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 KLHL21 9903 broad.mit.edu 37 1 6653646 6653646 + Nonsense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:6653646C>A uc001aoa.2 - 4 1625 c.1573G>T c.(1573-1575)GAA>TAA p.E525* KLHL21_uc001anz.1_3'UTR|KLHL21_uc009vme.2_Nonsense_Mutation_p.E158* NM_014851 NP_055666 Q9UJP4 KLH21_HUMAN kelch-like 21 525 Kelch 6. anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1) 1 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) TCCGAGAGTTCAAATGTATTG 0.607 AKR7A3 22977 broad.mit.edu 37 1 19612421 19612421 + Silent SNP G G C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:19612421G>C uc001bbv.1 - 3 545 c.468C>G c.(466-468)CTC>CTG p.L156L NM_012067 NP_036199 O95154 ARK73_HUMAN aldo-keto reductase family 7, member A3 156 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGCTCTTGCAGAGGGTACAGA 0.587 DLGAP3 58512 broad.mit.edu 37 1 35370318 35370318 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:35370318G>T uc001byc.2 - 1 667 c.667C>A c.(667-669)CAT>AAT p.H223N NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 223 Poly-His. cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) tggtggtgatggGAGGTGTGG 0.552 ORC1L 4998 broad.mit.edu 37 1 52861837 52861837 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:52861837G>A uc001ctt.2 - 5 821 c.602C>T c.(601-603)TCT>TTT p.S201F ORC1L_uc010oni.1_Missense_Mutation_p.S201F|ORC1L_uc001ctu.2_Missense_Mutation_p.S201F|ORC1L_uc009vzd.2_5'UTR NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 201 cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 TGGGGTCCAAGAAGGGCTCTC 0.512 ROR1 4919 broad.mit.edu 37 1 64643444 64643444 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:64643444G>A uc001dbj.2 + 9 2119 c.1720G>A c.(1720-1722)GGC>AGC p.G574S uc001dbm.2_5'Flank NM_005012 NP_005003 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 574 Cytoplasmic (Potential).|Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1) 19 CTCTGATGTTGGCTGCAGCAG 0.483 LRRC8B 23507 broad.mit.edu 37 1 90050004 90050004 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:90050004C>T uc001dni.2 + 7 2302 c.1795C>T c.(1795-1797)CGC>TGC p.R599C LRRC8B_uc001dnh.2_Missense_Mutation_p.R599C|LRRC8B_uc001dnj.2_Missense_Mutation_p.R599C NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 599 LRR 6. integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) TGACCTGGAACGCATCCCACA 0.403 FLG 2312 broad.mit.edu 37 1 152283559 152283559 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:152283559G>T uc001ezu.1 - 3 3839 c.3803C>A c.(3802-3804)TCC>TAC p.S1268Y uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1268 Ser-rich.|Filaggrin 7. 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) GCTAACACTGGATCCCTGGTG 0.468 Ichthyosis FLG 2312 broad.mit.edu 37 1 152286203 152286203 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:152286203C>T uc001ezu.1 - 3 1195 c.1159G>A c.(1159-1161)GGC>AGC p.G387S uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 387 Ser-rich.|Filaggrin 2. 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) TGCTGGTGGCCGGATCCATGT 0.582 Ichthyosis IQGAP3 128239 broad.mit.edu 37 1 156496382 156496382 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:156496382G>T uc001fpf.2 - 38 4867 c.4792C>A c.(4792-4794)CAG>AAG p.Q1598K NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1598 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TACTGGAGCTGCAGGAGATCC 0.493 ADCY10 55811 broad.mit.edu 37 1 167874377 167874377 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:167874377A>G uc001ger.2 - 2 300 c.2T>C c.(1-3)ATG>ACG p.M1T ADCY10_uc009wvk.2_5'UTR|ADCY10_uc010plj.1_Intron|ADCY10_uc009wvl.2_Missense_Mutation_p.M1T|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 1 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 TGGAGTGTTCATGTTCAAGAC 0.398 HMCN1 83872 broad.mit.edu 37 1 186114580 186114580 + Missense_Mutation SNP G G A rs141397809 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:186114580G>A uc001grq.1 + 92 14541 c.14312G>A c.(14311-14313)CGG>CAG p.R4771Q HMCN1_uc001grs.1_Missense_Mutation_p.R340Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4771 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACATGCAGCCGGACGTGTAAC 0.552 CFHR3 10878 broad.mit.edu 37 1 196749062 196749062 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:196749062C>T uc001gtl.2 + 3 476 c.389C>T c.(388-390)ACG>ATG p.T130M CFHR3_uc001gtk.2_Missense_Mutation_p.T130M|CFHR3_uc010poy.1_Missense_Mutation_p.T130M|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 130 Sushi 2. extracellular space 0 GTTACATGTACGGAGAAAGGC 0.473 PM20D1 148811 broad.mit.edu 37 1 205817084 205817084 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:205817084G>A uc001hdj.2 - 2 230 c.185C>T c.(184-186)CCA>CTA p.P62L PM20D1_uc009xbr.2_RNA NM_152491 NP_689704 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 precursor 62 extracellular region metal ion binding|peptidase activity skin(1) 1 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) AGTCACTGTTGGAATCTGGAT 0.403 FMN2 56776 broad.mit.edu 37 1 240371492 240371492 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:240371492C>T uc010pyd.1 + 5 3605 c.3380C>T c.(3379-3381)GCG>GTG p.A1127V FMN2_uc010pye.1_Missense_Mutation_p.A1131V NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1127 Pro-rich.|FH1. 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) CTACCCGGAGCGGGCATACCC 0.721 DOCK1 1793 broad.mit.edu 37 10 129179558 129179558 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr10:129179558T>C uc001ljt.2 + 37 3734 c.3670T>C c.(3670-3672)TGT>CGT p.C1224R DOCK1_uc010qun.1_Missense_Mutation_p.C1245R|DOCK1_uc009yaq.2_Missense_Mutation_p.C219R NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1224 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GTACAAGCTCTGTGACCTGCA 0.388 MUC5B 727897 broad.mit.edu 37 11 1263339 1263339 + Silent SNP G G C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:1263339G>C uc009ycr.1 + 47 7434 c.7308G>C c.(7306-7308)ACG>ACC p.T2436T MUC5B_uc001ltb.2_Silent_p.T1746T NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1743 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGCTGACCACGAGCCTGGCGC 0.642 APBB1 322 broad.mit.edu 37 11 6432394 6432394 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:6432394G>T uc001mdb.1 - 2 284 c.184C>A c.(184-186)CCA>ACA p.P62T APBB1_uc001mdc.1_Missense_Mutation_p.P62T|APBB1_uc010rah.1_Intron NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 62 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCAGGGCCTGGCTCAGGCCCA 0.662 PTPRJ 5795 broad.mit.edu 37 11 48149352 48149352 + Missense_Mutation SNP G G A rs2229703 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:48149352G>A uc001ngp.3 + 7 1469 c.1114G>A c.(1114-1116)GTC>ATC p.V372I PTPRJ_uc001ngo.3_Missense_Mutation_p.V372I NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 372 Extracellular (Potential).|Fibronectin type-III 4. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity p.V372L(1) breast(3)|kidney(3)|ovary(1)|skin(1) 8 GGTTTTTGACGTCACCGCTGT 0.498 OR9G4 283189 broad.mit.edu 37 11 56510343 56510343 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:56510343G>T uc010rjo.1 - 1 945 c.945C>A c.