRYD5_uc010riq.1_Missense_Mutation_p.R111M NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 254 intracellular zinc ion binding 0 all_epithelial(135;0.226) ATATTACACAGGTGAGTGCAC 0.363 41 72 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237098 56237098 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:56237098G>T uc010rjk.1 - 1 876 c.876C>A c.(874-876)AAC>AAA p.N292K NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 292 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCACATCCTTGTTCCTCAGAC 0.393 14 47 --- --- --- --- PASS OR5M3 219482 broad.mit.edu 37 11 56237099 56237099 + Missense_Mutation SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:56237099T>G uc010rjk.1 - 1 875 c.875A>C c.(874-876)AAC>ACC p.N292T NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 292 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CACATCCTTGTTCCTCAGACT 0.393 14 47 --- --- --- --- PASS OR10W1 81341 broad.mit.edu 37 11 58034498 58034498 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:58034498G>T uc001nmq.1 - 1 1235 c.833C>A c.(832-834)CCA>CAA p.P278Q NM_207374 NP_997257 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) ATAGATAAGTGGGTTGAGCAG 0.537 57 125 --- --- --- --- PASS LPXN 9404 broad.mit.edu 37 11 58343234 58343234 + Missense_Mutation SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:58343234T>G uc001nmw.2 - 1 157 c.12A>C c.(10-12)TTA>TTC p.L4F LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Intron|LPXN_uc010rkk.1_Intron NM_004811 NP_004802 O60711 LPXN_HUMAN leupaxin isoform 2 4 LD motif 1. cell adhesion|protein complex assembly|signal transduction cytoplasm zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTCACTCACCTAACTCTTCCA 0.512 39 66 --- --- --- --- PASS TCN1 6947 broad.mit.edu 37 11 59620686 59620686 + Silent SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:59620686T>C uc001noj.2 - 8 1328 c.1230A>G c.(1228-1230)CCA>CCG p.P410P NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 410 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTGGCTCAGTGGTTCGCCTC 0.527 197 317 --- --- --- --- PASS PRPF19 27339 broad.mit.edu 37 11 60671208 60671208 + Nonsense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:60671208C>A uc001nqf.2 - 2 352 c.145G>T c.(145-147)GAG>TAG p.E49* NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 49 U-box. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 AGCTGCTCCTCGGAGAGAGGC 0.537 52 77 --- --- --- --- PASS FADS3 3995 broad.mit.edu 37 11 61643866 61643866 + Missense_Mutation SNP C A A rs144242985 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:61643866C>A uc001nsm.2 - 9 1198 c.1045G>T c.(1045-1047)GGC>TGC p.G349C FADS3_uc001nsn.2_Missense_Mutation_p.G225C NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 349 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water ovary(1)|pancreas(1) 2 TTCTCGTGGCCGATCTCCTTG 0.652 48 94 --- --- --- --- PASS CDC42BPG 55561 broad.mit.edu 37 11 64601086 64601086 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:64601086C>T uc001obs.3 - 23 2611 c.2611G>A c.(2611-2613)GGT>AGT p.G871S NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 871 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 GCAGGAAGACCTTCTGTAGAG 0.657 4 27 --- --- --- --- PASS SNX32 254122 broad.mit.edu 37 11 65618619 65618619 + Missense_Mutation SNP C T T rs147615662 byFrequency TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:65618619C>T uc001ofr.2 + 7 824 c.697C>T c.(697-699)CGC>TGC p.R233C NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B 233 cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) CCGCGTCATGCGCGCCCACAA 0.632 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 278 --- --- --- --- PASS TSGA10IP 254187 broad.mit.edu 37 11 65721060 65721060 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:65721060C>A uc001ogk.1 + 7 1206 c.1174C>A c.(1174-1176)CGG>AGG p.R392R TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 392 Potential. 0 GGCCTGGGAGCGGCAGCGGCA 0.697 76 91 --- --- --- --- PASS XRRA1 143570 broad.mit.edu 37 11 74651838 74651838 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:74651838G>A uc009yub.2 - 3 418 c.86C>T c.(85-87)CCG>CTG p.P29L XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovo.2_Intron|XRRA1_uc001ovq.3_Missense_Mutation_p.P29L|XRRA1_uc001ovp.3_Intron|XRRA1_uc001ovr.2_Intron NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 29 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 ACCTTCCTCCGGCACGCGAAG 0.502 8 19 --- --- --- --- PASS KCTD14 65987 broad.mit.edu 37 11 77727789 77727789 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:77727789C>G uc001oyw.3 - 2 643 c.618G>C c.(616-618)GCG>GCC p.A206A NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 206 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A206V(1) ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) TGTCTAGGACCGCCTTCCAGG 0.493 86 126 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106810465 106810465 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:106810465G>T uc001pjg.1 - 4 1317 c.927C>A c.(925-927)ACC>ACA p.T309T GUCY1A2_uc010rvo.1_Silent_p.T309T|GUCY1A2_uc009yxn.1_Silent_p.T309T NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 309 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GAACTTGGGAGGTTCCCTGTG 0.433 30 38 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106810466 106810466 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:106810466G>T uc001pjg.1 - 4 1316 c.926C>A c.(925-927)ACC>AAC p.T309N GUCY1A2_uc010rvo.1_Missense_Mutation_p.T309N|GUCY1A2_uc009yxn.1_Missense_Mutation_p.T309N NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 309 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AACTTGGGAGGTTCCCTGTGG 0.433 29 38 --- --- --- --- PASS BCL9L 283149 broad.mit.edu 37 11 118769595 118769595 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:118769595G>A uc001pug.2 - 8 4994 c.4029C>T c.(4027-4029)CCC>CCT p.P1343P BCL9L_uc009zal.2_Silent_p.P1338P NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1343 Pro-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TCTCGCTCTTGGGGAAGTACT 0.612 59 98 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121061508 121061508 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:121061508C>A uc010rzo.1 + 23 6461 c.6461C>A c.(6460-6462)ACC>AAC p.T2154N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 2154 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCAGGCACGACCTCATAATTA 0.358 26 52 --- --- --- --- PASS FLI1 2313 broad.mit.edu 37 11 128638130 128638130 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:128638130C>T uc010sbu.1 + 3 689 c.348C>T c.(346-348)AAC>AAT p.N116N FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Silent_p.N83N|FLI1_uc009zci.2_Silent_p.N50N|FLI1_uc001qen.2_Silent_p.N83N NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 116 PNT. hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CTCCTCCCAACATGACCACCA 0.597 T EWSR1 Ewing sarcoma 23 42 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132205014 132205014 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:132205014G>T uc001qgp.2 + 7 1673 c.1009G>T c.(1009-1011)GTC>TTC p.V337F NTM_uc001qgm.2_Missense_Mutation_p.V337F|NTM_uc010sch.1_Missense_Mutation_p.V339F|NTM_uc010sci.1_Missense_Mutation_p.V348F|NTM_uc010scj.1_Missense_Mutation_p.V296F|NTM_uc001qgq.2_Missense_Mutation_p.V348F|NTM_uc001qgr.2_Missense_Mutation_p.V119F NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 337 cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GCCTCTTCTGGTCTTGCACCT 0.612 23 180 --- --- --- --- PASS GLB1L3 112937 broad.mit.edu 37 11 134182735 134182735 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:134182735G>T uc009zdf.2 + 15 1814 c.1454G>T c.(1453-1455)GGG>GTG p.G485V GLB1L3_uc001qho.3_RNA NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN galactosidase, beta 1 like 3 485 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds pancreas(1) 1 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) ACAATGATAGGGATTCTGAAT 0.517 11 16 --- --- --- --- PASS SYT10 341359 broad.mit.edu 37 12 33560269 33560269 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:33560269G>A uc001rll.1 - 3 829 c.532C>T c.(532-534)CTG>TTG p.L178L SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 178 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TGCCTCGGCAGGTGTCTTCGG 0.428 6 170 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48272874 48272874 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:48272874G>A uc001rqm.2 - 4 305 c.23C>T c.(22-24)ACT>ATT p.T8I VDR_uc001rql.2_Missense_Mutation_p.T58I|VDR_uc001rqn.2_Missense_Mutation_p.T8I|VDR_uc010slq.1_5'UTR NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 8 decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) AGGCAGGGAAGTGCTGGCCGC 0.607 33 65 --- --- --- --- PASS SILV 6490 broad.mit.edu 37 12 56351335 56351335 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:56351335A>T uc001sip.2 - 6 783 c.752T>A c.