(943-945)GCC>GCA p.A315A NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 315 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CTTTCCTGAAGGCCTCTTTGA 0.408 BAD 572 broad.mit.edu 37 11 64037700 64037700 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:64037700C>T uc001nzd.2 - 4 570 c.488G>A c.(487-489)AGC>AAC p.S163N BAD_uc001nzc.2_Missense_Mutation_p.S163N|GPR137_uc009ypj.1_5'UTR NM_032989 NP_116784 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 163 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1) 1 GGGGGCGGAGCTTCCCCTGCC 0.637 SLC22A12 116085 broad.mit.edu 37 11 64360337 64360337 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:64360337C>T uc001oam.1 + 2 1236 c.489C>T c.(487-489)TGC>TGT p.C163C SLC22A12_uc009ypr.1_Silent_p.C163C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.C163C|SLC22A12_uc001oan.1_Silent_p.C163C|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 163 Helical; (Potential). cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 CTGCTGCGTGCGGCCCTGCCT 0.627 CADM1 23705 broad.mit.edu 37 11 115099839 115099839 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:115099839C>A uc001ppi.3 - 5 844 c.715G>T c.(715-717)GTA>TTA p.V239L CADM1_uc001ppf.3_Missense_Mutation_p.V239L|CADM1_uc001ppk.3_Missense_Mutation_p.V239L|CADM1_uc001ppj.3_Missense_Mutation_p.V239L|CADM1_uc001ppl.2_Missense_Mutation_p.V239L NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 239 Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TCACACTGTACTTCTAGATAC 0.483 APOA5 116519 broad.mit.edu 37 11 116661339 116661339 + Silent SNP G G A rs140482460 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:116661339G>A uc001ppr.2 - 3 614 c.606C>T c.(604-606)ATC>ATT p.I202I ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.I202I|APOA5_uc009yzf.2_Silent_p.I202I|APOA5_uc009yzg.2_Silent_p.I228I NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 202 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CGTGGCGCCCGATGCCGCTCA 0.697 GRIK4 2900 broad.mit.edu 37 11 120531035 120531035 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:120531035G>A uc001pxn.2 + 3 295 c.8G>A c.(7-9)CGC>CAC p.R3H GRIK4_uc009zav.1_Missense_Mutation_p.R3H|GRIK4_uc009zaw.1_Missense_Mutation_p.R3H|GRIK4_uc009zax.1_Missense_Mutation_p.R3H NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 3 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) AAGATGCCCCGCGTCTCGGCG 0.637 OREG0021424 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GRIK4 2900 broad.mit.edu 37 11 120732714 120732714 + Missense_Mutation SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:120732714A>T uc001pxn.2 + 9 1078 c.791A>T c.(790-792)AAC>ATC p.N264I GRIK4_uc009zav.1_Missense_Mutation_p.N264I|GRIK4_uc009zaw.1_Missense_Mutation_p.N264I|GRIK4_uc009zax.1_Missense_Mutation_p.N264I NM_014619 NP_055434 Q16099 GRIK4_HUMAN glutamate receptor KA1 precursor 264 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|central_nervous_system(1) 3 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GATCGTGTCAACATCCTGGGA 0.488 ADAMTS8 11095 broad.mit.edu 37 11 130297579 130297579 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr11:130297579C>T uc001qgg.3 - 1 961 c.603G>A c.(601-603)CCG>CCA p.P201P NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 201 Poly-Pro. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGGCGGTGGCGGCTCGCTAG 0.657 PDZRN4 29951 broad.mit.edu 37 12 41900470 41900470 + Silent SNP T T A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:41900470T>A uc010skn.1 + 4 527 c.459T>A c.(457-459)CCT>CCA p.P153P PDZRN4_uc001rmq.3_Silent_p.P94P|PDZRN4_uc009zjz.2_Silent_p.P92P|PDZRN4_uc001rmr.2_5'Flank NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 352 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TTCGTCCACCTACCCCTCCAG 0.493 MAP3K12 7786 broad.mit.edu 37 12 53879109 53879109 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:53879109G>T uc001sdm.1 - 6 971 c.873C>A c.(871-873)GTC>GTA p.V291V MAP3K12_uc001sdn.1_Silent_p.V324V NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 291 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 ACCAGATGTCGACCTTCTCAG 0.557 MARS 4141 broad.mit.edu 37 12 57898029 57898029 + Nonsense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:57898029C>T uc001sog.2 + 11 1338 c.1315C>T c.(1315-1317)CGA>TGA p.R439* MARS_uc001sof.1_RNA|MARS_uc010srp.1_Nonsense_Mutation_p.R312*|MARS_uc010srq.1_Nonsense_Mutation_p.R205* NM_004990 NP_004981 P56192 SYMC_HUMAN methionyl-tRNA synthetase 439 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding ovary(3)|central_nervous_system(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TAAAGTCTGCCGATCATGCCC 0.557 OS9 10956 broad.mit.edu 37 12 58109707 58109707 + Silent SNP T T G rs73125477 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:58109707T>G uc001spj.2 + 6 803 c.744T>G c.(742-744)CCT>CCG p.P248P OS9_uc010srx.1_Intron|OS9_uc001spk.2_Silent_p.P248P|OS9_uc001spl.2_Silent_p.P248P|OS9_uc001spm.2_Silent_p.P248P|OS9_uc001spn.2_Silent_p.P248P|OS9_uc010sry.1_Silent_p.P215P|OS9_uc010srz.1_Silent_p.P189P NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 248 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCTGTCACCCTTCCCTACAGC 0.627 C12orf66 144577 broad.mit.edu 37 12 64587770 64587770 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:64587770C>T uc001srw.3 - 3 1249 c.1190G>A c.(1189-1191)CGC>CAC p.R397H C12orf66_uc009zql.2_Missense_Mutation_p.R344H NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 397 ovary(1) 1 AGGTTCCGGGCGGGTTAGGAA 0.448 MGAT4C 25834 broad.mit.edu 37 12 86373542 86373542 + Missense_Mutation SNP G G A rs145801611 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:86373542G>A uc001tai.3 - 8 2212 c.962C>T c.(961-963)ACG>ATG p.T321M MGAT4C_uc001tal.3_Missense_Mutation_p.T321M|MGAT4C_uc001taj.3_Missense_Mutation_p.T321M|MGAT4C_uc001tak.3_Missense_Mutation_p.T321M|MGAT4C_uc010sum.1_Missense_Mutation_p.T345M|MGAT4C_uc001tah.3_Missense_Mutation_p.T321M NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 321 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 CTTATTCTCCGTCCCTTTGTA 0.403 WSCD2 9671 broad.mit.edu 37 12 108641943 108641943 + Silent SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:108641943G>T uc001tms.2 + 9 2265 c.1521G>T c.(1519-1521)CTG>CTT p.L507L WSCD2_uc001tmt.2_Silent_p.L507L|WSCD2_uc001tmu.2_Silent_p.L275L NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 507 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 AGGACCGGCTGCTCTGTGTGG 0.602 RAP2A 5911 broad.mit.edu 37 13 98116563 98116563 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr13:98116563G>T uc001vnd.2 + 2 669 c.419G>T c.(418-420)TGC>TTC p.C140F NM_021033 NP_066361 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family precursor 140 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1) 1 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) GAGTGGGGCTGCCCCTTTATG 0.488 MYO16 23026 broad.mit.edu 37 13 109792648 109792648 + Missense_Mutation SNP G G T rs145367903 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr13:109792648G>T uc001vqt.1 + 32 4148 c.4022G>T c.(4021-4023)AGC>ATC p.S1341I MYO16_uc010agk.1_Missense_Mutation_p.S1363I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1341 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GACGACTACAGCACCATGAAG 0.602 PRKD1 5587 broad.mit.edu 37 14 30102110 30102110 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:30102110G>A uc001wqh.2 - 9 1538 c.1357C>T c.(1357-1359)CTC>TTC p.L453F NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 453 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TTCTGAAAGAGGGTAATACAT 0.368 BAZ1A 11177 broad.mit.edu 37 14 35224069 35224069 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:35224069G>A uc001wsk.2 - 26 5006 c.4438C>T c.(4438-4440)CGT>TGT p.R1480C BAZ1A_uc001wsl.2_Missense_Mutation_p.R1448C NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1480 Bromo. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) ACTTTTTCACGAATTATATTT 0.284 LRFN5 145581 broad.mit.edu 37 14 42356169 42356169 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:42356169T>G uc001wvm.2 + 3 1539 c.341T>G c.(340-342)ATT>AGT p.I114S LRFN5_uc010ana.2_Missense_Mutation_p.I114S NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 114 Extracellular (Potential).|LRR 3. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTGACTAAAATTACAAATGAT 0.353 HNSCC(30;0.082) GNPNAT1 64841 broad.mit.edu 37 14 53251263 53251263 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:53251263C>T uc001xab.2 - 2 361 c.106G>A c.(106-108)GGA>AGA p.G36R NM_198066 NP_932332 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 36 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity 0 Breast(41;0.176) AAGCCTTCTCCAGGATGTGTT 0.408 TMEM90A 646658 broad.mit.edu 37 14 74876050 74876050 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:74876050T>C uc001xpx.2 - 2 646 c.398A>G c.(397-399)GAT>GGT p.D133G NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN transmembrane protein 90A 133 response to biotic stimulus Golgi apparatus|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(234;0.00159) CTCCTGGTCATCCTCCTGGTC 0.418 KCNK13 56659 broad.mit.edu 37 14 90651110 90651110 + Silent SNP C C T rs139112374 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:90651110C>T uc001xye.1 + 2 1432 c.990C>T c.(988-990)GAC>GAT p.D330D NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 330 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) TAGAGACAGACGGGGTGGCAG 0.622 SLTM 79811 broad.mit.edu 37 15 59186099 59186099 + Silent SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr15:59186099A>G uc002afp.2 - 12 1657 c.1569T>C c.(1567-1569)GGT>GGC p.G523G SLTM_uc002afn.2_Splice_Site_p.G92_splice|SLTM_uc002afo.2_Silent_p.G505G|SLTM_uc002afq.2_Silent_p.G92G|SLTM_uc010bgd.2_Silent_p.G92G NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 523 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TCTCATCTTTACCTTCTATTT 0.348 DENND4A 10260 broad.mit.edu 37 15 65988761 65988761 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr15:65988761C>T uc002aph.2 - 21 3271 c.2893G>A c.(2893-2895)GTT>ATT p.V965I DENND4A_uc002api.2_Missense_Mutation_p.V1008I|DENND4A_uc002apj.3_Missense_Mutation_p.V965I NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 965 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GTGAGGCGAACGATACTGGAA 0.383 CORO2B 10391 broad.mit.edu 37 15 69004026 69004026 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr15:69004026G>A uc002arj.3 + 5 658 c.629G>A c.(628-630)CGC>CAC p.R210H CORO2B_uc010bic.2_Missense_Mutation_p.R205H|CORO2B_uc002ark.2_5'Flank NM_006091 NP_006082 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 210 WD 3. actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding ovary(3)|skin(2)|large_intestine(1) 6 ATTGAGCCCCGCTCTGGCCGT 0.557 C15orf42 90381 broad.mit.edu 37 15 90164697 90164697 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr15:90164697G>T uc002boe.2 + 19 3228 c.3228G>T c.(3226-3228)ATG>ATT p.M1076I C15orf42_uc010upv.1_5'Flank NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1076 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TGTCTGAGATGATCAGCCCCT 0.423 PKD1 5310 broad.mit.edu 37 16 2143019 2143019 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:2143019C>A uc002cos.1 - 38 11301 c.11092G>T c.(11092-11094)GCC>TCC p.A3698S PKD1_uc002cot.1_Missense_Mutation_p.A3697S|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 3698 Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 AGACGGTAGGCGTGCCCATGG 0.642 TRAP1 10131 broad.mit.edu 37 16 3724366 3724366 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:3724366G>A uc002cvt.3 - 9 1107 c.1018C>T c.(1018-1020)CGC>TGC p.R340C TRAP1_uc002cvs.2_Missense_Mutation_p.R131C|TRAP1_uc010uxf.1_Missense_Mutation_p.R287C NM_016292 NP_057376 Q12931 TRAP1_HUMAN TNF receptor-associated protein 1 precursor 340 cellular response to oxidative stress|protein folding mitochondrion ATP binding|tumor necrosis factor receptor binding|unfolded protein binding central_nervous_system(1) 1 Ovarian(90;0.0261) AAGATGCTGCGGATGTTGAGC 0.607 SEC14L5 9717 broad.mit.edu 37 16 5064914 5064914 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:5064914C>T uc002cye.2 + 16 2214 c.2034C>T c.(2032-2034)GCC>GCT p.A678A NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 678 Ser-rich. integral to membrane|intracellular transporter activity 0 AGCTCAGCGCCGCCACCTCGT 0.662 GP2 2813 broad.mit.edu 37 16 20335179 20335179 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:20335179C>A uc002dgv.2 - 3 577 c.494G>T c.(493-495)CGG>CTG p.R165L GP2_uc002dgw.2_Missense_Mutation_p.R165L|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 165 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 GCCTTCCAACCGGTACACATG 0.577 NKD1 85407 broad.mit.edu 37 16 50642255 50642255 + Silent SNP C C T rs115028583 by1000genomes TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:50642255C>T uc002egg.1 + 4 467 c.243C>T c.(241-243)GAC>GAT p.D81D NM_033119 NP_149110 Q969G9 NKD1_HUMAN naked cuticle homolog 1 81 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding 0 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) AAGAGGAGGACGACTTTCGGC 0.602 NDRG4 65009 broad.mit.edu 37 16 58538551 58538551 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:58538551G>T uc002eno.2 + 5 476 c.370G>T c.(370-372)GCA>TCA p.A124S NDRG4_uc002enk.2_Missense_Mutation_p.A156S|NDRG4_uc002enm.2_Missense_Mutation_p.A176S|NDRG4_uc010vif.1_Missense_Mutation_p.A156S|NDRG4_uc010cdk.2_Missense_Mutation_p.A142S|NDRG4_uc010vig.1_Missense_Mutation_p.A154S|NDRG4_uc010vih.1_Missense_Mutation_p.A69S|NDRG4_uc010vii.1_Missense_Mutation_p.A142S|NDRG4_uc002enp.2_Missense_Mutation_p.A124S|NDRG4_uc002enq.1_5'Flank NM_022910 NP_075061 Q9ULP0 NDRG4_HUMAN NDRG family member 4 isoform 1 124 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm skin(1) 1 GGCCAAGTTTGCAGTGAGTCT 0.607 MLKL 197259 broad.mit.edu 37 16 74716642 74716642 + Missense_Mutation SNP A A C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:74716642A>C uc002fdb.2 - 6 1304 c.863T>G c.(862-864)CTC>CGC p.L288R MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 288 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 CAGGGTCCCGAGTTCACAGTA 0.557 C16orf46 123775 broad.mit.edu 37 16 81097557 81097557 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr16:81097557C>A uc002fgc.3 - 3 263 c.4G>T c.(4-6)GAT>TAT p.D2Y C16orf46_uc010chf.2_Missense_Mutation_p.D2Y|C16orf46_uc010vno.1_Intron NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 2 0 TGACAGAGATCCATTACTGTG 0.294 KRT36 8689 broad.mit.edu 37 17 39645762 39645762 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr17:39645762C>T uc002hwt.2 - 1 355 c.355G>A c.