(751-753)CTG>CAG p.L251Q SILV_uc001siq.2_Missense_Mutation_p.L251Q|SILV_uc010spx.1_Missense_Mutation_p.L165Q|SILV_uc001sir.2_Missense_Mutation_p.L251Q NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 251 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 AGCTTCAGCCAGATAGCCACT 0.567 94 137 --- --- --- --- PASS SLC24A6 80024 broad.mit.edu 37 12 113758149 113758149 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:113758149C>A uc001tvc.2 - 7 891 c.681G>T c.(679-681)CTG>CTT p.L227L SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 227 Helical; Name=5; (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 GAGCCCATGCCAGGGTGACCC 0.612 115 186 --- --- --- --- PASS RFC5 5985 broad.mit.edu 37 12 118465787 118465787 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:118465787T>A uc001twq.2 + 9 948 c.823T>A c.(823-825)TTG>ATG p.L275M RFC5_uc010syx.1_Missense_Mutation_p.L254M|RFC5_uc010syy.1_Missense_Mutation_p.L254M|RFC5_uc010syz.1_Missense_Mutation_p.L190M|RFC5_uc009zwr.2_Missense_Mutation_p.L272M NM_007370 NP_031396 P40937 RFC5_HUMAN replication factor C 5 isoform 1 275 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGAAGGGGTTGGCACTGCA 0.428 71 100 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26145830 26145830 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:26145830G>A uc001uqk.2 + 18 1804 c.1662G>A c.(1660-1662)GCG>GCA p.A554A ATP8A2_uc010tdi.1_Silent_p.A514A|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.A64A|ATP8A2_uc001uql.1_Silent_p.A514A NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 514 Cytoplasmic (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) TCATAGAAGCGGTGAGTAACA 0.423 83 118 --- --- --- --- PASS CDX2 1045 broad.mit.edu 37 13 28542705 28542705 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:28542705G>T uc001urv.2 - 1 613 c.439C>A c.(439-441)CCC>ACC p.P147T NM_001265 NP_001256 Q99626 CDX2_HUMAN caudal type homeobox 2 147 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) GTGGCGGCGGGCCCAGGAGGG 0.612 T ETV6 AML 15 16 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28608124 28608124 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:28608124C>A uc001urw.2 - 15 1924 c.1842G>T c.(1840-1842)AAG>AAT p.K614N FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K614N NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 614 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.G613_K614ins17(2)|p.G613_K614ins16(2)|p.G613_K614ins28(1)|p.K614K(1)|p.K614_V615ins15(1)|p.G613_K614ins22(1)|p.G613_K614ins23(1)|p.G613_K614ins15(1)|p.G613_K614ins33(1)|p.K614_V615ins35(1)|p.K614_V615ins36(1)|p.K614_V615ins30(1) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATCCTAGTACCTTCCCTGCAA 0.403 Mis|O AML|ALL 116 170 --- --- --- --- PASS FLT1 2321 broad.mit.edu 37 13 29041090 29041090 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:29041090G>C uc001usb.3 - 3 623 c.338C>G c.(337-339)CCT>CGT p.P113R FLT1_uc010aar.1_Missense_Mutation_p.P113R|FLT1_uc001usc.3_Missense_Mutation_p.P113R|FLT1_uc010tdp.1_Missense_Mutation_p.P113R|FLT1_uc001usd.2_Missense_Mutation_p.P113R NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 113 Ig-like C2-type 1.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTTTGAAGTAGGTACAGCTAG 0.378 57 78 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39448720 39448720 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:39448720C>G uc001uwv.2 + 18 8587 c.8278C>G c.(8278-8280)CCC>GCC p.P2760A NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2760 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GCTGTCACATCCCGGTAAGCC 0.488 44 97 --- --- --- --- PASS LCP1 3936 broad.mit.edu 37 13 46733098 46733098 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:46733098A>T uc001vaz.3 - 3 217 c.91T>A c.(91-93)TTC>ATC p.F31I LCP1_uc001vba.3_Missense_Mutation_p.F31I NM_002298 NP_002289 P13796 PLSL_HUMAN L-plastin 31 1 (By similarity).|EF-hand 1. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding lung(4)|ovary(3) 7 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) AACTCATTGAAGCTGATGTAT 0.433 T BCL6 NHL 91 127 --- --- --- --- PASS FNDC3A 22862 broad.mit.edu 37 13 49772213 49772213 + Silent SNP A C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:49772213A>C uc001vcm.2 + 22 2891 c.2586A>C c.(2584-2586)ATA>ATC p.I862I FNDC3A_uc001vcn.2_Silent_p.I862I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Silent_p.I806I NM_001079673 NP_001073141 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 862 Fibronectin type-III 7. Golgi membrane|integral to membrane lung(2) 2 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) TTCAAGAAATAAGCGATGATG 0.463 5 139 --- --- --- --- PASS HNRNPA1L2 144983 broad.mit.edu 37 13 53217180 53217180 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:53217180G>C uc001vgx.1 + 7 1626 c.553G>C c.(553-555)GAG>CAG p.E185Q HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.E185Q|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.E185Q NM_001011724 NP_001011724 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 185 Globular B domain. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding 0 GCCAAAGCAAGAGATGGCTAG 0.353 3 99 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111138064 111138064 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:111138064G>T uc001vqx.2 + 34 3377 c.3088G>T c.(3088-3090)GGC>TGC p.G1030C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1030 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGGAGGCCCGGCCACATCAA 0.622 49 87 --- --- --- --- PASS ARHGEF7 8874 broad.mit.edu 37 13 111926211 111926211 + Missense_Mutation SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:111926211T>C uc001vrs.2 + 11 1437 c.1187T>C c.(1186-1188)ATT>ACT p.I396T ARHGEF7_uc001vrr.2_Missense_Mutation_p.I375T|ARHGEF7_uc001vrt.2_Missense_Mutation_p.I346T|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vru.1_Missense_Mutation_p.I218T|ARHGEF7_uc001vrv.3_Missense_Mutation_p.I218T|ARHGEF7_uc001vrw.3_Missense_Mutation_p.I218T|ARHGEF7_uc001vrx.3_Missense_Mutation_p.I218T|ARHGEF7_uc010tjo.1_Missense_Mutation_p.I293T|ARHGEF7_uc010tjp.1_Missense_Mutation_p.I140T|ARHGEF7_uc010agn.1_Missense_Mutation_p.I140T NM_001113511 NP_001106983 Q14155 ARHG7_HUMAN PAK-interacting exchange factor beta isoform c 396 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) AGCCCTGGGATTCTCGTGCTG 0.552 55 80 --- --- --- --- PASS ATP11A 23250 broad.mit.edu 37 13 113473630 113473630 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:113473630G>A uc001vsi.3 + 7 671 c.583G>A c.(583-585)GTC>ATC p.V195I ATP11A_uc001vsj.3_Missense_Mutation_p.V195I|ATP11A_uc001vsm.1_Missense_Mutation_p.V71I NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 195 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GCATTACGCGGTCCAGGACAC 0.557 55 90 --- --- --- --- PASS F7 2155 broad.mit.edu 37 13 113773306 113773306 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr13:113773306G>C uc001vsv.2 + 9 1436 c.1385G>C c.(1384-1386)CGA>CCA p.R462P F7_uc001vsw.2_Missense_Mutation_p.R440P|F7_uc010tjt.1_Missense_Mutation_p.R393P NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 462 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GTCCTCCTGCGAGCCCCATTT 0.587 35 52 --- --- --- --- PASS POTEG 404785 broad.mit.edu 37 14 19553635 19553635 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:19553635G>A uc001vuz.1 + 1 271 c.219G>A c.(217-219)AGG>AGA p.R73R POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 73 ovary(1) 1 CCTGGTGCAGGGGGAGCAGCA 0.582 181 215 --- --- --- --- PASS OR4N2 390429 broad.mit.edu 37 14 20295985 20295985 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:20295985C>G uc010tkv.1 + 1 378 c.378C>G c.(376-378)ATC>ATG p.I126M NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 126 Cytoplasmic (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) ACATCGCCATCTGCCGGCCTC 0.522 40 216 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404636 20404636 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:20404636C>T uc001vwj.1 + 1 811 c.811C>T c.(811-813)CTT>TTT p.L271F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 271 Helical; Name=7; (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) GGACAAATTTCTTTCTGTGTT 0.418 84 96 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89192897 89192897 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:89192897A>G uc001xxg.2 - 9 1361 c.1175T>C c.(1174-1176)GTA>GCA p.V392A NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 392 cytoplasm|microtubule ovary(3) 3 TACTCTAAGTACAGTGAATGA 0.353 11 21 --- --- --- --- PASS TCL1A 8115 broad.mit.edu 37 14 96178685 96178685 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:96178685C>T uc001yfc.3 - 2 299 c.169G>A c.(169-171)GTC>ATC p.V57I TCL1A_uc001yfb.3_Missense_Mutation_p.V57I NM_001098725 NP_001092195 P56279 TCL1A_HUMAN T-cell leukemia/lymphoma 1A 57 multicellular organismal development endoplasmic reticulum|microsome lung(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) CTCCCCAGGACGACGTCTTCC 0.562 T TRA@ T-CLL 60 90 --- --- --- --- PASS CCNK 8812 broad.mit.edu 37 14 99961958 99961958 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:99961958G>A uc001ygi.3 + 4 533 c.403G>A c.