(355-357)GCG>ACG p.A119T NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 119 Rod.|Coil 1A. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TCCAGCTCCGCGTTCTCCCGC 0.572 CD300A 11314 broad.mit.edu 37 17 72470705 72470705 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr17:72470705G>A uc002jkv.2 + 3 735 c.414G>A c.(412-414)GCG>GCA p.A138A CD300A_uc002jkw.2_Silent_p.A25A|CD300A_uc010dfr.2_Silent_p.A25A|CD300A_uc010dfs.2_Intron NM_007261 NP_009192 Q9UGN4 CLM8_HUMAN leukocyte membrane antigen 138 Extracellular (Potential). cell adhesion integral to membrane|plasma membrane receptor activity p.A138A(1) ovary(1)|skin(1) 2 GTATCACTGCGGCCAAGACCT 0.547 SEC14L1 6397 broad.mit.edu 37 17 75186883 75186883 + Splice_Site SNP A A T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr17:75186883A>T uc002jto.2 + 4 331 c.64_splice c.e4-2 p.A22_splice SEC14L1_uc010dhc.2_Splice_Site_p.A22_splice|SEC14L1_uc010wth.1_Splice_Site_p.A22_splice|SEC14L1_uc002jtm.2_Splice_Site_p.A22_splice|SEC14L1_uc010wti.1_Splice_Site NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a transport Golgi apparatus|integral to membrane binding ovary(2) 2 TTAAATTTATAGGCCTATGAA 0.483 PIK3C3 5289 broad.mit.edu 37 18 39570432 39570432 + Nonsense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr18:39570432C>T uc002lap.2 + 6 686 c.628C>T c.(628-630)CGA>TGA p.R210* PIK3C3_uc010xcl.1_Nonsense_Mutation_p.R147* NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 210 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 GAGTGAAAAACGAAGTTCTAA 0.284 TSP Lung(28;0.18) ST8SIA5 29906 broad.mit.edu 37 18 44272196 44272196 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr18:44272196C>G uc002lcj.1 - 3 815 c.247G>C c.(247-249)GAC>CAC p.D83H ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc010xcy.1_Missense_Mutation_p.D119H|ST8SIA5_uc010xcz.1_Missense_Mutation_p.D52H|ST8SIA5_uc010dno.1_Missense_Mutation_p.D119H NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 83 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 TTCCACCTGTCGAACAGCTCT 0.527 SMAD4 4089 broad.mit.edu 37 18 48593393 48593393 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr18:48593393C>G uc010xdp.1 + 10 1682 c.1144C>G c.(1144-1146)CAC>GAC p.H382D SMAD4_uc002lfb.3_Missense_Mutation_p.H227D NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 382 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CCTAAGGTTGCACATAGGCAA 0.333 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia NETO1 81832 broad.mit.edu 37 18 70417501 70417501 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr18:70417501T>G uc002lkw.2 - 9 1621 c.1337A>C c.(1336-1338)AAC>ACC p.N446T NETO1_uc002lkx.1_Missense_Mutation_p.N445T|NETO1_uc002lky.1_Missense_Mutation_p.N446T NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 446 Cytoplasmic (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) TGTGCTGAGGTTACTGCGGCT 0.463 ARID3A 1820 broad.mit.edu 37 19 971927 971927 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:971927C>G uc002lql.2 + 9 1934 c.1644C>G c.(1642-1644)AAC>AAG p.N548K NM_005224 NP_005215 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT- like) 548 Important for cytoplasmic localization (By similarity). cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCTCCCAACAAAGGAggcg 0.532 ADAMTS10 81794 broad.mit.edu 37 19 8668685 8668685 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:8668685T>C uc002mkj.1 - 5 793 c.519A>G c.(517-519)GAA>GAG p.E173E ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 173 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 GTGGTCCACTTTCCTCCGGGC 0.597 ZNF491 126069 broad.mit.edu 37 19 11917976 11917976 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:11917976G>T uc002mso.1 + 3 1493 c.1208G>T c.(1207-1209)AGA>ATA p.R403I NM_152356 NP_689569 Q8N8L2 ZN491_HUMAN zinc finger protein 491 403 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 ATACATGAAAGAATTCACACT 0.368 TSHZ3 57616 broad.mit.edu 37 19 31769087 31769087 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:31769087G>T uc002nsy.3 - 2 1677 c.1612C>A c.(1612-1614)CAG>AAG p.Q538K NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 538 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GTGCCGTTCTGGGCCTTGTTG 0.532 TRPM4 54795 broad.mit.edu 37 19 49661469 49661469 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:49661469C>A uc002pmw.2 + 2 117 c.45C>A c.(43-45)TTC>TTA p.F15L TRPM4_uc010emu.2_Missense_Mutation_p.F15L|TRPM4_uc010yak.1_5'UTR|TRPM4_uc002pmx.2_5'UTR|TRPM4_uc010emv.2_Missense_Mutation_p.F15L|TRPM4_uc010yal.1_5'UTR|HRC_uc002pmv.2_5'Flank NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 15 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCAAGATCTTCAAGAAGAAGA 0.602 VRK3 51231 broad.mit.edu 37 19 50498471 50498471 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:50498471G>A uc002prg.2 - 8 839 c.741C>T c.(739-741)TTC>TTT p.F247F VRK3_uc002prh.1_Silent_p.F247F|VRK3_uc002pri.1_Silent_p.F197F|VRK3_uc010ens.2_Silent_p.F247F|VRK3_uc010ybl.1_Silent_p.F197F|VRK3_uc010ybm.1_Intron|VRK3_uc002prj.1_Silent_p.F197F|VRK3_uc002prk.1_Silent_p.F247F|VRK3_uc010ent.1_Silent_p.F3F|VRK3_uc002prl.2_Silent_p.F247F|VRK3_uc010ybn.1_Missense_Mutation_p.S225L NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 247 Protein kinase. nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGTGAACACCGAAACCCATGC 0.562 LRRC4B 94030 broad.mit.edu 37 19 51022345 51022345 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:51022345G>A uc002pss.2 - 3 762 c.625C>T c.(625-627)CTG>TTG p.L209L NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 209 Extracellular (Potential).|LRR 6. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AGGTAGCGCAGGTTGACCAGC 0.667 SIGLEC14 100049587 broad.mit.edu 37 19 52149516 52149516 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:52149516C>A uc002pxf.3 - 2 535 c.415G>T c.(415-417)GTG>TTG p.V139L NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 139 Extracellular (Potential). cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) ATACCTGTCACCTCCAAGTTC 0.557 LILRA3 11026 broad.mit.edu 37 19 54802027 54802027 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:54802027C>T uc002qfd.2 - 6 1226 c.1161G>A c.(1159-1161)GTG>GTA p.V387V LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.V323V NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 387 Ig-like C2-type 4. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCCGAGGTCACAGGACTCA 0.587 FCAR 2204 broad.mit.edu 37 19 55396777 55396777 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:55396777G>A uc002qhr.1 + 3 398 c.201G>A c.(199-201)ACG>ACA p.T67T FCAR_uc002qhq.2_Silent_p.T67T|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T40T|FCAR_uc010esi.1_Silent_p.T40T|FCAR_uc002qhu.1_Silent_p.T67T|FCAR_uc002qhv.1_Silent_p.T67T|FCAR_uc002qhw.1_Silent_p.T55T|FCAR_uc002qhx.1_Silent_p.T55T|FCAR_uc002qhy.1_Silent_p.T55T|FCAR_uc002qhz.1_Silent_p.T55T|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 67 Extracellular (Potential).|Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) AAAACTCCACGTACCGAGAGA 0.488 NCR1 9437 broad.mit.edu 37 19 55421410 55421410 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:55421410G>A uc002qib.2 + 5 705 c.667G>A c.(667-669)GAC>AAC p.D223N NCR1_uc002qic.2_Missense_Mutation_p.D223N|NCR1_uc002qie.2_Missense_Mutation_p.D223N|NCR1_uc002qid.2_Missense_Mutation_p.D128N|NCR1_uc002qif.2_Missense_Mutation_p.D128N|NCR1_uc010esj.2_Missense_Mutation_p.D116N NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 223 Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) TGCACCTGAAGACCCCACCTT 0.438 TXNDC9 10190 broad.mit.edu 37 2 99944024 99944024 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:99944024G>A uc002szz.2 - 3 473 c.282C>T c.(280-282)TGC>TGT p.C94C TXNDC9_uc010yvp.1_Silent_p.C111C|TXNDC9_uc002taa.1_Silent_p.C94C NM_005783 NP_005774 O14530 TXND9_HUMAN thioredoxin domain containing 9 94 Thioredoxin. cell redox homeostasis protein binding 0 TGTAGAAATGGCAAACCACAT 0.378 THSD7B 80731 broad.mit.edu 37 2 138169203 138169203 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:138169203G>A uc002tva.1 + 13 2627 c.2627G>A c.(2626-2628)TGC>TAC p.C876Y THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.C766Y NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AAGGAGAAATGCCAGGATTCT 0.373 ZEB2 9839 broad.mit.edu 37 2 145162506 145162506 + Silent SNP G G A rs138859323 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:145162506G>A uc002tvu.2 - 5 969 c.489C>T c.(487-489)ATC>ATT p.I163I ZEB2_uc002tvv.2_Silent_p.I157I|ZEB2_uc010zbm.1_Silent_p.I134I|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.I192I NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 163 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GGTACTCCTCGATGCTGACTG 0.478 NEUROD1 4760 broad.mit.edu 37 2 182542645 182542645 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:182542645C>T uc002uof.2 - 2 1179 c.943G>A c.(943-945)GGA>AGA p.G315R CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 315 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) AAGATTGATCCGTGGCTTTGG 0.512 DNAH7 56171 broad.mit.edu 37 2 196737066 196737066 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:196737066G>A uc002utj.3 - 40 6642 c.6541C>T c.(6541-6543)CGT>TGT p.R2181C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2181 AAA 3 (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 GAGAAATCACGGAGGTTGAAC 0.393 PLCL1 5334 broad.mit.edu 37 2 198948639 198948639 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:198948639G>A uc010fsp.2 + 2 689 c.398G>A c.(397-399)CGT>CAT p.R133H PLCL1_uc002uuv.3_Missense_Mutation_p.R54H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 133 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) ATTTACAACCGTTTTTTCACT 0.443 ERBB4 2066 broad.mit.edu 37 2 212248608 212248608 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:212248608T>G uc002veg.1 - 28 3757 c.3659A>C c.(3658-3660)GAG>GCG p.E1220A ERBB4_uc002veh.1_Missense_Mutation_p.E1204A|ERBB4_uc010zji.1_Missense_Mutation_p.E1210A|ERBB4_uc010zjj.1_Missense_Mutation_p.E1194A NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1220 Cytoplasmic (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) CTTCAGGTACTCAGCTTTTCC 0.502 TSP Lung(8;0.080) SPEG 10290 broad.mit.edu 37 2 220329225 220329225 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:220329225C>T uc010fwg.2 + 9 2776 c.2776C>T c.(2776-2778)CGG>TGG p.R926W SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Missense_Mutation_p.R134W|SPEG_uc002vln.1_Missense_Mutation_p.R134W|SPEG_uc002vlp.1_Missense_Mutation_p.R134W|SPEG_uc002vlq.2_Missense_Mutation_p.R77W NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 926 Ig-like 3. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGGCTGTGCCGGCTGCGGAT 0.647 SLC19A3 80704 broad.mit.edu 37 2 228566967 228566967 + Missense_Mutation SNP C C A rs121917882 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr2:228566967C>A uc002vpi.2 - 2 157 c.68G>T c.(67-69)GGT>GTT p.G23V SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_5'UTR NM_025243 NP_079519 Q9BZV2 S19A3_HUMAN solute carrier family 19, member 3 23 Helical; (Potential). G -> V (in BBGD). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity ovary(2) 2 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) GGAGAAAAAACCAAATAAGCA 0.393 PIWIL3 440822 broad.mit.edu 37 22 25153973 25153973 + Missense_Mutation SNP T T C rs142994368 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr22:25153973T>C uc003abd.1 - 4 674 c.257A>G c.(256-258)CAT>CGT p.H86R PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc011ajy.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.H86R NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 86 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 GGGCGCTGTATGCAACCCAGC 0.438 CHL1 10752 broad.mit.edu 37 3 407660 407660 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:407660A>G uc003bou.2 + 14 1836 c.1565A>G c.(1564-1566)AAG>AGG p.K522R CHL1_uc003bot.2_Missense_Mutation_p.K538R|CHL1_uc003bow.1_Missense_Mutation_p.K522R|CHL1_uc011asi.1_Missense_Mutation_p.K538R|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 522 Ig-like C2-type 6.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) GTTTCTCCTAAGAATCCTCGT 0.338 GRM7 2917 broad.mit.edu 37 3 7456790 7456790 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:7456790T>G uc003bqm.2 + 5 1388 c.1114T>G c.(1114-1116)TTC>GTC p.F372V GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.F372V|GRM7_uc003bql.2_Missense_Mutation_p.F372V|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 372 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GGAGGAAAACTTCAACTGCAA 0.388 IL17RC 84818 broad.mit.edu 37 3 9971770 9971770 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:9971770C>A uc003bua.2 + 14 1664 c.1428C>A c.(1426-1428)GAC>GAA p.D476E CIDEC_uc003bto.2_Intron|IL17RC_uc010hcs.2_Missense_Mutation_p.D380E|IL17RC_uc003btz.2_Missense_Mutation_p.D405E|IL17RC_uc011atp.1_Missense_Mutation_p.D244E|IL17RC_uc003bud.2_Intron|IL17RC_uc003bub.2_Missense_Mutation_p.D390E|IL17RC_uc010hct.2_Missense_Mutation_p.D405E|IL17RC_uc010hcu.2_Missense_Mutation_p.D388E|IL17RC_uc010hcv.2_Missense_Mutation_p.D373E|IL17RC_uc011atq.1_Missense_Mutation_p.D390E|IL17RC_uc003buc.2_5'UTR|IL17RC_uc003bue.2_Missense_Mutation_p.D41E NM_153461 NP_703191 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C isoform 1 precursor 476 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|pancreas(1) 2 GCCCCCAGGACAACAGATCCC 0.587 RFTN1 23180 broad.mit.edu 37 3 16475457 16475457 + Nonsense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:16475457G>T uc003cay.2 - 3 515 c.233C>A c.(232-234)TCG>TAG p.S78* RFTN1_uc010hes.2_Nonsense_Mutation_p.S42* NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 78 plasma membrane ovary(3)|central_nervous_system(1) 4 GGCCGCCAGCGAGAAGCCCTG 0.652 GRM2 2912 broad.mit.edu 37 3 51749520 51749520 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:51749520C>T uc010hlv.2 + 4 1970 c.1731C>T c.(1729-1731)CTC>CTT p.L577L GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 577 Helical; Name=1; (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCGCCTGCCTCGGTGCCCTGG 0.637 POLQ 10721 broad.mit.edu 37 3 121228447 121228447 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:121228447C>A uc003eee.3 - 12 2049 c.1920G>T c.(1918-1920)AAG>AAT p.K640N NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 640 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAACAAAGCCCTTCATTGCTC 0.343 DNA_polymerases_(catalytic_subunits) XRN1 54464 broad.mit.edu 37 3 142031582 142031582 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:142031582G>A uc003eus.2 - 41 4743 c.4676C>T c.