(403-405)GAC>AAC p.D135N CCNK_uc001ygg.3_Missense_Mutation_p.D135N NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 135 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) GTTTGGAGATGACCCAAAGGT 0.383 138 174 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107169953 107169953 + RNA SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr14:107169953G>A uc010tyt.1 - 39 c.2834C>T Parts of antibodies, mostly variable regions. 0 ATACACGGCCGTGTCCTCAGA 0.557 15 682 --- --- --- --- PASS CYFIP1 23191 broad.mit.edu 37 15 22940827 22940827 + Silent SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:22940827G>C uc001yus.2 + 11 1196 c.1092G>C c.(1090-1092)GCG>GCC p.A364A CYFIP1_uc001yut.2_Silent_p.A364A|CYFIP1_uc010aya.1_Silent_p.A392A NM_014608 NP_055423 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 isoform 364 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding ovary(4)|pancreas(3)|liver(1)|skin(1) 9 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CGGAGCTGGCGCGCTACAGCA 0.592 23 25 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24923727 24923727 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:24923727G>C uc001ywo.2 + 1 3187 c.2713G>C c.(2713-2715)GAT>CAT p.D905H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 905 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGGGGCCACTGATGGGCAGCA 0.502 88 95 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28506002 28506002 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:28506002C>A uc001zbj.2 - 16 2343 c.2237G>T c.(2236-2238)CGC>CTC p.R746L HERC2_uc001zbl.1_Missense_Mutation_p.R441L NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 746 RCC1 5. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTTGGTCACGCGCAAGGTGTC 0.582 14 57 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45428573 45428573 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:45428573C>G uc001zus.1 + 9 1236 c.890C>G c.(889-891)CCC>CGC p.P297R DUOX1_uc001zut.1_Missense_Mutation_p.P297R|DUOX1_uc010bee.1_5'UTR NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 297 Peroxidase-like; mediates peroxidase activity.|Extracellular (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) GAGTGGCTGCCCAGCTTCCTG 0.632 3 63 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48063212 48063212 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:48063212C>T uc010bek.2 + 19 2812 c.2452C>T c.(2452-2454)CCA>TCA p.P818S SEMA6D_uc001zvw.2_Missense_Mutation_p.P756S|SEMA6D_uc001zvy.2_Missense_Mutation_p.P818S|SEMA6D_uc001zvz.2_Missense_Mutation_p.P762S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.P756S|SEMA6D_uc001zwc.2_Missense_Mutation_p.P743S NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 818 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) ACCTCATTCCCCATTAAGTCA 0.488 48 81 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54586201 54586201 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:54586201G>T uc002ack.2 + 9 3927 c.3927G>T c.(3925-3927)CTG>CTT p.L1309L UNC13C_uc002acl.2_Silent_p.L139L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1309 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ATGATTTTCTGGGACAAACAA 0.348 85 109 --- --- --- --- PASS DENND4A 10260 broad.mit.edu 37 15 65964148 65964148 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:65964148G>A uc002aph.2 - 24 4692 c.4314C>T c.(4312-4314)TTC>TTT p.F1438F DENND4A_uc002api.2_Silent_p.F1481F NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 1438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CATAGTTCTGGAAGATATTTG 0.373 45 93 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86262337 86262337 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:86262337G>A uc002blv.1 + 23 6202 c.6032G>A c.(6031-6033)CGC>CAC p.R2011H AKAP13_uc002blu.1_Missense_Mutation_p.R2015H|AKAP13_uc010bnf.1_Missense_Mutation_p.R632H|AKAP13_uc002blw.1_Missense_Mutation_p.R476H|AKAP13_uc002blx.1_Missense_Mutation_p.R256H NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2011 Interaction with ESR1.|DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CATCATGTCCGCACTCTCAAG 0.458 4 96 --- --- --- --- PASS OR4F6 390648 broad.mit.edu 37 15 102346039 102346039 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr15:102346039G>T uc010utr.1 + 1 117 c.117G>T c.(115-117)CTG>CTT p.L39L NM_001005326 NP_001005326 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, 39 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGTCAAGCCTGATGGGAAATC 0.488 117 304 --- --- --- --- PASS C16orf11 146325 broad.mit.edu 37 16 614874 614874 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr16:614874C>A uc002chk.2 + 3 1562 c.1283C>A c.(1282-1284)GCG>GAG p.A428E NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 428 central_nervous_system(1) 1 TTGGGGCCCGCGGGGGGCCTG 0.726 10 7 --- --- --- --- PASS TPSD1 23430 broad.mit.edu 37 16 1306282 1306282 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr16:1306282A>T uc002clb.1 + 1 10 c.1A>T c.(1-3)ATG>TTG p.M1L TPSD1_uc010brm.1_5'Flank NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 1 proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CAGGCCCACGATGCTCCTCCT 0.716 36 113 --- --- --- --- PASS GNPTG 84572 broad.mit.edu 37 16 1412532 1412532 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr16:1412532C>A uc002clm.2 + 8 641 c.606C>A c.(604-606)CCC>CCA p.P202P NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN N-acetylglucosamine-1-phosphotransferase, gamma 202 extracellular region|Golgi apparatus protein binding central_nervous_system(1) 1 Hepatocellular(780;0.0893) TGATCACCCCCCAGGTAAGCG 0.662 37 12 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1814419 1814419 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr16:1814419G>T uc002cmk.2 + 19 2356 c.2236G>T c.(2236-2238)GGC>TGC p.G746C MAPK8IP3_uc002cml.2_Missense_Mutation_p.G740C|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.G747C NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 746 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CGAAGGAGACGGCGAGCCCAA 0.662 12 3 --- --- --- --- PASS VAT1L 57687 broad.mit.edu 37 16 77918563 77918563 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr16:77918563C>A uc002ffg.1 + 7 1038 c.941C>A c.(940-942)GCG>GAG p.A314E NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 314 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 AAAGTCATCGCGGGGTTTTCC 0.502 20 10 --- --- --- --- PASS PITPNM3 83394 broad.mit.edu 37 17 6380497 6380497 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:6380497C>A uc002gdd.3 - 9 1088 c.937G>T c.(937-939)GCC>TCC p.A313S PITPNM3_uc010cln.2_Missense_Mutation_p.A277S|PITPNM3_uc002gdc.3_5'UTR NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 313 Ser-rich. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) TTGCTGCTGGCCAGGCTGCAA 0.587 4 95 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578394 7578394 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:7578394T>A uc002gim.2 - 5 730 c.536A>T c.(535-537)CAT>CTT p.H179L TP53_uc002gig.1_Missense_Mutation_p.H179L|TP53_uc002gih.2_Missense_Mutation_p.H179L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47L|TP53_uc010cng.1_Missense_Mutation_p.H47L|TP53_uc002gii.1_Missense_Mutation_p.H47L|TP53_uc010cnh.1_Missense_Mutation_p.H179L|TP53_uc010cni.1_Missense_Mutation_p.H179L|TP53_uc002gij.2_Missense_Mutation_p.H179L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86L|TP53_uc002gio.2_Missense_Mutation_p.H47L|TP53_uc010vug.1_Missense_Mutation_p.H140L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) GCAGCGCTCATGGTGGGGGCA 0.642 111 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) 93 21 --- --- --- --- PASS MYH2 4620 broad.mit.edu 37 17 10450873 10450873 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:10450873C>G uc010coi.2 - 4 395 c.267G>C c.(265-267)GAG>GAC p.E89D uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E89D|MYH2_uc010coj.2_Missense_Mutation_p.E89D NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 89 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TGGCCATATCCTCGATCTTGT 0.468 97 182 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10554936 10554936 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:10554936G>C uc002gmq.1 - 4 475 c.398C>G c.(397-399)CCG>CGG p.P133R NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 133 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 GTTGTACACCGGCAGCCACTT 0.527 79 117 --- --- --- --- PASS COX10 1352 broad.mit.edu 37 17 13977644 13977644 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:13977644C>T uc002gof.3 + 2 252 c.48C>T c.(46-48)TGC>TGT p.C16C COX10_uc010vvs.1_5'UTR|COX10_uc010vvt.1_5'UTR NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 16 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) TTATAGGTTGCGTAGGAGGCT 0.418 66 121 --- --- --- --- PASS ZNF286A 57335 broad.mit.edu 37 17 15619515 15619515 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:15619515A>T uc010cot.2 + 6 873 c.477A>T c.