(4675-4677)TCG>TTG p.S1559L XRN1_uc010huu.2_Missense_Mutation_p.S1013L|XRN1_uc003eut.2_Missense_Mutation_p.S1546L|XRN1_uc003euu.2_Missense_Mutation_p.S1547L NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 isoform a 1559 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding ovary(3) 3 GAGATGAGACGACGAAGGCAT 0.443 P2RY1 5028 broad.mit.edu 37 3 152554180 152554180 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:152554180C>T uc003ezq.2 + 1 1445 c.609C>T c.(607-609)TAC>TAT p.Y203Y NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 203 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TCACCTGTTACGACACCACCT 0.537 CCDC50 152137 broad.mit.edu 37 3 191107374 191107374 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr3:191107374C>T uc003fsw.2 + 10 1474 c.884C>T c.(883-885)TCA>TTA p.S295L CCDC50_uc003fsv.2_Missense_Mutation_p.S471L NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 295 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) TTCTCAAAATCAGAGTCCTCT 0.388 SLC9A3 6550 broad.mit.edu 37 5 488520 488520 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:488520C>T uc003jbe.2 - 3 698 c.586G>A c.(586-588)GTC>ATC p.V196I SLC9A3_uc011clx.1_Missense_Mutation_p.V196I NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 196 Helical; Name=F/M5A; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACGGCCAGGACGGCCACCGGG 0.642 ENC1 8507 broad.mit.edu 37 5 73931384 73931384 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:73931384C>T uc003kdc.3 - 2 2058 c.927G>A c.(925-927)AAG>AAA p.K309K ENC1_uc011css.1_Silent_p.K236K NM_003633 NP_003624 O14682 ENC1_HUMAN ectodermal-neural cortex (with BTB-like domain) 309 Kelch 1. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding ovary(1)|pancreas(1)|skin(1) 3 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CCAGATACAACTTGTCACACA 0.507 DMGDH 29958 broad.mit.edu 37 5 78338268 78338268 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:78338268C>A uc003kfs.2 - 7 1037 c.1031G>T c.(1030-1032)CGA>CTA p.R344L DMGDH_uc011cte.1_Missense_Mutation_p.R194L|DMGDH_uc011ctf.1_Missense_Mutation_p.R143L|DMGDH_uc011ctg.1_Intron NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 344 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTCCATGATTCGATCTAGATC 0.428 DMXL1 1657 broad.mit.edu 37 5 118484637 118484637 + Missense_Mutation SNP A A T rs149431940 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:118484637A>T uc003ksd.2 + 18 3296 c.3115A>T c.(3115-3117)AGT>TGT p.S1039C DMXL1_uc010jcl.1_Missense_Mutation_p.S1039C NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 1039 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGCAATAGTAGTATAACTGT 0.398 PCDHB9 56127 broad.mit.edu 37 5 140567301 140567301 + Missense_Mutation SNP G G C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:140567301G>C uc003liw.1 + 1 409 c.409G>C c.(409-411)GAG>CAG p.E137Q NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 137 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGCACAAAGAGATGGTCTT 0.403 TCERG1 10915 broad.mit.edu 37 5 145838886 145838886 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr5:145838886C>T uc003lob.2 + 4 918 c.878C>T c.(877-879)GCG>GTG p.A293V TCERG1_uc003loc.2_Missense_Mutation_p.A293V|TCERG1_uc011dbt.1_Missense_Mutation_p.A293V NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 293 Thr-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity ovary(1)|skin(1) 2 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACTTCAGTTGCGCAGACAGTA 0.463 FKSG83 83954 broad.mit.edu 37 6 27293549 27293549 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:27293549C>T uc010jqt.2 + 1 972 c.488C>T c.(487-489)TCC>TTC p.S163F FKSG83_uc010jqs.1_3'UTR NM_032030 NP_114419 Q3KNW7 Q3KNW7_HUMAN FKSG83 163 integral to membrane pheromone receptor activity 0 ATGATTATTTCCCCCTGCTTA 0.294 VARS2 57176 broad.mit.edu 37 6 30890881 30890881 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:30890881C>T uc003nsc.1 + 23 2818 c.2186C>T c.(2185-2187)GCG>GTG p.A729V VARS2_uc011dmx.1_Missense_Mutation_p.A729V|VARS2_uc011dmy.1_Missense_Mutation_p.A589V|VARS2_uc011dmz.1_Missense_Mutation_p.A759V|VARS2_uc011dna.1_Missense_Mutation_p.A727V|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_Missense_Mutation_p.A167V|VARS2_uc010jsg.1_Missense_Mutation_p.A101V|VARS2_uc010jsh.1_5'UTR NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 729 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 TCCCTTCCAGCGGGCGACTTG 0.582 C6orf27 80737 broad.mit.edu 37 6 31733757 31733757 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:31733757A>G uc011dog.1 - 16 2640 c.2402T>C c.(2401-2403)GTG>GCG p.V801A NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 801 extracellular region ovary(3) 3 CACCATCACCACGGAATCCGG 0.647 TRERF1 55809 broad.mit.edu 37 6 42227349 42227349 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:42227349G>A uc003osd.2 - 9 2560 c.1997C>T c.(1996-1998)CCG>CTG p.P666L TRERF1_uc011duq.1_Missense_Mutation_p.P583L|TRERF1_uc003osb.2_Missense_Mutation_p.P422L|TRERF1_uc003osc.2_Missense_Mutation_p.P422L|TRERF1_uc003ose.2_Missense_Mutation_p.P686L NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 666 Pro-rich.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTAGGAGGGCGGCGGCGGGAT 0.672 ENPP5 59084 broad.mit.edu 37 6 46135702 46135702 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:46135702G>A uc003oxz.1 - 2 506 c.298C>T c.(298-300)CGG>TGG p.R100W ENPP5_uc003oya.1_Missense_Mutation_p.R100W|ENPP5_uc011dvz.1_Missense_Mutation_p.R6W|ENPP5_uc010jzc.1_Missense_Mutation_p.R100W NM_021572 NP_067547 Q9UJA9 ENPP5_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 100 extracellular region|integral to membrane hydrolase activity 0 GATTTGTTCCGAATAGGATCA 0.378 KIAA1586 57691 broad.mit.edu 37 6 56918804 56918804 + Missense_Mutation SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:56918804T>C uc003pdj.2 + 4 1677 c.1507T>C c.(1507-1509)TAT>CAT p.Y503H KIAA1586_uc011dxm.1_Missense_Mutation_p.Y476H NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 503 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCCTATATTATATATGCATTT 0.348 RIMS1 22999 broad.mit.edu 37 6 72678732 72678732 + Missense_Mutation SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:72678732A>G uc003pga.2 + 2 288 c.211A>G c.(211-213)AGA>GGA p.R71G NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 71 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAAAACACCAAGAAATGCTGA 0.453 SNX14 57231 broad.mit.edu 37 6 86303411 86303411 + Missense_Mutation SNP C C G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:86303411C>G uc003pkr.2 - 1 219 c.26G>C c.(25-27)GGG>GCG p.G9A SNX14_uc011dzg.1_Intron|SNX14_uc003pks.2_Missense_Mutation_p.G9A|SNX14_uc003pkt.2_Missense_Mutation_p.G9A NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 9 cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CAGCTTCTGCCCCATCGTCCG 0.672 EPDR1 54749 broad.mit.edu 37 7 37989889 37989889 + Missense_Mutation SNP C C T rs147990215 byFrequency TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:37989889C>T uc003tfp.2 + 3 945 c.926C>T c.(925-927)ACG>ATG p.T309M EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Missense_Mutation_p.T128M NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 189 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 ATATTGTCTACGCGGTTTTTT 0.463 TNS3 64759 broad.mit.edu 37 7 47343060 47343060 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:47343060G>T uc003tnv.2 - 22 3312 c.2945C>A c.(2944-2946)TCC>TAC p.S982Y TNS3_uc003tnw.2_Missense_Mutation_p.S982Y NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 982 focal adhesion protein binding ovary(4) 4 CAGCACTGGGGAGTCCTTCCT 0.672 FZD1 8321 broad.mit.edu 37 7 90895695 90895695 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:90895695T>C uc003ula.2 + 1 1913 c.1500T>C c.(1498-1500)TTT>TTC p.F500F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 500 Helical; Name=5; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGTACCTGTTTATCGGCACGT 0.602 WDR91 29062 broad.mit.edu 37 7 134889047 134889047 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:134889047C>T uc003vsp.2 - 6 926 c.864G>A c.(862-864)TCG>TCA p.S288S WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 288 breast(2)|ovary(1)|skin(1) 4 CTTTCTTGGCCGAGCTCTGAG 0.592 TMEM213 155006 broad.mit.edu 37 7 138487766 138487766 + Missense_Mutation SNP C C A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:138487766C>A uc010lna.2 + 3 387 c.276C>A c.(274-276)GAC>GAA p.D92E TMEM213_uc010lnb.2_Missense_Mutation_p.D91E NM_001085429 NP_001078898 A2RRL7 TM213_HUMAN transmembrane protein 213 92 Cytoplasmic (Potential). integral to membrane 0 TCTGTGTGGACAAACTGATGA 0.587 SLC4A2 6522 broad.mit.edu 37 7 150772385 150772385 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr7:150772385G>A uc003wit.3 + 20 3347 c.3091G>A c.(3091-3093)GGC>AGC p.G1031S SLC4A2_uc011kve.1_Missense_Mutation_p.G1022S|SLC4A2_uc003wiu.3_Missense_Mutation_p.G1017S|SLC4A2_uc003wiv.3_Missense_Mutation_p.G225S|uc011kvf.1_Silent_p.A167A NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 1031 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGGGCTCCGGCTTCCACCT 0.642 DDHD2 23259 broad.mit.edu 37 8 38095671 38095671 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr8:38095671G>A uc003xlb.2 + 5 943 c.566G>A c.(565-567)GGT>GAT p.G189D DDHD2_uc003xla.2_Missense_Mutation_p.G189D|DDHD2_uc003xlc.2_Missense_Mutation_p.G189D|DDHD2_uc011lbl.1_Intron NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 189 lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) ACGGAGCAGGGTCGACCAAGA 0.403 RBM12B 389677 broad.mit.edu 37 8 94746335 94746335 + Silent SNP T T C TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr8:94746335T>C uc003yfz.2 - 3 2497 c.2304A>G c.(2302-2304)CCA>CCG p.P768P NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 768 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TGAAATGCTCTGGGGGTGGCC 0.677 RBM12B 389677 broad.mit.edu 37 8 94746349 94746349 + Silent SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr8:94746349T>G uc003yfz.2 - 3 2483 c.2290A>C c.(2290-2292)AGG>CGG p.R764R NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 764 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGTGGCCGCCTGAAGTGCTCT 0.677 TSPYL5 85453 broad.mit.edu 37 8 98289373 98289373 + Nonsense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr8:98289373G>A uc003yhy.2 - 1 804 c.700C>T c.(700-702)CGA>TGA p.R234* NM_033512 NP_277047 Q86VY4 TSYL5_HUMAN TSPY-like 5 234 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding large_intestine(1)|ovary(1) 2 Breast(36;2.56e-06) TGCTGCAGTCGCAACTGCCCA 0.567 CSMD3 114788 broad.mit.edu 37 8 113332148 113332148 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr8:113332148C>T uc003ynu.2 - 46 7387 c.7228G>A c.(7228-7230)GAT>AAT p.D2410N CSMD3_uc003yns.2_Missense_Mutation_p.D1612N|CSMD3_uc003ynt.2_Missense_Mutation_p.D2370N|CSMD3_uc011lhx.1_Missense_Mutation_p.D2306N|CSMD3_uc003ynw.1_Missense_Mutation_p.D121N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2410 Extracellular (Potential).|Sushi 13. 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 AATTCATCATCTTCCGTCAAA 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) CYLC2 1539 broad.mit.edu 37 9 105767544 105767544 + Missense_Mutation SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr9:105767544G>A uc004bbs.2 + 5 701 c.631G>A c.(631-633)GGA>AGA p.G211R NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 211 3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.|2. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) AGGTGAAAAAGGAGGTACAGA 0.279 SVEP1 79987 broad.mit.edu 37 9 113173397 113173397 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr9:113173397C>T uc010mtz.2 - 37 6931 c.6594G>A c.(6592-6594)ACG>ACA p.T2198T SVEP1_uc010mty.2_Silent_p.T124T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2198 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCGGGTGGCACGTCGGTATAG 0.522 CERCAM 51148 broad.mit.edu 37 9 131186739 131186739 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr9:131186739C>T uc004buz.3 + 5 1010 c.612C>T c.(610-612)CGC>CGT p.R204R CERCAM_uc004buy.1_Silent_p.R126R|CERCAM_uc010mxz.2_Silent_p.R126R|CERCAM_uc010mya.1_Silent_p.R45R NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 204 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 ACCGCCAGCGCCGGGGCTGCT 0.647 COL5A1 1289 broad.mit.edu 37 9 137708924 137708924 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr9:137708924G>T uc004cfe.2 + 53 4557 c.4175G>T c.(4174-4176)AGG>ATG p.R1392M NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1392 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAGGAAAAAGGGTAAATAAT 0.572 CCNB3 85417 broad.mit.edu 37 X 50085293 50085293 + Silent SNP A A G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:50085293A>G uc004dox.3 + 9 3907 c.3609A>G c.(3607-3609)TTA>TTG p.L1203L CCNB3_uc004doy.2_Silent_p.L1203L|CCNB3_uc004doz.2_Silent_p.L99L|CCNB3_uc010njq.2_Silent_p.L95L|CCNB3_uc004dpa.2_Silent_p.L42L NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1203 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AGGATAAGTTACAACTCCTTG 0.473 HEPH 9843 broad.mit.edu 37 X 65483491 65483491 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:65483491T>G uc011moz.1 + 20 3274 c.3214T>G c.(3214-3216)TTA>GTA p.L1072V HEPH_uc004dwn.2_Missense_Mutation_p.L1072V|HEPH_uc004dwo.2_Missense_Mutation_p.L802V|HEPH_uc010nkr.2_Missense_Mutation_p.L880V|HEPH_uc011mpa.1_Missense_Mutation_p.L1072V NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 1069 Extracellular (Potential).|Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 ACCAGAACACTTAAGCCCTCT 0.438 AR 367 broad.mit.edu 37 X 66765882 66765882 + Silent SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:66765882C>T uc004dwu.1 + 1 2009 c.894C>T c.(892-894)AGC>AGT p.S298S AR_uc011mpd.1_Silent_p.S298S|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.S298S NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 296 Modulating. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) TAGACGACAGCGCAGGCAAGA 0.572 Androgen_Insensitivity_Syndrome KLHL4 56062 broad.mit.edu 37 X 86877278 86877278 + Missense_Mutation SNP T T G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:86877278T>G uc004efb.2 + 5 1174 c.992T>G c.