(475-477)GAA>GAT p.E159D ZNF286A_uc002goz.3_Missense_Mutation_p.E47D|ZNF286A_uc010vwa.1_Missense_Mutation_p.E159D|ZNF286A_uc002gpa.2_Missense_Mutation_p.E159D NM_001130842 NP_001124314 Q9HBT8 Z286A_HUMAN zinc finger protein 286 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) TTGAATGTGAAAATTGGTTAG 0.388 49 83 --- --- --- --- PASS CORO6 84940 broad.mit.edu 37 17 27944061 27944061 + Splice_Site SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:27944061C>T uc002hel.2 - 6 756 c.754_splice c.e6-1 p.N252_splice CORO6_uc002hem.2_Splice_Site_p.N18_splice|CORO6_uc002hen.2_Splice_Site_p.N18_splice NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CGAAGTTGTTCTGCCCGAGCA 0.607 38 158 --- --- --- --- PASS NF1 4763 broad.mit.edu 37 17 29527583 29527583 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:29527583A>G uc002hgg.2 + 9 1365 c.1032A>G c.(1030-1032)CTA>CTG p.L344L NF1_uc002hge.1_Silent_p.L344L|NF1_uc002hgf.1_Silent_p.L344L|NF1_uc002hgh.2_Silent_p.L344L|NF1_uc010csn.1_Silent_p.L204L NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 344 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCATTTTCCTACTTGTTCAGT 0.353 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 66 96 --- --- --- --- PASS MMP28 79148 broad.mit.edu 37 17 34105972 34105972 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:34105972G>A uc002hjy.1 - 3 558 c.299C>T c.(298-300)GCG>GTG p.A100V MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.A100V NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 100 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCCCAGGCCGCATAACTGTT 0.567 4 124 --- --- --- --- PASS KLHL11 55175 broad.mit.edu 37 17 40021526 40021526 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:40021526G>A uc002hyf.1 - 1 104 c.98C>T c.(97-99)TCG>TTG p.S33L NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 33 extracellular region 0 Breast(137;0.00156) CAGTCCTGCCGAGCCGGCGGC 0.547 18 26 --- --- --- --- PASS GHDC 84514 broad.mit.edu 37 17 40345412 40345412 + Missense_Mutation SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:40345412T>G uc002hzd.2 - 2 672 c.188A>C c.(187-189)CAC>CCC p.H63P GHDC_uc002hzg.1_Missense_Mutation_p.H63P|GHDC_uc010wgg.1_Missense_Mutation_p.H63P|GHDC_uc002hze.3_Missense_Mutation_p.H63P|GHDC_uc002hzf.3_Missense_Mutation_p.H63P|GHDC_uc010cxz.2_RNA NM_032484 NP_115873 Q8N2G8 GHDC_HUMAN LGP1 homolog isoform 1 63 endoplasmic reticulum|nuclear envelope 0 all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304) BRCA - Breast invasive adenocarcinoma(366;0.124) CTGGCTCTGGTGCACATGGAG 0.677 6 17 --- --- --- --- PASS COASY 80347 broad.mit.edu 37 17 40717012 40717012 + Nonsense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:40717012A>T uc002hzz.2 + 6 1406 c.1249A>T c.(1249-1251)AAA>TAA p.K417* COASY_uc010cyj.2_Nonsense_Mutation_p.K446*|COASY_uc002iab.2_Nonsense_Mutation_p.K122*|COASY_uc002iad.2_Nonsense_Mutation_p.K417*|COASY_uc002iac.2_Nonsense_Mutation_p.K417*|COASY_uc002iae.2_Nonsense_Mutation_p.K212*|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 417 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) TATTCTCCATAAAGATGGCAT 0.502 110 127 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41246321 41246321 + Silent SNP T A A rs149349675 TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:41246321T>A uc002icq.2 - 10 1459 c.1227A>T c.(1225-1227)GTA>GTT p.V409V BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.V338V|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.V362V|BRCA1_uc002ict.2_Silent_p.V409V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.V409V|BRCA1_uc002ide.1_Silent_p.V240V|BRCA1_uc010cyy.1_Silent_p.V409V|BRCA1_uc010whs.1_Silent_p.V409V|BRCA1_uc010cyz.2_Silent_p.V362V|BRCA1_uc010cza.2_Silent_p.V383V|BRCA1_uc010wht.1_Silent_p.V113V NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 409 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ATACATCAGCTACTTTGGCAT 0.388 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 65 129 --- --- --- --- PASS SP2 6668 broad.mit.edu 37 17 45994416 45994416 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:45994416G>A uc002imk.2 + 3 1116 c.979G>A c.(979-981)GCA>ACA p.A327T SP2_uc002iml.2_Missense_Mutation_p.A320T|uc002imm.2_Intron NM_003110 NP_003101 Q02086 SP2_HUMAN Sp2 transcription factor 327 immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|histone deacetylase binding|zinc ion binding 0 GGTGCAGGCGGCATCTGCCAC 0.647 4 111 --- --- --- --- PASS MED13 9969 broad.mit.edu 37 17 60088374 60088374 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:60088374G>C uc002izo.2 - 9 1581 c.1504C>G c.(1504-1506)CCA>GCA p.P502A MED13_uc002izp.2_Missense_Mutation_p.P118A NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 502 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TGACTGTCTGGAGCAGAGATC 0.473 50 62 --- --- --- --- PASS AXIN2 8313 broad.mit.edu 37 17 63526217 63526217 + Silent SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:63526217A>G uc002jfi.2 - 11 2698 c.2409T>C c.(2407-2409)TAT>TAC p.Y803Y AXIN2_uc002jfh.2_Silent_p.Y738Y NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 803 DIX. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 TTTTGAAGTAATACCTTAAAA 0.443 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome 5 145 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71386527 71386527 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:71386527C>A uc010dfm.2 - 29 4091 c.4091G>T c.(4090-4092)GGC>GTC p.G1364V SDK2_uc002jjt.3_Missense_Mutation_p.G523V|SDK2_uc010dfn.2_Missense_Mutation_p.G1043V NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1364 Fibronectin type-III 8.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TGGCTTGAGGCCCGTGGCTGT 0.647 5 38 --- --- --- --- PASS CD300E 342510 broad.mit.edu 37 17 72613346 72613346 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr17:72613346C>A uc002jlb.1 - 2 340 c.299G>T c.(298-300)GGA>GTA p.G100V NM_181449 NP_852114 Q496F6 CLM2_HUMAN CD300e molecule precursor 100 Ig-like V-type.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(2)|large_intestine(1)|ovary(1) 4 CCAGTAAGATCCAGCATCATC 0.542 68 133 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7011410 7011410 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:7011410C>A uc002knm.2 - 25 3670 c.3576G>T c.(3574-3576)GAG>GAT p.E1192D LAMA1_uc010wzj.1_Missense_Mutation_p.E668D NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1192 Laminin IV type A 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTAAACCCCCTCGGTCGTGC 0.607 10 12 --- --- --- --- PASS ZNF519 162655 broad.mit.edu 37 18 14105676 14105676 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:14105676C>A uc002kst.1 - 3 1016 c.863G>T c.(862-864)GGA>GTA p.G288V ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron NM_145287 NP_660330 Q8TB69 ZN519_HUMAN zinc finger protein 519 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGGTTTCTCTCCAGTATGAAT 0.368 52 77 --- --- --- --- PASS KIAA1328 57536 broad.mit.edu 37 18 34647324 34647324 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:34647324G>A uc002kzz.2 + 7 1070 c.1048G>A c.(1048-1050)GGG>AGG p.G350R KIAA1328_uc002lab.2_Missense_Mutation_p.G66R|KIAA1328_uc002lac.1_Missense_Mutation_p.G173R|KIAA1328_uc010dnc.1_RNA|KIAA1328_uc002lad.2_Missense_Mutation_p.G66R NM_020776 NP_065827 Q86T90 K1328_HUMAN hypothetical protein LOC57536 350 central_nervous_system(1) 1 COAD - Colon adenocarcinoma(74;0.195) GCATGGTGGTGGGGCACTGCA 0.453 18 22 --- --- --- --- PASS SLC14A1 6563 broad.mit.edu 37 18 43310350 43310350 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:43310350T>A uc010xcn.1 + 4 384 c.65T>A c.(64-66)GTT>GAT p.V22D SLC14A1_uc010dnk.2_Missense_Mutation_p.V78D|SLC14A1_uc002lbf.3_Missense_Mutation_p.V22D|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.V78D|SLC14A1_uc002lbk.3_Missense_Mutation_p.V22D NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 22 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 GAAAACCAGGTTTCGCCATGT 0.507 9 100 --- --- --- --- PASS SLC14A1 6563 broad.mit.edu 37 18 43329813 43329813 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:43329813A>G uc010xcn.1 + 11 1386 c.1067A>G c.(1066-1068)AAT>AGT p.N356S SLC14A1_uc010dnk.2_Missense_Mutation_p.N412S|SLC14A1_uc002lbf.3_Missense_Mutation_p.N356S|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.N251S|SLC14A1_uc002lbh.3_Missense_Mutation_p.N248S|SLC14A1_uc002lbi.3_Missense_Mutation_p.N224S|SLC14A1_uc002lbj.3_Missense_Mutation_p.N412S|SLC14A1_uc002lbk.3_Missense_Mutation_p.N356S NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 356 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 ACCACAAAAAATTCCAACATC 0.468 5 173 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56202301 56202301 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:56202301C>G uc002lhj.3 - 5 5332 c.5118G>C c.(5116-5118)ACG>ACC p.T1706T ALPK2_uc002lhk.1_Silent_p.T1037T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1706 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CCTCTGACCCCGTCACTGCTG 0.572 72 102 --- --- --- --- PASS SERPINB2 5055 broad.mit.edu 37 18 61570215 61570215 + Nonsense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:61570215C>G uc010xeu.1 + 9 1257 c.924C>G c.(922-924)TAC>TAG p.Y308* SERPINB2_uc002ljo.2_Nonsense_Mutation_p.Y308*|SERPINB2_uc010dqh.2_Nonsense_Mutation_p.Y238*|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron NM_001143818 NP_001137290 P05120 PAI2_HUMAN serine (or cysteine) proteinase inhibitor, clade 308 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity lung(1)|skin(1) 2 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TTGAGGTATACATACCCCAGT 0.403 26 53 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63477136 63477136 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr18:63477136A>G uc002ljz.2 + 3 732 c.407A>G c.(406-408)GAG>GGG p.E136G CDH7_uc002lka.2_Missense_Mutation_p.E136G|CDH7_uc002lkb.2_Missense_Mutation_p.E136G NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 136 Extracellular (Potential).|Cadherin 1. 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) GTGGAGCCCGAGTCGGAGTTT 0.522 80 107 --- --- --- --- PASS ARRDC5 645432 broad.mit.edu 37 19 4891305 4891305 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:4891305C>G uc002mbm.2 - 3 782 c.782G>C c.(781-783)CGC>CCC p.R261P NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 261 signal transduction 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) GGTGTTGAAGCGGGTCACGGG 0.627 19 97 --- --- --- --- PASS PTPRS 5802 broad.mit.edu 37 19 5212481 5212481 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:5212481C>T uc002mbv.2 - 31 4870 c.4636G>A c.(4636-4638)GAG>AAG p.E1546K PTPRS_uc002mbu.1_Missense_Mutation_p.E1115K|PTPRS_uc010xin.1_Missense_Mutation_p.E1088K|PTPRS_uc002mbw.2_Missense_Mutation_p.E1508K|PTPRS_uc002mbx.2_Missense_Mutation_p.E1103K|PTPRS_uc002mby.2_Missense_Mutation_p.E1099K NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1546 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. E -> D (in Ref. 6; AAB21146). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGGCGGACCTCGCGTTTCTCA 0.468 6 4 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6919585 6919585 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:6919585T>A uc002mfw.2 + 13 1485 c.1447T>A c.(1447-1449)TTT>ATT p.F483I EMR1_uc010dvc.2_Missense_Mutation_p.F483I|EMR1_uc010dvb.2_Missense_Mutation_p.F431I|EMR1_uc010xji.1_Missense_Mutation_p.F342I|EMR1_uc010xjj.1_Missense_Mutation_p.F306I NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 483 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TTTTGTCTCCTTTGTGGGCAT 0.433 45 105 --- --- --- --- PASS CLEC4M 10332 broad.mit.edu 37 19 7830087 7830087 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:7830087C>T uc002mih.2 + 3 265 c.147C>T c.(145-147)GGC>GGT p.G49G CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Silent_p.G49G|CLEC4M_uc010dvs.2_Silent_p.G48G|CLEC4M_uc010xjx.1_Silent_p.G21G|CLEC4M_uc002mhz.2_Silent_p.G49G|CLEC4M_uc002mic.2_Silent_p.G21G|CLEC4M_uc002mia.2_Intron NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 49 Cytoplasmic (Probable). cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 TTGGCCATGGCGCCCTGGTGC 0.637 61 94 --- --- --- --- PASS CLEC4M 10332 broad.mit.edu 37 19 7830088 7830088 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:7830088G>C uc002mih.2 + 3 266 c.148G>C c.(148-150)GCC>CCC p.A50P CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc010xjw.1_Intron|CLEC4M_uc010dvt.2_Missense_Mutation_p.A50P|CLEC4M_uc010dvs.2_Missense_Mutation_p.A49P|CLEC4M_uc010xjx.1_Missense_Mutation_p.A22P|CLEC4M_uc002mhz.2_Missense_Mutation_p.A50P|CLEC4M_uc002mic.2_Missense_Mutation_p.A22P|CLEC4M_uc002mia.2_Intron NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 50 Helical; Signal-anchor for type II membrane protein; (Probable). cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 TGGCCATGGCGCCCTGGTGCT 0.632 61 98 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9067600 9067600 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:9067600G>C uc002mkp.2 - 3 20050 c.19846C>G c.(19846-19848)CCA>GCA p.P6616A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6618 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTTTGGGTGGTTCTGAGTAG 0.448 127 154 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9071212 9071212 + Missense_Mutation SNP T A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:9071212T>A uc002mkp.2 - 3 16438 c.16234A>T c.(16234-16236)ACA>TCA p.T5412S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5414 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T5412K(1) lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCGGCTTCTGTGTGTGCAGTG 0.502 306 323 --- --- --- --- PASS KANK2 25959 broad.mit.edu 37 19 11287340 11287340 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:11287340G>T uc010dxv.2 - 9 2232 c.1674C>A c.(1672-1674)AGC>AGA p.S558R KANK2_uc002mqm.2_Missense_Mutation_p.S566R|KANK2_uc002mqo.3_Missense_Mutation_p.S558R|KANK2_uc002mqp.1_Missense_Mutation_p.S367R NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 558 0 ACTCCTGCCGGCTGGTCTTGG 0.627 59 158 --- --- --- --- PASS RLN3 117579 broad.mit.edu 37 19 14139032 14139032 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:14139032C>A uc002mxw.1 + 1 16 c.16C>A c.(16-18)CTG>ATG p.L6M RLN3_uc010dzj.1_Missense_Mutation_p.L6M NM_080864 NP_543140 Q8WXF3 REL3_HUMAN relaxin 3 preproprotein 6 extracellular region hormone activity 0 CAGGTACATGCTGCTGCTGCT 0.637 17 72 --- --- --- --- PASS CYP4F12 66002 broad.mit.edu 37 19 15806829 15806829 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:15806829G>T uc002nbl.2 + 10 1260 c.1199G>T c.(1198-1200)CGA>CTA p.R400L NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) TTCATCTCCCGATGCTGCACC 0.612 28 107 --- --- --- --- PASS OR10H5 284433 broad.mit.edu 37 19 15905405 15905405 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:15905405C>T uc010xos.1 + 1 547 c.547C>T c.(547-549)CCT>TCT p.P183S NM_001004466 NP_001004466 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACGTGCCACCTCTGTTGAA 0.577 38 82 --- --- --- --- PASS ZNF626 199777 broad.mit.edu 37 19 20807714 20807714 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:20807714C>A uc002npb.1 - 4 1119 c.969G>T c.(967-969)AAG>AAT p.K323N ZNF626_uc002npc.1_Missense_Mutation_p.K247N NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 323 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TATAGGAGTACTTAAAGGCTT 0.388 33 105 --- --- --- --- PASS ZNF257 113835 broad.mit.edu 37 19 22256295 22256295 + Missense_Mutation SNP T G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:22256295T>G uc010ecx.2 + 3 324 c.155T>G c.(154-156)CTG>CGG p.L52R ZNF257_uc010ecy.2_Missense_Mutation_p.L20R NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCCAGACCTGATCACCTGT 0.418 33 120 --- --- --- --- PASS ZNF675 171392 broad.mit.edu 37 19 23837199 23837199 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:23837199C>G uc002nri.2 - 4 718 c.536G>C c.(535-537)AGA>ACA p.R179T NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 179 C2H2-type 2; degenerate. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) GCAAAATGATCTGCCACATTC 0.299 11 25 --- --- --- --- PASS KIAA0355 9710 broad.mit.edu 37 19 34832958 34832958 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:34832958G>A uc002nvd.3 + 10 2978 c.2119G>A c.(2119-2121)GCA>ACA p.A707T NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 707 ovary(1) 1 Esophageal squamous(110;0.162) CCAGGCTGGGGCACACACACC 0.627 74 78 --- --- --- --- PASS LIN37 55957 broad.mit.edu 37 19 36245219 36245219 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:36245219A>T uc002obm.2 + 9 772 c.658A>T c.(658-660)AGG>TGG p.R220W uc002obl.2_5'Flank NM_019104 NP_061977 Q96GY3 LIN37_HUMAN lin-37 homolog 220 protein binding 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CATCCGCCAGAGGTGAGCGTC 0.632 8 114 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36351927 36351927 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:36351927G>C uc002ocb.3 + 8 1257 c.1045G>C c.(1045-1047)GGT>CGT p.G349R KIRREL2_uc002obz.3_Missense_Mutation_p.G349R|KIRREL2_uc002oca.3_Missense_Mutation_p.G299R|KIRREL2_uc002occ.3_Missense_Mutation_p.G296R|KIRREL2_uc002ocd.3_Missense_Mutation_p.G346R NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 349 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCCGCCGCGGTGGCGCGCA 0.677 10 20 --- --- --- --- PASS ZNF566 84924 broad.mit.edu 37 19 36940468 36940468 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:36940468C>G uc002oea.3 - 5 750 c.668G>C c.(667-669)GGC>GCC p.G223A ZNF566_uc010xte.1_Missense_Mutation_p.G223A|ZNF566_uc010xtf.1_Missense_Mutation_p.G224A|ZNF566_uc002oeb.3_Missense_Mutation_p.G223A|ZNF566_uc002oec.3_Missense_Mutation_p.G119A|ZNF566_uc010xtg.1_Missense_Mutation_p.G119A NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GGGTTTCTTGCCAGTATGAAT 0.388 32 89 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37130357 37130357 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:37130357C>T uc002oem.2 - 6 1118 c.890G>A c.(889-891)GGT>GAT p.G297D ZNF461_uc002oen.2_Missense_Mutation_p.G266D|ZNF461_uc010xtj.1_Missense_Mutation_p.G274D NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGGTTTCTCACCAGTGTGAAT 0.383 3 28 --- --- --- --- PASS ZNF461 92283 broad.mit.edu 37 19 37130358 37130358 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:37130358C>G uc002oem.2 - 6 1117 c.889G>C c.(889-891)GGT>CGT p.G297R ZNF461_uc002oen.2_Missense_Mutation_p.G266R|ZNF461_uc010xtj.1_Missense_Mutation_p.G274R NM_153257 NP_694989 Q8TAF7 ZN461_HUMAN gonadotropin inducible transcription repressor 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGTTTCTCACCAGTGTGAATT 0.383 3 28 --- --- --- --- PASS PAK4 10298 broad.mit.edu 37 19 39669214 39669214 + Nonsense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:39669214A>T uc002okj.1 + 11 2232 c.1771A>T c.