(991-993)CTT>CGT p.L331R KLHL4_uc004efa.2_Missense_Mutation_p.L331R NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 331 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATTTCAAAACTTCTGTGCAGT 0.398 AKAP14 158798 broad.mit.edu 37 X 119037549 119037549 + Silent SNP G G A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:119037549G>A uc004ese.2 + 4 399 c.261G>A c.(259-261)TCG>TCA p.S87S AKAP14_uc004esd.2_Silent_p.S87S|AKAP14_uc004esf.2_Silent_p.S87S NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 87 cytoplasm 0 AATATTTTTCGGTAAGTTAGG 0.413 ZNF75D 7626 broad.mit.edu 37 X 134426308 134426308 + Missense_Mutation SNP G G T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:134426308G>T uc004eyp.2 - 4 3158 c.503C>A c.(502-504)CCA>CAA p.P168Q ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_5'UTR|ZNF75D_uc004eyo.2_Intron NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 168 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 CACACCCATTGGTTGGGGCTC 0.507 PNMA5 114824 broad.mit.edu 37 X 152159886 152159886 + Missense_Mutation SNP C C T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chrX:152159886C>T uc010ntw.2 - 3 596 c.257G>A c.(256-258)GGT>GAT p.G86D PNMA5_uc004fha.3_Missense_Mutation_p.G86D|PNMA5_uc010ntx.2_Missense_Mutation_p.G86D|PNMA5_uc004fgy.3_Missense_Mutation_p.G86D NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 86 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) ccaggagccaccctttcctgg 0 ABCC9 10060 broad.mit.edu 37 12 22059168 22059169 + Frame_Shift_Ins INS - - T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:22059168_22059169insT uc001rfi.1 - 10 1529_1530 c.1509_1510insA c.(1507-1512)AAACTTfs p.K503fs ABCC9_uc001rfh.2_Frame_Shift_Ins_p.K503fs|ABCC9_uc001rfj.1_Frame_Shift_Ins_p.K503fs NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 503_504 Cytoplasmic (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATTTTAGAAGTTTGATGCCTT 0.337 ZDHHC22 283576 broad.mit.edu 37 14 77600151 77600151 + Frame_Shift_Del DEL C C - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr14:77600151delC uc010asp.2 - 3 870 c.667delG c.(667-669)GTGfs p.V223fs NM_174976 NP_777636 Q8N966 ZDH22_HUMAN zinc finger, DHHC domain containing 22 223 integral to membrane acyltransferase activity|zinc ion binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) CTCACTGCCACCCCCTTCCGC 0.652 IRF2BP2 359948 broad.mit.edu 37 1 234743438 234743439 + Frame_Shift_Ins INS - - G TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr1:234743437_234743438T>TG uc001hwg.3 - 1 1240_1241 c.1209_1210A>CA c.(1207-1212)cccactfs p.P403fs IRF2BP2_uc009xfw.3_Frame_Shift_Ins_p.P13fs|IRF2BP2_uc001hwf.3_Frame_Shift_Ins_p.P387fs NM_182972 NP_892017 Q7Z5L9 I2BP2_HUMAN Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA. 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 Ovarian(103;0.0303) all_cancers(173;0.0236)|Prostate(94;0.0115) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05) GGTGAGGCAGTGGGTGGTGGCG 0.599 MED23 9439 broad.mit.edu 37 6 131948549 131948549 + Frame_Shift_Del DEL C C - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr6:131948548_131948548AC>A uc003qcs.1 - 2 321 c.147_147GT>T c.(145-147)ggtfs p.G49fs ENPP3_uc010kfn.1_5'Flank|ENPP3_uc003qcu.4_5'Flank|MED23_uc003qcq.3_Frame_Shift_Del_p.G49fs|MED23_uc003qct.1_Frame_Shift_Del_p.G49fs|MED23_uc011ecb.1_Non-coding_Transcript NM_004830 NP_004821 Q9ULK4 MED23_HUMAN Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA. 49 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GAGAAAGACCACCCCAAAACT 0.318 PIK3C2G 5288 broad.mit.edu 37 12 18491390 18491391 + Frame_Shift_Ins INS - - A TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:18491389_18491390T>TA uc001rdt.3 + 8 1418_1419 c.1302_1303T>TA c.(1300-1305)gttaaafs p.V434fs PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Frame_Shift_Ins_p.V434fs|PIK3C2G_uc010sic.2_Frame_Shift_Ins_p.V212fs NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 434 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTGAAGAAGTTAAAAAAATATG 0.312 ABCC9 10060 broad.mit.edu 37 12 22059169 22059170 + Frame_Shift_Ins INS - - T TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr12:22059168_22059169G>GT uc001rfh.3 - 9 1529_1530 c.1509_1510C>AC c.(1507-1512)aaacttfs p.K503fs ABCC9_uc001rfi.1_Frame_Shift_Ins_p.K503fs NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 503 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATTTTAGAAGTTTGATGCCTT 0.337 TP53 7157 broad.mit.edu 37 17 7578475 7578476 + Frame_Shift_Ins INS - - G rs137852790 TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr17:7578474_7578475C>CG uc002gim.2 - 4 649_650 c.455_456G>CG c.(454-456)ccgfs p.P152fs TP53_uc002gig.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P20fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P152fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Ins_p.P59fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P20fs|TP53_uc010vug.2_Frame_Shift_Ins_p.P113fs NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 152 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). 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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152P(10)|p.P152fs*14(10)|p.P153fs*28(9)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.?(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P152fs*27(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.Q144_G154del11(2)|p.P152_P153insXXX(2)|p.P152A(2)|p.P153fs*16(1)|p.G154fs*16(1)|p.P20R(1)|p.P59R(1)|p.T57fs*16(1)|p.P151del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.G154fs*27(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GGGTGCCGGGCGGGGGTGTGGA 0.614 111 """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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) ZC3H4 23211 broad.mit.edu 37 19 47593291 47593305 + In_Frame_Del DEL GTCCTCCTTGCCCAT GTCCTCCTTGCCCAT - TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr19:47593290_47593304AGTCCTCCTTGCCCAT>A uc002pga.4 - 4 673_687 c.635_649ATGGGCAAGGAGGACT>T c.(634-651)atgggcaaggaggactat>aTat p.212_217MGKEDY>I ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 212 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AAGTCGTCATAGTCCTCCTTGCCCATGTCCTCCTC 0.567 NCOA3 8202 broad.mit.edu 37 20 46264741 46264742 + In_Frame_Ins INS - - TTTATCTAC TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr20:46264740_46264741T>TTTTATCTAC uc002xtk.3 + 11 1871_1872 c.1610_1611T>TTTTATCTAC c.(1609-1611)ctt>cTTTTATCTAC p.539_540insLS NCOA3_uc002xtl.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc002xtn.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc010ght.2_In_Frame_Ins_p.549_550insLS|NCOA3_uc002xtm.3_In_Frame_Ins_p.539_540insLS|NCOA3_uc010zyc.2_In_Frame_Ins_p.334_335insLS NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA. 539 Ser-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GGGACTTCCCTTTTATCTACTC 0.480 TCF20 6942 broad.mit.edu 37 22 42610573 42610574 + In_Frame_Ins INS - - AGG TCGA-IN-8462-01A-11D-2340-08 TCGA-IN-8462-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx c924532b-9a64-43cd-8d71-30c832d3214d eb8505c1-8121-4be9-9e58-889c9d7cb1e0 g.chr22:42610572_42610573A>AAGG uc003bcj.1 - 0 873_874 c.739_740T>CCTT c.(739-741)ttc>CCTTc p.F247P TCF20_uc003bck.1_In_Frame_Ins_p.F247P NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 247 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 TGGTGAAGGGAaggaggaggag 0.500