(1771-1773)AGA>TGA p.R591* PAK4_uc002okl.1_Nonsense_Mutation_p.R591*|PAK4_uc002okn.1_Nonsense_Mutation_p.R591*|PAK4_uc002okm.1_Nonsense_Mutation_p.R438*|PAK4_uc002oko.1_Nonsense_Mutation_p.R438*|PAK4_uc002okp.1_Nonsense_Mutation_p.R501* NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 591 cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) GAACCGCACCAGATGAGGCCC 0.716 28 31 --- --- --- --- PASS PRX 57716 broad.mit.edu 37 19 40903374 40903374 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:40903374C>A uc002onr.2 - 7 1154 c.885G>T c.(883-885)GTG>GTT p.V295V PRX_uc002onq.2_Silent_p.V156V|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 295 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CAGGCAGCTCCACCTGGGGGA 0.687 9 9 --- --- --- --- PASS MIA 8190 broad.mit.edu 37 19 41281517 41281517 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:41281517G>T uc002opb.3 + 1 218 c.70G>T c.(70-72)GGT>TGT p.G24C MIA_uc010xvt.1_RNA|RAB4B_uc002opc.1_5'Flank|RAB4B_uc002opd.1_5'Flank|RAB4B_uc002ope.1_5'Flank|EGLN2_uc010ehd.2_5'Flank NM_006533 NP_006524 Q16674 MIA_HUMAN melanoma inhibitory activity precursor 24 cell proliferation extracellular space growth factor activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) GBM - Glioblastoma multiforme(1328;0.0199) TGGTGTCAGGGGTGGTCCTAT 0.612 109 103 --- --- --- --- PASS CEACAM21 90273 broad.mit.edu 37 19 42085842 42085842 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:42085842G>A uc002ore.3 + 3 657 c.561G>A c.(559-561)ACG>ACA p.T187T CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Silent_p.T187T NM_001098506 NP_001091976 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion 187 Ig-like C2-type.|Extracellular (Potential). integral to membrane ovary(1) 1 TGCAGGTCACGAAGAGGATGA 0.532 15 36 --- --- --- --- PASS LIPE 3991 broad.mit.edu 37 19 42911519 42911519 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:42911519C>A uc002otr.2 - 6 2221 c.1944G>T c.(1942-1944)GTG>GTT p.V648V uc010eif.1_Intron NM_005357 NP_005348 Q05469 LIPS_HUMAN hormone-sensitive lipase 648 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding ovary(1)|breast(1) 2 Prostate(69;0.00682) CGTGGAAGTGCACTATCAGGG 0.662 13 29 --- --- --- --- PASS ZNF285 26974 broad.mit.edu 37 19 44891866 44891866 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:44891866G>T uc002ozd.3 - 4 628 c.541C>A c.(541-543)CAT>AAT p.H181N ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.H188N NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 CTGTCATCATGCTGAGCACGT 0.468 73 96 --- --- --- --- PASS CEACAM19 56971 broad.mit.edu 37 19 45176160 45176160 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:45176160C>G uc002ozo.3 + 2 828 c.348C>G c.(346-348)GAC>GAG p.D116E CEACAM19_uc002ozp.3_Missense_Mutation_p.D116E NM_020219 NP_064604 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion 116 Extracellular (Potential). integral to membrane 0 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) AGCCTACAGACAGTGGCACCT 0.567 6 89 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46825125 46825125 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:46825125G>T uc002peh.2 + 10 1266 c.1237G>T c.(1237-1239)GAC>TAC p.D413Y HIF3A_uc002peg.3_Missense_Mutation_p.D413Y|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D357Y|HIF3A_uc002pej.1_Missense_Mutation_p.D344Y|HIF3A_uc002pek.2_Missense_Mutation_p.D357Y|HIF3A_uc010xxy.1_Missense_Mutation_p.D344Y|HIF3A_uc002pel.2_Missense_Mutation_p.D411Y|HIF3A_uc010xxz.1_Missense_Mutation_p.D362Y NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CTGCAGCCCTGACCTCCGTCG 0.687 45 63 --- --- --- --- PASS HIF3A 64344 broad.mit.edu 37 19 46825126 46825126 + Missense_Mutation SNP A T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:46825126A>T uc002peh.2 + 10 1267 c.1238A>T c.(1237-1239)GAC>GTC p.D413V HIF3A_uc002peg.3_Missense_Mutation_p.D413V|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D357V|HIF3A_uc002pej.1_Missense_Mutation_p.D344V|HIF3A_uc002pek.2_Missense_Mutation_p.D357V|HIF3A_uc010xxy.1_Missense_Mutation_p.D344V|HIF3A_uc002pel.2_Missense_Mutation_p.D411V|HIF3A_uc010xxz.1_Missense_Mutation_p.D362V NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TGCAGCCCTGACCTCCGTCGC 0.687 45 63 --- --- --- --- PASS NUCB1 4924 broad.mit.edu 37 19 49424479 49424479 + Silent SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:49424479G>C uc002plb.3 + 11 1143 c.1071G>C c.(1069-1071)CGG>CGC p.R357R NUCB1_uc002pla.2_Silent_p.R357R|NUCB1_uc002plc.2_Silent_p.R357R|NUCB1_uc002pld.2_Silent_p.R20R NM_006184 NP_006175 Q02818 NUCB1_HUMAN nucleobindin 1 precursor 357 Potential. ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding 0 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) TGGCTGCCCGGGAGGCAGAGC 0.667 12 39 --- --- --- --- PASS FTL 2512 broad.mit.edu 37 19 49468815 49468815 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:49468815C>G uc002plo.2 + 1 250 c.51C>G c.(49-51)GTC>GTG p.V17V FTL_uc002pln.1_Silent_p.V17V NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 17 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AGGCAGCCGTCAACAGCCTGG 0.572 47 102 --- --- --- --- PASS SLC17A7 57030 broad.mit.edu 37 19 49934604 49934604 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:49934604C>T uc002pnp.2 - 10 1424 c.1252G>A c.(1252-1254)GCC>ACC p.A418T SLC17A7_uc002pno.2_Intron NM_020309 NP_064705 Q9P2U7 VGLU1_HUMAN solute carrier family 17, member 7 418 Helical; (Potential). glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity ovary(1)|pancreas(1)|skin(1) 3 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CCAGAGATGGCGAAGCCGCTG 0.622 34 80 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50796843 50796843 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:50796843C>T uc002prr.1 + 37 5292 c.5245C>T c.(5245-5247)CGT>TGT p.R1749C MYH14_uc010enu.1_Missense_Mutation_p.R1790C|MYH14_uc002prq.1_Missense_Mutation_p.R1757C|MYH14_uc010ycb.1_Missense_Mutation_p.R100C|MYH14_uc002prs.1_Missense_Mutation_p.R100C NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1749 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGGAGAAGCGTCAGCTGGA 0.617 5 30 --- --- --- --- PASS NKG7 4818 broad.mit.edu 37 19 51875032 51875032 + Silent SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:51875032C>T uc002pwj.2 - 4 668 c.497G>A c.(496-498)TGA>TAA p.*166* CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.2_Silent_p.*131* NM_005601 NP_005592 Q16617 NKG7_HUMAN natural killer cell group 7 sequence 166 integral to plasma membrane central_nervous_system(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCCTTCTGCTCACAAGGTTTC 0.587 138 351 --- --- --- --- PASS VN1R4 317703 broad.mit.edu 37 19 53770644 53770644 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:53770644C>T uc010ydu.1 - 1 275 c.275G>A c.(274-276)GGA>GAA p.G92E NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 92 Helical; Name=3; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) AATGGACACTCCCCTGCCCAC 0.498 HNSCC(26;0.072) 9 12 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54782142 54782142 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:54782142G>A uc002qfb.2 - 7 1496 c.1230C>T c.(1228-1230)CCC>CCT p.P410P LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.P410P|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.P410P|LILRB2_uc010yet.1_Silent_p.P294P|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 410 Extracellular (Potential).|Ig-like C2-type 4. 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) GGGGCTCACTGGGGTGAGACA 0.642 30 92 --- --- --- --- PASS LAIR1 3903 broad.mit.edu 37 19 54867018 54867018 + Silent SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:54867018C>A uc002qfk.1 - 10 1033 c.723G>T c.(721-723)CTG>CTT p.L241L LAIR1_uc002qfl.1_Silent_p.L224L|LAIR1_uc002qfm.1_Silent_p.L240L|LAIR1_uc002qfn.1_Silent_p.L223L|LAIR1_uc010yex.1_Silent_p.L234L|LAIR1_uc002qfo.2_Silent_p.L223L NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 241 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCCCTGCAGCCAGGGCCTAAG 0.592 52 57 --- --- --- --- PASS LAIR1 3903 broad.mit.edu 37 19 54872558 54872558 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:54872558G>T uc002qfk.1 - 3 639 c.329C>A c.(328-330)TCT>TAT p.S110Y LAIR1_uc002qfl.1_Missense_Mutation_p.S110Y|LAIR1_uc002qfm.1_Missense_Mutation_p.S109Y|LAIR1_uc002qfn.1_Missense_Mutation_p.S109Y|LAIR1_uc010yex.1_Missense_Mutation_p.S103Y|LAIR1_uc002qfo.2_Missense_Mutation_p.S92Y NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 110 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACTCTGCTCAGACCATTTAGG 0.562 53 180 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55086421 55086421 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:55086421G>A uc002qgg.3 + 4 665 c.576G>A c.(574-576)TCG>TCA p.S192S LILRA2_uc010ern.2_Silent_p.S192S|LILRA2_uc002qgf.2_Silent_p.S192S|LILRA2_uc010yfe.1_Silent_p.S192S|LILRA2_uc010yff.1_Silent_p.S180S|LILRA2_uc010ero.2_Silent_p.S180S|LILRA2_uc010yfg.1_Silent_p.S192S NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 192 Extracellular (Potential).|Ig-like C2-type 2. defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GCAGGTGGTCGTACAGGTGCT 0.572 35 159 --- --- --- --- PASS FCAR 2204 broad.mit.edu 37 19 55399446 55399446 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:55399446C>A uc002qhr.1 + 4 631 c.434C>A c.(433-435)ACG>AAG p.T145K FCAR_uc002qhq.2_Missense_Mutation_p.T145K|FCAR_uc002qhs.1_Intron|FCAR_uc002qht.1_Missense_Mutation_p.T118K|FCAR_uc010esi.1_Intron|FCAR_uc002qhu.1_Intron|FCAR_uc002qhv.1_Missense_Mutation_p.T145K|FCAR_uc002qhw.1_Missense_Mutation_p.T133K|FCAR_uc002qhx.1_Intron|FCAR_uc002qhy.1_Missense_Mutation_p.T133K|FCAR_uc002qhz.1_Missense_Mutation_p.T133K|FCAR_uc002qia.1_Missense_Mutation_p.T36K NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 145 Ig-like C2-type 2.|Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) ATTTCCCTCACGTGCAGCTCA 0.502 36 34 --- --- --- --- PASS ZNF835 90485 broad.mit.edu 37 19 57176042 57176042 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:57176042G>T uc010ygo.1 - 2 591 c.591C>A c.(589-591)TTC>TTA p.F197L ZNF835_uc010ygn.1_Missense_Mutation_p.F175L NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 AGCCCTGGCTGAAGGCCTTGC 0.706 5 9 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326041 57326041 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:57326041G>T uc002qnu.2 - 7 4120 c.3769C>A c.(3769-3771)CAG>AAG p.Q1257K ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Q1228K|PEG3_uc002qnv.2_Missense_Mutation_p.Q1257K|PEG3_uc002qnw.2_Missense_Mutation_p.Q1133K|PEG3_uc002qnx.2_Missense_Mutation_p.Q1131K|PEG3_uc010etr.2_Missense_Mutation_p.Q1257K NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1257 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCAGCCATCTGGCTCTGCTCC 0.473 23 38 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57326467 57326467 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:57326467C>A uc002qnu.2 - 7 3694 c.3343G>T c.(3343-3345)GGC>TGC p.G1115C ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1086C|PEG3_uc002qnv.2_Missense_Mutation_p.G1115C|PEG3_uc002qnw.2_Missense_Mutation_p.G991C|PEG3_uc002qnx.2_Missense_Mutation_p.G989C|PEG3_uc010etr.2_Missense_Mutation_p.G1115C NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1115 C2H2-type 6. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCCACAAAGCCCAGGCCACAG 0.493 84 91 --- --- --- --- PASS C20orf46 55321 broad.mit.edu 37 20 1161498 1161498 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:1161498C>A uc010gaa.1 - 3 984 c.765G>T c.(763-765)AGG>AGT p.R255S C20orf46_uc002weq.1_Missense_Mutation_p.R255S NM_018354 NP_060824 Q9NUR3 CT046_HUMAN hypothetical protein LOC55321 255 integral to membrane protein binding ovary(1) 1 GTTCTTAAGACCTCTGGAGGG 0.592 40 90 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9546901 9546901 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:9546901G>A uc002wnl.2 - 6 1666 c.1121C>T c.(1120-1122)CCG>CTG p.P374L PAK7_uc002wnk.2_Missense_Mutation_p.P374L|PAK7_uc002wnj.2_Missense_Mutation_p.P374L|PAK7_uc010gby.1_Missense_Mutation_p.P374L NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 374 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTACCCAGACGGGTACTGGTG 0.572 96 212 --- --- --- --- PASS PCSK2 5126 broad.mit.edu 37 20 17462428 17462428 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:17462428G>A uc002wpm.2 + 12 1950 c.1630G>A c.(1630-1632)GAC>AAC p.D544N PCSK2_uc002wpl.2_Missense_Mutation_p.D525N|PCSK2_uc010zrm.1_Missense_Mutation_p.D509N|PCSK2_uc002wpn.2_Missense_Mutation_p.D198N NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 544 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) AAGGGATGACGACTCCAAGGT 0.577 12 76 --- --- --- --- PASS CRNKL1 51340 broad.mit.edu 37 20 20033174 20033174 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:20033174C>G uc002wrs.2 - 2 328 c.296G>C c.(295-297)GGT>GCT p.G99A C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.G87A NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 99 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCCATGGTGACCAGGCTGCGC 0.622 4 73 --- --- --- --- PASS NKX2-4 644524 broad.mit.edu 37 20 21376578 21376578 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:21376578C>T uc010gcz.2 - 2 1046 c.1036G>A c.(1036-1038)GCC>ACC p.A346T NM_033176 NP_149416 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 346 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCAGGTTGGCGCCCAGGACG 0.532 34 47 --- --- --- --- PASS GGTLC1 92086 broad.mit.edu 37 20 23967093 23967093 + Silent SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:23967093G>T uc002wts.2 - 2 289 c.156C>A c.(154-156)GCC>GCA p.A52A GGTLC1_uc002wtu.2_Silent_p.A52A NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 52 gamma-glutamyltransferase activity ovary(1) 1 TGGTGCTGGTGGCGGACACAG 0.632 18 25 --- --- --- --- PASS C20orf71 128861 broad.mit.edu 37 20 31805393 31805393 + Silent SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:31805393G>A uc002wyr.2 + 1 259 c.51G>A c.(49-51)TTG>TTA p.L17L C20orf71_uc002wys.2_Silent_p.L17L NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 17 extracellular region lipid binding ovary(1)|skin(1) 2 TGCTGGCCTTGCCCTTGGCAC 0.602 59 76 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35422806 35422806 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:35422806C>A uc002xgd.1 - 14 3292 c.2965G>T c.(2965-2967)GCC>TCC p.A989S C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 989 0 Myeloproliferative disorder(115;0.00874) CAGGCCAGGGCACCCAGGTGG 0.642 20 42 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36870069 36870069 + Missense_Mutation SNP C T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:36870069C>T uc002xhy.1 - 3 736 c.464G>A c.(463-465)AGT>AAT p.S155N KIAA1755_uc002xhz.1_Missense_Mutation_p.S155N NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 155 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CTCAAAGTCACTGTTGATGGC 0.512 68 127 --- --- --- --- PASS PLTP 5360 broad.mit.edu 37 20 44530927 44530927 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:44530927C>A uc002xqn.1 - 12 1234 c.1154G>T c.(1153-1155)CGC>CTC p.R385L PLTP_uc002xql.1_Missense_Mutation_p.R297L|PLTP_uc002xqm.1_Missense_Mutation_p.R405L|PLTP_uc002xqo.1_Missense_Mutation_p.R333L|PLTP_uc002xqp.1_Missense_Mutation_p.R385L|PLTP_uc002xqq.1_Missense_Mutation_p.R354L|PLTP_uc010zxj.1_Missense_Mutation_p.R290L|PLTP_uc010ghj.1_Missense_Mutation_p.R385L NM_006227 NP_006218 P55058 PLTP_HUMAN phospholipid transfer protein isoform a 385 cellular lipid metabolic process|lipid transport extracellular region lipid binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) CAGCTGCGTGCGCAGGGCCTT 0.602 28 57 --- --- --- --- PASS DDX27 55661 broad.mit.edu 37 20 47836040 47836040 + Missense_Mutation SNP G C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:47836040G>C uc002xuh.2 + 1 209 c.148G>C c.(148-150)GTG>CTG p.V50L NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 50 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGAGGTGCCGGTGGAGCCCGA 0.602 19 51 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62073850 62073850 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:62073850C>A uc002yey.1 - 5 902 c.725G>T c.(724-726)TGT>TTT p.C242F KCNQ2_uc002yez.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfa.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfb.1_Missense_Mutation_p.C242F|KCNQ2_uc011aax.1_Missense_Mutation_p.C242F|KCNQ2_uc002yfc.1_Missense_Mutation_p.C242F NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 242 Helical; Name=Segment S5; (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CAGGATGAGACAAAGGAAGCC 0.478 75 211 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10944770 10944770 + Missense_Mutation SNP G A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr21:10944770G>A uc002yip.1 - 11 832 c.464C>T c.(463-465)TCT>TTT p.S155F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.S137F|TPTE_uc002yir.1_Missense_Mutation_p.S117F|TPTE_uc010gkv.1_Missense_Mutation_p.S17F NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 155 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATAAGTCAGAAAAATACTG 0.318 19 187 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22696781 22696781 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr21:22696781G>T uc002yld.1 + 6 947 c.698G>T c.(697-699)AGG>ATG p.R233M NCAM2_uc011acb.1_Missense_Mutation_p.R91M|NCAM2_uc011acc.1_Missense_Mutation_p.R258M NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 233 Ig-like C2-type 3.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TTTTCCTGCAGGGCCTCAGGC 0.498 34 72 --- --- --- --- PASS ITGB2 3689 broad.mit.edu 37 21 46309964 46309964 + Missense_Mutation SNP A G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr21:46309964A>G uc002zgd.2 - 11 1630 c.1586T>C c.(1585-1587)ATA>ACA p.I529T ITGB2_uc002zge.2_Missense_Mutation_p.I529T|ITGB2_uc002zgf.3_Missense_Mutation_p.I529T|ITGB2_uc011afl.1_Missense_Mutation_p.I451T|ITGB2_uc010gpw.2_Missense_Mutation_p.I472T|ITGB2_uc002zgg.2_Missense_Mutation_p.I529T NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 529 II.|Extracellular (Potential).|Cysteine-rich tandem repeats. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) CTGCCCGTATATCAGCTTGCC 0.642 57 81 --- --- --- --- PASS TSSK2 23617 broad.mit.edu 37 22 19119619 19119619 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr22:19119619C>A uc002zow.2 + 1 1299 c.707C>A c.(706-708)CCG>CAG p.P236Q DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA NM_053006 NP_443732 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 236 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 Colorectal(54;0.0993) GTGGACTTCCCGCGCTCCAAG 0.597 77 133 --- --- --- --- PASS TRMT2A 27037 broad.mit.edu 37 22 20102130 20102130 + Silent SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr22:20102130C>G uc002zrk.1 - 8 1415 c.1200G>C c.(1198-1200)CTG>CTC p.L400L TRMT2A_uc002zrl.1_Silent_p.L400L|TRMT2A_uc002zrm.1_Silent_p.L222L|TRMT2A_uc002zrn.1_Silent_p.L400L|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank NM_182984 NP_892029 Q8IZ69 TRM2A_HUMAN HpaII tiny fragments locus 9C 400 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(1) 1 TCCGGAAGGTCAGCCCTAGCA 0.632 65 157 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34157444 34157444 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr22:34157444C>G uc003and.3 - 3 599 c.20G>C c.(19-21)GGG>GCG p.G7A LARGE_uc003ane.3_Missense_Mutation_p.G7A|LARGE_uc010gwp.2_Missense_Mutation_p.G7A|LARGE_uc011ame.1_Intron|LARGE_uc011amf.1_Missense_Mutation_p.G7A NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 7 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TTTCCGTCTCCCCCTGCAGAT 0.532 55 78 --- --- --- --- PASS DDX3X 1654 broad.mit.edu 37 X 41204467 41204467 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:41204467G>T uc004dfe.2 + 11 1915 c.1060G>T c.(1060-1062)GAT>TAT p.D354Y DDX3X_uc004dff.2_Missense_Mutation_p.D354Y|DDX3X_uc011mkq.1_Missense_Mutation_p.D338Y|DDX3X_uc011mkr.1_Missense_Mutation_p.D354Y|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 354 Necessary for interaction with XPO1.|Helicase ATP-binding. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TCGGATGTTGGATATGGGGTT 0.398 HNSCC(61;0.18) 105 24 --- --- --- --- PASS CPXCR1 53336 broad.mit.edu 37 X 88008875 88008875 + Missense_Mutation SNP C A A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:88008875C>A uc004efd.3 + 3 719 c.460C>A c.(460-462)CAT>AAT p.H154N CPXCR1_uc004efc.3_Missense_Mutation_p.H154N NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 154 intracellular zinc ion binding ovary(3) 3 TATGATTCTCCATCTGCTATG 0.368 4 41 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100615711 100615711 + Silent SNP T C C TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:100615711T>C uc004ehg.2 - 8 814 c.621A>G c.(619-621)GCA>GCG p.A207A BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Silent_p.A207A|BTK_uc010nno.2_Silent_p.A241A|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Silent_p.A207A NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 207 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 CTGGTGCTGCTGCTGGCTCAG 0.463 Agammaglobulinemia_X-linked 70 17 --- --- --- --- PASS H2BFWT 158983 broad.mit.edu 37 X 103267886 103267886 + Missense_Mutation SNP C G G TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:103267886C>G uc004elr.2 - 1 371 c.347G>C c.(346-348)CGC>CCC p.R116P NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 116 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 GGTGGCGATGCGGTCCAATAT 0.642 48 11 --- --- --- --- PASS FAM50A 9130 broad.mit.edu 37 X 153674214 153674214 + Missense_Mutation SNP G T T TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:153674214G>T uc004fll.3 + 3 349 c.251G>T c.(250-252)CGG>CTG p.R84L NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 84 spermatogenesis nucleus ovary(1) 1 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGAAGGAGCGGGAGAAGCAG 0.607 23 12 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 243251423 243251423 + RNA DEL A - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr1:243251423delA uc001hzq.1 - 8 c.1209delT Homo sapiens cDNA FLJ52610 complete cds. actccatctcaaaaaaaaaaa 0.179 3 4 --- --- --- --- Unknown 0 broad.mit.edu 37 2 90260137 90260137 + RNA DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr2:90260137delC uc010fhm.2 + 30 c.4120delC Parts of antibodies, mostly variable regions. AAAGTGGGGTCCCATCAAGGT 0.468 205 103 --- --- --- --- EPHA5 2044 broad.mit.edu 37 4 66467780 66467780 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:66467780delC uc003hcy.2 - 3 682 c.489delG c.(487-489)GGGfs p.G163fs EPHA5_uc003hcx.2_Frame_Shift_Del_p.G94fs|EPHA5_uc003hcz.2_Frame_Shift_Del_p.G163fs|EPHA5_uc011cah.1_Frame_Shift_Del_p.G163fs|EPHA5_uc011cai.1_Frame_Shift_Del_p.G163fs|EPHA5_uc003hda.2_Frame_Shift_Del_p.G163fs NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 163 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGATGTTTCTCCCATTCTGAT 0.408 TSP Lung(17;0.13) 57 70 --- --- --- --- COL25A1 84570 broad.mit.edu 37 4 109782124 109782124 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr4:109782124delC uc003hze.1 - 22 1732 c.1201delG c.(1201-1203)GATfs p.D401fs COL25A1_uc003hzg.2_Frame_Shift_Del_p.D401fs|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Frame_Shift_Del_p.D167fs NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 401 Extracellular (Potential).|Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TCTCCACGATCCCCCTTTTCC 0.433 28 32 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10529727 10529727 + Frame_Shift_Del DEL T - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr6:10529727delT uc010joo.2 + 3 1134 c.583delT c.(583-585)TTTfs p.F195fs GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Frame_Shift_Del_p.F194fs|GCNT2_uc010jon.2_Frame_Shift_Del_p.F194fs NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 195 Lumenal (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CGGGCAAGACTTTCCCCTGAA 0.532 56 30 --- --- --- --- ANO3 63982 broad.mit.edu 37 11 26619912 26619912 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:26619912delC uc001mqt.3 + 15 1593 c.1448delC c.(1447-1449)GCCfs p.A483fs ANO3_uc010rdr.1_Frame_Shift_Del_p.A467fs|ANO3_uc010rds.1_Frame_Shift_Del_p.A322fs|ANO3_uc010rdt.1_Frame_Shift_Del_p.A337fs NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 483 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TATTTTATAGCCACAGTCTTC 0.308 87 87 --- --- --- --- TMEM133 83935 broad.mit.edu 37 11 100863394 100863394 + Frame_Shift_Del DEL G - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr11:100863394delG uc001pgf.2 + 1 584 c.355delG c.(355-357)GGTfs p.G119fs NM_032021 NP_114410 Q9H2Q1 TM133_HUMAN transmembrane protein 133 119 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014) BRCA - Breast invasive adenocarcinoma(274;0.0675) AGTTCCACTTGGTAATAACGT 0.393 205 112 --- --- --- --- RACGAP1 29127 broad.mit.edu 37 12 50388016 50388016 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr12:50388016delC uc001rvt.2 - 14 1547 c.1237delG c.(1237-1239)GATfs p.D413fs RACGAP1_uc009zlm.1_Frame_Shift_Del_p.D413fs|RACGAP1_uc001rvs.2_Frame_Shift_Del_p.D413fs|RACGAP1_uc001rvu.2_Frame_Shift_Del_p.D413fs NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 413 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 TGGATATCATCCACTTTGCTG 0.448 163 100 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15302611 15302611 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:15302611delC uc002nan.2 - 5 823 c.747delG c.(745-747)GGGfs p.G249fs NOTCH3_uc002nao.1_Frame_Shift_Del_p.G249fs NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 249 Extracellular (Potential).|EGF-like 6; calcium-binding (Potential). Missing (in CADASIL). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCACGCATGTCCCCCCATTGA 0.622 75 48 --- --- --- --- ZNF160 90338 broad.mit.edu 37 19 53572826 53572826 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr19:53572826delC uc010eqk.2 - 7 1377 c.961delG c.(961-963)GTCfs p.V321fs ZNF160_uc002qaq.3_Frame_Shift_Del_p.V321fs|ZNF160_uc002qar.3_Frame_Shift_Del_p.V321fs NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 321 C2H2-type 3. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) TGCCTGAAGACCTTGCCACAC 0.418 97 79 --- --- --- --- GGTLC1 92086 broad.mit.edu 37 20 23967142 23967142 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chr20:23967142delC uc002wts.2 - 2 240 c.107delG c.(106-108)GGCfs p.G36fs GGTLC1_uc002wtu.2_Frame_Shift_Del_p.G36fs NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 36 gamma-glutamyltransferase activity ovary(1) 1 GTGAGCAGTGCCCCCGTCATC 0.622 61 31 --- --- --- --- SAGE1 55511 broad.mit.edu 37 X 134989943 134989943 + Frame_Shift_Del DEL C - - TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 Somatic Phase_I Capture Illumina GAIIx 1a6da454-8faf-4725-a702-55d29da461a5 18e8906f-4e3d-4b55-bbeb-8fa2993d64a5 g.chrX:134989943delC uc004ezh.2 + 10 1269 c.1102delC c.(1102-1104)CCAfs p.P368fs SAGE1_uc010nry.1_Frame_Shift_Del_p.P337fs|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 368 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) AACTGTTCTACCAGGGCTTGC 0.438 43 101 --- --- --- ---